Human Phenotype Ontology

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:0002012	HP:0002012	Abnormality of the abdominal organs	0	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1			7
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease			191
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease			191
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ABCB11 CL E G H	8647	42	OMIM:605479	Cholestasis, benign recurrent intrahepatic, 2			146
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2			146
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy			146
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ABCB4 CL E G H	5244	45	OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3			111
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3			111
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1			111
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy			111
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis			111
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ABCC2 CL E G H	1244	53	OMIM:237500	DUBIN-JOHNSON syndrome			119
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome			119
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency			245
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1			245
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ABCC8 CL E G H	6833	59	ORPHA:552	MODY			245
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5			5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia			67
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ABCG8 CL E G H	64241	13887	OMIM:611465	GALLBLADDER DISEASE 4; GBD4			76
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia			76
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1			76
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome			90
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ABL1 CL E G H	25	76	ORPHA:521	Chronic myeloid leukemia			51
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency			98
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency			98
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of			197
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency			90
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency			91
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ACD CL E G H	65057	25070	ORPHA:618	Familial melanoma			11
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency			120
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia			16
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy			23
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5			23
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1			23
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ACTN4 CL E G H	81	166	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			27
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal			161
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia			178
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2			178
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome			75
HP:0002012	HP:0002012	Abnormality of the abdominal organs	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:0002012	HP:0002012	Abnormality of the abdominal organs	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary			129
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria			76
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA			76
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III			216
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency			31
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2			62
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2			62
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic			54
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy			12
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy			12
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ALAS2 CL E G H	212	397	OMIM:300752	Protoporphyria, erythropoietic, X-linked			72
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ALAS2 CL E G H	212	397	ORPHA:75563	X-linked sideroblastic anemia			72
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary			73
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance			73
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik			58
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG			46
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG			66
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ALG8 CL E G H	79053	23161	OMIM:617874	POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS; PCLD3			46
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease			93
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ALPK1 CL E G H	80216	20917	OMIM:614979	Splenomegaly, cytopenia, and vision loss
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4			44
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4			44
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis			150
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1			150
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ANKFY1 CL E G H	51479	20763	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16			32
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ANLN CL E G H	54443	14082	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			6
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome			8
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	AP1B1 CL E G H	162	554	ORPHA:171851	MEDNIK syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	AP1S1 CL E G H	1174	559	ORPHA:171851	MEDNIK syndrome			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III			6
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis			3179
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	APC CL E G H	324	583	OMIM:114550	Hepatocellular carcinoma			3179
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	APOA1 CL E G H	335	600	OMIM:105200	Amyloidosis, familial visceral			40
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia			356
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY			27
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia			39
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease			39
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis			39
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	APOL1 CL E G H	8542	618	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	APPL1 CL E G H	26060	24035	ORPHA:552	MODY			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ARG1 CL E G H	383	663	OMIM:207800	Argininemia			31
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ARHGAP24 CL E G H	83478	25361	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ARHGDIA CL E G H	396	678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome			29
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy			253
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia			166
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria			81
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic			119
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis			145
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			145
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ATM CL E G H	472	795	ORPHA:52416	Mantle cell lymphoma			3267
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ATP11C CL E G H	286410	13554	OMIM:301015	Hemolytic anemia, congenital, X-linked			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R			36
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease			192
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease			315
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1			144
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ATP8B1 CL E G H	5205	3706	OMIM:147480	Cholestasis, intrahepatic, of pregnancy, 1			144
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy			144
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1			32
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome			169
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach			169
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1			49
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	AXIN1 CL E G H	8312	903	OMIM:114550	Hepatocellular carcinoma			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	B2M CL E G H	567	914	OMIM:105200	Amyloidosis, familial visceral			8
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis			8
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome			28
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome			34
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10			34
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1			63
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BAP1 CL E G H	8314	950	ORPHA:618	Familial melanoma			184
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma			184
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BARD1 CL E G H	580	952	ORPHA:145	Hereditary breast and ovarian cancer syndrome			790
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome			114
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome			118
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome			71
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome			97
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome			87
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome			25
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome			66
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome			119
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BCHE CL E G H	590	983	ORPHA:132	Butyrylcholinesterase deficiency			67
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease			120
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease			162
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			11
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BCL2 CL E G H	596	990	ORPHA:545	Follicular lymphoma			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BCL6 CL E G H	604	1001	ORPHA:545	Follicular lymphoma			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BCR CL E G H	613	1014	ORPHA:521	Chronic myeloid leukemia			5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BCS1L CL E G H	617	1020	OMIM:603358	GRACILE SYNDROME			72
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome			72
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease			5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BLK CL E G H	640	1057	ORPHA:552	MODY			75
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BLVRA CL E G H	644	1062	OMIM:614156	Hyperbiliverdinemia			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1			13
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X			385
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia			14
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BRCA1 CL E G H	672	1100	ORPHA:70567	Cholangiocarcinoma			5769
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma			5769
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BRCA1 CL E G H	672	1100	ORPHA:145	Hereditary breast and ovarian cancer syndrome			5769
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BRCA1 CL E G H	672	1100	ORPHA:168829	Primary peritoneal carcinoma			5769
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BRCA2 CL E G H	675	1101	ORPHA:70567	Cholangiocarcinoma			7642
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma			7642
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BRCA2 CL E G H	675	1101	ORPHA:145	Hereditary breast and ovarian cancer syndrome			7642
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma			7642
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BRCA2 CL E G H	675	1101	OMIM:613347	Pancreatic cancer, susceptibility to, 2			7642
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BRD4 CL E G H	23476	13575	ORPHA:443167	NUT midline carcinoma
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BRIP1 CL E G H	83990	20473	ORPHA:145	Hereditary breast and ovarian cancer syndrome			1086
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy			105
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy			105
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset			223
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked			109
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia			109
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia			109
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	C1S CL E G H	716	1247	OMIM:613783	Complement component c1s deficiency			7
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3			29
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CALR CL E G H	811	1455	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CALR CL E G H	811	1455	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA			45
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27			35
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			118
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome			87
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA			87
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY			37
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CASP8 CL E G H	841	1509	OMIM:114550	Hepatocellular carcinoma			37
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis			272
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe			272
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CASR CL E G H	846	1514	OMIM:145980	Hypocalciuric hypercalcemia, familial, type I			272
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CASR CL E G H	846	1514	ORPHA:417	Neonatal severe primary hyperparathyroidism			272
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3			11
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4			48
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis			317
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria			242
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2			247
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome			247
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6			247
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14			126
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CCND1 CL E G H	595	1582	ORPHA:52416	Mantle cell lymphoma			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency			38
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2			38
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			8
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			8
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CD2AP CL E G H	23607	14258	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			105
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			18
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			24
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy			9
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia			9
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia			6
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome			83
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia			86
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2			169
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome			169
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CDK4 CL E G H	1019	1773	ORPHA:618	Familial melanoma			145
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CDKN2A CL E G H	1029	1787	ORPHA:618	Familial melanoma			289
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma			289
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome			289
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CDKN2A CL E G H	1029	1787	OMIM:606719	Melanoma-Pancreatic cancer syndrome			289
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CDKN2B CL E G H	1030	1788	ORPHA:618	Familial melanoma			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11			200
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CEL CL E G H	1056	1848	OMIM:609812	Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction			25
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CEL CL E G H	1056	1848	ORPHA:552	MODY			25
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome			27
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CEP120 CL E G H	153241	26690	ORPHA:474	Jeune syndrome			7
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome			34
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome			342
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome			342
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4			342
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome			342
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CEP83 CL E G H	51134	17966	OMIM:615862	Nephronophthisis 18			10
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal			17
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CFB CL E G H	629	1037	OMIM:615561	COMPLEMENT FACTOR B DEFICIENCY; CFBD			30
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal			13
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis			1371
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary			1371
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome			515
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CHEK2 CL E G H	11200	16627	ORPHA:145	Hereditary breast and ovarian cancer syndrome			833
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome			833
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			27
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy			8
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5			8
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II			118
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II			118
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis			102
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4			102
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis			11
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome			11
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7			38
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CLPB CL E G H	81570	30664	OMIM:619813	NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; SCN9			38
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG			67
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj			67
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome			71
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	COL4A3 CL E G H	1285	2204	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			161
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	COQ8B CL E G H	79934	19041	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			35
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia			5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	COX15 CL E G H	1355	2263	OMIM:615119	Mitochondrial complex IV deficiency, nuclear type 6			104
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis			13
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia			115
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis			5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria			72
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria			72
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria			72
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency			99
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency			99
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form			101
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form			101
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile			101
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency			10
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2			10
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7			10
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CRB2 CL E G H	286204	18688	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			12
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary			34
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome			57
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5			10
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides			10
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis			10
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome			10
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CTNNB1 CL E G H	1499	2514	OMIM:114550	Hepatocellular carcinoma			88
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma			88
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis			39
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary			39
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome			50
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease			27
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE			27
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease			111
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked			111
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency			11
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3			57
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3			57
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DAAM2 CL E G H	23500	18143	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease			156
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DCDC2 CL E G H	51473	18141	OMIM:616217	Nephronophthisis 19			8
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal			8
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome			94
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome			94
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation			94
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG			62
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)			57
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DGUOK CL E G H	1716	2858	OMIM:617068	Portal hypertension, noncirrhotic			57
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis			72
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59			47
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency			7
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma			164
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome			164
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome			164
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency			89
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency			89
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6			9
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1			152
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1			73
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DNAJB11 CL E G H	51726	14889	OMIM:618061	Polycystic kidney disease 6 with or without polycystic liver disease
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V			25
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome			5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1			5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40			6
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij			38
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome			13
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis			121
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism			121
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis			11
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DYNC2H1 CL E G H	79659	2962	ORPHA:474	Jeune syndrome			304
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			304
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DYNC2I1 CL E G H	55112	21862	ORPHA:474	Jeune syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DYNC2I2 CL E G H	89891	28296	ORPHA:474	Jeune syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:474	Jeune syndrome			7
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12			80
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia			79
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia			133
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	EMP2 CL E G H	2013	3334	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia			186
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1			186
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	EPB41 CL E G H	2035	3377	OMIM:611804	Elliptocytosis 1			6
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis			6
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis			51
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	EPB42 CL E G H	2038	3381	OMIM:612690	SPHEROCYTOSIS, TYPE 5; SPH5			51
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy			170
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome			170
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ERBB3 CL E G H	2065	3431	OMIM:133180	Erythroleukemia, familial, susceptibility to			12
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2			20
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q			158
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2			199
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2			55
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			37
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			27
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			77
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency			33
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome			159
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	F5 CL E G H	2153	3542	OMIM:600880	Budd-Chiari syndrome			159
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FADD CL E G H	8772	3573	ORPHA:306550	FADD-related immunodeficiency			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FAH CL E G H	2184	3579	ORPHA:882	Tyrosinemia type 1			107
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia			8
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FAM111B CL E G H	374393	24200	OMIM:615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis			6
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome			15
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14			36
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome			59
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome			59
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome			37
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome			37
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2			1361
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency			64
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency			64
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia			5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FECH CL E G H	2235	3647	ORPHA:79278	Autosomal erythropoietic protoporphyria			145
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1			145
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III			23
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included			47
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FGA CL E G H	2243	3661	OMIM:105200	Amyloidosis, familial visceral			47
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included			62
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome			175
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome			175
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included			34
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency			301
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I			233
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy			197
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia			11
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FMO3 CL E G H	2328	3771	OMIM:602079	Trimethylaminuria			55
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FOXJ1 CL E G H	2302	3816	OMIM:618699	CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome			32
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked			32
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis			43
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			101
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset			407
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II			407
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency			52
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency			23
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GALK1 CL E G H	2584	4118	OMIM:230200	Galactokinase deficiency			23
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GALM CL E G H	130589	24063	ORPHA:570422	Galactose mutarotase deficiency
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GALM CL E G H	130589	24063	OMIM:618881	GALACTOSEMIA IV; GALAC4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia			351
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA			351
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease			6
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GANAB CL E G H	23193	4138	OMIM:600666	Polycystic kidney disease 3			6
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GAPVD1 CL E G H	26130	23375	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GATA1 CL E G H	2623	4170	ORPHA:231393	Beta-thalassemia-X-linked thrombocytopenia syndrome			29
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked			29
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome			137
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GBA1 CL E G H	2629	4177	ORPHA:77260	Gaucher disease type 2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV			86
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I			115
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GCGR CL E G H	2642	4192	ORPHA:438274	GCGR-related hyperglucagonemia			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GCK CL E G H	2645	4195	ORPHA:552	MODY			237
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia			8
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GDF2 CL E G H	2658	4217	OMIM:615506	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT5			8
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1			85
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA			50
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II			120
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)			120
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory			17
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GNA11 CL E G H	2767	4379	OMIM:145981	Hypocalciuric hypercalcemia, familial, type II			16
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome			101
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GNMT CL E G H	27232	4415	OMIM:606664	GLYCINE N-METHYLTRANSFERASE DEFICIENCY			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant			23
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma			73
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GPD1 CL E G H	2819	4455	OMIM:614480	Hypertriglyceridemia, transient infantile			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency			12
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID			12
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I			124
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7			54
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis			5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency			41
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency			41
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency			99
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HADHA CL E G H	3030	4801	OMIM:609016	Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency			99
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2			15
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B			15
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis			200
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HBA1 CL E G H	3039	4823	OMIM:613978	Hemoglobin H disease			200
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis			88
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HBA2 CL E G H	3040	4824	OMIM:613978	Hemoglobin H disease			88
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia			580
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HBB CL E G H	3043	4827	OMIM:603902	BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE			580
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HBB CL E G H	3043	4827	ORPHA:231242	Hemoglobin C-beta-thalassemia syndrome			580
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease			580
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease			580
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HBB CL E G H	3043	4827	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome			580
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			580
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia			580
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia			580
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HBG1 CL E G H	3047	4831	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome			35
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			35
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HBG2 CL E G H	3048	4832	OMIM:613977	Cyanosis, transient neonatal			50
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HBG2 CL E G H	3048	4832	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome			50
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			50
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1			38
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HFE CL E G H	3077	4886	OMIM:176100	Porphyria cutanea tarda			38
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency			11
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:545	Follicular lymphoma			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria			81
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent			81
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency			35
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HMGCS2 CL E G H	3158	5008	OMIM:605911	3-Hydroxy-3-Methylglutaryl-Coa synthase-2 deficiency			42
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HNF1A CL E G H	6927	11621	OMIM:142330	Hepatic adenomas, familial			161
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency			161
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HNF1A CL E G H	6927	11621	ORPHA:552	MODY			161
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome			90
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease			90
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome			90
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young			138
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HNF4A CL E G H	3172	5024	ORPHA:552	MODY			138
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			31
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association			25
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HPD CL E G H	3242	5147	OMIM:276710	Tyrosinemia, type III			23
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis			55
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HSD17B10 CL E G H	3028	4800	ORPHA:391457	HSD10 disease, neonatal type			19
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1			26
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1			26
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency			32
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1			32
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2			32
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome			115
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome			115
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome			6
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69			23
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR			60
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease			148
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IFT140 CL E G H	9742	29077	ORPHA:474	Jeune syndrome			148
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome			48
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IFT172 CL E G H	26160	30391	ORPHA:474	Jeune syndrome			48
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly			48
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3			11
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IFT80 CL E G H	57560	29262	ORPHA:474	Jeune syndrome			65
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			65
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome			9
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IGF2R CL E G H	3482	5467	OMIM:114550	Hepatocellular carcinoma			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IGH CL E G H	3492	5477	ORPHA:545	Follicular lymphoma			7
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IGH CL E G H	3492	5477	ORPHA:52416	Mantle cell lymphoma			7
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia			7
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IKBKG CL E G H	8517	5961	OMIM:301081				52
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome			8
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis			46
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis			14
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis			196
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56			7
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			65
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome			48
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked			48
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency			48
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14			51
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome			94
HP:0002012	HP:0002012	Abnormality of the abdominal organs	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:0002012	HP:0002012	Abnormality of the abdominal organs	0	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency			94
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	INF2 CL E G H	64423	23791	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			135
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia			18
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	INS CL E G H	3630	6081	ORPHA:552	MODY			62
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome			106
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome			61
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67			58
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B			5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1			51
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis			130
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE			12
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	JAK2 CL E G H	3717	6192	OMIM:600880	Budd-Chiari syndrome			57
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome			57
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1			57
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia			57
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis			57
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	JAK2 CL E G H	3717	6192	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included			57
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera			57
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera			57
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis			57
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency			140
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	JAM2 CL E G H	58494	14686	ORPHA:1980	Bilateral striopallidodentate calcinosis
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			10
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency			127
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KCNJ11 CL E G H	3767	6257	OMIM:601820	Hyperinsulinemic hypoglycemia, familial, 2			127
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY			127
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KIF20A CL E G H	10112	9787	OMIM:619433	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KIF23 CL E G H	9493	6392	OMIM:105600	Anemia, dyserythropoietic congenital, type III			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KIT CL E G H	3815	6342	ORPHA:44890	Gastrointestinal stromal tumor			327
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			327
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KLF1 CL E G H	10661	6345	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome			42
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			42
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KLF11 CL E G H	8462	11811	ORPHA:552	MODY			78
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome			13
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41			13
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma			196
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome			196
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KRAS CL E G H	3845	6407	OMIM:260350	Pancreatic cancer			196
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic			196
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KRIT1 CL E G H	889	1573	OMIM:116860	Cerebral cavernous malformations 1			92
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial			19
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	KYNU CL E G H	8942	6469	OMIM:236800	HYDROXYKYNURENINURIA			5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome			70
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome			70
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LCAT CL E G H	3931	6522	ORPHA:79292	Fish-eye disease			26
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia			2157
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia			73
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome			68
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome			88
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome			88
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LIPA CL E G H	3988	6617	ORPHA:75234	Cholesteryl ester storage disease			73
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease			73
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy			7
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6			7
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF			46
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LMF1 CL E G H	64788	14154	OMIM:246650	LIPASE DEFICIENCY, COMBINED			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type			645
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type			645
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2			645
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome			645
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy			11
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome			186
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia			106
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease			125
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LRP5 CL E G H	4041	6697	OMIM:617875	Polycystic liver disease 4 with or without kidney cysts			125
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3			12
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LYZ CL E G H	4069	6740	OMIM:105200	Amyloidosis, familial visceral			32
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MAGI2 CL E G H	9863	18957	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			59
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MAGT1 CL E G H	84061	28880	OMIM:301031	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC			17
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN			17
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MC1R CL E G H	4157	6929	ORPHA:618	Familial melanoma			124
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency			81
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54			69
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome			950
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever			281
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MEFV CL E G H	4210	6998	OMIM:134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT			281
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome			13
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma			462
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1			462
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MET CL E G H	4233	7029	OMIM:114550	Hepatocellular carcinoma			375
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma			375
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MFN2 CL E G H	9927	16877	ORPHA:2398	Multiple symmetric lipomatosis			203
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MGMT CL E G H	4255	7059	ORPHA:618	Familial melanoma			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MITF CL E G H	4286	7105	ORPHA:618	Familial melanoma			91
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome			69
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome			127
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome			127
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome			1819
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome			1819
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome			131
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type			113
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type			127
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MNS1 CL E G H	55329	29636	OMIM:618948	HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB			37
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency			6
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib			51
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG			51
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MPIG6B CL E G H	80739	13937	OMIM:617441	Thrombocytopenia, anemia, and myelofibrosis			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia			97
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis			97
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MPL CL E G H	4352	7217	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included			97
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera			97
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis			97
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE			56
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MRE11 CL E G H	4361	7230	ORPHA:145	Hereditary breast and ovarian cancer syndrome			532
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16			13
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34			12
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome			2162
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome			2162
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MSH6 CL E G H	2956	7329	OMIM:614350	Colorectal cancer, hereditary nonpolyposis, type 5			2232
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome			2232
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome			2232
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE			88
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic			133
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever			150
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria			150
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4			1143
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma			11
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia			9
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2			418
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MYO1E CL E G H	4643	7599	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MYO5B CL E G H	4645	7603	OMIM:619868				192
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MYORG CL E G H	57462	19918	ORPHA:1980	Bilateral striopallidodentate calcinosis
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy			217
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency			14
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1			47
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NAGA CL E G H	4668	7631	ORPHA:79281	Alpha-N-acetylgalactosaminidase deficiency type 3			47
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency			36
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2			25
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NBEAL2 CL E G H	23218	31928	ORPHA:721	Gray platelet syndrome			127
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NBEAL2 CL E G H	23218	31928	OMIM:139090	Gray platelet syndrome			127
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NBN CL E G H	4683	7652	ORPHA:145	Hereditary breast and ovarian cancer syndrome			706
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease			13
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I			13
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease			67
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II			67
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease			37
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			96
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11			40
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8			22
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NDUFS7 CL E G H	374291	7714	OMIM:618224	Mitochondrial complex I deficiency, nuclear type 3			38
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2			43
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1			43
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY			32
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis			5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency			7
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency			11
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52			5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			27
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NHP2 CL E G H	55651	14377	OMIM:613987	Dyskeratosis congenita, autosomal recessive, 2			27
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia			90
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC			30
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK			37
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2			99
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome			217
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			17
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2			138
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis			144
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1			258
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2			33
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome			85
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome			85
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3			157
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome			157
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome			157
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome			220
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NPHS1 CL E G H	4868	7908	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			241
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NPHS2 CL E G H	7827	13394	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			69
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5			14
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy			14
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic			102
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NTHL1 CL E G H	4913	8028	ORPHA:454840	NTHL1-related attenuated familial adenomatous polyposis			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NUP107 CL E G H	57122	29914	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NUP133 CL E G H	55746	18016	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NUP160 CL E G H	23279	18017	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NUP205 CL E G H	23165	18658	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NUP37 CL E G H	79023	29929	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NUP85 CL E G H	79902	8734	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NUP93 CL E G H	9688	28958	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	NUTM1 CL E G H	256646	29919	ORPHA:443167	NUT midline carcinoma
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	OAS1 CL E G H	4938	8086	OMIM:618042	Pulmonary alveolar proteinosis with hypogammaglobulinemia			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1			201
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ORAI1 CL E G H	84876	25896	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome			19
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	OTC CL E G H	5009	8512	ORPHA:664	Ornithine transcarbamylase deficiency			369
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma			1349
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PALB2 CL E G H	79728	26144	ORPHA:145	Hereditary breast and ovarian cancer syndrome			1349
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma			192
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PALLD CL E G H	23022	17068	OMIM:606856	PANCREATIC CANCER, SUSCEPTIBILITY TO, 1			192
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PAX2 CL E G H	5076	8616	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			39
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PAX4 CL E G H	5078	8618	OMIM:612227	Diabetes mellitus, ketosis-prone			55
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PAX4 CL E G H	5078	8618	ORPHA:552	MODY			55
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia			63
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PAX8 CL E G H	7849	8622	ORPHA:95720	Thyroid hypoplasia			63
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency			118
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia			96
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PCCA CL E G H	5095	8653	ORPHA:35	Propionic acidemia			96
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia			92
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PCCB CL E G H	5096	8654	ORPHA:35	Propionic acidemia			92
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic			53
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PCK2 CL E G H	5106	8725	OMIM:261650	Phosphoenolpyruvate carboxykinase 2, mitochondrial			6
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency			65
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia			178
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2			13
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PDGFB CL E G H	5155	8800	ORPHA:1980	Bilateral striopallidodentate calcinosis			9
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PDGFRA CL E G H	5156	8803	ORPHA:44890	Gastrointestinal stromal tumor			337
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic			337
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PDGFRB CL E G H	5159	8804	ORPHA:1980	Bilateral striopallidodentate calcinosis			28
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis			28
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PDGFRL CL E G H	5157	8805	OMIM:114550	Hepatocellular carcinoma			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PDX1 CL E G H	3651	6107	ORPHA:552	MODY			30
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital			30
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease			169
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy			169
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B			169
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease			75
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy			75
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)			75
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease			65
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy			65
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)			65
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B			65
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease			66
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy			66
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease			46
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy			46
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX14 CL E G H	5195	8856	OMIM:614887	Peroxisome biogenesis disorder 13A (Zellweger)			46
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease			59
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy			59
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)			59
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease			62
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy			62
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease			82
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy			82
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease			106
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy			106
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)			106
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease			47
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy			47
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)			47
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease			99
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy			99
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease			98
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy			98
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX6 CL E G H	5190	8859	OMIM:614862	Peroxisome biogenesis disorder 4A (Zellweger)			98
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B			98
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease			72
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII			64
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa			54
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb			101
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc			48
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease			45
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis			36
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema			36
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria			46
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency			6
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi			162
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PIK3CA CL E G H	5290	8975	OMIM:114550	Hepatocellular carcinoma			162
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome			162
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14			9
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia			43
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36			43
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease			342
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PKD1 CL E G H	5310	9008	OMIM:173900	Polycystic kidneys			342
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease			106
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2			106
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease			563
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease			563
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency			51
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PLCE1 CL E G H	51196	17175	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			118
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PLEKHM1 CL E G H	9842	29017	OMIM:618107	OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4			19
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy			19
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome			56
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome			1121
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency			52
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy			65
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy			65
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome			731
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)			464
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)			45
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4			45
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency			27
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair			27
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	POT1 CL E G H	25913	17284	ORPHA:618	Familial melanoma			23
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1			36
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3			42
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata			41
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			58
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma			134
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome			10
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency			10
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease			63
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PRKCSH CL E G H	5589	9411	OMIM:174050	Polycystic liver disease 1 with or without kidney cysts			63
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis			51
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary			51
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency			81
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PSAP CL E G H	5660	9498	ORPHA:139406	Encephalopathy due to prosaposin deficiency			81
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PSMB10 CL E G H	5699	9538	OMIM:619175	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PTEN CL E G H	5728	9588	ORPHA:145	Hereditary breast and ovarian cancer syndrome			948
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome			948
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome			948
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PTF1A CL E G H	256297	23734	OMIM:615935	Pancreatic agenesis 2			22
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome			22
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PTPN3 CL E G H	5774	9655	ORPHA:70567	Cholangiocarcinoma			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PTPRC CL E G H	5788	9666	OMIM:619924				25
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PTPRO CL E G H	5800	9678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency			71
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI			71
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome			31
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2			67
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2			67
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RABL3 CL E G H	285282	18072	OMIM:618680	PANCREATIC CANCER, SUSCEPTIBILITY TO, 5; PNCA5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B			9
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RAD50 CL E G H	10111	9816	ORPHA:145	Hereditary breast and ovarian cancer syndrome			789
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RAD51 CL E G H	5888	9817	ORPHA:145	Hereditary breast and ovarian cancer syndrome			9
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RAD51C CL E G H	5889	9820	ORPHA:145	Hereditary breast and ovarian cancer syndrome			391
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RAD51D CL E G H	5892	9823	ORPHA:145	Hereditary breast and ovarian cancer syndrome			345
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency			127
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome			127
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome			127
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			127
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome			50
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome			50
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			50
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome			9
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome			445
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			334
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma			7
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN			92
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG			92
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II			38
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II			38
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome			28
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II			26
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II			26
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II			34
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II			34
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RHAG CL E G H	6005	10006	OMIM:268150	Anemia, hemolytic, Rh-null, Regulator type			13
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis			13
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis			13
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome			13
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RHBDF2 CL E G H	79651	20788	ORPHA:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome			80
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome			8
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced			16
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome			16
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3			99
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RIPK1 CL E G H	8737	10019	OMIM:618852	AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11			26
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome			37
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4			33
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3			60
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome			5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome			109
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RPGRIP1L CL E G H	23322	29168	OMIM:619113	COACH SYNDROME 3; COACH3			167
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome			167
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RPGRIP1L CL E G H	23322	29168	OMIM:611561	Meckel syndrome, type 5			167
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RPSA CL E G H	3921	6502	OMIM:271400	Asplenia, isolated congenital			9
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis			181
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	RUNX1 CL E G H	861	10471	ORPHA:521	Chronic myeloid leukemia			181
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome			8
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease			8
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SASH3 CL E G H	54440	15975	OMIM:301082				1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome			26
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1			26
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis			80
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1			77
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			67
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			61
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			57
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome			5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21			5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome			61
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome			61
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SDHA CL E G H	6389	10680	ORPHA:44890	Gastrointestinal stromal tumor			304
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SDHB CL E G H	6390	10681	ORPHA:44890	Gastrointestinal stromal tumor			237
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SDHC CL E G H	6391	10682	ORPHA:44890	Gastrointestinal stromal tumor			147
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome			129
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II			60
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease			137
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SEC63 CL E G H	11231	21082	OMIM:617004	Polycystic liver disease 2			137
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X			48
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency			131
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SERPINA1 CL E G H	5265	8941	ORPHA:60	Alpha-1-antitrypsin deficiency			131
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency			39
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia			19
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic			10
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic			33
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SH2B3 CL E G H	10019	29605	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SH2B3 CL E G H	10019	29605	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1			37
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC10A1 CL E G H	6554	10905	OMIM:619256	HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC11A2 CL E G H	4891	10908	OMIM:206100	Anemia, hypochromic microcytic, with iron overload 1			60
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC16A1 CL E G H	6566	10922	OMIM:610021	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7			74
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease			78
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC20A2 CL E G H	6575	10947	ORPHA:1980	Bilateral striopallidodentate calcinosis			70
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary			207
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC22A5 CL E G H	6584	10969	ORPHA:158	Systemic primary carnitine deficiency			207
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria			28
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II			82
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset			82
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset			82
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency			82
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome			88
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome			88
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly			36
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type			36
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency			40
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency			40
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC26A4 CL E G H	5172	8818	ORPHA:95720	Thyroid hypoplasia			274
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2			255
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects			255
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome			71
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome			42
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1			42
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib			110
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic			110
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type			55
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC40A1 CL E G H	30061	10909	ORPHA:139491	Hemochromatosis type 4			56
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4			56
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC4A1 CL E G H	6521	11027	OMIM:185020	CRYOHYDROCYTOSIS			109
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis			109
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis			109
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC4A1 CL E G H	6521	11027	OMIM:612653	Spherocytosis, type 4			109
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis			59
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance			104
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLCO1B1 CL E G H	10599	10959	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic			52
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLCO1B1 CL E G H	10599	10959	ORPHA:3111	Rotor syndrome			52
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLCO1B3 CL E G H	28234	10961	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic			60
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLCO1B3 CL E G H	28234	10961	ORPHA:3111	Rotor syndrome			60
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis			13
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma			504
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia			504
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome			504
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SMAD4 CL E G H	4089	6770	OMIM:260350	Pancreatic cancer			504
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia			74
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B			164
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B			164
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD			6
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome			49
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SP110 CL E G H	3431	5401	OMIM:235550	Hepatic venoocclusive disease with immunodeficiency			49
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis			34
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary			34
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SPINK1 CL E G H	6690	11244	OMIM:608189	Tropical calcific pancreatitis			34
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis			228
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis			228
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SPTB CL E G H	6710	11274	OMIM:617948	ELLIPTOCYTOSIS 3; EL3			156
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis			156
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis			156
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SPTB CL E G H	6710	11274	OMIM:616649	SPHEROCYTOSIS, TYPE 2; SPH2			156
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C			89
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome			31
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	STIM1 CL E G H	6786	11386	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome			31
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	STK11 CL E G H	6794	11389	OMIM:260350	Pancreatic cancer			740
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome			740
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome			740
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome			71
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency			14
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			85
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4			85
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			70
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5			70
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency			80
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency			80
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency			34
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21			28
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TBC1D8B CL E G H	54885	24715	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TBX19 CL E G H	9095	11596	OMIM:201400	Acth deficiency, isolated			57
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency			57
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TBXAS1 CL E G H	6916	11609	ORPHA:1802	Ghosal hematodiaphyseal dysplasia			16
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis			82
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome			45
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome			76
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18			31
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome			31
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			48
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TERC CL E G H	7012	11727	OMIM:614743	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2			48
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TERF2IP CL E G H	54386	19246	ORPHA:618	Familial melanoma
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2			238
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			238
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TERT CL E G H	7015	11730	ORPHA:618	Familial melanoma			238
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic			238
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TF CL E G H	7018	11740	OMIM:209300	ATRANSFERRINEMIA			45
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TF CL E G H	7018	11740	ORPHA:1195	Congenital atransferrinemia			45
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3			67
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis			155
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome			253
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis			23
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	THPO CL E G H	7066	11795	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1			23
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			60
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TJP2 CL E G H	9414	11828	OMIM:615878	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4			149
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK			24
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TMEM199 CL E G H	147007	18085	OMIM:616829	Congenital disorder of glycosylation, type IIP			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome			45
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2			45
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome			33
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome			82
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6			166
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome			166
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3			166
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11			166
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TMEM67 CL E G H	91147	28396	ORPHA:140976	RHYNS syndrome			166
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TMPRSS6 CL E G H	164656	16517	ORPHA:209981	IRIDA syndrome			65
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency			32
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2			32
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency			12
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2			12
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant			131
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome			131
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TNFRSF4 CL E G H	7293	11918	OMIM:615593	Immunodeficiency 16			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy			180
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy			248
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis			71
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia			911
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma			911
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TP53 CL E G H	7157	11998	OMIM:114550	Hepatocellular carcinoma			911
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TP53 CL E G H	7157	11998	ORPHA:145	Hereditary breast and ovarian cancer syndrome			911
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome			911
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome			911
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TP53 CL E G H	7157	11998	OMIM:260350	Pancreatic cancer			911
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis			92
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome			6
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9			6
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18			27
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18			27
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations			56
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy			56
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome			108
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TRIM37 CL E G H	4591	7523	ORPHA:2576	Mulibrey nanism			78
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient			101
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency			101
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TRPC6 CL E G H	7225	12338	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			107
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TRPV6 CL E G H	55503	14006	ORPHA:417	Neonatal severe primary hyperparathyroidism			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3			43
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency			9
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations			97
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TSHR CL E G H	7253	12373	ORPHA:95720	Thyroid hypoplasia			97
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TTC21B CL E G H	79809	25660	ORPHA:474	Jeune syndrome			132
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TTC21B CL E G H	79809	25660	OMIM:613819	Short-Rib thoracic dysplasia 4 with or without polydactyly			132
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome			26
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome			41
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4			55
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome			25
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency			15
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1			73
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	UGT1A1 CL E G H	54658	12530	ORPHA:79235	Crigler-Najjar syndrome type 2			73
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	UGT1A1 CL E G H	54658	12530	OMIM:218800	Crigler-Najjar syndrome, type I			73
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	UGT1A1 CL E G H	54658	12530	OMIM:606785	Crigler-najjar syndrome, type II			73
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	UGT1A1 CL E G H	54658	12530	OMIM:237900	Hyperbilirubinemia, familial transient neonatal			73
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria			135
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			116
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3			116
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	UQCRB CL E G H	7381	12582	OMIM:615158	Mitochondrial complex III deficiency, nuclear type 3			13
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	UROD CL E G H	7389	12591	OMIM:176100	Porphyria cutanea tarda			31
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2			2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			63
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome			490
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	VPS33B CL E G H	26276	12712	OMIM:620010				63
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive			7
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome			60
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	WDR19 CL E G H	57728	18340	ORPHA:474	Jeune syndrome			95
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13			95
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome			95
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8			95
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly			95
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			136
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly			136
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome			389
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive			12
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor			177
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	WT1 CL E G H	7490	12796	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			177
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome			177
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma			177
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1			81
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2			81
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome			8
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1			109
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	XPR1 CL E G H	9213	12827	ORPHA:1980	Bilateral striopallidodentate calcinosis			4
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome			9
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			9
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG			14
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2			45
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma			7
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency			46
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT			46
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0002012	HP:0002012	Abnormality of the abdominal organs	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0002012	HP:0001732	Abnormality of the pancreas	1	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1			7
HP:0002012	HP:0001392	Abnormality of the liver	1	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease			191
HP:0002012	HP:0001392	Abnormality of the liver	1	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease			191
HP:0002012	HP:0001743	Abnormality of the spleen	1	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease			191
HP:0002012	HP:0001743	Abnormality of the spleen	1	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease			191
HP:0002012	HP:0001392	Abnormality of the liver	1	ABCB11 CL E G H	8647	42	OMIM:605479	Cholestasis, benign recurrent intrahepatic, 2			146
HP:0002012	HP:0001392	Abnormality of the liver	1	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2			146
HP:0002012	HP:0001743	Abnormality of the spleen	1	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2			146
HP:0002012	HP:0001392	Abnormality of the liver	1	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy			146
HP:0002012	HP:0001732	Abnormality of the pancreas	1	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		146
HP:0002012	HP:0001392	Abnormality of the liver	1	ABCB4 CL E G H	5244	45	OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3			111
HP:0002012	HP:0001392	Abnormality of the liver	1	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3			111
HP:0002012	HP:0001743	Abnormality of the spleen	1	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3			111
HP:0002012	HP:0001392	Abnormality of the liver	1	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1			111
HP:0002012	HP:0001732	Abnormality of the pancreas	1	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1			111
HP:0002012	HP:0001392	Abnormality of the liver	1	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy			111
HP:0002012	HP:0001732	Abnormality of the pancreas	1	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		111
HP:0002012	HP:0001392	Abnormality of the liver	1	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis			111
HP:0002012	HP:0001732	Abnormality of the pancreas	1	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis			111
HP:0002012	HP:0001392	Abnormality of the liver	1	ABCC2 CL E G H	1244	53	OMIM:237500	DUBIN-JOHNSON syndrome			119
HP:0002012	HP:0001392	Abnormality of the liver	1	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome	HP:0040281 - Very frequent		119
HP:0002012	HP:0001392	Abnormality of the liver	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0002012	HP:0001732	Abnormality of the pancreas	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0002012	HP:0001392	Abnormality of the liver	1	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency			245
HP:0002012	HP:0001732	Abnormality of the pancreas	1	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency			245
HP:0002012	HP:0001732	Abnormality of the pancreas	1	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1			245
HP:0002012	HP:0001732	Abnormality of the pancreas	1	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0002012	HP:0001392	Abnormality of the liver	1	ABCC8 CL E G H	6833	59	ORPHA:552	MODY			245
HP:0002012	HP:0001732	Abnormality of the pancreas	1	ABCC8 CL E G H	6833	59	ORPHA:552	MODY			245
HP:0002012	HP:0001392	Abnormality of the liver	1	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5			5
HP:0002012	HP:0001743	Abnormality of the spleen	1	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5			5
HP:0002012	HP:0001392	Abnormality of the liver	1	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia			67
HP:0002012	HP:0001392	Abnormality of the liver	1	ABCG8 CL E G H	64241	13887	OMIM:611465	GALLBLADDER DISEASE 4; GBD4			76
HP:0002012	HP:0001392	Abnormality of the liver	1	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia			76
HP:0002012	HP:0001743	Abnormality of the spleen	1	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1			76
HP:0002012	HP:0001392	Abnormality of the liver	1	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome			90
HP:0002012	HP:0001392	Abnormality of the liver	1	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0002012	HP:0001743	Abnormality of the spleen	1	ABL1 CL E G H	25	76	ORPHA:521	Chronic myeloid leukemia			51
HP:0002012	HP:0001392	Abnormality of the liver	1	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency			98
HP:0002012	HP:0001392	Abnormality of the liver	1	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency			98
HP:0002012	HP:0001392	Abnormality of the liver	1	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of			197
HP:0002012	HP:0001392	Abnormality of the liver	1	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0002012	HP:0001392	Abnormality of the liver	1	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency			90
HP:0002012	HP:0001392	Abnormality of the liver	1	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0002012	HP:0001392	Abnormality of the liver	1	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0002012	HP:0001392	Abnormality of the liver	1	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency			91
HP:0002012	HP:0001732	Abnormality of the pancreas	1	ACD CL E G H	65057	25070	ORPHA:618	Familial melanoma			11
HP:0002012	HP:0001392	Abnormality of the liver	1	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency			120
HP:0002012	HP:0001392	Abnormality of the liver	1	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0002012	HP:0001392	Abnormality of the liver	1	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia			16
HP:0002012	HP:0011620	Abnormality of abdominal situs	1	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy			23
HP:0002012	HP:0001392	Abnormality of the liver	1	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5			23
HP:0002012	HP:0001732	Abnormality of the pancreas	1	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1			23
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	ACTN4 CL E G H	81	166	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			27
HP:0002012	HP:0001392	Abnormality of the liver	1	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal			161
HP:0002012	HP:0001743	Abnormality of the spleen	1	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal			161
HP:0002012	HP:0001392	Abnormality of the liver	1	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia			178
HP:0002012	HP:0001392	Abnormality of the liver	1	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2			178
HP:0002012	HP:0001392	Abnormality of the liver	1	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome			75
HP:0002012	HP:0001743	Abnormality of the spleen	1	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome			75
HP:0002012	HP:0001392	Abnormality of the liver	1	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:0002012	HP:0001743	Abnormality of the spleen	1	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:0002012	HP:0001392	Abnormality of the liver	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0002012	HP:0001743	Abnormality of the spleen	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0002012	HP:0001392	Abnormality of the liver	1	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary			129
HP:0002012	HP:0001743	Abnormality of the spleen	1	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0002012	HP:0001392	Abnormality of the liver	1	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0002012	HP:0001392	Abnormality of the liver	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0002012	HP:0001743	Abnormality of the spleen	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0002012	HP:0001392	Abnormality of the liver	1	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0002012	HP:0001743	Abnormality of the spleen	1	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0002012	HP:0001392	Abnormality of the liver	1	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0002012	HP:0001743	Abnormality of the spleen	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0002012	HP:0001392	Abnormality of the liver	1	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria			76
HP:0002012	HP:0001392	Abnormality of the liver	1	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA			76
HP:0002012	HP:0001743	Abnormality of the spleen	1	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria			76
HP:0002012	HP:0001392	Abnormality of the liver	1	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome			1
HP:0002012	HP:0001392	Abnormality of the liver	1	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III			216
HP:0002012	HP:0001392	Abnormality of the liver	1	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0002012	HP:0001392	Abnormality of the liver	1	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0002012	HP:0001732	Abnormality of the pancreas	1	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0002012	HP:0001743	Abnormality of the spleen	1	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0002012	HP:0001392	Abnormality of the liver	1	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent		31
HP:0002012	HP:0001392	Abnormality of the liver	1	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0002012	HP:0001743	Abnormality of the spleen	1	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0002012	HP:0001392	Abnormality of the liver	1	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2			62
HP:0002012	HP:0001743	Abnormality of the spleen	1	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2			62
HP:0002012	HP:0001392	Abnormality of the liver	1	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2			62
HP:0002012	HP:0001743	Abnormality of the spleen	1	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0002012	HP:0001743	Abnormality of the spleen	1	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic			54
HP:0002012	HP:0001392	Abnormality of the liver	1	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy			12
HP:0002012	HP:0001392	Abnormality of the liver	1	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy			12
HP:0002012	HP:0001392	Abnormality of the liver	1	ALAS2 CL E G H	212	397	OMIM:300752	Protoporphyria, erythropoietic, X-linked			72
HP:0002012	HP:0001743	Abnormality of the spleen	1	ALAS2 CL E G H	212	397	ORPHA:75563	X-linked sideroblastic anemia			72
HP:0002012	HP:0001392	Abnormality of the liver	1	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0002012	HP:0001392	Abnormality of the liver	1	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0002012	HP:0001743	Abnormality of the spleen	1	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0002012	HP:0001392	Abnormality of the liver	1	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary			73
HP:0002012	HP:0001392	Abnormality of the liver	1	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance			73
HP:0002012	HP:0001392	Abnormality of the liver	1	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik			58
HP:0002012	HP:0001743	Abnormality of the spleen	1	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik			58
HP:0002012	HP:0001392	Abnormality of the liver	1	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0002012	HP:0001392	Abnormality of the liver	1	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG			46
HP:0002012	HP:0001392	Abnormality of the liver	1	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0002012	HP:0001392	Abnormality of the liver	1	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0002012	HP:0001732	Abnormality of the pancreas	1	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0002012	HP:0001392	Abnormality of the liver	1	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040283 - Occasional		66
HP:0002012	HP:0001392	Abnormality of the liver	1	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0002012	HP:0001392	Abnormality of the liver	1	ALG8 CL E G H	79053	23161	OMIM:617874	POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS; PCLD3			46
HP:0002012	HP:0001392	Abnormality of the liver	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0002012	HP:0001392	Abnormality of the liver	1	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease			93
HP:0002012	HP:0001732	Abnormality of the pancreas	1	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease			93
HP:0002012	HP:0001392	Abnormality of the liver	1	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0002012	HP:0001743	Abnormality of the spleen	1	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0002012	HP:0001392	Abnormality of the liver	1	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0002012	HP:0001392	Abnormality of the liver	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0002012	HP:0001732	Abnormality of the pancreas	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0002012	HP:0001743	Abnormality of the spleen	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0002012	HP:0001392	Abnormality of the liver	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0002012	HP:0001743	Abnormality of the spleen	1	ALPK1 CL E G H	80216	20917	OMIM:614979	Splenomegaly, cytopenia, and vision loss
HP:0002012	HP:0001392	Abnormality of the liver	1	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4			44
HP:0002012	HP:0001392	Abnormality of the liver	1	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4			44
HP:0002012	HP:0001743	Abnormality of the spleen	1	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0002012	HP:0001392	Abnormality of the liver	1	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis			150
HP:0002012	HP:0001743	Abnormality of the spleen	1	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis			150
HP:0002012	HP:0001392	Abnormality of the liver	1	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1			150
HP:0002012	HP:0001743	Abnormality of the spleen	1	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1			150
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	ANKFY1 CL E G H	51479	20763	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0002012	HP:0001743	Abnormality of the spleen	1	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0002012	HP:0001392	Abnormality of the liver	1	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16			32
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	ANLN CL E G H	54443	14082	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			6
HP:0002012	HP:0001392	Abnormality of the liver	1	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome			8
HP:0002012	HP:0001392	Abnormality of the liver	1	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0002012	HP:0001392	Abnormality of the liver	1	AP1B1 CL E G H	162	554	ORPHA:171851	MEDNIK syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	AP1S1 CL E G H	1174	559	ORPHA:171851	MEDNIK syndrome			1
HP:0002012	HP:0001392	Abnormality of the liver	1	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma			1
HP:0002012	HP:0001732	Abnormality of the pancreas	1	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III			6
HP:0002012	HP:0001392	Abnormality of the liver	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0002012	HP:0001743	Abnormality of the spleen	1	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0002012	HP:0001392	Abnormality of the liver	1	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0002012	HP:0001392	Abnormality of the liver	1	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0002012	HP:0001732	Abnormality of the pancreas	1	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis			3179
HP:0002012	HP:0001392	Abnormality of the liver	1	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0002012	HP:0001392	Abnormality of the liver	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0002012	HP:0001732	Abnormality of the pancreas	1	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0002012	HP:0001392	Abnormality of the liver	1	APC CL E G H	324	583	OMIM:114550	Hepatocellular carcinoma			3179
HP:0002012	HP:0001392	Abnormality of the liver	1	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0002012	HP:0001392	Abnormality of the liver	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0002012	HP:0001392	Abnormality of the liver	1	APOA1 CL E G H	335	600	OMIM:105200	Amyloidosis, familial visceral			40
HP:0002012	HP:0001743	Abnormality of the spleen	1	APOA1 CL E G H	335	600	OMIM:105200	Amyloidosis, familial visceral			40
HP:0002012	HP:0001392	Abnormality of the liver	1	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia			356
HP:0002012	HP:0001392	Abnormality of the liver	1	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY			27
HP:0002012	HP:0001732	Abnormality of the pancreas	1	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY			27
HP:0002012	HP:0001743	Abnormality of the spleen	1	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY			27
HP:0002012	HP:0001392	Abnormality of the liver	1	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia			39
HP:0002012	HP:0001732	Abnormality of the pancreas	1	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia			39
HP:0002012	HP:0001392	Abnormality of the liver	1	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease			39
HP:0002012	HP:0001743	Abnormality of the spleen	1	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease			39
HP:0002012	HP:0001392	Abnormality of the liver	1	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis			39
HP:0002012	HP:0001743	Abnormality of the spleen	1	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis			39
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	APOL1 CL E G H	8542	618	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			3
HP:0002012	HP:0001392	Abnormality of the liver	1	APPL1 CL E G H	26060	24035	ORPHA:552	MODY			2
HP:0002012	HP:0001732	Abnormality of the pancreas	1	APPL1 CL E G H	26060	24035	ORPHA:552	MODY			2
HP:0002012	HP:0001392	Abnormality of the liver	1	ARG1 CL E G H	383	663	OMIM:207800	Argininemia			31
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	ARHGAP24 CL E G H	83478	25361	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			4
HP:0002012	HP:0001392	Abnormality of the liver	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	ARHGDIA CL E G H	396	678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			3
HP:0002012	HP:0001392	Abnormality of the liver	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0002012	HP:0001392	Abnormality of the liver	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0002012	HP:0001392	Abnormality of the liver	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0002012	HP:0001392	Abnormality of the liver	1	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0002012	HP:0001392	Abnormality of the liver	1	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome			29
HP:0002012	HP:0001392	Abnormality of the liver	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0002012	HP:0001392	Abnormality of the liver	1	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0002012	HP:0001392	Abnormality of the liver	1	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy			253
HP:0002012	HP:0001392	Abnormality of the liver	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0002012	HP:0001392	Abnormality of the liver	1	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0002012	HP:0001392	Abnormality of the liver	1	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0002012	HP:0001392	Abnormality of the liver	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0002012	HP:0001743	Abnormality of the spleen	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0002012	HP:0001392	Abnormality of the liver	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0002012	HP:0001732	Abnormality of the pancreas	1	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia			166
HP:0002012	HP:0001392	Abnormality of the liver	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0002012	HP:0001743	Abnormality of the spleen	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0002012	HP:0001392	Abnormality of the liver	1	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0002012	HP:0001743	Abnormality of the spleen	1	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0002012	HP:0001392	Abnormality of the liver	1	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria			81
HP:0002012	HP:0001392	Abnormality of the liver	1	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic			119
HP:0002012	HP:0001392	Abnormality of the liver	1	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis			145
HP:0002012	HP:0001743	Abnormality of the spleen	1	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis			145
HP:0002012	HP:0001392	Abnormality of the liver	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0002012	HP:0001732	Abnormality of the pancreas	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0002012	HP:0001732	Abnormality of the pancreas	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0002012	HP:0001392	Abnormality of the liver	1	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			145
HP:0002012	HP:0001743	Abnormality of the spleen	1	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			145
HP:0002012	HP:0001392	Abnormality of the liver	1	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0002012	HP:0001743	Abnormality of the spleen	1	ATM CL E G H	472	795	ORPHA:52416	Mantle cell lymphoma			3267
HP:0002012	HP:0001392	Abnormality of the liver	1	ATP11C CL E G H	286410	13554	OMIM:301015	Hemolytic anemia, congenital, X-linked			1
HP:0002012	HP:0001392	Abnormality of the liver	1	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0002012	HP:0001732	Abnormality of the pancreas	1	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0002012	HP:0001743	Abnormality of the spleen	1	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0002012	HP:0001392	Abnormality of the liver	1	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R			36
HP:0002012	HP:0001392	Abnormality of the liver	1	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0002012	HP:0001743	Abnormality of the spleen	1	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0002012	HP:0001392	Abnormality of the liver	1	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease			192
HP:0002012	HP:0001392	Abnormality of the liver	1	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0002012	HP:0001392	Abnormality of the liver	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0002012	HP:0001392	Abnormality of the liver	1	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease			315
HP:0002012	HP:0001743	Abnormality of the spleen	1	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease			315
HP:0002012	HP:0001743	Abnormality of the spleen	1	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0002012	HP:0001392	Abnormality of the liver	1	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1			144
HP:0002012	HP:0001732	Abnormality of the pancreas	1	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1			144
HP:0002012	HP:0001392	Abnormality of the liver	1	ATP8B1 CL E G H	5205	3706	OMIM:147480	Cholestasis, intrahepatic, of pregnancy, 1			144
HP:0002012	HP:0001392	Abnormality of the liver	1	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0002012	HP:0001743	Abnormality of the spleen	1	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0002012	HP:0001392	Abnormality of the liver	1	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy			144
HP:0002012	HP:0001732	Abnormality of the pancreas	1	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		144
HP:0002012	HP:0001392	Abnormality of the liver	1	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1			32
HP:0002012	HP:0001743	Abnormality of the spleen	1	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome			169
HP:0002012	HP:0001392	Abnormality of the liver	1	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach			169
HP:0002012	HP:0001392	Abnormality of the liver	1	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1			49
HP:0002012	HP:0001392	Abnormality of the liver	1	AXIN1 CL E G H	8312	903	OMIM:114550	Hepatocellular carcinoma			3
HP:0002012	HP:0001392	Abnormality of the liver	1	B2M CL E G H	567	914	OMIM:105200	Amyloidosis, familial visceral			8
HP:0002012	HP:0001743	Abnormality of the spleen	1	B2M CL E G H	567	914	OMIM:105200	Amyloidosis, familial visceral			8
HP:0002012	HP:0001392	Abnormality of the liver	1	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis			8
HP:0002012	HP:0001392	Abnormality of the liver	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0002012	HP:0001392	Abnormality of the liver	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0002012	HP:0001743	Abnormality of the spleen	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0002012	HP:0001392	Abnormality of the liver	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome			28
HP:0002012	HP:0001732	Abnormality of the pancreas	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome			28
HP:0002012	HP:0001743	Abnormality of the spleen	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome			28
HP:0002012	HP:0001392	Abnormality of the liver	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome			34
HP:0002012	HP:0001732	Abnormality of the pancreas	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome			34
HP:0002012	HP:0001743	Abnormality of the spleen	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome			34
HP:0002012	HP:0001392	Abnormality of the liver	1	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10			34
HP:0002012	HP:0001392	Abnormality of the liver	1	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1			63
HP:0002012	HP:0001743	Abnormality of the spleen	1	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0002012	HP:0001732	Abnormality of the pancreas	1	BAP1 CL E G H	8314	950	ORPHA:618	Familial melanoma			184
HP:0002012	HP:0001392	Abnormality of the liver	1	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma			184
HP:0002012	HP:0001732	Abnormality of the pancreas	1	BARD1 CL E G H	580	952	ORPHA:145	Hereditary breast and ovarian cancer syndrome			790
HP:0002012	HP:0001392	Abnormality of the liver	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome			1
HP:0002012	HP:0001392	Abnormality of the liver	1	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome			114
HP:0002012	HP:0001392	Abnormality of the liver	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0002012	HP:0001392	Abnormality of the liver	1	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome			118
HP:0002012	HP:0001392	Abnormality of the liver	1	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome			71
HP:0002012	HP:0001392	Abnormality of the liver	1	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome			97
HP:0002012	HP:0001392	Abnormality of the liver	1	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome			87
HP:0002012	HP:0001392	Abnormality of the liver	1	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome			25
HP:0002012	HP:0001392	Abnormality of the liver	1	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome			66
HP:0002012	HP:0001392	Abnormality of the liver	1	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome			119
HP:0002012	HP:0001392	Abnormality of the liver	1	BCHE CL E G H	590	983	ORPHA:132	Butyrylcholinesterase deficiency	HP:0040284 - Very rare		67
HP:0002012	HP:0001732	Abnormality of the pancreas	1	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease			120
HP:0002012	HP:0001732	Abnormality of the pancreas	1	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease			162
HP:0002012	HP:0001743	Abnormality of the spleen	1	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			11
HP:0002012	HP:0001743	Abnormality of the spleen	1	BCL2 CL E G H	596	990	ORPHA:545	Follicular lymphoma			1
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	BCL2 CL E G H	596	990	ORPHA:545	Follicular lymphoma	HP:0040283 - Occasional		1
HP:0002012	HP:0001743	Abnormality of the spleen	1	BCL6 CL E G H	604	1001	ORPHA:545	Follicular lymphoma			1
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	BCL6 CL E G H	604	1001	ORPHA:545	Follicular lymphoma	HP:0040283 - Occasional		1
HP:0002012	HP:0001392	Abnormality of the liver	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	BCR CL E G H	613	1014	ORPHA:521	Chronic myeloid leukemia			5
HP:0002012	HP:0001392	Abnormality of the liver	1	BCS1L CL E G H	617	1020	OMIM:603358	GRACILE SYNDROME			72
HP:0002012	HP:0001392	Abnormality of the liver	1	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome			72
HP:0002012	HP:0001392	Abnormality of the liver	1	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0002012	HP:0001392	Abnormality of the liver	1	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease			5
HP:0002012	HP:0001732	Abnormality of the pancreas	1	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease			5
HP:0002012	HP:0001392	Abnormality of the liver	1	BLK CL E G H	640	1057	ORPHA:552	MODY			75
HP:0002012	HP:0001732	Abnormality of the pancreas	1	BLK CL E G H	640	1057	ORPHA:552	MODY			75
HP:0002012	HP:0001392	Abnormality of the liver	1	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0002012	HP:0001392	Abnormality of the liver	1	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia			4
HP:0002012	HP:0001392	Abnormality of the liver	1	BLVRA CL E G H	644	1062	OMIM:614156	Hyperbiliverdinemia			2
HP:0002012	HP:0001392	Abnormality of the liver	1	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1			13
HP:0002012	HP:0001743	Abnormality of the spleen	1	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1			13
HP:0002012	HP:0001392	Abnormality of the liver	1	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0002012	HP:0001743	Abnormality of the spleen	1	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0002012	HP:0001392	Abnormality of the liver	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0002012	HP:0001392	Abnormality of the liver	1	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X			385
HP:0002012	HP:0001732	Abnormality of the pancreas	1	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X			385
HP:0002012	HP:0001392	Abnormality of the liver	1	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia			14
HP:0002012	HP:0001743	Abnormality of the spleen	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0002012	HP:0001392	Abnormality of the liver	1	BRCA1 CL E G H	672	1100	ORPHA:70567	Cholangiocarcinoma			5769
HP:0002012	HP:0001392	Abnormality of the liver	1	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma			5769
HP:0002012	HP:0001732	Abnormality of the pancreas	1	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma			5769
HP:0002012	HP:0001743	Abnormality of the spleen	1	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma			5769
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma			5769
HP:0002012	HP:0001392	Abnormality of the liver	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		5769
HP:0002012	HP:0001732	Abnormality of the pancreas	1	BRCA1 CL E G H	672	1100	ORPHA:145	Hereditary breast and ovarian cancer syndrome			5769
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	BRCA1 CL E G H	672	1100	ORPHA:168829	Primary peritoneal carcinoma			5769
HP:0002012	HP:0001392	Abnormality of the liver	1	BRCA2 CL E G H	675	1101	ORPHA:70567	Cholangiocarcinoma			7642
HP:0002012	HP:0001392	Abnormality of the liver	1	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma			7642
HP:0002012	HP:0001732	Abnormality of the pancreas	1	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma			7642
HP:0002012	HP:0001743	Abnormality of the spleen	1	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma			7642
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma			7642
HP:0002012	HP:0001392	Abnormality of the liver	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		7642
HP:0002012	HP:0001732	Abnormality of the pancreas	1	BRCA2 CL E G H	675	1101	ORPHA:145	Hereditary breast and ovarian cancer syndrome			7642
HP:0002012	HP:0001392	Abnormality of the liver	1	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma			7642
HP:0002012	HP:0001732	Abnormality of the pancreas	1	BRCA2 CL E G H	675	1101	OMIM:613347	Pancreatic cancer, susceptibility to, 2			7642
HP:0002012	HP:0001732	Abnormality of the pancreas	1	BRD4 CL E G H	23476	13575	ORPHA:443167	NUT midline carcinoma
HP:0002012	HP:0001392	Abnormality of the liver	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1086
HP:0002012	HP:0001732	Abnormality of the pancreas	1	BRIP1 CL E G H	83990	20473	ORPHA:145	Hereditary breast and ovarian cancer syndrome			1086
HP:0002012	HP:0001392	Abnormality of the liver	1	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0002012	HP:0001392	Abnormality of the liver	1	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy			105
HP:0002012	HP:0001392	Abnormality of the liver	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0002012	HP:0001732	Abnormality of the pancreas	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0002012	HP:0001743	Abnormality of the spleen	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0002012	HP:0001392	Abnormality of the liver	1	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy			105
HP:0002012	HP:0001392	Abnormality of the liver	1	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset			223
HP:0002012	HP:0001743	Abnormality of the spleen	1	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset			223
HP:0002012	HP:0001392	Abnormality of the liver	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked			109
HP:0002012	HP:0001392	Abnormality of the liver	1	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia			109
HP:0002012	HP:0001392	Abnormality of the liver	1	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia			109
HP:0002012	HP:0001392	Abnormality of the liver	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0002012	HP:0001392	Abnormality of the liver	1	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2			1
HP:0002012	HP:0001392	Abnormality of the liver	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0002012	HP:0001392	Abnormality of the liver	1	C1S CL E G H	716	1247	OMIM:613783	Complement component c1s deficiency			7
HP:0002012	HP:0001392	Abnormality of the liver	1	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0002012	HP:0001732	Abnormality of the pancreas	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0002012	HP:0001392	Abnormality of the liver	1	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency			1
HP:0002012	HP:0001392	Abnormality of the liver	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0002012	HP:0001392	Abnormality of the liver	1	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3			29
HP:0002012	HP:0001743	Abnormality of the spleen	1	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3			29
HP:0002012	HP:0001392	Abnormality of the liver	1	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome			1
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	CALR CL E G H	811	1455	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included			1
HP:0002012	HP:0001392	Abnormality of the liver	1	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	CALR CL E G H	811	1455	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA			45
HP:0002012	HP:0001392	Abnormality of the liver	1	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27			35
HP:0002012	HP:0001392	Abnormality of the liver	1	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			118
HP:0002012	HP:0001743	Abnormality of the spleen	1	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			118
HP:0002012	HP:0001392	Abnormality of the liver	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome			87
HP:0002012	HP:0001743	Abnormality of the spleen	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome			87
HP:0002012	HP:0001392	Abnormality of the liver	1	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA			87
HP:0002012	HP:0001743	Abnormality of the spleen	1	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA			87
HP:0002012	HP:0001743	Abnormality of the spleen	1	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY			37
HP:0002012	HP:0001392	Abnormality of the liver	1	CASP8 CL E G H	841	1509	OMIM:114550	Hepatocellular carcinoma			37
HP:0002012	HP:0001392	Abnormality of the liver	1	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis			272
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis			272
HP:0002012	HP:0001392	Abnormality of the liver	1	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe			272
HP:0002012	HP:0001743	Abnormality of the spleen	1	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe			272
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CASR CL E G H	846	1514	OMIM:145980	Hypocalciuric hypercalcemia, familial, type I			272
HP:0002012	HP:0001392	Abnormality of the liver	1	CASR CL E G H	846	1514	ORPHA:417	Neonatal severe primary hyperparathyroidism			272
HP:0002012	HP:0001743	Abnormality of the spleen	1	CASR CL E G H	846	1514	ORPHA:417	Neonatal severe primary hyperparathyroidism			272
HP:0002012	HP:0001392	Abnormality of the liver	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0002012	HP:0001743	Abnormality of the spleen	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0002012	HP:0001392	Abnormality of the liver	1	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0002012	HP:0001392	Abnormality of the liver	1	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3			11
HP:0002012	HP:0001743	Abnormality of the spleen	1	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3			11
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0002012	HP:0001392	Abnormality of the liver	1	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0002012	HP:0001392	Abnormality of the liver	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4			48
HP:0002012	HP:0001743	Abnormality of the spleen	1	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4			48
HP:0002012	HP:0001392	Abnormality of the liver	1	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis			317
HP:0002012	HP:0001743	Abnormality of the spleen	1	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis			317
HP:0002012	HP:0001392	Abnormality of the liver	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0002012	HP:0001743	Abnormality of the spleen	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		317
HP:0002012	HP:0001392	Abnormality of the liver	1	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria			242
HP:0002012	HP:0001392	Abnormality of the liver	1	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0002012	HP:0001392	Abnormality of the liver	1	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2			247
HP:0002012	HP:0001392	Abnormality of the liver	1	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0002012	HP:0001392	Abnormality of the liver	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0002012	HP:0001743	Abnormality of the spleen	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0002012	HP:0001392	Abnormality of the liver	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome			247
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome			247
HP:0002012	HP:0001743	Abnormality of the spleen	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome			247
HP:0002012	HP:0001392	Abnormality of the liver	1	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6			247
HP:0002012	HP:0001743	Abnormality of the spleen	1	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0002012	HP:0001743	Abnormality of the spleen	1	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0002012	HP:0001392	Abnormality of the liver	1	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO			3
HP:0002012	HP:0001743	Abnormality of the spleen	1	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO			3
HP:0002012	HP:0001392	Abnormality of the liver	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0002012	HP:0001743	Abnormality of the spleen	1	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0002012	HP:0011620	Abnormality of abdominal situs	1	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14			126
HP:0002012	HP:0001743	Abnormality of the spleen	1	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0002012	HP:0001743	Abnormality of the spleen	1	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0002012	HP:0001392	Abnormality of the liver	1	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0002012	HP:0001743	Abnormality of the spleen	1	CCND1 CL E G H	595	1582	ORPHA:52416	Mantle cell lymphoma			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma			1
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0002012	HP:0001392	Abnormality of the liver	1	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome	.		1
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0002012	HP:0001743	Abnormality of the spleen	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0002012	HP:0001392	Abnormality of the liver	1	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		38
HP:0002012	HP:0001743	Abnormality of the spleen	1	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency			38
HP:0002012	HP:0001392	Abnormality of the liver	1	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2			38
HP:0002012	HP:0001743	Abnormality of the spleen	1	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2			38
HP:0002012	HP:0001392	Abnormality of the liver	1	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			8
HP:0002012	HP:0001743	Abnormality of the spleen	1	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			8
HP:0002012	HP:0001392	Abnormality of the liver	1	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			8
HP:0002012	HP:0001743	Abnormality of the spleen	1	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			8
HP:0002012	HP:0001392	Abnormality of the liver	1	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2			4
HP:0002012	HP:0001743	Abnormality of the spleen	1	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2			4
HP:0002012	HP:0001392	Abnormality of the liver	1	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides
HP:0002012	HP:0001743	Abnormality of the spleen	1	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides
HP:0002012	HP:0001392	Abnormality of the liver	1	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	CD2AP CL E G H	23607	14258	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			105
HP:0002012	HP:0001392	Abnormality of the liver	1	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			18
HP:0002012	HP:0001743	Abnormality of the spleen	1	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			18
HP:0002012	HP:0001392	Abnormality of the liver	1	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			24
HP:0002012	HP:0001743	Abnormality of the spleen	1	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			24
HP:0002012	HP:0001392	Abnormality of the liver	1	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0002012	HP:0001743	Abnormality of the spleen	1	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0002012	HP:0001392	Abnormality of the liver	1	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy			9
HP:0002012	HP:0001392	Abnormality of the liver	1	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0002012	HP:0001743	Abnormality of the spleen	1	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0002012	HP:0001392	Abnormality of the liver	1	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia			9
HP:0002012	HP:0001392	Abnormality of the liver	1	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia			6
HP:0002012	HP:0001392	Abnormality of the liver	1	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		1
HP:0002012	HP:0001743	Abnormality of the spleen	1	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency			1
HP:0002012	HP:0001392	Abnormality of the liver	1	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6			1
HP:0002012	HP:0001392	Abnormality of the liver	1	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome			83
HP:0002012	HP:0001392	Abnormality of the liver	1	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia			86
HP:0002012	HP:0001743	Abnormality of the spleen	1	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia			86
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2			169
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome			169
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0002012	HP:0001392	Abnormality of the liver	1	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib
HP:0002012	HP:0001743	Abnormality of the spleen	1	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CDK4 CL E G H	1019	1773	ORPHA:618	Familial melanoma			145
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0002012	HP:0001392	Abnormality of the liver	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0002012	HP:0001392	Abnormality of the liver	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CDKN2A CL E G H	1029	1787	ORPHA:618	Familial melanoma			289
HP:0002012	HP:0001392	Abnormality of the liver	1	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma			289
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma			289
HP:0002012	HP:0001743	Abnormality of the spleen	1	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma			289
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma			289
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome			289
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CDKN2A CL E G H	1029	1787	OMIM:606719	Melanoma-Pancreatic cancer syndrome			289
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CDKN2B CL E G H	1030	1788	ORPHA:618	Familial melanoma			1
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0002012	HP:0001743	Abnormality of the spleen	1	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11			200
HP:0002012	HP:0001392	Abnormality of the liver	1	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0001392	Abnormality of the liver	1	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CEL CL E G H	1056	1848	OMIM:609812	Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction			25
HP:0002012	HP:0001392	Abnormality of the liver	1	CEL CL E G H	1056	1848	ORPHA:552	MODY			25
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CEL CL E G H	1056	1848	ORPHA:552	MODY			25
HP:0002012	HP:0001743	Abnormality of the spleen	1	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome			27
HP:0002012	HP:0001392	Abnormality of the liver	1	CEP120 CL E G H	153241	26690	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		7
HP:0002012	HP:0001392	Abnormality of the liver	1	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome			34
HP:0002012	HP:0001392	Abnormality of the liver	1	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome			1
HP:0002012	HP:0001392	Abnormality of the liver	1	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure			1
HP:0002012	HP:0001392	Abnormality of the liver	1	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome			342
HP:0002012	HP:0001392	Abnormality of the liver	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome			342
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome			342
HP:0002012	HP:0001743	Abnormality of the spleen	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome			342
HP:0002012	HP:0001392	Abnormality of the liver	1	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4			342
HP:0002012	HP:0001392	Abnormality of the liver	1	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome			342
HP:0002012	HP:0001392	Abnormality of the liver	1	CEP83 CL E G H	51134	17966	OMIM:615862	Nephronophthisis 18			10
HP:0002012	HP:0001743	Abnormality of the spleen	1	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0001743	Abnormality of the spleen	1	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0001743	Abnormality of the spleen	1	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0001743	Abnormality of the spleen	1	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0002012	HP:0001392	Abnormality of the liver	1	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0002012	HP:0011620	Abnormality of abdominal situs	1	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0002012	HP:0011620	Abnormality of abdominal situs	1	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal			17
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	CFB CL E G H	629	1037	OMIM:615561	COMPLEMENT FACTOR B DEFICIENCY; CFBD			30
HP:0002012	HP:0001743	Abnormality of the spleen	1	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal			13
HP:0002012	HP:0011620	Abnormality of abdominal situs	1	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal			13
HP:0002012	HP:0001392	Abnormality of the liver	1	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0002012	HP:0001392	Abnormality of the liver	1	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0002012	HP:0001743	Abnormality of the spleen	1	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0002012	HP:0001392	Abnormality of the liver	1	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis			1371
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis			1371
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary			1371
HP:0002012	HP:0001392	Abnormality of the liver	1	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome			515
HP:0002012	HP:0001743	Abnormality of the spleen	1	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome			515
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CHEK2 CL E G H	11200	16627	ORPHA:145	Hereditary breast and ovarian cancer syndrome			833
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome			833
HP:0002012	HP:0100016	Abnormality of mesentery morphology	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040283 - Occasional		27
HP:0002012	HP:0001392	Abnormality of the liver	1	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy			8
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy			8
HP:0002012	HP:0001392	Abnormality of the liver	1	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5			8
HP:0002012	HP:0001392	Abnormality of the liver	1	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II			118
HP:0002012	HP:0001392	Abnormality of the liver	1	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II			118
HP:0002012	HP:0011620	Abnormality of abdominal situs	1	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0002012	HP:0100016	Abnormality of mesentery morphology	1	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040282 - Frequent		3
HP:0002012	HP:0001392	Abnormality of the liver	1	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0001392	Abnormality of the liver	1	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0002012	HP:0001743	Abnormality of the spleen	1	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0002012	HP:0001392	Abnormality of the liver	1	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0002012	HP:0001743	Abnormality of the spleen	1	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0002012	HP:0001392	Abnormality of the liver	1	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis			102
HP:0002012	HP:0001743	Abnormality of the spleen	1	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis			102
HP:0002012	HP:0001392	Abnormality of the liver	1	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4			102
HP:0002012	HP:0001743	Abnormality of the spleen	1	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4			102
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0002012	HP:0001392	Abnormality of the liver	1	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis			11
HP:0002012	HP:0001392	Abnormality of the liver	1	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome			11
HP:0002012	HP:0001743	Abnormality of the spleen	1	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome			11
HP:0002012	HP:0001392	Abnormality of the liver	1	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis			3
HP:0002012	HP:0001392	Abnormality of the liver	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7			38
HP:0002012	HP:0001392	Abnormality of the liver	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0002012	HP:0001743	Abnormality of the spleen	1	CLPB CL E G H	81570	30664	OMIM:619813	NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; SCN9			38
HP:0002012	HP:0001392	Abnormality of the liver	1	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome			2
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome			2
HP:0002012	HP:0001392	Abnormality of the liver	1	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0002012	HP:0001392	Abnormality of the liver	1	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0002012	HP:0001392	Abnormality of the liver	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0002012	HP:0001743	Abnormality of the spleen	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0002012	HP:0001392	Abnormality of the liver	1	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG			67
HP:0002012	HP:0001743	Abnormality of the spleen	1	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG			67
HP:0002012	HP:0001392	Abnormality of the liver	1	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj			67
HP:0002012	HP:0001743	Abnormality of the spleen	1	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj			67
HP:0002012	HP:0001392	Abnormality of the liver	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0002012	HP:0001743	Abnormality of the spleen	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0002012	HP:0001392	Abnormality of the liver	1	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0002012	HP:0001743	Abnormality of the spleen	1	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0002012	HP:0001392	Abnormality of the liver	1	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome			71
HP:0002012	HP:0001392	Abnormality of the liver	1	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0002012	HP:0001743	Abnormality of the spleen	1	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0002012	HP:0001392	Abnormality of the liver	1	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0002012	HP:0001743	Abnormality of the spleen	1	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0002012	HP:0001392	Abnormality of the liver	1	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0002012	HP:0001732	Abnormality of the pancreas	1	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1			2
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	COL4A3 CL E G H	1285	2204	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			161
HP:0002012	HP:0001392	Abnormality of the liver	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0002012	HP:0001743	Abnormality of the spleen	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	COQ8B CL E G H	79934	19041	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			35
HP:0002012	HP:0001392	Abnormality of the liver	1	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia			5
HP:0002012	HP:0001732	Abnormality of the pancreas	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0002012	HP:0001743	Abnormality of the spleen	1	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0002012	HP:0001392	Abnormality of the liver	1	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10			4
HP:0002012	HP:0001392	Abnormality of the liver	1	COX15 CL E G H	1355	2263	OMIM:615119	Mitochondrial complex IV deficiency, nuclear type 6			104
HP:0002012	HP:0001732	Abnormality of the pancreas	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0002012	HP:0001732	Abnormality of the pancreas	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0002012	HP:0001392	Abnormality of the liver	1	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis			13
HP:0002012	HP:0001732	Abnormality of the pancreas	1	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis			13
HP:0002012	HP:0001743	Abnormality of the spleen	1	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis			13
HP:0002012	HP:0001392	Abnormality of the liver	1	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0002012	HP:0001392	Abnormality of the liver	1	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia			115
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia			115
HP:0002012	HP:0001392	Abnormality of the liver	1	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis			5
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis			5
HP:0002012	HP:0001392	Abnormality of the liver	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0002012	HP:0001392	Abnormality of the liver	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0002012	HP:0011620	Abnormality of abdominal situs	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0002012	HP:0001392	Abnormality of the liver	1	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria			72
HP:0002012	HP:0001743	Abnormality of the spleen	1	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria			72
HP:0002012	HP:0001392	Abnormality of the liver	1	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria			72
HP:0002012	HP:0001743	Abnormality of the spleen	1	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria			72
HP:0002012	HP:0001392	Abnormality of the liver	1	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria			72
HP:0002012	HP:0001392	Abnormality of the liver	1	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency			99
HP:0002012	HP:0001392	Abnormality of the liver	1	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency			99
HP:0002012	HP:0001392	Abnormality of the liver	1	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form			101
HP:0002012	HP:0001392	Abnormality of the liver	1	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form			101
HP:0002012	HP:0001392	Abnormality of the liver	1	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile			101
HP:0002012	HP:0001392	Abnormality of the liver	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0002012	HP:0001392	Abnormality of the liver	1	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		10
HP:0002012	HP:0001743	Abnormality of the spleen	1	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency			10
HP:0002012	HP:0001392	Abnormality of the liver	1	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2			10
HP:0002012	HP:0001743	Abnormality of the spleen	1	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2			10
HP:0002012	HP:0001743	Abnormality of the spleen	1	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7			10
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	CRB2 CL E G H	286204	18688	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			12
HP:0002012	HP:0001392	Abnormality of the liver	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0002012	HP:0001743	Abnormality of the spleen	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0002012	HP:0001392	Abnormality of the liver	1	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary			34
HP:0002012	HP:0001743	Abnormality of the spleen	1	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary			34
HP:0002012	HP:0001392	Abnormality of the liver	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome			57
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome			57
HP:0002012	HP:0001743	Abnormality of the spleen	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome			57
HP:0002012	HP:0001392	Abnormality of the liver	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0002012	HP:0001392	Abnormality of the liver	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0002012	HP:0001743	Abnormality of the spleen	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0002012	HP:0011620	Abnormality of abdominal situs	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0002012	HP:0001392	Abnormality of the liver	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0002012	HP:0001743	Abnormality of the spleen	1	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0002012	HP:0001392	Abnormality of the liver	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0002012	HP:0001392	Abnormality of the liver	1	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5			10
HP:0002012	HP:0001743	Abnormality of the spleen	1	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5			10
HP:0002012	HP:0001392	Abnormality of the liver	1	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides			10
HP:0002012	HP:0001743	Abnormality of the spleen	1	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides			10
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis			10
HP:0002012	HP:0001392	Abnormality of the liver	1	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome			10
HP:0002012	HP:0001743	Abnormality of the spleen	1	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome			10
HP:0002012	HP:0001392	Abnormality of the liver	1	CTNNB1 CL E G H	1499	2514	OMIM:114550	Hepatocellular carcinoma			88
HP:0002012	HP:0001392	Abnormality of the liver	1	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma			88
HP:0002012	HP:0001392	Abnormality of the liver	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0002012	HP:0001743	Abnormality of the spleen	1	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0002012	HP:0001392	Abnormality of the liver	1	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis			39
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis			39
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary			39
HP:0002012	HP:0001392	Abnormality of the liver	1	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0002012	HP:0001392	Abnormality of the liver	1	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0002012	HP:0001743	Abnormality of the spleen	1	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0002012	HP:0001392	Abnormality of the liver	1	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome			50
HP:0002012	HP:0001392	Abnormality of the liver	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0002012	HP:0001743	Abnormality of the spleen	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0002012	HP:0001392	Abnormality of the liver	1	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease			27
HP:0002012	HP:0001743	Abnormality of the spleen	1	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease			27
HP:0002012	HP:0001392	Abnormality of the liver	1	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE			27
HP:0002012	HP:0001743	Abnormality of the spleen	1	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE			27
HP:0002012	HP:0001392	Abnormality of the liver	1	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease			111
HP:0002012	HP:0001743	Abnormality of the spleen	1	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease			111
HP:0002012	HP:0001392	Abnormality of the liver	1	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked			111
HP:0002012	HP:0001743	Abnormality of the spleen	1	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked			111
HP:0002012	HP:0001392	Abnormality of the liver	1	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease
HP:0002012	HP:0001743	Abnormality of the spleen	1	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease
HP:0002012	HP:0001392	Abnormality of the liver	1	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0002012	HP:0001732	Abnormality of the pancreas	1	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0002012	HP:0001743	Abnormality of the spleen	1	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0002012	HP:0001392	Abnormality of the liver	1	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0002012	HP:0001392	Abnormality of the liver	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0002012	HP:0001392	Abnormality of the liver	1	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0002012	HP:0001392	Abnormality of the liver	1	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency			11
HP:0002012	HP:0001392	Abnormality of the liver	1	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3			57
HP:0002012	HP:0001743	Abnormality of the spleen	1	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3			57
HP:0002012	HP:0001392	Abnormality of the liver	1	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3			57
HP:0002012	HP:0001743	Abnormality of the spleen	1	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3			57
HP:0002012	HP:0001392	Abnormality of the liver	1	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	DAAM2 CL E G H	23500	18143	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0002012	HP:0001732	Abnormality of the pancreas	1	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease			156
HP:0002012	HP:0001392	Abnormality of the liver	1	DCDC2 CL E G H	51473	18141	OMIM:616217	Nephronophthisis 19			8
HP:0002012	HP:0001743	Abnormality of the spleen	1	DCDC2 CL E G H	51473	18141	OMIM:616217	Nephronophthisis 19			8
HP:0002012	HP:0001392	Abnormality of the liver	1	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal			8
HP:0002012	HP:0001743	Abnormality of the spleen	1	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal			8
HP:0002012	HP:0001392	Abnormality of the liver	1	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0002012	HP:0001743	Abnormality of the spleen	1	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0002012	HP:0001392	Abnormality of the liver	1	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome			94
HP:0002012	HP:0001392	Abnormality of the liver	1	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome			94
HP:0002012	HP:0001743	Abnormality of the spleen	1	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome			94
HP:0002012	HP:0001743	Abnormality of the spleen	1	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome			94
HP:0002012	HP:0001392	Abnormality of the liver	1	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation			94
HP:0002012	HP:0001743	Abnormality of the spleen	1	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation			94
HP:0002012	HP:0001392	Abnormality of the liver	1	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0001732	Abnormality of the pancreas	1	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0001392	Abnormality of the liver	1	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG			62
HP:0002012	HP:0001392	Abnormality of the liver	1	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0002012	HP:0001392	Abnormality of the liver	1	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0002012	HP:0001743	Abnormality of the spleen	1	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0002012	HP:0001743	Abnormality of the spleen	1	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0002012	HP:0001392	Abnormality of the liver	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002012	HP:0001392	Abnormality of the liver	1	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)			57
HP:0002012	HP:0001743	Abnormality of the spleen	1	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)			57
HP:0002012	HP:0001392	Abnormality of the liver	1	DGUOK CL E G H	1716	2858	OMIM:617068	Portal hypertension, noncirrhotic			57
HP:0002012	HP:0001743	Abnormality of the spleen	1	DGUOK CL E G H	1716	2858	OMIM:617068	Portal hypertension, noncirrhotic			57
HP:0002012	HP:0001743	Abnormality of the spleen	1	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis			72
HP:0002012	HP:0001392	Abnormality of the liver	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0002012	HP:0001392	Abnormality of the liver	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0002012	HP:0001743	Abnormality of the spleen	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0002012	HP:0001392	Abnormality of the liver	1	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59			47
HP:0002012	HP:0001392	Abnormality of the liver	1	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency			7
HP:0002012	HP:0001392	Abnormality of the liver	1	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma			164
HP:0002012	HP:0001392	Abnormality of the liver	1	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome			164
HP:0002012	HP:0001732	Abnormality of the pancreas	1	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome			164
HP:0002012	HP:0001732	Abnormality of the pancreas	1	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome			164
HP:0002012	HP:0001392	Abnormality of the liver	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0002012	HP:0001732	Abnormality of the pancreas	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0002012	HP:0001743	Abnormality of the spleen	1	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0002012	HP:0001392	Abnormality of the liver	1	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0002012	HP:0001392	Abnormality of the liver	1	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency			89
HP:0002012	HP:0001392	Abnormality of the liver	1	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency			89
HP:0002012	HP:0001392	Abnormality of the liver	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002012	HP:0001392	Abnormality of the liver	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0002012	HP:0001392	Abnormality of the liver	1	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6			9
HP:0002012	HP:0001743	Abnormality of the spleen	1	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6			9
HP:0002012	HP:0001392	Abnormality of the liver	1	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1			152
HP:0002012	HP:0001743	Abnormality of the spleen	1	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0002012	HP:0001743	Abnormality of the spleen	1	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0001743	Abnormality of the spleen	1	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0002012	HP:0001743	Abnormality of the spleen	1	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0002012	HP:0001743	Abnormality of the spleen	1	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0002012	HP:0001743	Abnormality of the spleen	1	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0002012	HP:0001743	Abnormality of the spleen	1	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0001743	Abnormality of the spleen	1	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0002012	HP:0001743	Abnormality of the spleen	1	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0002012	HP:0001743	Abnormality of the spleen	1	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0002012	HP:0001743	Abnormality of the spleen	1	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0002012	HP:0001743	Abnormality of the spleen	1	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1			73
HP:0002012	HP:0001743	Abnormality of the spleen	1	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0002012	HP:0001743	Abnormality of the spleen	1	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0002012	HP:0001392	Abnormality of the liver	1	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0002012	HP:0001732	Abnormality of the pancreas	1	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0002012	HP:0001392	Abnormality of the liver	1	DNAJB11 CL E G H	51726	14889	OMIM:618061	Polycystic kidney disease 6 with or without polycystic liver disease
HP:0002012	HP:0001743	Abnormality of the spleen	1	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0002012	HP:0001392	Abnormality of the liver	1	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V			25
HP:0002012	HP:0001392	Abnormality of the liver	1	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0002012	HP:0001732	Abnormality of the pancreas	1	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0002012	HP:0001392	Abnormality of the liver	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome			5
HP:0002012	HP:0001732	Abnormality of the pancreas	1	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome			5
HP:0002012	HP:0001392	Abnormality of the liver	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1			5
HP:0002012	HP:0001732	Abnormality of the pancreas	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1			5
HP:0002012	HP:0001392	Abnormality of the liver	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0002012	HP:0001392	Abnormality of the liver	1	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis			3
HP:0002012	HP:0001743	Abnormality of the spleen	1	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis			3
HP:0002012	HP:0001392	Abnormality of the liver	1	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0002012	HP:0001743	Abnormality of the spleen	1	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0002012	HP:0001392	Abnormality of the liver	1	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40			6
HP:0002012	HP:0001392	Abnormality of the liver	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0002012	HP:0001392	Abnormality of the liver	1	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij			38
HP:0002012	HP:0001392	Abnormality of the liver	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0002012	HP:0001392	Abnormality of the liver	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0002012	HP:0001743	Abnormality of the spleen	1	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0002012	HP:0001392	Abnormality of the liver	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0002012	HP:0001743	Abnormality of the spleen	1	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0002012	HP:0001392	Abnormality of the liver	1	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0002012	HP:0001743	Abnormality of the spleen	1	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0002012	HP:0100016	Abnormality of mesentery morphology	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040283 - Occasional		13
HP:0002012	HP:0001392	Abnormality of the liver	1	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis			121
HP:0002012	HP:0001392	Abnormality of the liver	1	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism			121
HP:0002012	HP:0001392	Abnormality of the liver	1	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis			11
HP:0002012	HP:0001392	Abnormality of the liver	1	DYNC2H1 CL E G H	79659	2962	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		304
HP:0002012	HP:0001392	Abnormality of the liver	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			304
HP:0002012	HP:0001392	Abnormality of the liver	1	DYNC2I1 CL E G H	55112	21862	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001732	Abnormality of the pancreas	1	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI
HP:0002012	HP:0001392	Abnormality of the liver	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0002012	HP:0001392	Abnormality of the liver	1	DYNC2I2 CL E G H	89891	28296	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001392	Abnormality of the liver	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0002012	HP:0001392	Abnormality of the liver	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		7
HP:0002012	HP:0001392	Abnormality of the liver	1	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0002012	HP:0001743	Abnormality of the spleen	1	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0002012	HP:0001392	Abnormality of the liver	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0002012	HP:0001732	Abnormality of the pancreas	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0002012	HP:0001743	Abnormality of the spleen	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0002012	HP:0001392	Abnormality of the liver	1	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5			4
HP:0002012	HP:0001743	Abnormality of the spleen	1	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5			4
HP:0002012	HP:0001392	Abnormality of the liver	1	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12			80
HP:0002012	HP:0001392	Abnormality of the liver	1	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0002012	HP:0001732	Abnormality of the pancreas	1	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0002012	HP:0001392	Abnormality of the liver	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome			1
HP:0002012	HP:0001732	Abnormality of the pancreas	1	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome			1
HP:0002012	HP:0001392	Abnormality of the liver	1	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2			1
HP:0002012	HP:0001732	Abnormality of the pancreas	1	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2			1
HP:0002012	HP:0001392	Abnormality of the liver	1	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0002012	HP:0001732	Abnormality of the pancreas	1	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0002012	HP:0001392	Abnormality of the liver	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040281 - Very frequent		65
HP:0002012	HP:0001732	Abnormality of the pancreas	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0002012	HP:0001392	Abnormality of the liver	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia			79
HP:0002012	HP:0001392	Abnormality of the liver	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0002012	HP:0001392	Abnormality of the liver	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	ELP1 CL E G H	8518	5959	ORPHA:1764	Familial dysautonomia	HP:0040283 - Occasional		133
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	EMP2 CL E G H	2013	3334	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			4
HP:0002012	HP:0001392	Abnormality of the liver	1	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia			186
HP:0002012	HP:0001392	Abnormality of the liver	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1			186
HP:0002012	HP:0001392	Abnormality of the liver	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0002012	HP:0001732	Abnormality of the pancreas	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0002012	HP:0001392	Abnormality of the liver	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0002012	HP:0001392	Abnormality of the liver	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0002012	HP:0001743	Abnormality of the spleen	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0002012	HP:0001392	Abnormality of the liver	1	EPB41 CL E G H	2035	3377	OMIM:611804	Elliptocytosis 1			6
HP:0002012	HP:0001743	Abnormality of the spleen	1	EPB41 CL E G H	2035	3377	OMIM:611804	Elliptocytosis 1			6
HP:0002012	HP:0001392	Abnormality of the liver	1	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis			6
HP:0002012	HP:0001743	Abnormality of the spleen	1	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis			6
HP:0002012	HP:0001392	Abnormality of the liver	1	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis			51
HP:0002012	HP:0001743	Abnormality of the spleen	1	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis			51
HP:0002012	HP:0001392	Abnormality of the liver	1	EPB42 CL E G H	2038	3381	OMIM:612690	SPHEROCYTOSIS, TYPE 5; SPH5			51
HP:0002012	HP:0001743	Abnormality of the spleen	1	EPB42 CL E G H	2038	3381	OMIM:612690	SPHEROCYTOSIS, TYPE 5; SPH5			51
HP:0002012	HP:0001392	Abnormality of the liver	1	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy			170
HP:0002012	HP:0001392	Abnormality of the liver	1	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome			170
HP:0002012	HP:0001732	Abnormality of the pancreas	1	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome			170
HP:0002012	HP:0001732	Abnormality of the pancreas	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0002012	HP:0001392	Abnormality of the liver	1	ERBB3 CL E G H	2065	3431	OMIM:133180	Erythroleukemia, familial, susceptibility to			12
HP:0002012	HP:0001743	Abnormality of the spleen	1	ERBB3 CL E G H	2065	3431	OMIM:133180	Erythroleukemia, familial, susceptibility to			12
HP:0002012	HP:0001392	Abnormality of the liver	1	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2			20
HP:0002012	HP:0001392	Abnormality of the liver	1	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0002012	HP:0001392	Abnormality of the liver	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		158
HP:0002012	HP:0001392	Abnormality of the liver	1	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q			158
HP:0002012	HP:0001392	Abnormality of the liver	1	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0002012	HP:0001392	Abnormality of the liver	1	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2			199
HP:0002012	HP:0001392	Abnormality of the liver	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0002012	HP:0001743	Abnormality of the spleen	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0002012	HP:0001392	Abnormality of the liver	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0002012	HP:0001743	Abnormality of the spleen	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0002012	HP:0001392	Abnormality of the liver	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0002012	HP:0001743	Abnormality of the spleen	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0002012	HP:0001392	Abnormality of the liver	1	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0002012	HP:0001392	Abnormality of the liver	1	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2			55
HP:0002012	HP:0001392	Abnormality of the liver	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0002012	HP:0001743	Abnormality of the spleen	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0002012	HP:0001392	Abnormality of the liver	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0002012	HP:0001743	Abnormality of the spleen	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0002012	HP:0001392	Abnormality of the liver	1	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			37
HP:0002012	HP:0001392	Abnormality of the liver	1	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			27
HP:0002012	HP:0001392	Abnormality of the liver	1	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			77
HP:0002012	HP:0001392	Abnormality of the liver	1	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor
HP:0002012	HP:0001732	Abnormality of the pancreas	1	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040281 - Very frequent
HP:0002012	HP:0001743	Abnormality of the spleen	1	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0002012	HP:0001392	Abnormality of the liver	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities			3
HP:0002012	HP:0001392	Abnormality of the liver	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency			33
HP:0002012	HP:0001392	Abnormality of the liver	1	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome			159
HP:0002012	HP:0001392	Abnormality of the liver	1	F5 CL E G H	2153	3542	OMIM:600880	Budd-Chiari syndrome			159
HP:0002012	HP:0001743	Abnormality of the spleen	1	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome			159
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome			159
HP:0002012	HP:0001392	Abnormality of the liver	1	FADD CL E G H	8772	3573	ORPHA:306550	FADD-related immunodeficiency			3
HP:0002012	HP:0001392	Abnormality of the liver	1	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS			3
HP:0002012	HP:0001392	Abnormality of the liver	1	FAH CL E G H	2184	3579	ORPHA:882	Tyrosinemia type 1			107
HP:0002012	HP:0001743	Abnormality of the spleen	1	FAH CL E G H	2184	3579	ORPHA:882	Tyrosinemia type 1			107
HP:0002012	HP:0001392	Abnormality of the liver	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0002012	HP:0001732	Abnormality of the pancreas	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0002012	HP:0001743	Abnormality of the spleen	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0002012	HP:0001743	Abnormality of the spleen	1	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia			8
HP:0002012	HP:0001392	Abnormality of the liver	1	FAM111B CL E G H	374393	24200	OMIM:615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis			6
HP:0002012	HP:0001392	Abnormality of the liver	1	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome			15
HP:0002012	HP:0001732	Abnormality of the pancreas	1	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome			15
HP:0002012	HP:0001392	Abnormality of the liver	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		340
HP:0002012	HP:0001392	Abnormality of the liver	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		58
HP:0002012	HP:0001392	Abnormality of the liver	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		410
HP:0002012	HP:0001392	Abnormality of the liver	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		147
HP:0002012	HP:0001732	Abnormality of the pancreas	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0002012	HP:0001392	Abnormality of the liver	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0002012	HP:0001392	Abnormality of the liver	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		87
HP:0002012	HP:0001392	Abnormality of the liver	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0002012	HP:0001392	Abnormality of the liver	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		157
HP:0002012	HP:0001392	Abnormality of the liver	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		53
HP:0002012	HP:0001392	Abnormality of the liver	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		107
HP:0002012	HP:0001392	Abnormality of the liver	1	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14			36
HP:0002012	HP:0001392	Abnormality of the liver	1	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0002012	HP:0001743	Abnormality of the spleen	1	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0002012	HP:0001392	Abnormality of the liver	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002012	HP:0001392	Abnormality of the liver	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome			59
HP:0002012	HP:0001392	Abnormality of the liver	1	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome			59
HP:0002012	HP:0001743	Abnormality of the spleen	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome			59
HP:0002012	HP:0001743	Abnormality of the spleen	1	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome			59
HP:0002012	HP:0001732	Abnormality of the pancreas	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0002012	HP:0001743	Abnormality of the spleen	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0002012	HP:0001392	Abnormality of the liver	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome			37
HP:0002012	HP:0001392	Abnormality of the liver	1	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome			37
HP:0002012	HP:0001743	Abnormality of the spleen	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome			37
HP:0002012	HP:0001743	Abnormality of the spleen	1	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome			37
HP:0002012	HP:0001743	Abnormality of the spleen	1	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0002012	HP:0001392	Abnormality of the liver	1	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2			1361
HP:0002012	HP:0001392	Abnormality of the liver	1	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency			64
HP:0002012	HP:0001392	Abnormality of the liver	1	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency			64
HP:0002012	HP:0001392	Abnormality of the liver	1	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0002012	HP:0001732	Abnormality of the pancreas	1	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0002012	HP:0001743	Abnormality of the spleen	1	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0002012	HP:0001392	Abnormality of the liver	1	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia			5
HP:0002012	HP:0001743	Abnormality of the spleen	1	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0002012	HP:0001392	Abnormality of the liver	1	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0002012	HP:0001392	Abnormality of the liver	1	FECH CL E G H	2235	3647	ORPHA:79278	Autosomal erythropoietic protoporphyria			145
HP:0002012	HP:0001392	Abnormality of the liver	1	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1			145
HP:0002012	HP:0001392	Abnormality of the liver	1	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III			23
HP:0002012	HP:0001743	Abnormality of the spleen	1	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III			23
HP:0002012	HP:0001743	Abnormality of the spleen	1	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included			47
HP:0002012	HP:0001392	Abnormality of the liver	1	FGA CL E G H	2243	3661	OMIM:105200	Amyloidosis, familial visceral			47
HP:0002012	HP:0001743	Abnormality of the spleen	1	FGA CL E G H	2243	3661	OMIM:105200	Amyloidosis, familial visceral			47
HP:0002012	HP:0001743	Abnormality of the spleen	1	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included			62
HP:0002012	HP:0001392	Abnormality of the liver	1	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome			175
HP:0002012	HP:0001743	Abnormality of the spleen	1	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome			175
HP:0002012	HP:0001732	Abnormality of the pancreas	1	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040281 - Very frequent		175
HP:0002012	HP:0001392	Abnormality of the liver	1	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0002012	HP:0001743	Abnormality of the spleen	1	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0002012	HP:0001392	Abnormality of the liver	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included			34
HP:0002012	HP:0001392	Abnormality of the liver	1	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency			301
HP:0002012	HP:0001392	Abnormality of the liver	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0002012	HP:0001732	Abnormality of the pancreas	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0002012	HP:0001392	Abnormality of the liver	1	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0002012	HP:0001732	Abnormality of the pancreas	1	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0002012	HP:0001732	Abnormality of the pancreas	1	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I			233
HP:0002012	HP:0001392	Abnormality of the liver	1	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy			197
HP:0002012	HP:0001392	Abnormality of the liver	1	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia			11
HP:0002012	HP:0001743	Abnormality of the spleen	1	FMO3 CL E G H	2328	3771	OMIM:602079	Trimethylaminuria			55
HP:0002012	HP:0001392	Abnormality of the liver	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0001732	Abnormality of the pancreas	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0001743	Abnormality of the spleen	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0001392	Abnormality of the liver	1	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0002012	HP:0001732	Abnormality of the pancreas	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0002012	HP:0001743	Abnormality of the spleen	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0002012	HP:0001392	Abnormality of the liver	1	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0002012	HP:0001732	Abnormality of the pancreas	1	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0002012	HP:0001743	Abnormality of the spleen	1	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0002012	HP:0011620	Abnormality of abdominal situs	1	FOXJ1 CL E G H	2302	3816	OMIM:618699	CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0002012	HP:0001743	Abnormality of the spleen	1	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0001392	Abnormality of the liver	1	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome			32
HP:0002012	HP:0001743	Abnormality of the spleen	1	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome			32
HP:0002012	HP:0001392	Abnormality of the liver	1	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked			32
HP:0002012	HP:0001392	Abnormality of the liver	1	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0002012	HP:0001392	Abnormality of the liver	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0002012	HP:0001392	Abnormality of the liver	1	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis			43
HP:0002012	HP:0001743	Abnormality of the spleen	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0002012	HP:0001392	Abnormality of the liver	1	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0002012	HP:0001732	Abnormality of the pancreas	1	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0002012	HP:0001392	Abnormality of the liver	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0002012	HP:0001743	Abnormality of the spleen	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0002012	HP:0001392	Abnormality of the liver	1	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			101
HP:0002012	HP:0001743	Abnormality of the spleen	1	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			101
HP:0002012	HP:0001392	Abnormality of the liver	1	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset			407
HP:0002012	HP:0001392	Abnormality of the liver	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II			407
HP:0002012	HP:0001743	Abnormality of the spleen	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II			407
HP:0002012	HP:0001392	Abnormality of the liver	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0002012	HP:0001732	Abnormality of the pancreas	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0002012	HP:0001743	Abnormality of the spleen	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0002012	HP:0001392	Abnormality of the liver	1	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency			52
HP:0002012	HP:0001743	Abnormality of the spleen	1	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency			52
HP:0002012	HP:0001392	Abnormality of the liver	1	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency			23
HP:0002012	HP:0001392	Abnormality of the liver	1	GALK1 CL E G H	2584	4118	OMIM:230200	Galactokinase deficiency			23
HP:0002012	HP:0001743	Abnormality of the spleen	1	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency			23
HP:0002012	HP:0001392	Abnormality of the liver	1	GALM CL E G H	130589	24063	ORPHA:570422	Galactose mutarotase deficiency
HP:0002012	HP:0001392	Abnormality of the liver	1	GALM CL E G H	130589	24063	OMIM:618881	GALACTOSEMIA IV; GALAC4
HP:0002012	HP:0001392	Abnormality of the liver	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0002012	HP:0001392	Abnormality of the liver	1	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia			351
HP:0002012	HP:0001392	Abnormality of the liver	1	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA			351
HP:0002012	HP:0001392	Abnormality of the liver	1	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease			6
HP:0002012	HP:0001732	Abnormality of the pancreas	1	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease			6
HP:0002012	HP:0001392	Abnormality of the liver	1	GANAB CL E G H	23193	4138	OMIM:600666	Polycystic kidney disease 3			6
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	GAPVD1 CL E G H	26130	23375	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0002012	HP:0001743	Abnormality of the spleen	1	GATA1 CL E G H	2623	4170	ORPHA:231393	Beta-thalassemia-X-linked thrombocytopenia syndrome			29
HP:0002012	HP:0001743	Abnormality of the spleen	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0002012	HP:0001743	Abnormality of the spleen	1	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked			29
HP:0002012	HP:0001392	Abnormality of the liver	1	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome			137
HP:0002012	HP:0001743	Abnormality of the spleen	1	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome			137
HP:0002012	HP:0001392	Abnormality of the liver	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0002012	HP:0001732	Abnormality of the pancreas	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0002012	HP:0001392	Abnormality of the liver	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0002012	HP:0001732	Abnormality of the pancreas	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0002012	HP:0001392	Abnormality of the liver	1	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0002012	HP:0001743	Abnormality of the spleen	1	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease	HP:0040282 - Frequent
HP:0002012	HP:0001392	Abnormality of the liver	1	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0002012	HP:0001743	Abnormality of the spleen	1	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0002012	HP:0001392	Abnormality of the liver	1	GBA1 CL E G H	2629	4177	ORPHA:77260	Gaucher disease type 2
HP:0002012	HP:0001743	Abnormality of the spleen	1	GBA1 CL E G H	2629	4177	ORPHA:77260	Gaucher disease type 2
HP:0002012	HP:0001392	Abnormality of the liver	1	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0002012	HP:0001743	Abnormality of the spleen	1	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0002012	HP:0001392	Abnormality of the liver	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0002012	HP:0001743	Abnormality of the spleen	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0002012	HP:0001392	Abnormality of the liver	1	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0002012	HP:0001743	Abnormality of the spleen	1	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0002012	HP:0001392	Abnormality of the liver	1	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II
HP:0002012	HP:0001743	Abnormality of the spleen	1	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II
HP:0002012	HP:0001392	Abnormality of the liver	1	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III
HP:0002012	HP:0001743	Abnormality of the spleen	1	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III
HP:0002012	HP:0001392	Abnormality of the liver	1	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC
HP:0002012	HP:0001743	Abnormality of the spleen	1	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC
HP:0002012	HP:0001392	Abnormality of the liver	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0002012	HP:0001392	Abnormality of the liver	1	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV			86
HP:0002012	HP:0001743	Abnormality of the spleen	1	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV			86
HP:0002012	HP:0001392	Abnormality of the liver	1	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I			115
HP:0002012	HP:0001392	Abnormality of the liver	1	GCGR CL E G H	2642	4192	ORPHA:438274	GCGR-related hyperglucagonemia			1
HP:0002012	HP:0001732	Abnormality of the pancreas	1	GCGR CL E G H	2642	4192	ORPHA:438274	GCGR-related hyperglucagonemia			1
HP:0002012	HP:0001732	Abnormality of the pancreas	1	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH			1
HP:0002012	HP:0001732	Abnormality of the pancreas	1	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0002012	HP:0001392	Abnormality of the liver	1	GCK CL E G H	2645	4195	ORPHA:552	MODY			237
HP:0002012	HP:0001732	Abnormality of the pancreas	1	GCK CL E G H	2645	4195	ORPHA:552	MODY			237
HP:0002012	HP:0001392	Abnormality of the liver	1	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0002012	HP:0001732	Abnormality of the pancreas	1	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0002012	HP:0001392	Abnormality of the liver	1	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency			2
HP:0002012	HP:0001743	Abnormality of the spleen	1	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency			2
HP:0002012	HP:0001743	Abnormality of the spleen	1	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0002012	HP:0011620	Abnormality of abdominal situs	1	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0002012	HP:0001392	Abnormality of the liver	1	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia			8
HP:0002012	HP:0001392	Abnormality of the liver	1	GDF2 CL E G H	2658	4217	OMIM:615506	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT5			8
HP:0002012	HP:0001743	Abnormality of the spleen	1	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities			1
HP:0002012	HP:0001392	Abnormality of the liver	1	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1			85
HP:0002012	HP:0001392	Abnormality of the liver	1	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA			50
HP:0002012	HP:0001392	Abnormality of the liver	1	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0002012	HP:0001743	Abnormality of the spleen	1	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0002012	HP:0001392	Abnormality of the liver	1	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0002012	HP:0001743	Abnormality of the spleen	1	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0002012	HP:0001392	Abnormality of the liver	1	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0002012	HP:0001743	Abnormality of the spleen	1	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0002012	HP:0001392	Abnormality of the liver	1	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II			120
HP:0002012	HP:0001392	Abnormality of the liver	1	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)			120
HP:0002012	HP:0001392	Abnormality of the liver	1	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0002012	HP:0001732	Abnormality of the pancreas	1	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0002012	HP:0001743	Abnormality of the spleen	1	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0002012	HP:0001392	Abnormality of the liver	1	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory			17
HP:0002012	HP:0001743	Abnormality of the spleen	1	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory			17
HP:0002012	HP:0001732	Abnormality of the pancreas	1	GNA11 CL E G H	2767	4379	OMIM:145981	Hypocalciuric hypercalcemia, familial, type II			16
HP:0002012	HP:0001392	Abnormality of the liver	1	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0002012	HP:0001392	Abnormality of the liver	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome			101
HP:0002012	HP:0001732	Abnormality of the pancreas	1	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome			101
HP:0002012	HP:0001392	Abnormality of the liver	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002012	HP:0001743	Abnormality of the spleen	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002012	HP:0001392	Abnormality of the liver	1	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0002012	HP:0001392	Abnormality of the liver	1	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0002012	HP:0001743	Abnormality of the spleen	1	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0002012	HP:0001743	Abnormality of the spleen	1	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0002012	HP:0001392	Abnormality of the liver	1	GNMT CL E G H	27232	4415	OMIM:606664	GLYCINE N-METHYLTRANSFERASE DEFICIENCY			3
HP:0002012	HP:0001392	Abnormality of the liver	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0002012	HP:0001743	Abnormality of the spleen	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0002012	HP:0001392	Abnormality of the liver	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0002012	HP:0001743	Abnormality of the spleen	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0002012	HP:0001392	Abnormality of the liver	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0002012	HP:0001743	Abnormality of the spleen	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0002012	HP:0001743	Abnormality of the spleen	1	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant			23
HP:0002012	HP:0001392	Abnormality of the liver	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0002012	HP:0001743	Abnormality of the spleen	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0002012	HP:0001392	Abnormality of the liver	1	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma			73
HP:0002012	HP:0001392	Abnormality of the liver	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0002012	HP:0001732	Abnormality of the pancreas	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0002012	HP:0001743	Abnormality of the spleen	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0002012	HP:0001392	Abnormality of the liver	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0002012	HP:0001732	Abnormality of the pancreas	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0002012	HP:0001743	Abnormality of the spleen	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0002012	HP:0001392	Abnormality of the liver	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0002012	HP:0001732	Abnormality of the pancreas	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002012	HP:0001732	Abnormality of the pancreas	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002012	HP:0001743	Abnormality of the spleen	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002012	HP:0001392	Abnormality of the liver	1	GPD1 CL E G H	2819	4455	OMIM:614480	Hypertriglyceridemia, transient infantile			3
HP:0002012	HP:0001743	Abnormality of the spleen	1	GPD1 CL E G H	2819	4455	OMIM:614480	Hypertriglyceridemia, transient infantile			3
HP:0002012	HP:0001392	Abnormality of the liver	1	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency			12
HP:0002012	HP:0001743	Abnormality of the spleen	1	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency			12
HP:0002012	HP:0001392	Abnormality of the liver	1	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID			12
HP:0002012	HP:0001732	Abnormality of the pancreas	1	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID			12
HP:0002012	HP:0001743	Abnormality of the spleen	1	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID			12
HP:0002012	HP:0001392	Abnormality of the liver	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0002012	HP:0001732	Abnormality of the pancreas	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0002012	HP:0001743	Abnormality of the spleen	1	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0002012	HP:0001743	Abnormality of the spleen	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0002012	HP:0001392	Abnormality of the liver	1	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0002012	HP:0001732	Abnormality of the pancreas	1	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0002012	HP:0001392	Abnormality of the liver	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0002012	HP:0001392	Abnormality of the liver	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0002012	HP:0001392	Abnormality of the liver	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0002012	HP:0001392	Abnormality of the liver	1	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I			124
HP:0002012	HP:0001392	Abnormality of the liver	1	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7			54
HP:0002012	HP:0001743	Abnormality of the spleen	1	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7			54
HP:0002012	HP:0001392	Abnormality of the liver	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0002012	HP:0001743	Abnormality of the spleen	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0002012	HP:0001392	Abnormality of the liver	1	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis			5
HP:0002012	HP:0001743	Abnormality of the spleen	1	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis			5
HP:0002012	HP:0001392	Abnormality of the liver	1	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma			4
HP:0002012	HP:0001392	Abnormality of the liver	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0002012	HP:0001732	Abnormality of the pancreas	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency			41
HP:0002012	HP:0001392	Abnormality of the liver	1	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency			41
HP:0002012	HP:0001392	Abnormality of the liver	1	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency			99
HP:0002012	HP:0001392	Abnormality of the liver	1	HADHA CL E G H	3030	4801	OMIM:609016	Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency			99
HP:0002012	HP:0001392	Abnormality of the liver	1	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0002012	HP:0001392	Abnormality of the liver	1	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0002012	HP:0001392	Abnormality of the liver	1	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0002012	HP:0001392	Abnormality of the liver	1	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0002012	HP:0001392	Abnormality of the liver	1	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2			15
HP:0002012	HP:0001732	Abnormality of the pancreas	1	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2			15
HP:0002012	HP:0001392	Abnormality of the liver	1	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B			15
HP:0002012	HP:0001743	Abnormality of the spleen	1	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B			15
HP:0002012	HP:0001392	Abnormality of the liver	1	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma
HP:0002012	HP:0001743	Abnormality of the spleen	1	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma
HP:0002012	HP:0001743	Abnormality of the spleen	1	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0002012	HP:0001392	Abnormality of the liver	1	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis			200
HP:0002012	HP:0001743	Abnormality of the spleen	1	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis			200
HP:0002012	HP:0001392	Abnormality of the liver	1	HBA1 CL E G H	3039	4823	OMIM:613978	Hemoglobin H disease			200
HP:0002012	HP:0001743	Abnormality of the spleen	1	HBA1 CL E G H	3039	4823	OMIM:613978	Hemoglobin H disease			200
HP:0002012	HP:0001392	Abnormality of the liver	1	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis			88
HP:0002012	HP:0001743	Abnormality of the spleen	1	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis			88
HP:0002012	HP:0001392	Abnormality of the liver	1	HBA2 CL E G H	3040	4824	OMIM:613978	Hemoglobin H disease			88
HP:0002012	HP:0001743	Abnormality of the spleen	1	HBA2 CL E G H	3040	4824	OMIM:613978	Hemoglobin H disease			88
HP:0002012	HP:0001392	Abnormality of the liver	1	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040283 - Occasional		580
HP:0002012	HP:0001743	Abnormality of the spleen	1	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia			580
HP:0002012	HP:0001392	Abnormality of the liver	1	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0002012	HP:0001743	Abnormality of the spleen	1	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0002012	HP:0001392	Abnormality of the liver	1	HBB CL E G H	3043	4827	OMIM:603902	BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE			580
HP:0002012	HP:0001743	Abnormality of the spleen	1	HBB CL E G H	3043	4827	OMIM:603902	BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE			580
HP:0002012	HP:0001392	Abnormality of the liver	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0002012	HP:0001743	Abnormality of the spleen	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0002012	HP:0001743	Abnormality of the spleen	1	HBB CL E G H	3043	4827	ORPHA:231242	Hemoglobin C-beta-thalassemia syndrome			580
HP:0002012	HP:0001743	Abnormality of the spleen	1	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease			580
HP:0002012	HP:0001743	Abnormality of the spleen	1	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease			580
HP:0002012	HP:0001392	Abnormality of the liver	1	HBB CL E G H	3043	4827	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome			580
HP:0002012	HP:0001743	Abnormality of the spleen	1	HBB CL E G H	3043	4827	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome			580
HP:0002012	HP:0001743	Abnormality of the spleen	1	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			580
HP:0002012	HP:0001392	Abnormality of the liver	1	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia			580
HP:0002012	HP:0001392	Abnormality of the liver	1	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia			580
HP:0002012	HP:0001743	Abnormality of the spleen	1	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040282 - Frequent		580
HP:0002012	HP:0001743	Abnormality of the spleen	1	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia			580
HP:0002012	HP:0001392	Abnormality of the liver	1	HBG1 CL E G H	3047	4831	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome			35
HP:0002012	HP:0001743	Abnormality of the spleen	1	HBG1 CL E G H	3047	4831	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome			35
HP:0002012	HP:0001743	Abnormality of the spleen	1	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			35
HP:0002012	HP:0001392	Abnormality of the liver	1	HBG2 CL E G H	3048	4832	OMIM:613977	Cyanosis, transient neonatal			50
HP:0002012	HP:0001392	Abnormality of the liver	1	HBG2 CL E G H	3048	4832	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome			50
HP:0002012	HP:0001743	Abnormality of the spleen	1	HBG2 CL E G H	3048	4832	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome			50
HP:0002012	HP:0001743	Abnormality of the spleen	1	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			50
HP:0002012	HP:0001392	Abnormality of the liver	1	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0002012	HP:0001392	Abnormality of the liver	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0002012	HP:0001743	Abnormality of the spleen	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0002012	HP:0001392	Abnormality of the liver	1	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0002012	HP:0001743	Abnormality of the spleen	1	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0002012	HP:0001392	Abnormality of the liver	1	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0002012	HP:0001732	Abnormality of the pancreas	1	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0002012	HP:0001392	Abnormality of the liver	1	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1			38
HP:0002012	HP:0001743	Abnormality of the spleen	1	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1			38
HP:0002012	HP:0001392	Abnormality of the liver	1	HFE CL E G H	3077	4886	OMIM:176100	Porphyria cutanea tarda			38
HP:0002012	HP:0001392	Abnormality of the liver	1	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0002012	HP:0001743	Abnormality of the spleen	1	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0002012	HP:0001392	Abnormality of the liver	1	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0002012	HP:0001743	Abnormality of the spleen	1	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0002012	HP:0001392	Abnormality of the liver	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0002012	HP:0001743	Abnormality of the spleen	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0002012	HP:0001392	Abnormality of the liver	1	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2
HP:0002012	HP:0001732	Abnormality of the pancreas	1	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2
HP:0002012	HP:0001392	Abnormality of the liver	1	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A
HP:0002012	HP:0001743	Abnormality of the spleen	1	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A
HP:0002012	HP:0001392	Abnormality of the liver	1	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency			11
HP:0002012	HP:0001743	Abnormality of the spleen	1	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency			11
HP:0002012	HP:0001732	Abnormality of the pancreas	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0002012	HP:0001743	Abnormality of the spleen	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0002012	HP:0001732	Abnormality of the pancreas	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome			4
HP:0002012	HP:0001732	Abnormality of the pancreas	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0002012	HP:0001732	Abnormality of the pancreas	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:545	Follicular lymphoma			2
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:545	Follicular lymphoma	HP:0040283 - Occasional		2
HP:0002012	HP:0001392	Abnormality of the liver	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0002012	HP:0001392	Abnormality of the liver	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0002012	HP:0001743	Abnormality of the spleen	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0002012	HP:0001392	Abnormality of the liver	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0002012	HP:0001743	Abnormality of the spleen	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0002012	HP:0001392	Abnormality of the liver	1	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria			81
HP:0002012	HP:0001392	Abnormality of the liver	1	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent			81
HP:0002012	HP:0001743	Abnormality of the spleen	1	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0002012	HP:0001392	Abnormality of the liver	1	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0002012	HP:0001732	Abnormality of the pancreas	1	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0002012	HP:0001392	Abnormality of the liver	1	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency			35
HP:0002012	HP:0001392	Abnormality of the liver	1	HMGCS2 CL E G H	3158	5008	OMIM:605911	3-Hydroxy-3-Methylglutaryl-Coa synthase-2 deficiency			42
HP:0002012	HP:0001392	Abnormality of the liver	1	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0002012	HP:0001732	Abnormality of the pancreas	1	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0002012	HP:0001392	Abnormality of the liver	1	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D			3
HP:0002012	HP:0001743	Abnormality of the spleen	1	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D			3
HP:0002012	HP:0001392	Abnormality of the liver	1	HNF1A CL E G H	6927	11621	OMIM:142330	Hepatic adenomas, familial			161
HP:0002012	HP:0001392	Abnormality of the liver	1	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency			161
HP:0002012	HP:0001392	Abnormality of the liver	1	HNF1A CL E G H	6927	11621	ORPHA:552	MODY			161
HP:0002012	HP:0001732	Abnormality of the pancreas	1	HNF1A CL E G H	6927	11621	ORPHA:552	MODY			161
HP:0002012	HP:0001732	Abnormality of the pancreas	1	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome			90
HP:0002012	HP:0001392	Abnormality of the liver	1	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease			90
HP:0002012	HP:0001732	Abnormality of the pancreas	1	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease			90
HP:0002012	HP:0001392	Abnormality of the liver	1	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome			90
HP:0002012	HP:0001732	Abnormality of the pancreas	1	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome			90
HP:0002012	HP:0001392	Abnormality of the liver	1	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young			138
HP:0002012	HP:0001392	Abnormality of the liver	1	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0002012	HP:0001732	Abnormality of the pancreas	1	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0002012	HP:0001392	Abnormality of the liver	1	HNF4A CL E G H	3172	5024	ORPHA:552	MODY			138
HP:0002012	HP:0001732	Abnormality of the pancreas	1	HNF4A CL E G H	3172	5024	ORPHA:552	MODY			138
HP:0002012	HP:0001392	Abnormality of the liver	1	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			31
HP:0002012	HP:0001392	Abnormality of the liver	1	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			5
HP:0002012	HP:0001392	Abnormality of the liver	1	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association			25
HP:0002012	HP:0001732	Abnormality of the pancreas	1	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040283 - Occasional		25
HP:0002012	HP:0001392	Abnormality of the liver	1	HPD CL E G H	3242	5147	OMIM:276710	Tyrosinemia, type III	.		23
HP:0002012	HP:0001392	Abnormality of the liver	1	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis			55
HP:0002012	HP:0001743	Abnormality of the spleen	1	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis			55
HP:0002012	HP:0001392	Abnormality of the liver	1	HSD17B10 CL E G H	3028	4800	ORPHA:391457	HSD10 disease, neonatal type	HP:0040283 - Occasional		19
HP:0002012	HP:0001392	Abnormality of the liver	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0002012	HP:0001743	Abnormality of the spleen	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0002012	HP:0001392	Abnormality of the liver	1	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1			26
HP:0002012	HP:0001743	Abnormality of the spleen	1	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1			26
HP:0002012	HP:0001392	Abnormality of the liver	1	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1			26
HP:0002012	HP:0001743	Abnormality of the spleen	1	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1			26
HP:0002012	HP:0001392	Abnormality of the liver	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0002012	HP:0001732	Abnormality of the pancreas	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0002012	HP:0001743	Abnormality of the spleen	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0002012	HP:0001392	Abnormality of the liver	1	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0002012	HP:0001743	Abnormality of the spleen	1	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0002012	HP:0001743	Abnormality of the spleen	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0002012	HP:0001392	Abnormality of the liver	1	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0002012	HP:0001392	Abnormality of the liver	1	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0002012	HP:0001392	Abnormality of the liver	1	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
HP:0002012	HP:0001392	Abnormality of the liver	1	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		32
HP:0002012	HP:0001743	Abnormality of the spleen	1	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency			32
HP:0002012	HP:0001392	Abnormality of the liver	1	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1			32
HP:0002012	HP:0001743	Abnormality of the spleen	1	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1			32
HP:0002012	HP:0001392	Abnormality of the liver	1	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2			32
HP:0002012	HP:0001743	Abnormality of the spleen	1	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2			32
HP:0002012	HP:0001392	Abnormality of the liver	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0002012	HP:0001743	Abnormality of the spleen	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0002012	HP:0001392	Abnormality of the liver	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0002012	HP:0001743	Abnormality of the spleen	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0002012	HP:0001392	Abnormality of the liver	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0002012	HP:0001743	Abnormality of the spleen	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0002012	HP:0001392	Abnormality of the liver	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0002012	HP:0001392	Abnormality of the liver	1	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0002012	HP:0001743	Abnormality of the spleen	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0002012	HP:0001743	Abnormality of the spleen	1	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0002012	HP:0001392	Abnormality of the liver	1	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0002012	HP:0001392	Abnormality of the liver	1	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome			115
HP:0002012	HP:0001743	Abnormality of the spleen	1	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0002012	HP:0001743	Abnormality of the spleen	1	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome			115
HP:0002012	HP:0001392	Abnormality of the liver	1	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome			115
HP:0002012	HP:0001743	Abnormality of the spleen	1	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome			115
HP:0002012	HP:0001392	Abnormality of the liver	1	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome			6
HP:0002012	HP:0001392	Abnormality of the liver	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0002012	HP:0001743	Abnormality of the spleen	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0002012	HP:0001392	Abnormality of the liver	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0002012	HP:0001743	Abnormality of the spleen	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0002012	HP:0001392	Abnormality of the liver	1	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69			23
HP:0002012	HP:0001743	Abnormality of the spleen	1	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69			23
HP:0002012	HP:0001392	Abnormality of the liver	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0002012	HP:0001732	Abnormality of the pancreas	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0002012	HP:0001743	Abnormality of the spleen	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0002012	HP:0001392	Abnormality of the liver	1	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR			60
HP:0002012	HP:0001743	Abnormality of the spleen	1	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR			60
HP:0002012	HP:0001392	Abnormality of the liver	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0002012	HP:0001392	Abnormality of the liver	1	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease			148
HP:0002012	HP:0001732	Abnormality of the pancreas	1	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease			148
HP:0002012	HP:0001392	Abnormality of the liver	1	IFT140 CL E G H	9742	29077	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		148
HP:0002012	HP:0001392	Abnormality of the liver	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0002012	HP:0001732	Abnormality of the pancreas	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0002012	HP:0001743	Abnormality of the spleen	1	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0002012	HP:0001392	Abnormality of the liver	1	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome			48
HP:0002012	HP:0001732	Abnormality of the pancreas	1	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0002012	HP:0001392	Abnormality of the liver	1	IFT172 CL E G H	26160	30391	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		48
HP:0002012	HP:0001392	Abnormality of the liver	1	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly			48
HP:0002012	HP:0001743	Abnormality of the spleen	1	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly			48
HP:0002012	HP:0001392	Abnormality of the liver	1	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome			1
HP:0002012	HP:0001392	Abnormality of the liver	1	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3			11
HP:0002012	HP:0001392	Abnormality of the liver	1	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome			3
HP:0002012	HP:0001392	Abnormality of the liver	1	IFT80 CL E G H	57560	29262	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		65
HP:0002012	HP:0001392	Abnormality of the liver	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			65
HP:0002012	HP:0001392	Abnormality of the liver	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0002012	HP:0001732	Abnormality of the pancreas	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0002012	HP:0001392	Abnormality of the liver	1	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome			9
HP:0002012	HP:0001392	Abnormality of the liver	1	IGF2R CL E G H	3482	5467	OMIM:114550	Hepatocellular carcinoma			4
HP:0002012	HP:0001743	Abnormality of the spleen	1	IGH CL E G H	3492	5477	ORPHA:545	Follicular lymphoma			7
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	IGH CL E G H	3492	5477	ORPHA:545	Follicular lymphoma	HP:0040283 - Occasional		7
HP:0002012	HP:0001743	Abnormality of the spleen	1	IGH CL E G H	3492	5477	ORPHA:52416	Mantle cell lymphoma			7
HP:0002012	HP:0001392	Abnormality of the liver	1	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0002012	HP:0001392	Abnormality of the liver	1	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia			7
HP:0002012	HP:0001392	Abnormality of the liver	1	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0002012	HP:0001392	Abnormality of the liver	1	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0002012	HP:0001392	Abnormality of the liver	1	IKBKG CL E G H	8517	5961	OMIM:301081				52
HP:0002012	HP:0001743	Abnormality of the spleen	1	IKBKG CL E G H	8517	5961	OMIM:301081				52
HP:0002012	HP:0001732	Abnormality of the pancreas	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome			8
HP:0002012	HP:0001743	Abnormality of the spleen	1	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0002012	HP:0001732	Abnormality of the pancreas	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0002012	HP:0001743	Abnormality of the spleen	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0002012	HP:0001732	Abnormality of the pancreas	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0002012	HP:0001743	Abnormality of the spleen	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0002012	HP:0001392	Abnormality of the liver	1	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0001732	Abnormality of the pancreas	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0002012	HP:0001743	Abnormality of the spleen	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0002012	HP:0001392	Abnormality of the liver	1	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis			46
HP:0002012	HP:0001392	Abnormality of the liver	1	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis			14
HP:0002012	HP:0001392	Abnormality of the liver	1	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis			196
HP:0002012	HP:0001392	Abnormality of the liver	1	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis			4
HP:0002012	HP:0001392	Abnormality of the liver	1	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0002012	HP:0001392	Abnormality of the liver	1	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0002012	HP:0001743	Abnormality of the spleen	1	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0002012	HP:0001392	Abnormality of the liver	1	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56			7
HP:0002012	HP:0001732	Abnormality of the pancreas	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0002012	HP:0001392	Abnormality of the liver	1	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0002012	HP:0001743	Abnormality of the spleen	1	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0002012	HP:0001392	Abnormality of the liver	1	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			65
HP:0002012	HP:0001743	Abnormality of the spleen	1	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			65
HP:0002012	HP:0001392	Abnormality of the liver	1	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0002012	HP:0001743	Abnormality of the spleen	1	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0002012	HP:0001392	Abnormality of the liver	1	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0002012	HP:0001743	Abnormality of the spleen	1	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0002012	HP:0001392	Abnormality of the liver	1	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome			48
HP:0002012	HP:0001743	Abnormality of the spleen	1	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome			48
HP:0002012	HP:0001392	Abnormality of the liver	1	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked			48
HP:0002012	HP:0001392	Abnormality of the liver	1	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency			48
HP:0002012	HP:0001392	Abnormality of the liver	1	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14			51
HP:0002012	HP:0001392	Abnormality of the liver	1	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0002012	HP:0001743	Abnormality of the spleen	1	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0002012	HP:0001392	Abnormality of the liver	1	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0002012	HP:0001743	Abnormality of the spleen	1	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0002012	HP:0001392	Abnormality of the liver	1	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome			94
HP:0002012	HP:0001743	Abnormality of the spleen	1	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome			94
HP:0002012	HP:0001392	Abnormality of the liver	1	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:0002012	HP:0001743	Abnormality of the spleen	1	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:0002012	HP:0001392	Abnormality of the liver	1	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency			94
HP:0002012	HP:0001743	Abnormality of the spleen	1	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency			94
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	INF2 CL E G H	64423	23791	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			135
HP:0002012	HP:0001392	Abnormality of the liver	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0002012	HP:0001392	Abnormality of the liver	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0002012	HP:0001743	Abnormality of the spleen	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0002012	HP:0001392	Abnormality of the liver	1	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia			18
HP:0002012	HP:0001743	Abnormality of the spleen	1	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia			18
HP:0002012	HP:0001732	Abnormality of the pancreas	1	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0002012	HP:0001392	Abnormality of the liver	1	INS CL E G H	3630	6081	ORPHA:552	MODY			62
HP:0002012	HP:0001732	Abnormality of the pancreas	1	INS CL E G H	3630	6081	ORPHA:552	MODY			62
HP:0002012	HP:0001392	Abnormality of the liver	1	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0002012	HP:0001732	Abnormality of the pancreas	1	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0002012	HP:0001392	Abnormality of the liver	1	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0002012	HP:0001392	Abnormality of the liver	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0002012	HP:0001392	Abnormality of the liver	1	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome			106
HP:0002012	HP:0001392	Abnormality of the liver	1	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome			61
HP:0002012	HP:0001392	Abnormality of the liver	1	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67			58
HP:0002012	HP:0001392	Abnormality of the liver	1	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		4
HP:0002012	HP:0001743	Abnormality of the spleen	1	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency			4
HP:0002012	HP:0001392	Abnormality of the liver	1	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease			1
HP:0002012	HP:0001392	Abnormality of the liver	1	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis			4
HP:0002012	HP:0001392	Abnormality of the liver	1	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B			5
HP:0002012	HP:0001743	Abnormality of the spleen	1	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B			5
HP:0002012	HP:0001392	Abnormality of the liver	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0002012	HP:0001743	Abnormality of the spleen	1	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0002012	HP:0001392	Abnormality of the liver	1	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0002012	HP:0001743	Abnormality of the spleen	1	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0002012	HP:0001392	Abnormality of the liver	1	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1			51
HP:0002012	HP:0001743	Abnormality of the spleen	1	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1			51
HP:0002012	HP:0001392	Abnormality of the liver	1	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis			130
HP:0002012	HP:0001392	Abnormality of the liver	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0002012	HP:0001732	Abnormality of the pancreas	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0002012	HP:0001392	Abnormality of the liver	1	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE			12
HP:0002012	HP:0001743	Abnormality of the spleen	1	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE			12
HP:0002012	HP:0001392	Abnormality of the liver	1	JAK2 CL E G H	3717	6192	OMIM:600880	Budd-Chiari syndrome			57
HP:0002012	HP:0001392	Abnormality of the liver	1	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome			57
HP:0002012	HP:0001743	Abnormality of the spleen	1	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome			57
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome			57
HP:0002012	HP:0001743	Abnormality of the spleen	1	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1			57
HP:0002012	HP:0001743	Abnormality of the spleen	1	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia			57
HP:0002012	HP:0001743	Abnormality of the spleen	1	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis			57
HP:0002012	HP:0001743	Abnormality of the spleen	1	JAK2 CL E G H	3717	6192	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included			57
HP:0002012	HP:0001392	Abnormality of the liver	1	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera			57
HP:0002012	HP:0001743	Abnormality of the spleen	1	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera			57
HP:0002012	HP:0001743	Abnormality of the spleen	1	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera			57
HP:0002012	HP:0001392	Abnormality of the liver	1	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis			57
HP:0002012	HP:0001743	Abnormality of the spleen	1	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis			57
HP:0002012	HP:0001392	Abnormality of the liver	1	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency			140
HP:0002012	HP:0001743	Abnormality of the spleen	1	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency			140
HP:0002012	HP:0001392	Abnormality of the liver	1	JAM2 CL E G H	58494	14686	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040282 - Frequent
HP:0002012	HP:0001392	Abnormality of the liver	1	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts			4
HP:0002012	HP:0001392	Abnormality of the liver	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0002012	HP:0001743	Abnormality of the spleen	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0002012	HP:0001743	Abnormality of the spleen	1	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			10
HP:0002012	HP:0001392	Abnormality of the liver	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0002012	HP:0001732	Abnormality of the pancreas	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0002012	HP:0001392	Abnormality of the liver	1	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0002012	HP:0001743	Abnormality of the spleen	1	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0002012	HP:0001392	Abnormality of the liver	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0002012	HP:0001743	Abnormality of the spleen	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0002012	HP:0001392	Abnormality of the liver	1	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency			127
HP:0002012	HP:0001732	Abnormality of the pancreas	1	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency			127
HP:0002012	HP:0001732	Abnormality of the pancreas	1	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0002012	HP:0001732	Abnormality of the pancreas	1	KCNJ11 CL E G H	3767	6257	OMIM:601820	Hyperinsulinemic hypoglycemia, familial, 2			127
HP:0002012	HP:0001732	Abnormality of the pancreas	1	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0002012	HP:0001392	Abnormality of the liver	1	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY			127
HP:0002012	HP:0001732	Abnormality of the pancreas	1	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY			127
HP:0002012	HP:0001392	Abnormality of the liver	1	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0002012	HP:0001743	Abnormality of the spleen	1	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0002012	HP:0001392	Abnormality of the liver	1	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0002012	HP:0001732	Abnormality of the pancreas	1	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0002012	HP:0001392	Abnormality of the liver	1	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis			3
HP:0002012	HP:0001743	Abnormality of the spleen	1	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis			3
HP:0002012	HP:0001392	Abnormality of the liver	1	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2			3
HP:0002012	HP:0001743	Abnormality of the spleen	1	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2			3
HP:0002012	HP:0001392	Abnormality of the liver	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0002012	HP:0001732	Abnormality of the pancreas	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0002012	HP:0001392	Abnormality of the liver	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0002012	HP:0001732	Abnormality of the pancreas	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0002012	HP:0001392	Abnormality of the liver	1	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0002012	HP:0001392	Abnormality of the liver	1	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8			1
HP:0002012	HP:0001392	Abnormality of the liver	1	KIF20A CL E G H	10112	9787	OMIM:619433	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0002012	HP:0001392	Abnormality of the liver	1	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy
HP:0002012	HP:0001392	Abnormality of the liver	1	KIF23 CL E G H	9493	6392	OMIM:105600	Anemia, dyserythropoietic congenital, type III			1
HP:0002012	HP:0001392	Abnormality of the liver	1	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0002012	HP:0001743	Abnormality of the spleen	1	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0002012	HP:0001392	Abnormality of the liver	1	KIT CL E G H	3815	6342	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040283 - Occasional		327
HP:0002012	HP:0001392	Abnormality of the liver	1	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			327
HP:0002012	HP:0001743	Abnormality of the spleen	1	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			327
HP:0002012	HP:0001392	Abnormality of the liver	1	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0002012	HP:0001743	Abnormality of the spleen	1	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0002012	HP:0001392	Abnormality of the liver	1	KLF1 CL E G H	10661	6345	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome			42
HP:0002012	HP:0001743	Abnormality of the spleen	1	KLF1 CL E G H	10661	6345	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome			42
HP:0002012	HP:0001743	Abnormality of the spleen	1	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			42
HP:0002012	HP:0001392	Abnormality of the liver	1	KLF11 CL E G H	8462	11811	ORPHA:552	MODY			78
HP:0002012	HP:0001732	Abnormality of the pancreas	1	KLF11 CL E G H	8462	11811	ORPHA:552	MODY			78
HP:0002012	HP:0001732	Abnormality of the pancreas	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0002012	HP:0001743	Abnormality of the spleen	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0002012	HP:0001392	Abnormality of the liver	1	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0002012	HP:0001392	Abnormality of the liver	1	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome			1
HP:0002012	HP:0001392	Abnormality of the liver	1	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome			13
HP:0002012	HP:0001743	Abnormality of the spleen	1	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome			13
HP:0002012	HP:0001392	Abnormality of the liver	1	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41			13
HP:0002012	HP:0001743	Abnormality of the spleen	1	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41			13
HP:0002012	HP:0001392	Abnormality of the liver	1	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma			196
HP:0002012	HP:0001732	Abnormality of the pancreas	1	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma			196
HP:0002012	HP:0001743	Abnormality of the spleen	1	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma			196
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma			196
HP:0002012	HP:0001392	Abnormality of the liver	1	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome			196
HP:0002012	HP:0001732	Abnormality of the pancreas	1	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome			196
HP:0002012	HP:0001392	Abnormality of the liver	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0002012	HP:0001743	Abnormality of the spleen	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		196
HP:0002012	HP:0001732	Abnormality of the pancreas	1	KRAS CL E G H	3845	6407	OMIM:260350	Pancreatic cancer			196
HP:0002012	HP:0001392	Abnormality of the liver	1	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic			196
HP:0002012	HP:0001743	Abnormality of the spleen	1	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic			196
HP:0002012	HP:0001392	Abnormality of the liver	1	KRIT1 CL E G H	889	1573	OMIM:116860	Cerebral cavernous malformations 1			92
HP:0002012	HP:0001392	Abnormality of the liver	1	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial			19
HP:0002012	HP:0001392	Abnormality of the liver	1	KYNU CL E G H	8942	6469	OMIM:236800	HYDROXYKYNURENINURIA			5
HP:0002012	HP:0001392	Abnormality of the liver	1	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0002012	HP:0001392	Abnormality of the liver	1	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0002012	HP:0001392	Abnormality of the liver	1	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1
HP:0002012	HP:0001743	Abnormality of the spleen	1	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52			2
HP:0002012	HP:0001392	Abnormality of the liver	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0002012	HP:0001732	Abnormality of the pancreas	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0002012	HP:0001743	Abnormality of the spleen	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0002012	HP:0001392	Abnormality of the liver	1	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome			70
HP:0002012	HP:0001392	Abnormality of the liver	1	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome			70
HP:0002012	HP:0001743	Abnormality of the spleen	1	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome			70
HP:0002012	HP:0001392	Abnormality of the liver	1	LCAT CL E G H	3931	6522	ORPHA:79292	Fish-eye disease			26
HP:0002012	HP:0001743	Abnormality of the spleen	1	LCAT CL E G H	3931	6522	ORPHA:79292	Fish-eye disease			26
HP:0002012	HP:0001392	Abnormality of the liver	1	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia			2157
HP:0002012	HP:0001392	Abnormality of the liver	1	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia			73
HP:0002012	HP:0001743	Abnormality of the spleen	1	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional		68
HP:0002012	HP:0001392	Abnormality of the liver	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0002012	HP:0001392	Abnormality of the liver	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0002012	HP:0001743	Abnormality of the spleen	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0002012	HP:0011620	Abnormality of abdominal situs	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0002012	HP:0001732	Abnormality of the pancreas	1	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0002012	HP:0001392	Abnormality of the liver	1	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0002012	HP:0001392	Abnormality of the liver	1	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0002012	HP:0001392	Abnormality of the liver	1	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome			88
HP:0002012	HP:0001392	Abnormality of the liver	1	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome			88
HP:0002012	HP:0001743	Abnormality of the spleen	1	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome			88
HP:0002012	HP:0001392	Abnormality of the liver	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	LIPA CL E G H	3988	6617	ORPHA:75234	Cholesteryl ester storage disease			73
HP:0002012	HP:0001743	Abnormality of the spleen	1	LIPA CL E G H	3988	6617	ORPHA:75234	Cholesteryl ester storage disease			73
HP:0002012	HP:0001392	Abnormality of the liver	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0002012	HP:0001743	Abnormality of the spleen	1	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0002012	HP:0001392	Abnormality of the liver	1	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease			73
HP:0002012	HP:0001743	Abnormality of the spleen	1	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease			73
HP:0002012	HP:0001392	Abnormality of the liver	1	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy			7
HP:0002012	HP:0001392	Abnormality of the liver	1	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6			7
HP:0002012	HP:0001392	Abnormality of the liver	1	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF			46
HP:0002012	HP:0001392	Abnormality of the liver	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0002012	HP:0001732	Abnormality of the pancreas	1	LMF1 CL E G H	64788	14154	OMIM:246650	LIPASE DEFICIENCY, COMBINED			3
HP:0002012	HP:0001392	Abnormality of the liver	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0002012	HP:0001392	Abnormality of the liver	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0002012	HP:0001732	Abnormality of the pancreas	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0002012	HP:0001743	Abnormality of the spleen	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0002012	HP:0001392	Abnormality of the liver	1	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type			645
HP:0002012	HP:0001732	Abnormality of the pancreas	1	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type			645
HP:0002012	HP:0001743	Abnormality of the spleen	1	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type			645
HP:0002012	HP:0001392	Abnormality of the liver	1	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type			645
HP:0002012	HP:0001732	Abnormality of the pancreas	1	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type			645
HP:0002012	HP:0001392	Abnormality of the liver	1	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2			645
HP:0002012	HP:0001732	Abnormality of the pancreas	1	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2			645
HP:0002012	HP:0001392	Abnormality of the liver	1	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome			645
HP:0002012	HP:0001392	Abnormality of the liver	1	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0002012	HP:0001392	Abnormality of the liver	1	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy			11
HP:0002012	HP:0001392	Abnormality of the liver	1	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0002012	HP:0001392	Abnormality of the liver	1	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome			186
HP:0002012	HP:0001743	Abnormality of the spleen	1	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome			186
HP:0002012	HP:0001392	Abnormality of the liver	1	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0002012	HP:0001743	Abnormality of the spleen	1	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0002012	HP:0001392	Abnormality of the liver	1	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia			106
HP:0002012	HP:0001732	Abnormality of the pancreas	1	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia			106
HP:0002012	HP:0001743	Abnormality of the spleen	1	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia			106
HP:0002012	HP:0001743	Abnormality of the spleen	1	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0002012	HP:0001392	Abnormality of the liver	1	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease			125
HP:0002012	HP:0001732	Abnormality of the pancreas	1	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional		125
HP:0002012	HP:0001392	Abnormality of the liver	1	LRP5 CL E G H	4041	6697	OMIM:617875	Polycystic liver disease 4 with or without kidney cysts			125
HP:0002012	HP:0001392	Abnormality of the liver	1	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0002012	HP:0001392	Abnormality of the liver	1	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0002012	HP:0001743	Abnormality of the spleen	1	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0001392	Abnormality of the liver	1	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0002012	HP:0001392	Abnormality of the liver	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3			12
HP:0002012	HP:0001392	Abnormality of the liver	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001732	Abnormality of the pancreas	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001392	Abnormality of the liver	1	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0002012	HP:0001392	Abnormality of the liver	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0002012	HP:0001743	Abnormality of the spleen	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0002012	HP:0001392	Abnormality of the liver	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0002012	HP:0001743	Abnormality of the spleen	1	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0002012	HP:0001392	Abnormality of the liver	1	LYZ CL E G H	4069	6740	OMIM:105200	Amyloidosis, familial visceral			32
HP:0002012	HP:0001743	Abnormality of the spleen	1	LYZ CL E G H	4069	6740	OMIM:105200	Amyloidosis, familial visceral			32
HP:0002012	HP:0001392	Abnormality of the liver	1	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome			4
HP:0002012	HP:0001392	Abnormality of the liver	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0002012	HP:0001743	Abnormality of the spleen	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		43
HP:0002012	HP:0001392	Abnormality of the liver	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1
HP:0002012	HP:0001392	Abnormality of the liver	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0002012	HP:0001732	Abnormality of the pancreas	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0002012	HP:0001392	Abnormality of the liver	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0002012	HP:0001732	Abnormality of the pancreas	1	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	MAGI2 CL E G H	9863	18957	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			59
HP:0002012	HP:0001392	Abnormality of the liver	1	MAGT1 CL E G H	84061	28880	OMIM:301031	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC			17
HP:0002012	HP:0001743	Abnormality of the spleen	1	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN			17
HP:0002012	HP:0001392	Abnormality of the liver	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0002012	HP:0001743	Abnormality of the spleen	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0002012	HP:0001392	Abnormality of the liver	1	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0002012	HP:0001743	Abnormality of the spleen	1	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0002012	HP:0001392	Abnormality of the liver	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0002012	HP:0001743	Abnormality of the spleen	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0002012	HP:0001392	Abnormality of the liver	1	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0002012	HP:0001392	Abnormality of the liver	1	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0002012	HP:0001732	Abnormality of the pancreas	1	MC1R CL E G H	4157	6929	ORPHA:618	Familial melanoma			124
HP:0002012	HP:0001392	Abnormality of the liver	1	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency			81
HP:0002012	HP:0001743	Abnormality of the spleen	1	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0002012	HP:0001743	Abnormality of the spleen	1	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0002012	HP:0001392	Abnormality of the liver	1	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54			69
HP:0002012	HP:0001743	Abnormality of the spleen	1	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54			69
HP:0002012	HP:0001732	Abnormality of the pancreas	1	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome			1
HP:0002012	HP:0001392	Abnormality of the liver	1	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome			950
HP:0002012	HP:0001392	Abnormality of the liver	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0002012	HP:0001743	Abnormality of the spleen	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0002012	HP:0001392	Abnormality of the liver	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0002012	HP:0001732	Abnormality of the pancreas	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0002012	HP:0001743	Abnormality of the spleen	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0002012	HP:0001732	Abnormality of the pancreas	1	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever			281
HP:0002012	HP:0001743	Abnormality of the spleen	1	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever			281
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever			281
HP:0002012	HP:0001392	Abnormality of the liver	1	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0002012	HP:0001743	Abnormality of the spleen	1	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	MEFV CL E G H	4210	6998	OMIM:134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT			281
HP:0002012	HP:0001392	Abnormality of the liver	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome			13
HP:0002012	HP:0001732	Abnormality of the pancreas	1	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma			462
HP:0002012	HP:0001732	Abnormality of the pancreas	1	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1			462
HP:0002012	HP:0001732	Abnormality of the pancreas	1	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0002012	HP:0001392	Abnormality of the liver	1	MET CL E G H	4233	7029	OMIM:114550	Hepatocellular carcinoma			375
HP:0002012	HP:0001392	Abnormality of the liver	1	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma			375
HP:0002012	HP:0001392	Abnormality of the liver	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0002012	HP:0001392	Abnormality of the liver	1	MFN2 CL E G H	9927	16877	ORPHA:2398	Multiple symmetric lipomatosis			203
HP:0002012	HP:0001732	Abnormality of the pancreas	1	MGMT CL E G H	4255	7059	ORPHA:618	Familial melanoma			3
HP:0002012	HP:0001392	Abnormality of the liver	1	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0002012	HP:0001392	Abnormality of the liver	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0002012	HP:0001743	Abnormality of the spleen	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0002012	HP:0001392	Abnormality of the liver	1	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0002012	HP:0001732	Abnormality of the pancreas	1	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0002012	HP:0001392	Abnormality of the liver	1	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0002012	HP:0001732	Abnormality of the pancreas	1	MITF CL E G H	4286	7105	ORPHA:618	Familial melanoma			91
HP:0002012	HP:0001392	Abnormality of the liver	1	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome			69
HP:0002012	HP:0001392	Abnormality of the liver	1	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome			127
HP:0002012	HP:0001392	Abnormality of the liver	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome			127
HP:0002012	HP:0001732	Abnormality of the pancreas	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome			127
HP:0002012	HP:0001743	Abnormality of the spleen	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome			127
HP:0002012	HP:0001392	Abnormality of the liver	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0002012	HP:0001743	Abnormality of the spleen	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0002012	HP:0001392	Abnormality of the liver	1	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome			1819
HP:0002012	HP:0001732	Abnormality of the pancreas	1	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome			1819
HP:0002012	HP:0001392	Abnormality of the liver	1	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome			1819
HP:0002012	HP:0001392	Abnormality of the liver	1	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome			131
HP:0002012	HP:0001732	Abnormality of the pancreas	1	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome			131
HP:0002012	HP:0001392	Abnormality of the liver	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0002012	HP:0001392	Abnormality of the liver	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0002012	HP:0001392	Abnormality of the liver	1	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type			113
HP:0002012	HP:0001392	Abnormality of the liver	1	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type			127
HP:0002012	HP:0001392	Abnormality of the liver	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0002012	HP:0001392	Abnormality of the liver	1	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0001743	Abnormality of the spleen	1	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0002012	HP:0001392	Abnormality of the liver	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001732	Abnormality of the pancreas	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001392	Abnormality of the liver	1	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0002012	HP:0001732	Abnormality of the pancreas	1	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0002012	HP:0001392	Abnormality of the liver	1	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0002012	HP:0001732	Abnormality of the pancreas	1	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0002012	HP:0001743	Abnormality of the spleen	1	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0002012	HP:0001392	Abnormality of the liver	1	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0002012	HP:0001732	Abnormality of the pancreas	1	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0002012	HP:0001743	Abnormality of the spleen	1	MNS1 CL E G H	55329	29636	OMIM:618948	HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0002012	HP:0001392	Abnormality of the liver	1	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB			37
HP:0002012	HP:0001392	Abnormality of the liver	1	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0002012	HP:0001743	Abnormality of the spleen	1	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0002012	HP:0001392	Abnormality of the liver	1	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency			6
HP:0002012	HP:0001392	Abnormality of the liver	1	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib			51
HP:0002012	HP:0001392	Abnormality of the liver	1	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG			51
HP:0002012	HP:0001743	Abnormality of the spleen	1	MPIG6B CL E G H	80739	13937	OMIM:617441	Thrombocytopenia, anemia, and myelofibrosis			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia			97
HP:0002012	HP:0001743	Abnormality of the spleen	1	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis			97
HP:0002012	HP:0001743	Abnormality of the spleen	1	MPL CL E G H	4352	7217	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included			97
HP:0002012	HP:0001392	Abnormality of the liver	1	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera			97
HP:0002012	HP:0001743	Abnormality of the spleen	1	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera			97
HP:0002012	HP:0001392	Abnormality of the liver	1	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis			97
HP:0002012	HP:0001743	Abnormality of the spleen	1	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis			97
HP:0002012	HP:0001392	Abnormality of the liver	1	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE			56
HP:0002012	HP:0001392	Abnormality of the liver	1	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0002012	HP:0001392	Abnormality of the liver	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0002012	HP:0001732	Abnormality of the pancreas	1	MRE11 CL E G H	4361	7230	ORPHA:145	Hereditary breast and ovarian cancer syndrome			532
HP:0002012	HP:0001392	Abnormality of the liver	1	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0002012	HP:0001392	Abnormality of the liver	1	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16			13
HP:0002012	HP:0001392	Abnormality of the liver	1	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0002012	HP:0001392	Abnormality of the liver	1	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34			12
HP:0002012	HP:0001392	Abnormality of the liver	1	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		1
HP:0002012	HP:0001743	Abnormality of the spleen	1	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency			1
HP:0002012	HP:0001392	Abnormality of the liver	1	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome			2162
HP:0002012	HP:0001732	Abnormality of the pancreas	1	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome			2162
HP:0002012	HP:0001392	Abnormality of the liver	1	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome			2162
HP:0002012	HP:0001732	Abnormality of the pancreas	1	MSH6 CL E G H	2956	7329	OMIM:614350	Colorectal cancer, hereditary nonpolyposis, type 5			2232
HP:0002012	HP:0001392	Abnormality of the liver	1	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome			2232
HP:0002012	HP:0001732	Abnormality of the pancreas	1	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome			2232
HP:0002012	HP:0001392	Abnormality of the liver	1	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome			2232
HP:0002012	HP:0001392	Abnormality of the liver	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0002012	HP:0001732	Abnormality of the pancreas	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0002012	HP:0001392	Abnormality of the liver	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040283 - Occasional		88
HP:0002012	HP:0001392	Abnormality of the liver	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0002012	HP:0001392	Abnormality of the liver	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0002012	HP:0001392	Abnormality of the liver	1	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic			133
HP:0002012	HP:0001392	Abnormality of the liver	1	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0002012	HP:0001743	Abnormality of the spleen	1	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0002012	HP:0001392	Abnormality of the liver	1	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever			150
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever			150
HP:0002012	HP:0001392	Abnormality of the liver	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0002012	HP:0001743	Abnormality of the spleen	1	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria			150
HP:0002012	HP:0001743	Abnormality of the spleen	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0002012	HP:0001392	Abnormality of the liver	1	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4			1143
HP:0002012	HP:0001392	Abnormality of the liver	1	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma	HP:0040283 - Occasional		11
HP:0002012	HP:0001732	Abnormality of the pancreas	1	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma	HP:0040283 - Occasional		11
HP:0002012	HP:0001743	Abnormality of the spleen	1	MYC CL E G H	4609	7553	ORPHA:543	Burkitt lymphoma	HP:0040283 - Occasional		11
HP:0002012	HP:0001732	Abnormality of the pancreas	1	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0002012	HP:0001743	Abnormality of the spleen	1	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0002012	HP:0001392	Abnormality of the liver	1	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia			9
HP:0002012	HP:0001743	Abnormality of the spleen	1	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia			9
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2			418
HP:0002012	HP:0001392	Abnormality of the liver	1	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	MYO1E CL E G H	4643	7599	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			3
HP:0002012	HP:0001392	Abnormality of the liver	1	MYO5B CL E G H	4645	7603	OMIM:619868				192
HP:0002012	HP:0001743	Abnormality of the spleen	1	MYO5B CL E G H	4645	7603	OMIM:619868				192
HP:0002012	HP:0001392	Abnormality of the liver	1	MYORG CL E G H	57462	19918	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040282 - Frequent
HP:0002012	HP:0001392	Abnormality of the liver	1	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy			217
HP:0002012	HP:0001392	Abnormality of the liver	1	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0002012	HP:0001743	Abnormality of the spleen	1	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0002012	HP:0001392	Abnormality of the liver	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0002012	HP:0001392	Abnormality of the liver	1	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare
HP:0002012	HP:0001732	Abnormality of the pancreas	1	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency			14
HP:0002012	HP:0001392	Abnormality of the liver	1	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1			47
HP:0002012	HP:0001392	Abnormality of the liver	1	NAGA CL E G H	4668	7631	ORPHA:79281	Alpha-N-acetylgalactosaminidase deficiency type 3			47
HP:0002012	HP:0001392	Abnormality of the liver	1	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0002012	HP:0001743	Abnormality of the spleen	1	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0002012	HP:0001392	Abnormality of the liver	1	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency			36
HP:0002012	HP:0001392	Abnormality of the liver	1	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2			25
HP:0002012	HP:0001743	Abnormality of the spleen	1	NBEAL2 CL E G H	23218	31928	OMIM:139090	Gray platelet syndrome			127
HP:0002012	HP:0001743	Abnormality of the spleen	1	NBEAL2 CL E G H	23218	31928	ORPHA:721	Gray platelet syndrome			127
HP:0002012	HP:0001732	Abnormality of the pancreas	1	NBN CL E G H	4683	7652	ORPHA:145	Hereditary breast and ovarian cancer syndrome			706
HP:0002012	HP:0001392	Abnormality of the liver	1	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease			13
HP:0002012	HP:0001743	Abnormality of the spleen	1	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease			13
HP:0002012	HP:0001392	Abnormality of the liver	1	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I			13
HP:0002012	HP:0001743	Abnormality of the spleen	1	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I			13
HP:0002012	HP:0001392	Abnormality of the liver	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0002012	HP:0001392	Abnormality of the liver	1	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease			67
HP:0002012	HP:0001743	Abnormality of the spleen	1	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease			67
HP:0002012	HP:0001392	Abnormality of the liver	1	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II			67
HP:0002012	HP:0001743	Abnormality of the spleen	1	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II			67
HP:0002012	HP:0001392	Abnormality of the liver	1	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease			37
HP:0002012	HP:0001743	Abnormality of the spleen	1	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease			37
HP:0002012	HP:0001392	Abnormality of the liver	1	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0002012	HP:0001743	Abnormality of the spleen	1	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0002012	HP:0001392	Abnormality of the liver	1	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0002012	HP:0001732	Abnormality of the pancreas	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0002012	HP:0001392	Abnormality of the liver	1	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0002012	HP:0001392	Abnormality of the liver	1	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0002012	HP:0001392	Abnormality of the liver	1	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0001732	Abnormality of the pancreas	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0002012	HP:0001392	Abnormality of the liver	1	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0001732	Abnormality of the pancreas	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0002012	HP:0001392	Abnormality of the liver	1	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0001732	Abnormality of the pancreas	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0002012	HP:0001392	Abnormality of the liver	1	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			96
HP:0002012	HP:0001392	Abnormality of the liver	1	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0002012	HP:0001392	Abnormality of the liver	1	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0002012	HP:0001392	Abnormality of the liver	1	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0002012	HP:0001392	Abnormality of the liver	1	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0002012	HP:0001392	Abnormality of the liver	1	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11			40
HP:0002012	HP:0001392	Abnormality of the liver	1	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0002012	HP:0001392	Abnormality of the liver	1	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0002012	HP:0001392	Abnormality of the liver	1	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0002012	HP:0001392	Abnormality of the liver	1	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0002012	HP:0001392	Abnormality of the liver	1	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0002012	HP:0001392	Abnormality of the liver	1	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0002012	HP:0001392	Abnormality of the liver	1	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0002012	HP:0001392	Abnormality of the liver	1	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0002012	HP:0001392	Abnormality of the liver	1	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0002012	HP:0001392	Abnormality of the liver	1	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0002012	HP:0001392	Abnormality of the liver	1	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0002012	HP:0001392	Abnormality of the liver	1	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0002012	HP:0001732	Abnormality of the pancreas	1	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8			22
HP:0002012	HP:0001392	Abnormality of the liver	1	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0002012	HP:0001392	Abnormality of the liver	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0002012	HP:0001743	Abnormality of the spleen	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0002012	HP:0001392	Abnormality of the liver	1	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0002012	HP:0001392	Abnormality of the liver	1	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0002012	HP:0001392	Abnormality of the liver	1	NDUFS7 CL E G H	374291	7714	OMIM:618224	Mitochondrial complex I deficiency, nuclear type 3			38
HP:0002012	HP:0001392	Abnormality of the liver	1	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0002012	HP:0001392	Abnormality of the liver	1	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0002012	HP:0001392	Abnormality of the liver	1	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0002012	HP:0001392	Abnormality of the liver	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0002012	HP:0001732	Abnormality of the pancreas	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0002012	HP:0001743	Abnormality of the spleen	1	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0001392	Abnormality of the liver	1	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2			43
HP:0002012	HP:0001743	Abnormality of the spleen	1	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2			43
HP:0002012	HP:0001392	Abnormality of the liver	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0002012	HP:0011620	Abnormality of abdominal situs	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0002012	HP:0001743	Abnormality of the spleen	1	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0002012	HP:0001392	Abnormality of the liver	1	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0002012	HP:0001743	Abnormality of the spleen	1	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0002012	HP:0001392	Abnormality of the liver	1	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0002012	HP:0001743	Abnormality of the spleen	1	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0002012	HP:0001743	Abnormality of the spleen	1	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1			43
HP:0002012	HP:0001392	Abnormality of the liver	1	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY			32
HP:0002012	HP:0001732	Abnormality of the pancreas	1	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY			32
HP:0002012	HP:0001392	Abnormality of the liver	1	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis			5
HP:0002012	HP:0001392	Abnormality of the liver	1	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		7
HP:0002012	HP:0001743	Abnormality of the spleen	1	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency			7
HP:0002012	HP:0001392	Abnormality of the liver	1	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		11
HP:0002012	HP:0001743	Abnormality of the spleen	1	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency			11
HP:0002012	HP:0001392	Abnormality of the liver	1	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52			5
HP:0002012	HP:0001732	Abnormality of the pancreas	1	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52			5
HP:0002012	HP:0001392	Abnormality of the liver	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0002012	HP:0001743	Abnormality of the spleen	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0002012	HP:0001392	Abnormality of the liver	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0002012	HP:0001392	Abnormality of the liver	1	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0002012	HP:0001743	Abnormality of the spleen	1	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0002012	HP:0001392	Abnormality of the liver	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0002012	HP:0001732	Abnormality of the pancreas	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0002012	HP:0001743	Abnormality of the spleen	1	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0002012	HP:0001392	Abnormality of the liver	1	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			27
HP:0002012	HP:0001392	Abnormality of the liver	1	NHP2 CL E G H	55651	14377	OMIM:613987	Dyskeratosis congenita, autosomal recessive, 2			27
HP:0002012	HP:0001392	Abnormality of the liver	1	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia			90
HP:0002012	HP:0001743	Abnormality of the spleen	1	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC			30
HP:0002012	HP:0001392	Abnormality of the liver	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK			37
HP:0002012	HP:0001743	Abnormality of the spleen	1	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK			37
HP:0002012	HP:0001743	Abnormality of the spleen	1	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2			99
HP:0002012	HP:0001392	Abnormality of the liver	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome			217
HP:0002012	HP:0001743	Abnormality of the spleen	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome			217
HP:0002012	HP:0001392	Abnormality of the liver	1	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0002012	HP:0001743	Abnormality of the spleen	1	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0002012	HP:0001392	Abnormality of the liver	1	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0002012	HP:0001743	Abnormality of the spleen	1	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0002012	HP:0001743	Abnormality of the spleen	1	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0002012	HP:0001392	Abnormality of the liver	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040283 - Occasional		187
HP:0002012	HP:0001743	Abnormality of the spleen	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0002012	HP:0001743	Abnormality of the spleen	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0002012	HP:0011620	Abnormality of abdominal situs	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0002012	HP:0001392	Abnormality of the liver	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0002012	HP:0001732	Abnormality of the pancreas	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0002012	HP:0001743	Abnormality of the spleen	1	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0002012	HP:0001392	Abnormality of the liver	1	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			17
HP:0002012	HP:0001392	Abnormality of the liver	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0002012	HP:0001743	Abnormality of the spleen	1	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0002012	HP:0001392	Abnormality of the liver	1	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2			138
HP:0002012	HP:0001392	Abnormality of the liver	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0002012	HP:0001743	Abnormality of the spleen	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0002012	HP:0001732	Abnormality of the pancreas	1	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis			144
HP:0002012	HP:0001392	Abnormality of the liver	1	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1			258
HP:0002012	HP:0001743	Abnormality of the spleen	1	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1			258
HP:0002012	HP:0001392	Abnormality of the liver	1	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2			33
HP:0002012	HP:0001743	Abnormality of the spleen	1	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2			33
HP:0002012	HP:0001392	Abnormality of the liver	1	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome			85
HP:0002012	HP:0001392	Abnormality of the liver	1	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome			85
HP:0002012	HP:0001392	Abnormality of the liver	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0002012	HP:0001732	Abnormality of the pancreas	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0002012	HP:0001743	Abnormality of the spleen	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0002012	HP:0001392	Abnormality of the liver	1	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3			157
HP:0002012	HP:0001392	Abnormality of the liver	1	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome			157
HP:0002012	HP:0001732	Abnormality of the pancreas	1	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome	HP:0040282 - Frequent		157
HP:0002012	HP:0001392	Abnormality of the liver	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0002012	HP:0001732	Abnormality of the pancreas	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0002012	HP:0001743	Abnormality of the spleen	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0002012	HP:0001392	Abnormality of the liver	1	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome			157
HP:0002012	HP:0001392	Abnormality of the liver	1	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome			220
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	NPHS1 CL E G H	4868	7908	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			241
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	NPHS2 CL E G H	7827	13394	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			69
HP:0002012	HP:0001392	Abnormality of the liver	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0002012	HP:0001732	Abnormality of the pancreas	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0002012	HP:0001743	Abnormality of the spleen	1	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0002012	HP:0001392	Abnormality of the liver	1	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5			14
HP:0002012	HP:0001392	Abnormality of the liver	1	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy			14
HP:0002012	HP:0001732	Abnormality of the pancreas	1	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		14
HP:0002012	HP:0001392	Abnormality of the liver	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0002012	HP:0001743	Abnormality of the spleen	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		102
HP:0002012	HP:0001392	Abnormality of the liver	1	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic			102
HP:0002012	HP:0001743	Abnormality of the spleen	1	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic			102
HP:0002012	HP:0001392	Abnormality of the liver	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0002012	HP:0001392	Abnormality of the liver	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0002012	HP:0001392	Abnormality of the liver	1	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0002012	HP:0001732	Abnormality of the pancreas	1	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0002012	HP:0001392	Abnormality of the liver	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0002012	HP:0001392	Abnormality of the liver	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0002012	HP:0001743	Abnormality of the spleen	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0002012	HP:0011620	Abnormality of abdominal situs	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0002012	HP:0001392	Abnormality of the liver	1	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			2
HP:0002012	HP:0001392	Abnormality of the liver	1	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10			2
HP:0002012	HP:0001732	Abnormality of the pancreas	1	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10			2
HP:0002012	HP:0001732	Abnormality of the pancreas	1	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3			2
HP:0002012	HP:0001732	Abnormality of the pancreas	1	NTHL1 CL E G H	4913	8028	ORPHA:454840	NTHL1-related attenuated familial adenomatous polyposis			2
HP:0002012	HP:0001392	Abnormality of the liver	1	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	NUP107 CL E G H	57122	29914	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			5
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	NUP133 CL E G H	55746	18016	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			1
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	NUP160 CL E G H	23279	18017	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	NUP205 CL E G H	23165	18658	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			1
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	NUP37 CL E G H	79023	29929	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	NUP85 CL E G H	79902	8734	ORPHA:656	Genetic steroid-resistant nephrotic syndrome
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	NUP93 CL E G H	9688	28958	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			5
HP:0002012	HP:0001732	Abnormality of the pancreas	1	NUTM1 CL E G H	256646	29919	ORPHA:443167	NUT midline carcinoma
HP:0002012	HP:0001743	Abnormality of the spleen	1	OAS1 CL E G H	4938	8086	OMIM:618042	Pulmonary alveolar proteinosis with hypogammaglobulinemia			2
HP:0002012	HP:0001392	Abnormality of the liver	1	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0002012	HP:0001743	Abnormality of the spleen	1	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0002012	HP:0001743	Abnormality of the spleen	1	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0001743	Abnormality of the spleen	1	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0001743	Abnormality of the spleen	1	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0001743	Abnormality of the spleen	1	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0001392	Abnormality of the liver	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0002012	HP:0001732	Abnormality of the pancreas	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0002012	HP:0001732	Abnormality of the pancreas	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional		201
HP:0002012	HP:0001743	Abnormality of the spleen	1	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0002012	HP:0001743	Abnormality of the spleen	1	ORAI1 CL E G H	84876	25896	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome			19
HP:0002012	HP:0001392	Abnormality of the liver	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0002012	HP:0001743	Abnormality of the spleen	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0002012	HP:0001743	Abnormality of the spleen	1	OTC CL E G H	5009	8512	ORPHA:664	Ornithine transcarbamylase deficiency			369
HP:0002012	HP:0001392	Abnormality of the liver	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0002012	HP:0001392	Abnormality of the liver	1	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma			1349
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma			1349
HP:0002012	HP:0001743	Abnormality of the spleen	1	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma			1349
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma			1349
HP:0002012	HP:0001392	Abnormality of the liver	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1349
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PALB2 CL E G H	79728	26144	ORPHA:145	Hereditary breast and ovarian cancer syndrome			1349
HP:0002012	HP:0001392	Abnormality of the liver	1	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma			192
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma			192
HP:0002012	HP:0001743	Abnormality of the spleen	1	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma			192
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma			192
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PALLD CL E G H	23022	17068	OMIM:606856	PANCREATIC CANCER, SUSCEPTIBILITY TO, 1			192
HP:0002012	HP:0001392	Abnormality of the liver	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0002012	HP:0001743	Abnormality of the spleen	1	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0002012	HP:0001392	Abnormality of the liver	1	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	PAX2 CL E G H	5076	8616	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			39
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PAX4 CL E G H	5078	8618	OMIM:612227	Diabetes mellitus, ketosis-prone			55
HP:0002012	HP:0001392	Abnormality of the liver	1	PAX4 CL E G H	5078	8618	ORPHA:552	MODY			55
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PAX4 CL E G H	5078	8618	ORPHA:552	MODY			55
HP:0002012	HP:0001392	Abnormality of the liver	1	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia			63
HP:0002012	HP:0001392	Abnormality of the liver	1	PAX8 CL E G H	7849	8622	ORPHA:95720	Thyroid hypoplasia			63
HP:0002012	HP:0001392	Abnormality of the liver	1	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency			118
HP:0002012	HP:0001392	Abnormality of the liver	1	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia			96
HP:0002012	HP:0001392	Abnormality of the liver	1	PCCA CL E G H	5095	8653	ORPHA:35	Propionic acidemia			96
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia			96
HP:0002012	HP:0001392	Abnormality of the liver	1	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia			92
HP:0002012	HP:0001392	Abnormality of the liver	1	PCCB CL E G H	5096	8654	ORPHA:35	Propionic acidemia			92
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia			92
HP:0002012	HP:0001392	Abnormality of the liver	1	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic			53
HP:0002012	HP:0001392	Abnormality of the liver	1	PCK2 CL E G H	5106	8725	OMIM:261650	Phosphoenolpyruvate carboxykinase 2, mitochondrial			6
HP:0002012	HP:0001392	Abnormality of the liver	1	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency			65
HP:0002012	HP:0001392	Abnormality of the liver	1	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia			178
HP:0002012	HP:0001392	Abnormality of the liver	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2			13
HP:0002012	HP:0001392	Abnormality of the liver	1	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0002012	HP:0001392	Abnormality of the liver	1	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0002012	HP:0001392	Abnormality of the liver	1	PDGFB CL E G H	5155	8800	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040282 - Frequent		9
HP:0002012	HP:0001392	Abnormality of the liver	1	PDGFRA CL E G H	5156	8803	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040283 - Occasional		337
HP:0002012	HP:0001392	Abnormality of the liver	1	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic			337
HP:0002012	HP:0001743	Abnormality of the spleen	1	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic			337
HP:0002012	HP:0001392	Abnormality of the liver	1	PDGFRB CL E G H	5159	8804	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040282 - Frequent		28
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis			28
HP:0002012	HP:0001392	Abnormality of the liver	1	PDGFRL CL E G H	5157	8805	OMIM:114550	Hepatocellular carcinoma			2
HP:0002012	HP:0001392	Abnormality of the liver	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0002012	HP:0001392	Abnormality of the liver	1	PDX1 CL E G H	3651	6107	ORPHA:552	MODY			30
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PDX1 CL E G H	3651	6107	ORPHA:552	MODY			30
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital			30
HP:0002012	HP:0001392	Abnormality of the liver	1	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0002012	HP:0001392	Abnormality of the liver	1	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0002012	HP:0001743	Abnormality of the spleen	1	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0002012	HP:0001743	Abnormality of the spleen	1	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0002012	HP:0001392	Abnormality of the liver	1	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease			169
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX1 CL E G H	5189	8850	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		169
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B			169
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease			75
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX10 CL E G H	5192	8851	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		75
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)			75
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease			4
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX11B CL E G H	8799	8853	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		4
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease			65
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX12 CL E G H	5193	8854	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		65
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)			65
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B			65
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease			66
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX13 CL E G H	5194	8855	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		66
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease			46
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX14 CL E G H	5195	8856	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		46
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX14 CL E G H	5195	8856	OMIM:614887	Peroxisome biogenesis disorder 13A (Zellweger)			46
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease			59
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX16 CL E G H	9409	8857	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		59
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)			59
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease			62
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX19 CL E G H	5824	9713	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		62
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease			82
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX2 CL E G H	5828	9717	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		82
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0002012	HP:0001743	Abnormality of the spleen	1	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease			106
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX26 CL E G H	55670	22965	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		106
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)			106
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease			47
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX3 CL E G H	8504	8858	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		47
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)			47
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease			99
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX5 CL E G H	5830	9719	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		99
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease			98
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX6 CL E G H	5190	8859	ORPHA:44	Neonatal adrenoleukodystrophy	HP:0040281 - Very frequent		98
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX6 CL E G H	5190	8859	OMIM:614862	Peroxisome biogenesis disorder 4A (Zellweger)			98
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B			98
HP:0002012	HP:0001392	Abnormality of the liver	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0002012	HP:0001743	Abnormality of the spleen	1	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease			72
HP:0002012	HP:0001392	Abnormality of the liver	1	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII			64
HP:0002012	HP:0001392	Abnormality of the liver	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0002012	HP:0001392	Abnormality of the liver	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0002012	HP:0001743	Abnormality of the spleen	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0002012	HP:0001392	Abnormality of the liver	1	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa			54
HP:0002012	HP:0001743	Abnormality of the spleen	1	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa			54
HP:0002012	HP:0001392	Abnormality of the liver	1	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0002012	HP:0001743	Abnormality of the spleen	1	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0002012	HP:0001392	Abnormality of the liver	1	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb			101
HP:0002012	HP:0001743	Abnormality of the spleen	1	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb			101
HP:0002012	HP:0001392	Abnormality of the liver	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0002012	HP:0001743	Abnormality of the spleen	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0002012	HP:0001392	Abnormality of the liver	1	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc			48
HP:0002012	HP:0001743	Abnormality of the spleen	1	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc			48
HP:0002012	HP:0001743	Abnormality of the spleen	1	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease			45
HP:0002012	HP:0001392	Abnormality of the liver	1	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0002012	HP:0001392	Abnormality of the liver	1	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis			36
HP:0002012	HP:0001743	Abnormality of the spleen	1	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis			36
HP:0002012	HP:0001392	Abnormality of the liver	1	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema			36
HP:0002012	HP:0001743	Abnormality of the spleen	1	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema			36
HP:0002012	HP:0001743	Abnormality of the spleen	1	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0002012	HP:0001392	Abnormality of the liver	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0002012	HP:0001392	Abnormality of the liver	1	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0002012	HP:0001743	Abnormality of the spleen	1	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0002012	HP:0001392	Abnormality of the liver	1	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria			46
HP:0002012	HP:0001392	Abnormality of the liver	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0002012	HP:0011620	Abnormality of abdominal situs	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0002012	HP:0001392	Abnormality of the liver	1	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency			6
HP:0002012	HP:0001743	Abnormality of the spleen	1	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency			6
HP:0002012	HP:0001392	Abnormality of the liver	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0002012	HP:0001392	Abnormality of the liver	1	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi			162
HP:0002012	HP:0001392	Abnormality of the liver	1	PIK3CA CL E G H	5290	8975	OMIM:114550	Hepatocellular carcinoma			162
HP:0002012	HP:0001392	Abnormality of the liver	1	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome			162
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome			162
HP:0002012	HP:0001743	Abnormality of the spleen	1	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14			9
HP:0002012	HP:0001743	Abnormality of the spleen	1	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97			2
HP:0002012	HP:0001392	Abnormality of the liver	1	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia			43
HP:0002012	HP:0001743	Abnormality of the spleen	1	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36			43
HP:0002012	HP:0001392	Abnormality of the liver	1	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease			342
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease			342
HP:0002012	HP:0001392	Abnormality of the liver	1	PKD1 CL E G H	5310	9008	OMIM:173900	Polycystic kidneys			342
HP:0002012	HP:0011620	Abnormality of abdominal situs	1	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal			3
HP:0002012	HP:0001392	Abnormality of the liver	1	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease			106
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease			106
HP:0002012	HP:0001392	Abnormality of the liver	1	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2			106
HP:0002012	HP:0001392	Abnormality of the liver	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0002012	HP:0001743	Abnormality of the spleen	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0002012	HP:0001392	Abnormality of the liver	1	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease			563
HP:0002012	HP:0001743	Abnormality of the spleen	1	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease			563
HP:0002012	HP:0001392	Abnormality of the liver	1	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease			563
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease			563
HP:0002012	HP:0001743	Abnormality of the spleen	1	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease			563
HP:0002012	HP:0001392	Abnormality of the liver	1	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency			51
HP:0002012	HP:0001743	Abnormality of the spleen	1	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency			51
HP:0002012	HP:0001392	Abnormality of the liver	1	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0002012	HP:0001743	Abnormality of the spleen	1	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0002012	HP:0001392	Abnormality of the liver	1	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	PLCE1 CL E G H	51196	17175	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			118
HP:0002012	HP:0001392	Abnormality of the liver	1	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis			2
HP:0002012	HP:0001743	Abnormality of the spleen	1	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis			2
HP:0002012	HP:0001392	Abnormality of the liver	1	PLEKHM1 CL E G H	9842	29017	OMIM:618107	OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3			2
HP:0002012	HP:0001743	Abnormality of the spleen	1	PLEKHM1 CL E G H	9842	29017	OMIM:618107	OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3			2
HP:0002012	HP:0001392	Abnormality of the liver	1	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4			19
HP:0002012	HP:0001392	Abnormality of the liver	1	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy			19
HP:0002012	HP:0001392	Abnormality of the liver	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0002012	HP:0001392	Abnormality of the liver	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0002012	HP:0001392	Abnormality of the liver	1	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome			56
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome			56
HP:0002012	HP:0001392	Abnormality of the liver	1	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome			1121
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome			1121
HP:0002012	HP:0001743	Abnormality of the spleen	1	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency			52
HP:0002012	HP:0001392	Abnormality of the liver	1	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy			65
HP:0002012	HP:0001392	Abnormality of the liver	1	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0002012	HP:0001392	Abnormality of the liver	1	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy			65
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy			65
HP:0002012	HP:0001743	Abnormality of the spleen	1	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy			65
HP:0002012	HP:0001392	Abnormality of the liver	1	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0002012	HP:0001392	Abnormality of the liver	1	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome			731
HP:0002012	HP:0001392	Abnormality of the liver	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		464
HP:0002012	HP:0001392	Abnormality of the liver	1	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)			464
HP:0002012	HP:0001392	Abnormality of the liver	1	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0002012	HP:0001392	Abnormality of the liver	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		45
HP:0002012	HP:0001392	Abnormality of the liver	1	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)			45
HP:0002012	HP:0001392	Abnormality of the liver	1	POLG2 CL E G H	11232	9180	OMIM:610131	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4	HP:0040283 - Occasional		45
HP:0002012	HP:0001392	Abnormality of the liver	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0002012	HP:0001392	Abnormality of the liver	1	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency			27
HP:0002012	HP:0001392	Abnormality of the liver	1	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair			27
HP:0002012	HP:0001732	Abnormality of the pancreas	1	POT1 CL E G H	25913	17284	ORPHA:618	Familial melanoma			23
HP:0002012	HP:0001392	Abnormality of the liver	1	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0002012	HP:0001392	Abnormality of the liver	1	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1			36
HP:0002012	HP:0001392	Abnormality of the liver	1	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0001392	Abnormality of the liver	1	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma			2
HP:0002012	HP:0001392	Abnormality of the liver	1	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0002012	HP:0001392	Abnormality of the liver	1	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3			42
HP:0002012	HP:0001392	Abnormality of the liver	1	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0002012	HP:0001743	Abnormality of the spleen	1	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0002012	HP:0001392	Abnormality of the liver	1	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040284 - Very rare		41
HP:0002012	HP:0001392	Abnormality of the liver	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0002012	HP:0001743	Abnormality of the spleen	1	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0002012	HP:0001392	Abnormality of the liver	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0002012	HP:0001743	Abnormality of the spleen	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0002012	HP:0001392	Abnormality of the liver	1	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			58
HP:0002012	HP:0001743	Abnormality of the spleen	1	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			58
HP:0002012	HP:0001392	Abnormality of the liver	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0002012	HP:0001743	Abnormality of the spleen	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0002012	HP:0001392	Abnormality of the liver	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002012	HP:0001743	Abnormality of the spleen	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002012	HP:0001392	Abnormality of the liver	1	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0002012	HP:0001392	Abnormality of the liver	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0002012	HP:0001392	Abnormality of the liver	1	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma			134
HP:0002012	HP:0001392	Abnormality of the liver	1	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0002012	HP:0001392	Abnormality of the liver	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome			10
HP:0002012	HP:0001743	Abnormality of the spleen	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome			10
HP:0002012	HP:0001392	Abnormality of the liver	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0002012	HP:0001743	Abnormality of the spleen	1	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0002012	HP:0001392	Abnormality of the liver	1	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		10
HP:0002012	HP:0001743	Abnormality of the spleen	1	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency			10
HP:0002012	HP:0001392	Abnormality of the liver	1	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease			63
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional		63
HP:0002012	HP:0001392	Abnormality of the liver	1	PRKCSH CL E G H	5589	9411	OMIM:174050	Polycystic liver disease 1 with or without kidney cysts			63
HP:0002012	HP:0001392	Abnormality of the liver	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001392	Abnormality of the liver	1	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0002012	HP:0001392	Abnormality of the liver	1	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0002012	HP:0001392	Abnormality of the liver	1	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis			51
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis			51
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary			51
HP:0002012	HP:0001392	Abnormality of the liver	1	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis			1
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis			1
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary			1
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0002012	HP:0001392	Abnormality of the liver	1	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency			81
HP:0002012	HP:0001743	Abnormality of the spleen	1	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency			81
HP:0002012	HP:0001392	Abnormality of the liver	1	PSAP CL E G H	5660	9498	ORPHA:139406	Encephalopathy due to prosaposin deficiency			81
HP:0002012	HP:0001743	Abnormality of the spleen	1	PSAP CL E G H	5660	9498	ORPHA:139406	Encephalopathy due to prosaposin deficiency			81
HP:0002012	HP:0001392	Abnormality of the liver	1	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0002012	HP:0001743	Abnormality of the spleen	1	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0002012	HP:0001392	Abnormality of the liver	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0002012	HP:0001392	Abnormality of the liver	1	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0002012	HP:0001392	Abnormality of the liver	1	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0002012	HP:0001392	Abnormality of the liver	1	PSMB10 CL E G H	5699	9538	OMIM:619175	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0002012	HP:0001743	Abnormality of the spleen	1	PSMB10 CL E G H	5699	9538	OMIM:619175	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0002012	HP:0001392	Abnormality of the liver	1	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0002012	HP:0001743	Abnormality of the spleen	1	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0002012	HP:0001392	Abnormality of the liver	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0002012	HP:0001743	Abnormality of the spleen	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0002012	HP:0001392	Abnormality of the liver	1	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0002012	HP:0001743	Abnormality of the spleen	1	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0002012	HP:0001392	Abnormality of the liver	1	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0002012	HP:0001743	Abnormality of the spleen	1	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0002012	HP:0001392	Abnormality of the liver	1	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0002012	HP:0001743	Abnormality of the spleen	1	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PTEN CL E G H	5728	9588	ORPHA:145	Hereditary breast and ovarian cancer syndrome			948
HP:0002012	HP:0001392	Abnormality of the liver	1	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome			948
HP:0002012	HP:0001743	Abnormality of the spleen	1	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome			948
HP:0002012	HP:0001743	Abnormality of the spleen	1	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0002012	HP:0001743	Abnormality of the spleen	1	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome			948
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PTF1A CL E G H	256297	23734	OMIM:615935	Pancreatic agenesis 2			22
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome			22
HP:0002012	HP:0001392	Abnormality of the liver	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0002012	HP:0001743	Abnormality of the spleen	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		291
HP:0002012	HP:0001392	Abnormality of the liver	1	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0002012	HP:0001743	Abnormality of the spleen	1	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis			3
HP:0002012	HP:0001392	Abnormality of the liver	1	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			3
HP:0002012	HP:0001743	Abnormality of the spleen	1	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			3
HP:0002012	HP:0001392	Abnormality of the liver	1	PTPN3 CL E G H	5774	9655	ORPHA:70567	Cholangiocarcinoma			1
HP:0002012	HP:0001392	Abnormality of the liver	1	PTPRC CL E G H	5788	9666	OMIM:619924				25
HP:0002012	HP:0001743	Abnormality of the spleen	1	PTPRC CL E G H	5788	9666	OMIM:619924				25
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	PTPRO CL E G H	5800	9678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			2
HP:0002012	HP:0001392	Abnormality of the liver	1	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0002012	HP:0001392	Abnormality of the liver	1	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0002012	HP:0001732	Abnormality of the pancreas	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0002012	HP:0001392	Abnormality of the liver	1	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0002012	HP:0001392	Abnormality of the liver	1	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency			71
HP:0002012	HP:0001392	Abnormality of the liver	1	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI			71
HP:0002012	HP:0001743	Abnormality of the spleen	1	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome			31
HP:0002012	HP:0001743	Abnormality of the spleen	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0002012	HP:0001392	Abnormality of the liver	1	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2			67
HP:0002012	HP:0001743	Abnormality of the spleen	1	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2			67
HP:0002012	HP:0001392	Abnormality of the liver	1	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2			67
HP:0002012	HP:0001743	Abnormality of the spleen	1	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2			67
HP:0002012	HP:0001392	Abnormality of the liver	1	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0002012	HP:0001732	Abnormality of the pancreas	1	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0002012	HP:0001743	Abnormality of the spleen	1	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0002012	HP:0001732	Abnormality of the pancreas	1	RABL3 CL E G H	285282	18072	OMIM:618680	PANCREATIC CANCER, SUSCEPTIBILITY TO, 5; PNCA5
HP:0002012	HP:0001392	Abnormality of the liver	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B			9
HP:0002012	HP:0001743	Abnormality of the spleen	1	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B			9
HP:0002012	HP:0001732	Abnormality of the pancreas	1	RAD50 CL E G H	10111	9816	ORPHA:145	Hereditary breast and ovarian cancer syndrome			789
HP:0002012	HP:0001392	Abnormality of the liver	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		9
HP:0002012	HP:0001732	Abnormality of the pancreas	1	RAD51 CL E G H	5888	9817	ORPHA:145	Hereditary breast and ovarian cancer syndrome			9
HP:0002012	HP:0001392	Abnormality of the liver	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		391
HP:0002012	HP:0001732	Abnormality of the pancreas	1	RAD51C CL E G H	5889	9820	ORPHA:145	Hereditary breast and ovarian cancer syndrome			391
HP:0002012	HP:0001732	Abnormality of the pancreas	1	RAD51D CL E G H	5892	9823	ORPHA:145	Hereditary breast and ovarian cancer syndrome			345
HP:0002012	HP:0001392	Abnormality of the liver	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0002012	HP:0001743	Abnormality of the spleen	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		212
HP:0002012	HP:0001743	Abnormality of the spleen	1	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency			127
HP:0002012	HP:0001392	Abnormality of the liver	1	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome			127
HP:0002012	HP:0001392	Abnormality of the liver	1	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome			127
HP:0002012	HP:0001743	Abnormality of the spleen	1	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome			127
HP:0002012	HP:0001743	Abnormality of the spleen	1	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome			127
HP:0002012	HP:0001392	Abnormality of the liver	1	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			127
HP:0002012	HP:0001743	Abnormality of the spleen	1	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			127
HP:0002012	HP:0001392	Abnormality of the liver	1	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome			50
HP:0002012	HP:0001392	Abnormality of the liver	1	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome			50
HP:0002012	HP:0001743	Abnormality of the spleen	1	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome			50
HP:0002012	HP:0001743	Abnormality of the spleen	1	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome			50
HP:0002012	HP:0001392	Abnormality of the liver	1	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			50
HP:0002012	HP:0001743	Abnormality of the spleen	1	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			50
HP:0002012	HP:0001732	Abnormality of the pancreas	1	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome			9
HP:0002012	HP:0001743	Abnormality of the spleen	1	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome			9
HP:0002012	HP:0001392	Abnormality of the liver	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0002012	HP:0001743	Abnormality of the spleen	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		3
HP:0002012	HP:0001392	Abnormality of the liver	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0002012	HP:0001743	Abnormality of the spleen	1	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0002012	HP:0001392	Abnormality of the liver	1	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0002012	HP:0001743	Abnormality of the spleen	1	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0002012	HP:0001392	Abnormality of the liver	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0002012	HP:0001732	Abnormality of the pancreas	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0002012	HP:0001743	Abnormality of the spleen	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0002012	HP:0001392	Abnormality of the liver	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0002012	HP:0001392	Abnormality of the liver	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome			445
HP:0002012	HP:0001732	Abnormality of the pancreas	1	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0002012	HP:0001392	Abnormality of the liver	1	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92			1
HP:0002012	HP:0001392	Abnormality of the liver	1	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			334
HP:0002012	HP:0001392	Abnormality of the liver	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0002012	HP:0001732	Abnormality of the pancreas	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0002012	HP:0001743	Abnormality of the spleen	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0002012	HP:0001732	Abnormality of the pancreas	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0002012	HP:0001392	Abnormality of the liver	1	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma			7
HP:0002012	HP:0001392	Abnormality of the liver	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN			92
HP:0002012	HP:0001392	Abnormality of the liver	1	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG			92
HP:0002012	HP:0001392	Abnormality of the liver	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0002012	HP:0001743	Abnormality of the spleen	1	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W
HP:0002012	HP:0001392	Abnormality of the liver	1	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II			38
HP:0002012	HP:0001392	Abnormality of the liver	1	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II			38
HP:0002012	HP:0001392	Abnormality of the liver	1	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome			28
HP:0002012	HP:0001732	Abnormality of the pancreas	1	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome			28
HP:0002012	HP:0001392	Abnormality of the liver	1	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II			26
HP:0002012	HP:0001392	Abnormality of the liver	1	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II			26
HP:0002012	HP:0001392	Abnormality of the liver	1	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II			34
HP:0002012	HP:0001392	Abnormality of the liver	1	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II			34
HP:0002012	HP:0001392	Abnormality of the liver	1	RHAG CL E G H	6005	10006	OMIM:268150	Anemia, hemolytic, Rh-null, Regulator type			13
HP:0002012	HP:0001392	Abnormality of the liver	1	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis			13
HP:0002012	HP:0001392	Abnormality of the liver	1	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis			13
HP:0002012	HP:0001743	Abnormality of the spleen	1	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis			13
HP:0002012	HP:0001743	Abnormality of the spleen	1	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis			13
HP:0002012	HP:0001392	Abnormality of the liver	1	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome			13
HP:0002012	HP:0001743	Abnormality of the spleen	1	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome			13
HP:0002012	HP:0001392	Abnormality of the liver	1	RHBDF2 CL E G H	79651	20788	ORPHA:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome			80
HP:0002012	HP:0001392	Abnormality of the liver	1	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome			8
HP:0002012	HP:0001743	Abnormality of the spleen	1	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome			8
HP:0002012	HP:0001392	Abnormality of the liver	1	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced			16
HP:0002012	HP:0001743	Abnormality of the spleen	1	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced			16
HP:0002012	HP:0001392	Abnormality of the liver	1	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome			16
HP:0002012	HP:0001743	Abnormality of the spleen	1	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome			16
HP:0002012	HP:0001392	Abnormality of the liver	1	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3			99
HP:0002012	HP:0001743	Abnormality of the spleen	1	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3			99
HP:0002012	HP:0001392	Abnormality of the liver	1	RIPK1 CL E G H	8737	10019	OMIM:618852	AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0002012	HP:0001743	Abnormality of the spleen	1	RIPK1 CL E G H	8737	10019	OMIM:618852	AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0002012	HP:0001392	Abnormality of the liver	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0002012	HP:0001743	Abnormality of the spleen	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		39
HP:0002012	HP:0001392	Abnormality of the liver	1	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11			26
HP:0002012	HP:0001392	Abnormality of the liver	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0002012	HP:0001732	Abnormality of the pancreas	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent		37
HP:0002012	HP:0001392	Abnormality of the liver	1	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome			37
HP:0002012	HP:0001743	Abnormality of the spleen	1	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome			37
HP:0002012	HP:0001392	Abnormality of the liver	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0002012	HP:0001743	Abnormality of the spleen	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0002012	HP:0001392	Abnormality of the liver	1	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4			33
HP:0002012	HP:0001743	Abnormality of the spleen	1	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4			33
HP:0002012	HP:0001392	Abnormality of the liver	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0002012	HP:0001743	Abnormality of the spleen	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0002012	HP:0001392	Abnormality of the liver	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0002012	HP:0001743	Abnormality of the spleen	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0002012	HP:0001392	Abnormality of the liver	1	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3			60
HP:0002012	HP:0001743	Abnormality of the spleen	1	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3			60
HP:0002012	HP:0001392	Abnormality of the liver	1	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome			5
HP:0002012	HP:0001732	Abnormality of the pancreas	1	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome			5
HP:0002012	HP:0001392	Abnormality of the liver	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0002012	HP:0001392	Abnormality of the liver	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0002012	HP:0001392	Abnormality of the liver	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0002012	HP:0001743	Abnormality of the spleen	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0002012	HP:0001743	Abnormality of the spleen	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0002012	HP:0001392	Abnormality of the liver	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002012	HP:0001732	Abnormality of the pancreas	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002012	HP:0001743	Abnormality of the spleen	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002012	HP:0001743	Abnormality of the spleen	1	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0002012	HP:0001392	Abnormality of the liver	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome			109
HP:0002012	HP:0001732	Abnormality of the pancreas	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome			109
HP:0002012	HP:0001743	Abnormality of the spleen	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome			109
HP:0002012	HP:0001392	Abnormality of the liver	1	RPGRIP1L CL E G H	23322	29168	OMIM:619113	COACH SYNDROME 3; COACH3			167
HP:0002012	HP:0001392	Abnormality of the liver	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0002012	HP:0001743	Abnormality of the spleen	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0002012	HP:0001392	Abnormality of the liver	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome			167
HP:0002012	HP:0001732	Abnormality of the pancreas	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome			167
HP:0002012	HP:0001743	Abnormality of the spleen	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome			167
HP:0002012	HP:0001392	Abnormality of the liver	1	RPGRIP1L CL E G H	23322	29168	OMIM:611561	Meckel syndrome, type 5			167
HP:0002012	HP:0001392	Abnormality of the liver	1	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X			1
HP:0002012	HP:0001732	Abnormality of the pancreas	1	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	RPSA CL E G H	3921	6502	OMIM:271400	Asplenia, isolated congenital			9
HP:0002012	HP:0001392	Abnormality of the liver	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0002012	HP:0001392	Abnormality of the liver	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		1
HP:0002012	HP:0001392	Abnormality of the liver	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		125
HP:0002012	HP:0001392	Abnormality of the liver	1	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0002012	HP:0001743	Abnormality of the spleen	1	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0002012	HP:0001743	Abnormality of the spleen	1	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0002012	HP:0001743	Abnormality of the spleen	1	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0002012	HP:0001743	Abnormality of the spleen	1	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0002012	HP:0001392	Abnormality of the liver	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0002012	HP:0001732	Abnormality of the pancreas	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0002012	HP:0001743	Abnormality of the spleen	1	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0002012	HP:0001392	Abnormality of the liver	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0002012	HP:0001743	Abnormality of the spleen	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0002012	HP:0001392	Abnormality of the liver	1	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis			181
HP:0002012	HP:0001743	Abnormality of the spleen	1	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis			181
HP:0002012	HP:0001743	Abnormality of the spleen	1	RUNX1 CL E G H	861	10471	ORPHA:521	Chronic myeloid leukemia			181
HP:0002012	HP:0001392	Abnormality of the liver	1	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis			2
HP:0002012	HP:0001743	Abnormality of the spleen	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome			8
HP:0002012	HP:0001743	Abnormality of the spleen	1	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome			4
HP:0002012	HP:0001392	Abnormality of the liver	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0002012	HP:0001743	Abnormality of the spleen	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0002012	HP:0001392	Abnormality of the liver	1	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease			8
HP:0002012	HP:0001392	Abnormality of the liver	1	SASH3 CL E G H	54440	15975	OMIM:301082				1
HP:0002012	HP:0001392	Abnormality of the liver	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome			26
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome			26
HP:0002012	HP:0001392	Abnormality of the liver	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1			26
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1			26
HP:0002012	HP:0001392	Abnormality of the liver	1	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis			80
HP:0002012	HP:0001392	Abnormality of the liver	1	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0002012	HP:0001743	Abnormality of the spleen	1	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0002012	HP:0001392	Abnormality of the liver	1	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1			77
HP:0002012	HP:0001743	Abnormality of the spleen	1	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1			77
HP:0002012	HP:0001392	Abnormality of the liver	1	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			67
HP:0002012	HP:0001392	Abnormality of the liver	1	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			61
HP:0002012	HP:0001392	Abnormality of the liver	1	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			57
HP:0002012	HP:0001392	Abnormality of the liver	1	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0002012	HP:0001392	Abnormality of the liver	1	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0002012	HP:0001392	Abnormality of the liver	1	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome			5
HP:0002012	HP:0001743	Abnormality of the spleen	1	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome			5
HP:0002012	HP:0001392	Abnormality of the liver	1	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21			5
HP:0002012	HP:0001743	Abnormality of the spleen	1	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21			5
HP:0002012	HP:0001392	Abnormality of the liver	1	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome			61
HP:0002012	HP:0001392	Abnormality of the liver	1	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome			61
HP:0002012	HP:0001392	Abnormality of the liver	1	SDHA CL E G H	6389	10680	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040283 - Occasional		304
HP:0002012	HP:0001392	Abnormality of the liver	1	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0002012	HP:0001392	Abnormality of the liver	1	SDHB CL E G H	6390	10681	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040283 - Occasional		237
HP:0002012	HP:0001392	Abnormality of the liver	1	SDHC CL E G H	6391	10682	ORPHA:44890	Gastrointestinal stromal tumor	HP:0040283 - Occasional		147
HP:0002012	HP:0001392	Abnormality of the liver	1	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome			129
HP:0002012	HP:0001392	Abnormality of the liver	1	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0002012	HP:0001392	Abnormality of the liver	1	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II			60
HP:0002012	HP:0001743	Abnormality of the spleen	1	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II			60
HP:0002012	HP:0001392	Abnormality of the liver	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease			137
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease	HP:0040283 - Occasional		137
HP:0002012	HP:0001392	Abnormality of the liver	1	SEC63 CL E G H	11231	21082	OMIM:617004	Polycystic liver disease 2			137
HP:0002012	HP:0001392	Abnormality of the liver	1	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X			48
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X			48
HP:0002012	HP:0001392	Abnormality of the liver	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0002012	HP:0001743	Abnormality of the spleen	1	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0002012	HP:0001392	Abnormality of the liver	1	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency			131
HP:0002012	HP:0001392	Abnormality of the liver	1	SERPINA1 CL E G H	5265	8941	ORPHA:60	Alpha-1-antitrypsin deficiency			131
HP:0002012	HP:0001743	Abnormality of the spleen	1	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency			131
HP:0002012	HP:0001392	Abnormality of the liver	1	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency			39
HP:0002012	HP:0001392	Abnormality of the liver	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0002012	HP:0001743	Abnormality of the spleen	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0002012	HP:0001392	Abnormality of the liver	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0002012	HP:0001392	Abnormality of the liver	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0002012	HP:0001392	Abnormality of the liver	1	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia			19
HP:0002012	HP:0001743	Abnormality of the spleen	1	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia			19
HP:0002012	HP:0001392	Abnormality of the liver	1	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic			10
HP:0002012	HP:0001392	Abnormality of the liver	1	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic			33
HP:0002012	HP:0001392	Abnormality of the liver	1	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0002012	HP:0001743	Abnormality of the spleen	1	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0002012	HP:0001743	Abnormality of the spleen	1	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1			4
HP:0002012	HP:0001743	Abnormality of the spleen	1	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia			4
HP:0002012	HP:0001743	Abnormality of the spleen	1	SH2B3 CL E G H	10019	29605	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included			4
HP:0002012	HP:0001743	Abnormality of the spleen	1	SH2B3 CL E G H	10019	29605	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1			4
HP:0002012	HP:0001392	Abnormality of the liver	1	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1			37
HP:0002012	HP:0001743	Abnormality of the spleen	1	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1			37
HP:0002012	HP:0001392	Abnormality of the liver	1	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency			2
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0002012	HP:0001392	Abnormality of the liver	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0002012	HP:0001743	Abnormality of the spleen	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0002012	HP:0001392	Abnormality of the liver	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0002012	HP:0001743	Abnormality of the spleen	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0002012	HP:0001392	Abnormality of the liver	1	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0002012	HP:0001392	Abnormality of the liver	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0002012	HP:0001743	Abnormality of the spleen	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0002012	HP:0001392	Abnormality of the liver	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0002012	HP:0001743	Abnormality of the spleen	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC10A1 CL E G H	6554	10905	OMIM:619256	HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC11A2 CL E G H	4891	10908	OMIM:206100	Anemia, hypochromic microcytic, with iron overload 1	.		60
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SLC16A1 CL E G H	6566	10922	OMIM:610021	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7			74
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease			78
HP:0002012	HP:0001743	Abnormality of the spleen	1	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease			78
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC20A2 CL E G H	6575	10947	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040282 - Frequent		70
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary			207
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC22A5 CL E G H	6584	10969	ORPHA:158	Systemic primary carnitine deficiency			207
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria			28
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II			82
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II			82
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset			82
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset			82
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset			82
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency			82
HP:0002012	HP:0001743	Abnormality of the spleen	1	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency			82
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome			88
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome			88
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly			36
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type			36
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency			40
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency			40
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		68
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC26A4 CL E G H	5172	8818	ORPHA:95720	Thyroid hypoplasia			274
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0002012	HP:0001743	Abnormality of the spleen	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0002012	HP:0001743	Abnormality of the spleen	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0002012	HP:0001743	Abnormality of the spleen	1	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2			255
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0002012	HP:0001743	Abnormality of the spleen	1	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects			255
HP:0002012	HP:0001743	Abnormality of the spleen	1	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects			255
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome			71
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040282 - Frequent		42
HP:0002012	HP:0001743	Abnormality of the spleen	1	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome			42
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1			42
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0002012	HP:0001743	Abnormality of the spleen	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib			110
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib			110
HP:0002012	HP:0001743	Abnormality of the spleen	1	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib			110
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic			110
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic			110
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type			55
HP:0002012	HP:0001743	Abnormality of the spleen	1	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type			55
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional		11
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC40A1 CL E G H	30061	10909	ORPHA:139491	Hemochromatosis type 4			56
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4			56
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	SLC4A1 CL E G H	6521	11027	OMIM:185020	CRYOHYDROCYTOSIS			109
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis			109
HP:0002012	HP:0001743	Abnormality of the spleen	1	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis			109
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis			109
HP:0002012	HP:0001743	Abnormality of the spleen	1	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis			109
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0002012	HP:0001743	Abnormality of the spleen	1	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC4A1 CL E G H	6521	11027	OMIM:612653	Spherocytosis, type 4			109
HP:0002012	HP:0001743	Abnormality of the spleen	1	SLC4A1 CL E G H	6521	11027	OMIM:612653	Spherocytosis, type 4			109
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis			59
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance			104
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance			104
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0002012	HP:0001743	Abnormality of the spleen	1	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance			104
HP:0002012	HP:0001743	Abnormality of the spleen	1	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0002012	HP:0001392	Abnormality of the liver	1	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0002012	HP:0001392	Abnormality of the liver	1	SLCO1B1 CL E G H	10599	10959	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic			52
HP:0002012	HP:0001392	Abnormality of the liver	1	SLCO1B1 CL E G H	10599	10959	ORPHA:3111	Rotor syndrome			52
HP:0002012	HP:0001392	Abnormality of the liver	1	SLCO1B3 CL E G H	28234	10961	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic			60
HP:0002012	HP:0001392	Abnormality of the liver	1	SLCO1B3 CL E G H	28234	10961	ORPHA:3111	Rotor syndrome			60
HP:0002012	HP:0001392	Abnormality of the liver	1	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis			13
HP:0002012	HP:0001743	Abnormality of the spleen	1	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis			13
HP:0002012	HP:0001392	Abnormality of the liver	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		274
HP:0002012	HP:0001743	Abnormality of the spleen	1	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0002012	HP:0001392	Abnormality of the liver	1	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma			504
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma			504
HP:0002012	HP:0001743	Abnormality of the spleen	1	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma			504
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma			504
HP:0002012	HP:0001392	Abnormality of the liver	1	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia			504
HP:0002012	HP:0001392	Abnormality of the liver	1	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome			504
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SMAD4 CL E G H	4089	6770	OMIM:260350	Pancreatic cancer			504
HP:0002012	HP:0001392	Abnormality of the liver	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia			74
HP:0002012	HP:0001392	Abnormality of the liver	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0002012	HP:0001392	Abnormality of the liver	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0002012	HP:0001392	Abnormality of the liver	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0002012	HP:0001392	Abnormality of the liver	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B			164
HP:0002012	HP:0001743	Abnormality of the spleen	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B			164
HP:0002012	HP:0001392	Abnormality of the liver	1	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0002012	HP:0001743	Abnormality of the spleen	1	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0002012	HP:0001392	Abnormality of the liver	1	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B			164
HP:0002012	HP:0001743	Abnormality of the spleen	1	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B			164
HP:0002012	HP:0001392	Abnormality of the liver	1	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0002012	HP:0001743	Abnormality of the spleen	1	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0002012	HP:0001392	Abnormality of the liver	1	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8			2
HP:0002012	HP:0001743	Abnormality of the spleen	1	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8			2
HP:0002012	HP:0001392	Abnormality of the liver	1	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0002012	HP:0001743	Abnormality of the spleen	1	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0002012	HP:0001392	Abnormality of the liver	1	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0002012	HP:0001743	Abnormality of the spleen	1	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0002012	HP:0001392	Abnormality of the liver	1	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD			6
HP:0002012	HP:0001743	Abnormality of the spleen	1	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD			6
HP:0002012	HP:0001392	Abnormality of the liver	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0002012	HP:0001392	Abnormality of the liver	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0002012	HP:0001392	Abnormality of the liver	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0002012	HP:0001743	Abnormality of the spleen	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		315
HP:0002012	HP:0001392	Abnormality of the liver	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0002012	HP:0001743	Abnormality of the spleen	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		30
HP:0002012	HP:0001392	Abnormality of the liver	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0002012	HP:0001743	Abnormality of the spleen	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0002012	HP:0001392	Abnormality of the liver	1	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0002012	HP:0001743	Abnormality of the spleen	1	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0002012	HP:0001392	Abnormality of the liver	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0002012	HP:0001392	Abnormality of the liver	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome			49
HP:0002012	HP:0001743	Abnormality of the spleen	1	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome			49
HP:0002012	HP:0001392	Abnormality of the liver	1	SP110 CL E G H	3431	5401	OMIM:235550	Hepatic venoocclusive disease with immunodeficiency	.		49
HP:0002012	HP:0001743	Abnormality of the spleen	1	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0002012	HP:0001743	Abnormality of the spleen	1	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0002012	HP:0001392	Abnormality of the liver	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0002012	HP:0001743	Abnormality of the spleen	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0002012	HP:0001392	Abnormality of the liver	1	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0001392	Abnormality of the liver	1	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis			34
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis			34
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary			34
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SPINK1 CL E G H	6690	11244	OMIM:608189	Tropical calcific pancreatitis			34
HP:0002012	HP:0001392	Abnormality of the liver	1	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0002012	HP:0001392	Abnormality of the liver	1	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0002012	HP:0001392	Abnormality of the liver	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0002012	HP:0001392	Abnormality of the liver	1	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome			3
HP:0002012	HP:0001392	Abnormality of the liver	1	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis			228
HP:0002012	HP:0001743	Abnormality of the spleen	1	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis			228
HP:0002012	HP:0001392	Abnormality of the liver	1	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis			228
HP:0002012	HP:0001743	Abnormality of the spleen	1	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis			228
HP:0002012	HP:0001392	Abnormality of the liver	1	SPTB CL E G H	6710	11274	OMIM:617948	ELLIPTOCYTOSIS 3; EL3			156
HP:0002012	HP:0001392	Abnormality of the liver	1	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis			156
HP:0002012	HP:0001743	Abnormality of the spleen	1	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis			156
HP:0002012	HP:0001392	Abnormality of the liver	1	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis			156
HP:0002012	HP:0001743	Abnormality of the spleen	1	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis			156
HP:0002012	HP:0001392	Abnormality of the liver	1	SPTB CL E G H	6710	11274	OMIM:616649	SPHEROCYTOSIS, TYPE 2; SPH2			156
HP:0002012	HP:0001743	Abnormality of the spleen	1	SPTB CL E G H	6710	11274	OMIM:616649	SPHEROCYTOSIS, TYPE 2; SPH2			156
HP:0002012	HP:0001392	Abnormality of the liver	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0002012	HP:0001392	Abnormality of the liver	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0002012	HP:0001732	Abnormality of the pancreas	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0002012	HP:0001392	Abnormality of the liver	1	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis			1
HP:0002012	HP:0001392	Abnormality of the liver	1	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			1
HP:0002012	HP:0001392	Abnormality of the liver	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0002012	HP:0001743	Abnormality of the spleen	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0002012	HP:0001392	Abnormality of the liver	1	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C			89
HP:0002012	HP:0001743	Abnormality of the spleen	1	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C			89
HP:0002012	HP:0001392	Abnormality of the liver	1	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0002012	HP:0001732	Abnormality of the pancreas	1	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0002012	HP:0001743	Abnormality of the spleen	1	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0002012	HP:0001732	Abnormality of the pancreas	1	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0002012	HP:0001732	Abnormality of the pancreas	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0002012	HP:0001743	Abnormality of the spleen	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0002012	HP:0001392	Abnormality of the liver	1	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			2
HP:0002012	HP:0001743	Abnormality of the spleen	1	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			2
HP:0002012	HP:0001392	Abnormality of the liver	1	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma			1
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare		1
HP:0002012	HP:0001392	Abnormality of the liver	1	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2			1
HP:0002012	HP:0001392	Abnormality of the liver	1	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome			31
HP:0002012	HP:0001743	Abnormality of the spleen	1	STIM1 CL E G H	6786	11386	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome			31
HP:0002012	HP:0001732	Abnormality of the pancreas	1	STK11 CL E G H	6794	11389	OMIM:260350	Pancreatic cancer			740
HP:0002012	HP:0001392	Abnormality of the liver	1	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome			740
HP:0002012	HP:0001392	Abnormality of the liver	1	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome			740
HP:0002012	HP:0001732	Abnormality of the pancreas	1	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome			740
HP:0002012	HP:0001732	Abnormality of the pancreas	1	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome			740
HP:0002012	HP:0001743	Abnormality of the spleen	1	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0002012	HP:0001392	Abnormality of the liver	1	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2			2
HP:0002012	HP:0001392	Abnormality of the liver	1	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia			2
HP:0002012	HP:0001732	Abnormality of the pancreas	1	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome			71
HP:0002012	HP:0001743	Abnormality of the spleen	1	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome			71
HP:0002012	HP:0001743	Abnormality of the spleen	1	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0002012	HP:0001732	Abnormality of the pancreas	1	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency			14
HP:0002012	HP:0001392	Abnormality of the liver	1	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			85
HP:0002012	HP:0001743	Abnormality of the spleen	1	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			85
HP:0002012	HP:0001392	Abnormality of the liver	1	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4			85
HP:0002012	HP:0001743	Abnormality of the spleen	1	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4			85
HP:0002012	HP:0001392	Abnormality of the liver	1	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0001732	Abnormality of the pancreas	1	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0001392	Abnormality of the liver	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			70
HP:0002012	HP:0001743	Abnormality of the spleen	1	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			70
HP:0002012	HP:0001392	Abnormality of the liver	1	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5			70
HP:0002012	HP:0001743	Abnormality of the spleen	1	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5			70
HP:0002012	HP:0001392	Abnormality of the liver	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0002012	HP:0001392	Abnormality of the liver	1	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency			80
HP:0002012	HP:0001392	Abnormality of the liver	1	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency			80
HP:0002012	HP:0001743	Abnormality of the spleen	1	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency			80
HP:0002012	HP:0001743	Abnormality of the spleen	1	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency			80
HP:0002012	HP:0001392	Abnormality of the liver	1	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0002012	HP:0001392	Abnormality of the liver	1	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0002012	HP:0001392	Abnormality of the liver	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0002012	HP:0001392	Abnormality of the liver	1	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0002012	HP:0001392	Abnormality of the liver	1	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency			34
HP:0002012	HP:0001743	Abnormality of the spleen	1	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0002012	HP:0001743	Abnormality of the spleen	1	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency			34
HP:0002012	HP:0001392	Abnormality of the liver	1	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21			28
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	TBC1D8B CL E G H	54885	24715	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			1
HP:0002012	HP:0001392	Abnormality of the liver	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0002012	HP:0001743	Abnormality of the spleen	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0002012	HP:0001392	Abnormality of the liver	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0002012	HP:0001743	Abnormality of the spleen	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0002012	HP:0001392	Abnormality of the liver	1	TBX19 CL E G H	9095	11596	OMIM:201400	Acth deficiency, isolated			57
HP:0002012	HP:0001392	Abnormality of the liver	1	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency			57
HP:0002012	HP:0001743	Abnormality of the spleen	1	TBXAS1 CL E G H	6916	11609	ORPHA:1802	Ghosal hematodiaphyseal dysplasia			16
HP:0002012	HP:0001743	Abnormality of the spleen	1	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B			2
HP:0002012	HP:0001392	Abnormality of the liver	1	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia			2
HP:0002012	HP:0001392	Abnormality of the liver	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0002012	HP:0001743	Abnormality of the spleen	1	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0002012	HP:0001392	Abnormality of the liver	1	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0002012	HP:0001743	Abnormality of the spleen	1	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0002012	HP:0001392	Abnormality of the liver	1	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis			82
HP:0002012	HP:0001743	Abnormality of the spleen	1	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis			82
HP:0002012	HP:0001392	Abnormality of the liver	1	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0002012	HP:0001743	Abnormality of the spleen	1	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0002012	HP:0001392	Abnormality of the liver	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome			45
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome			45
HP:0002012	HP:0001743	Abnormality of the spleen	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome			45
HP:0002012	HP:0001392	Abnormality of the liver	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome			76
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome			76
HP:0002012	HP:0001743	Abnormality of the spleen	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome			76
HP:0002012	HP:0001392	Abnormality of the liver	1	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18			31
HP:0002012	HP:0001392	Abnormality of the liver	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome			31
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome			31
HP:0002012	HP:0001743	Abnormality of the spleen	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome			31
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0002012	HP:0001392	Abnormality of the liver	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0002012	HP:0001743	Abnormality of the spleen	1	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0002012	HP:0001392	Abnormality of the liver	1	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			48
HP:0002012	HP:0001392	Abnormality of the liver	1	TERC CL E G H	7012	11727	OMIM:614743	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2			48
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TERF2IP CL E G H	54386	19246	ORPHA:618	Familial melanoma
HP:0002012	HP:0001392	Abnormality of the liver	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0002012	HP:0001743	Abnormality of the spleen	1	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0002012	HP:0001392	Abnormality of the liver	1	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2			238
HP:0002012	HP:0001392	Abnormality of the liver	1	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			238
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TERT CL E G H	7015	11730	ORPHA:618	Familial melanoma			238
HP:0002012	HP:0001392	Abnormality of the liver	1	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0002012	HP:0001392	Abnormality of the liver	1	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic			238
HP:0002012	HP:0001392	Abnormality of the liver	1	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia			3
HP:0002012	HP:0001743	Abnormality of the spleen	1	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia			3
HP:0002012	HP:0001392	Abnormality of the liver	1	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis			3
HP:0002012	HP:0001743	Abnormality of the spleen	1	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis			3
HP:0002012	HP:0001743	Abnormality of the spleen	1	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia			3
HP:0002012	HP:0001392	Abnormality of the liver	1	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75			3
HP:0002012	HP:0001743	Abnormality of the spleen	1	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75			3
HP:0002012	HP:0001392	Abnormality of the liver	1	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera			3
HP:0002012	HP:0001743	Abnormality of the spleen	1	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera			3
HP:0002012	HP:0001392	Abnormality of the liver	1	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis			3
HP:0002012	HP:0001743	Abnormality of the spleen	1	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis			3
HP:0002012	HP:0001392	Abnormality of the liver	1	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			3
HP:0002012	HP:0001743	Abnormality of the spleen	1	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			3
HP:0002012	HP:0001392	Abnormality of the liver	1	TF CL E G H	7018	11740	OMIM:209300	ATRANSFERRINEMIA	.		45
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TF CL E G H	7018	11740	ORPHA:1195	Congenital atransferrinemia	HP:0040283 - Occasional		45
HP:0002012	HP:0001392	Abnormality of the liver	1	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)			1
HP:0002012	HP:0001392	Abnormality of the liver	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0002012	HP:0001743	Abnormality of the spleen	1	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0002012	HP:0001392	Abnormality of the liver	1	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3			67
HP:0002012	HP:0001392	Abnormality of the liver	1	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis			155
HP:0002012	HP:0001392	Abnormality of the liver	1	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0002012	HP:0001743	Abnormality of the spleen	1	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0002012	HP:0001392	Abnormality of the liver	1	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0002012	HP:0001392	Abnormality of the liver	1	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0002012	HP:0001743	Abnormality of the spleen	1	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0002012	HP:0001392	Abnormality of the liver	1	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome			253
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome			253
HP:0002012	HP:0001743	Abnormality of the spleen	1	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis			23
HP:0002012	HP:0001743	Abnormality of the spleen	1	THPO CL E G H	7066	11795	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1			23
HP:0002012	HP:0001392	Abnormality of the liver	1	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0002012	HP:0001392	Abnormality of the liver	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0002012	HP:0001743	Abnormality of the spleen	1	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0002012	HP:0001392	Abnormality of the liver	1	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			60
HP:0002012	HP:0001392	Abnormality of the liver	1	TJP2 CL E G H	9414	11828	OMIM:615878	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4			149
HP:0002012	HP:0001392	Abnormality of the liver	1	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0002012	HP:0001392	Abnormality of the liver	1	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0002012	HP:0001743	Abnormality of the spleen	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0002012	HP:0001392	Abnormality of the liver	1	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0002012	HP:0001743	Abnormality of the spleen	1	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0002012	HP:0001392	Abnormality of the liver	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome			4
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome			4
HP:0002012	HP:0001743	Abnormality of the spleen	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome			4
HP:0002012	HP:0001392	Abnormality of the liver	1	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0002012	HP:0001392	Abnormality of the liver	1	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK			24
HP:0002012	HP:0001392	Abnormality of the liver	1	TMEM199 CL E G H	147007	18085	OMIM:616829	Congenital disorder of glycosylation, type IIP			4
HP:0002012	HP:0001392	Abnormality of the liver	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome			45
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome			45
HP:0002012	HP:0001743	Abnormality of the spleen	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome			45
HP:0002012	HP:0001392	Abnormality of the liver	1	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2			45
HP:0002012	HP:0001392	Abnormality of the liver	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome			33
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome			33
HP:0002012	HP:0001743	Abnormality of the spleen	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome			33
HP:0002012	HP:0001392	Abnormality of the liver	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome			82
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome			82
HP:0002012	HP:0001743	Abnormality of the spleen	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome			82
HP:0002012	HP:0001392	Abnormality of the liver	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0002012	HP:0001743	Abnormality of the spleen	1	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0002012	HP:0001392	Abnormality of the liver	1	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6			166
HP:0002012	HP:0001392	Abnormality of the liver	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0002012	HP:0001743	Abnormality of the spleen	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0002012	HP:0001392	Abnormality of the liver	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome			166
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome			166
HP:0002012	HP:0001743	Abnormality of the spleen	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome			166
HP:0002012	HP:0001392	Abnormality of the liver	1	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3			166
HP:0002012	HP:0001392	Abnormality of the liver	1	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11			166
HP:0002012	HP:0001392	Abnormality of the liver	1	TMEM67 CL E G H	91147	28396	ORPHA:140976	RHYNS syndrome	HP:0040281 - Very frequent		166
HP:0002012	HP:0001392	Abnormality of the liver	1	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0002012	HP:0001743	Abnormality of the spleen	1	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0002012	HP:0001392	Abnormality of the liver	1	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0002012	HP:0100016	Abnormality of mesentery morphology	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0002012	HP:0001392	Abnormality of the liver	1	TMPRSS6 CL E G H	164656	16517	ORPHA:209981	IRIDA syndrome			65
HP:0002012	HP:0001392	Abnormality of the liver	1	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0002012	HP:0001743	Abnormality of the spleen	1	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0002012	HP:0001392	Abnormality of the liver	1	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		32
HP:0002012	HP:0001743	Abnormality of the spleen	1	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency			32
HP:0002012	HP:0001392	Abnormality of the liver	1	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2			32
HP:0002012	HP:0001743	Abnormality of the spleen	1	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2			32
HP:0002012	HP:0001392	Abnormality of the liver	1	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		12
HP:0002012	HP:0001743	Abnormality of the spleen	1	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency			12
HP:0002012	HP:0001392	Abnormality of the liver	1	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2			12
HP:0002012	HP:0001743	Abnormality of the spleen	1	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2			12
HP:0002012	HP:0001392	Abnormality of the liver	1	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant			131
HP:0002012	HP:0001743	Abnormality of the spleen	1	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome			131
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome			131
HP:0002012	HP:0001392	Abnormality of the liver	1	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides
HP:0002012	HP:0001743	Abnormality of the spleen	1	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides
HP:0002012	HP:0001392	Abnormality of the liver	1	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	TNFRSF4 CL E G H	7293	11918	OMIM:615593	Immunodeficiency 16			2
HP:0002012	HP:0001392	Abnormality of the liver	1	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0002012	HP:0001743	Abnormality of the spleen	1	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0002012	HP:0001392	Abnormality of the liver	1	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0002012	HP:0001743	Abnormality of the spleen	1	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0002012	HP:0001392	Abnormality of the liver	1	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		1
HP:0002012	HP:0001743	Abnormality of the spleen	1	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency			1
HP:0002012	HP:0001392	Abnormality of the liver	1	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0001392	Abnormality of the liver	1	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy			180
HP:0002012	HP:0001392	Abnormality of the liver	1	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy			248
HP:0002012	HP:0001392	Abnormality of the liver	1	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis			71
HP:0002012	HP:0001392	Abnormality of the liver	1	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0002012	HP:0001392	Abnormality of the liver	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia			911
HP:0002012	HP:0001392	Abnormality of the liver	1	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma			911
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma			911
HP:0002012	HP:0001743	Abnormality of the spleen	1	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma			911
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma			911
HP:0002012	HP:0001392	Abnormality of the liver	1	TP53 CL E G H	7157	11998	OMIM:114550	Hepatocellular carcinoma			911
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TP53 CL E G H	7157	11998	ORPHA:145	Hereditary breast and ovarian cancer syndrome			911
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome			911
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome			911
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TP53 CL E G H	7157	11998	OMIM:260350	Pancreatic cancer			911
HP:0002012	HP:0001392	Abnormality of the liver	1	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0002012	HP:0001743	Abnormality of the spleen	1	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0002012	HP:0001392	Abnormality of the liver	1	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis			92
HP:0002012	HP:0001392	Abnormality of the liver	1	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0002012	HP:0001392	Abnormality of the liver	1	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome			6
HP:0002012	HP:0001392	Abnormality of the liver	1	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9			6
HP:0002012	HP:0001392	Abnormality of the liver	1	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis			4
HP:0002012	HP:0001392	Abnormality of the liver	1	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18			27
HP:0002012	HP:0001392	Abnormality of the liver	1	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18			27
HP:0002012	HP:0001392	Abnormality of the liver	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0002012	HP:0001743	Abnormality of the spleen	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0002012	HP:0001392	Abnormality of the liver	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0002012	HP:0001743	Abnormality of the spleen	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0002012	HP:0001392	Abnormality of the liver	1	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations			56
HP:0002012	HP:0001392	Abnormality of the liver	1	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy			56
HP:0002012	HP:0001392	Abnormality of the liver	1	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome			2
HP:0002012	HP:0001392	Abnormality of the liver	1	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma			2
HP:0002012	HP:0001392	Abnormality of the liver	1	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome			108
HP:0002012	HP:0001392	Abnormality of the liver	1	TRIM37 CL E G H	4591	7523	ORPHA:2576	Mulibrey nanism			78
HP:0002012	HP:0001392	Abnormality of the liver	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0002012	HP:0001392	Abnormality of the liver	1	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma			2
HP:0002012	HP:0001392	Abnormality of the liver	1	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0002012	HP:0001392	Abnormality of the liver	1	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient			101
HP:0002012	HP:0001392	Abnormality of the liver	1	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040283 - Occasional		101
HP:0002012	HP:0001392	Abnormality of the liver	1	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040283 - Occasional
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0002012	HP:0001392	Abnormality of the liver	1	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0002012	HP:0001392	Abnormality of the liver	1	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0002012	HP:0001392	Abnormality of the liver	1	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0002012	HP:0001743	Abnormality of the spleen	1	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0002012	HP:0001392	Abnormality of the liver	1	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0002012	HP:0001392	Abnormality of the liver	1	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	TRPC6 CL E G H	7225	12338	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			107
HP:0002012	HP:0001392	Abnormality of the liver	1	TRPV6 CL E G H	55503	14006	ORPHA:417	Neonatal severe primary hyperparathyroidism			4
HP:0002012	HP:0001743	Abnormality of the spleen	1	TRPV6 CL E G H	55503	14006	ORPHA:417	Neonatal severe primary hyperparathyroidism			4
HP:0002012	HP:0001392	Abnormality of the liver	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0002012	HP:0001392	Abnormality of the liver	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0002012	HP:0001392	Abnormality of the liver	1	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3			43
HP:0002012	HP:0001392	Abnormality of the liver	1	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency			9
HP:0002012	HP:0001392	Abnormality of the liver	1	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations			97
HP:0002012	HP:0001392	Abnormality of the liver	1	TSHR CL E G H	7253	12373	ORPHA:95720	Thyroid hypoplasia			97
HP:0002012	HP:0001743	Abnormality of the spleen	1	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0001392	Abnormality of the liver	1	TTC21B CL E G H	79809	25660	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		132
HP:0002012	HP:0001392	Abnormality of the liver	1	TTC21B CL E G H	79809	25660	OMIM:613819	Short-Rib thoracic dysplasia 4 with or without polydactyly			132
HP:0002012	HP:0001392	Abnormality of the liver	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002012	HP:0001743	Abnormality of the spleen	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002012	HP:0001392	Abnormality of the liver	1	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0002012	HP:0001392	Abnormality of the liver	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome			26
HP:0002012	HP:0001392	Abnormality of the liver	1	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome			41
HP:0002012	HP:0001392	Abnormality of the liver	1	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4			55
HP:0002012	HP:0001392	Abnormality of the liver	1	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0002012	HP:0001743	Abnormality of the spleen	1	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0002012	HP:0001743	Abnormality of the spleen	1	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0002012	HP:0001392	Abnormality of the liver	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040284 - Very rare		113
HP:0002012	HP:0001392	Abnormality of the liver	1	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0002012	HP:0001392	Abnormality of the liver	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome			2
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome			2
HP:0002012	HP:0001743	Abnormality of the spleen	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome			2
HP:0002012	HP:0001392	Abnormality of the liver	1	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0002012	HP:0001392	Abnormality of the liver	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0002012	HP:0001732	Abnormality of the pancreas	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0002012	HP:0001732	Abnormality of the pancreas	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0002012	HP:0001743	Abnormality of the spleen	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0002012	HP:0001392	Abnormality of the liver	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		2
HP:0002012	HP:0001392	Abnormality of the liver	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001732	Abnormality of the pancreas	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001392	Abnormality of the liver	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0002012	HP:0001732	Abnormality of the pancreas	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0002012	HP:0001732	Abnormality of the pancreas	1	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040281 - Very frequent		25
HP:0002012	HP:0001392	Abnormality of the liver	1	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency			15
HP:0002012	HP:0001732	Abnormality of the pancreas	1	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency			15
HP:0002012	HP:0001392	Abnormality of the liver	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0002012	HP:0001743	Abnormality of the spleen	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1	HP:0040281 - Very frequent		73
HP:0002012	HP:0001392	Abnormality of the liver	1	UGT1A1 CL E G H	54658	12530	ORPHA:79235	Crigler-Najjar syndrome type 2			73
HP:0002012	HP:0001392	Abnormality of the liver	1	UGT1A1 CL E G H	54658	12530	OMIM:218800	Crigler-Najjar syndrome, type I			73
HP:0002012	HP:0001392	Abnormality of the liver	1	UGT1A1 CL E G H	54658	12530	OMIM:606785	Crigler-najjar syndrome, type II			73
HP:0002012	HP:0001392	Abnormality of the liver	1	UGT1A1 CL E G H	54658	12530	OMIM:237900	Hyperbilirubinemia, familial transient neonatal			73
HP:0002012	HP:0001743	Abnormality of the spleen	1	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria			135
HP:0002012	HP:0001392	Abnormality of the liver	1	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			116
HP:0002012	HP:0001743	Abnormality of the spleen	1	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			116
HP:0002012	HP:0001392	Abnormality of the liver	1	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3			116
HP:0002012	HP:0001743	Abnormality of the spleen	1	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3			116
HP:0002012	HP:0001392	Abnormality of the liver	1	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0002012	HP:0001392	Abnormality of the liver	1	UQCRB CL E G H	7381	12582	OMIM:615158	Mitochondrial complex III deficiency, nuclear type 3			13
HP:0002012	HP:0001392	Abnormality of the liver	1	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0002012	HP:0001743	Abnormality of the spleen	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0002012	HP:0001392	Abnormality of the liver	1	UROD CL E G H	7389	12591	OMIM:176100	Porphyria cutanea tarda			31
HP:0002012	HP:0001743	Abnormality of the spleen	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0002012	HP:0001392	Abnormality of the liver	1	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0002012	HP:0001743	Abnormality of the spleen	1	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0002012	HP:0001392	Abnormality of the liver	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0002012	HP:0001732	Abnormality of the pancreas	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0002012	HP:0001743	Abnormality of the spleen	1	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0002012	HP:0001743	Abnormality of the spleen	1	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0002012	HP:0001392	Abnormality of the liver	1	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2			2
HP:0002012	HP:0001392	Abnormality of the liver	1	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0002012	HP:0001743	Abnormality of the spleen	1	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0002012	HP:0001392	Abnormality of the liver	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0002012	HP:0001392	Abnormality of the liver	1	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			63
HP:0002012	HP:0001732	Abnormality of the pancreas	1	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0002012	HP:0001392	Abnormality of the liver	1	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome	.		490
HP:0002012	HP:0001732	Abnormality of the pancreas	1	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome			490
HP:0002012	HP:0001392	Abnormality of the liver	1	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0002012	HP:0001392	Abnormality of the liver	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0002012	HP:0001743	Abnormality of the spleen	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0002012	HP:0001392	Abnormality of the liver	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0002012	HP:0001392	Abnormality of the liver	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0002012	HP:0001743	Abnormality of the spleen	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0002012	HP:0001392	Abnormality of the liver	1	VPS33B CL E G H	26276	12712	OMIM:620010				63
HP:0002012	HP:0001743	Abnormality of the spleen	1	VPS33B CL E G H	26276	12712	OMIM:620010				63
HP:0002012	HP:0001392	Abnormality of the liver	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0002012	HP:0001392	Abnormality of the liver	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive			7
HP:0002012	HP:0001743	Abnormality of the spleen	1	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive			7
HP:0002012	HP:0001392	Abnormality of the liver	1	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0002012	HP:0001392	Abnormality of the liver	1	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0002012	HP:0001392	Abnormality of the liver	1	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome			60
HP:0002012	HP:0001743	Abnormality of the spleen	1	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0002012	HP:0001392	Abnormality of the liver	1	WDR19 CL E G H	57728	18340	ORPHA:474	Jeune syndrome	HP:0040283 - Occasional		95
HP:0002012	HP:0001392	Abnormality of the liver	1	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13			95
HP:0002012	HP:0001732	Abnormality of the pancreas	1	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13			95
HP:0002012	HP:0001392	Abnormality of the liver	1	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome			95
HP:0002012	HP:0001392	Abnormality of the liver	1	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8			95
HP:0002012	HP:0001732	Abnormality of the pancreas	1	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8			95
HP:0002012	HP:0001392	Abnormality of the liver	1	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly			95
HP:0002012	HP:0001392	Abnormality of the liver	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0002012	HP:0001743	Abnormality of the spleen	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0002012	HP:0001392	Abnormality of the liver	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			136
HP:0002012	HP:0001392	Abnormality of the liver	1	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly			136
HP:0002012	HP:0100016	Abnormality of mesentery morphology	1	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040282 - Frequent		389
HP:0002012	HP:0001743	Abnormality of the spleen	1	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive			12
HP:0002012	HP:0001392	Abnormality of the liver	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0002012	HP:0001732	Abnormality of the pancreas	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0002012	HP:0001743	Abnormality of the spleen	1	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0002012	HP:0001392	Abnormality of the liver	1	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor			177
HP:0002012	HP:0001732	Abnormality of the pancreas	1	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor			177
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040281 - Very frequent		177
HP:0002012	HP:0002585	Abnormality of the peritoneum	1	WT1 CL E G H	7490	12796	ORPHA:656	Genetic steroid-resistant nephrotic syndrome			177
HP:0002012	HP:0001743	Abnormality of the spleen	1	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040283 - Occasional		177
HP:0002012	HP:0001743	Abnormality of the spleen	1	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0002012	HP:0001392	Abnormality of the liver	1	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma			177
HP:0002012	HP:0001392	Abnormality of the liver	1	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1			81
HP:0002012	HP:0001743	Abnormality of the spleen	1	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1			81
HP:0002012	HP:0001392	Abnormality of the liver	1	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2			81
HP:0002012	HP:0001743	Abnormality of the spleen	1	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2			81
HP:0002012	HP:0001392	Abnormality of the liver	1	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome			8
HP:0002012	HP:0001743	Abnormality of the spleen	1	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome			8
HP:0002012	HP:0001732	Abnormality of the pancreas	1	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1			109
HP:0002012	HP:0001392	Abnormality of the liver	1	XPR1 CL E G H	9213	12827	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040282 - Frequent		4
HP:0002012	HP:0001392	Abnormality of the liver	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		125
HP:0002012	HP:0001392	Abnormality of the liver	1	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome			9
HP:0002012	HP:0001392	Abnormality of the liver	1	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			9
HP:0002012	HP:0001392	Abnormality of the liver	1	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG			14
HP:0002012	HP:0001392	Abnormality of the liver	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002012	HP:0001732	Abnormality of the pancreas	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002012	HP:0001743	Abnormality of the spleen	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002012	HP:0001392	Abnormality of the liver	1	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2			45
HP:0002012	HP:0001732	Abnormality of the pancreas	1	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma			7
HP:0002012	HP:0001392	Abnormality of the liver	1	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency			46
HP:0002012	HP:0001743	Abnormality of the spleen	1	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency			46
HP:0002012	HP:0001392	Abnormality of the liver	1	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT			46
HP:0002012	HP:0001743	Abnormality of the spleen	1	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT			46
HP:0002012	HP:0001743	Abnormality of the spleen	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0002012	HP:0001743	Abnormality of the spleen	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0002012	HP:0001392	Abnormality of the liver	1	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma
HP:0002012	HP:0001392	Abnormality of the liver	1	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0002012	HP:0001743	Abnormality of the spleen	1	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0002012	HP:0001392	Abnormality of the liver	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0002012	HP:0001743	Abnormality of the spleen	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0002012	HP:0011620	Abnormality of abdominal situs	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0002012	HP:0001743	Abnormality of the spleen	1	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0002012	HP:0001392	Abnormality of the liver	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0002012	HP:0001743	Abnormality of the spleen	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0002012	HP:0001392	Abnormality of the liver	1	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0002012	HP:0001743	Abnormality of the spleen	1	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0002012	HP:0001392	Abnormality of the liver	1	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0002012	HP:0030995	Peritoneal effusion	2	CL E G H
HP:0002012	HP:0034477	Perihepatic adhesions	2	CL E G H
HP:0002012	HP:0100003	Peritoneal mesothelioma	2	CL E G H
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1			7
HP:0002012	HP:0410042	Abnormal liver morphology	2	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease			191
HP:0002012	HP:0410042	Abnormal liver morphology	2	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease			191
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease			191
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease			191
HP:0002012	HP:0410042	Abnormal liver morphology	2	ABCB11 CL E G H	8647	42	OMIM:605479	Cholestasis, benign recurrent intrahepatic, 2			146
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ABCB11 CL E G H	8647	42	OMIM:605479	Cholestasis, benign recurrent intrahepatic, 2			146
HP:0002012	HP:0031865	Abnormal liver physiology	2	ABCB11 CL E G H	8647	42	OMIM:605479	Cholestasis, benign recurrent intrahepatic, 2			146
HP:0002012	HP:0410042	Abnormal liver morphology	2	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2			146
HP:0002012	HP:0002896	Neoplasm of the liver	2	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2			146
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2			146
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2			146
HP:0002012	HP:0031865	Abnormal liver physiology	2	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2			146
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy			146
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ABCB4 CL E G H	5244	45	OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3			111
HP:0002012	HP:0031865	Abnormal liver physiology	2	ABCB4 CL E G H	5244	45	OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3			111
HP:0002012	HP:0410042	Abnormal liver morphology	2	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3			111
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3			111
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3			111
HP:0002012	HP:0031865	Abnormal liver physiology	2	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3			111
HP:0002012	HP:0410042	Abnormal liver morphology	2	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1			111
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1			111
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1			111
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy			111
HP:0002012	HP:0410042	Abnormal liver morphology	2	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis			111
HP:0002012	HP:0002896	Neoplasm of the liver	2	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040283 - Occasional		111
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis			111
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis			111
HP:0002012	HP:0031865	Abnormal liver physiology	2	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis			111
HP:0002012	HP:0410042	Abnormal liver morphology	2	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome			119
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome			119
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ABCC2 CL E G H	1244	53	OMIM:237500	DUBIN-JOHNSON syndrome			119
HP:0002012	HP:0410042	Abnormal liver morphology	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0002012	HP:0410042	Abnormal liver morphology	2	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency			245
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency			245
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1			245
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0002012	HP:0002896	Neoplasm of the liver	2	ABCC8 CL E G H	6833	59	ORPHA:552	MODY			245
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	ABCC8 CL E G H	6833	59	ORPHA:552	MODY			245
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	ABCC8 CL E G H	6833	59	ORPHA:552	MODY			245
HP:0002012	HP:0410042	Abnormal liver morphology	2	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5			5
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5			5
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5			5
HP:0002012	HP:0410042	Abnormal liver morphology	2	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia			67
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ABCG8 CL E G H	64241	13887	OMIM:611465	GALLBLADDER DISEASE 4; GBD4			76
HP:0002012	HP:0410042	Abnormal liver morphology	2	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia			76
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1			76
HP:0002012	HP:0410042	Abnormal liver morphology	2	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome			90
HP:0002012	HP:0410042	Abnormal liver morphology	2	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ABL1 CL E G H	25	76	ORPHA:521	Chronic myeloid leukemia			51
HP:0002012	HP:0410042	Abnormal liver morphology	2	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency			98
HP:0002012	HP:0410042	Abnormal liver morphology	2	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency			98
HP:0002012	HP:0410042	Abnormal liver morphology	2	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of			197
HP:0002012	HP:0410042	Abnormal liver morphology	2	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0002012	HP:0410042	Abnormal liver morphology	2	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency			90
HP:0002012	HP:0410042	Abnormal liver morphology	2	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0002012	HP:0410042	Abnormal liver morphology	2	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0002012	HP:0410042	Abnormal liver morphology	2	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency			91
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	ACD CL E G H	65057	25070	ORPHA:618	Familial melanoma	HP:0040283 - Occasional		11
HP:0002012	HP:0410042	Abnormal liver morphology	2	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency			120
HP:0002012	HP:0410042	Abnormal liver morphology	2	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0002012	HP:0410042	Abnormal liver morphology	2	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia			16
HP:0002012	HP:0003363	Abdominal situs inversus	2	ACTG2 CL E G H	72	145	ORPHA:2604	Familial visceral myopathy	HP:0040283 - Occasional		23
HP:0002012	HP:0410042	Abnormal liver morphology	2	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5			23
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1			23
HP:0002012	HP:0002586	Peritonitis	2	ACTN4 CL E G H	81	166	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040284 - Very rare		27
HP:0002012	HP:0410042	Abnormal liver morphology	2	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal			161
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal			161
HP:0002012	HP:0410042	Abnormal liver morphology	2	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia			178
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia			178
HP:0002012	HP:0410042	Abnormal liver morphology	2	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2			178
HP:0002012	HP:0410042	Abnormal liver morphology	2	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome			75
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome			75
HP:0002012	HP:0410042	Abnormal liver morphology	2	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:0002012	HP:0025408	Abnormal spleen morphology	2	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:0002012	HP:0410042	Abnormal liver morphology	2	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary			129
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1			72
HP:0002012	HP:0410042	Abnormal liver morphology	2	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0002012	HP:0410042	Abnormal liver morphology	2	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0002012	HP:0410042	Abnormal liver morphology	2	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0002012	HP:0025408	Abnormal spleen morphology	2	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0002012	HP:0410042	Abnormal liver morphology	2	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA			76
HP:0002012	HP:0410042	Abnormal liver morphology	2	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria			76
HP:0002012	HP:0025408	Abnormal spleen morphology	2	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria			76
HP:0002012	HP:0410042	Abnormal liver morphology	2	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III			216
HP:0002012	HP:0410042	Abnormal liver morphology	2	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0002012	HP:0410042	Abnormal liver morphology	2	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0002012	HP:0025408	Abnormal spleen morphology	2	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0002012	HP:0002896	Neoplasm of the liver	2	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency			31
HP:0002012	HP:0410042	Abnormal liver morphology	2	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0002012	HP:0004297	Abnormality of the biliary system	2	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0002012	HP:0025408	Abnormal spleen morphology	2	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0002012	HP:0410042	Abnormal liver morphology	2	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2			62
HP:0002012	HP:0004297	Abnormality of the biliary system	2	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2			62
HP:0002012	HP:0025408	Abnormal spleen morphology	2	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2			62
HP:0002012	HP:0031865	Abnormal liver physiology	2	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2			62
HP:0002012	HP:0410042	Abnormal liver morphology	2	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2			62
HP:0002012	HP:0004297	Abnormality of the biliary system	2	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2			62
HP:0002012	HP:0025408	Abnormal spleen morphology	2	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome			54
HP:0002012	HP:0025408	Abnormal spleen morphology	2	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic			54
HP:0002012	HP:0410042	Abnormal liver morphology	2	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy			12
HP:0002012	HP:0410042	Abnormal liver morphology	2	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy			12
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ALAS2 CL E G H	212	397	OMIM:300752	Protoporphyria, erythropoietic, X-linked			72
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ALAS2 CL E G H	212	397	ORPHA:75563	X-linked sideroblastic anemia			72
HP:0002012	HP:0410042	Abnormal liver morphology	2	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0002012	HP:0410042	Abnormal liver morphology	2	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0002012	HP:0410042	Abnormal liver morphology	2	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary			73
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary			73
HP:0002012	HP:0410042	Abnormal liver morphology	2	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance			73
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance			73
HP:0002012	HP:0410042	Abnormal liver morphology	2	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik			58
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik			58
HP:0002012	HP:0410042	Abnormal liver morphology	2	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0002012	HP:0410042	Abnormal liver morphology	2	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG			46
HP:0002012	HP:0410042	Abnormal liver morphology	2	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii			46
HP:0002012	HP:0410042	Abnormal liver morphology	2	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG			66
HP:0002012	HP:0410042	Abnormal liver morphology	2	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0002012	HP:0410042	Abnormal liver morphology	2	ALG8 CL E G H	79053	23161	OMIM:617874	POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS; PCLD3			46
HP:0002012	HP:0410042	Abnormal liver morphology	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0002012	HP:0410042	Abnormal liver morphology	2	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease			93
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease			93
HP:0002012	HP:0410042	Abnormal liver morphology	2	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0002012	HP:0410042	Abnormal liver morphology	2	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0002012	HP:0410042	Abnormal liver morphology	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0002012	HP:0031865	Abnormal liver physiology	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent		404
HP:0002012	HP:0410042	Abnormal liver morphology	2	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ALPK1 CL E G H	80216	20917	OMIM:614979	Splenomegaly, cytopenia, and vision loss
HP:0002012	HP:0410042	Abnormal liver morphology	2	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4			44
HP:0002012	HP:0004297	Abnormality of the biliary system	2	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4			44
HP:0002012	HP:0031865	Abnormal liver physiology	2	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4			44
HP:0002012	HP:0410042	Abnormal liver morphology	2	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4			44
HP:0002012	HP:0004297	Abnormality of the biliary system	2	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4			44
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0002012	HP:0410042	Abnormal liver morphology	2	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis			150
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis			150
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis			150
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1			150
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1			150
HP:0002012	HP:0002586	Peritonitis	2	ANKFY1 CL E G H	51479	20763	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040284 - Very rare
HP:0002012	HP:0410042	Abnormal liver morphology	2	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0002012	HP:0410042	Abnormal liver morphology	2	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16			32
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16			32
HP:0002012	HP:0002586	Peritonitis	2	ANLN CL E G H	54443	14082	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040284 - Very rare		6
HP:0002012	HP:0410042	Abnormal liver morphology	2	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome			8
HP:0002012	HP:0410042	Abnormal liver morphology	2	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness
HP:0002012	HP:0004297	Abnormality of the biliary system	2	AP1B1 CL E G H	162	554	ORPHA:171851	MEDNIK syndrome
HP:0002012	HP:0031865	Abnormal liver physiology	2	AP1B1 CL E G H	162	554	ORPHA:171851	MEDNIK syndrome
HP:0002012	HP:0004297	Abnormality of the biliary system	2	AP1S1 CL E G H	1174	559	ORPHA:171851	MEDNIK syndrome			1
HP:0002012	HP:0031865	Abnormal liver physiology	2	AP1S1 CL E G H	1174	559	ORPHA:171851	MEDNIK syndrome			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma			1
HP:0002012	HP:0004297	Abnormality of the biliary system	2	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma			1
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III			6
HP:0002012	HP:0410042	Abnormal liver morphology	2	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0002012	HP:0025408	Abnormal spleen morphology	2	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0002012	HP:0410042	Abnormal liver morphology	2	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0002012	HP:0002896	Neoplasm of the liver	2	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	APC CL E G H	324	583	ORPHA:247806	APC-related attenuated familial adenomatous polyposis	HP:0040284 - Very rare		3179
HP:0002012	HP:0002896	Neoplasm of the liver	2	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion			3179
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040284 - Very rare		3179
HP:0002012	HP:0002896	Neoplasm of the liver	2	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome			3179
HP:0002012	HP:0410042	Abnormal liver morphology	2	APC CL E G H	324	583	OMIM:114550	Hepatocellular carcinoma			3179
HP:0002012	HP:0002896	Neoplasm of the liver	2	APC CL E G H	324	583	OMIM:114550	Hepatocellular carcinoma			3179
HP:0002012	HP:0002896	Neoplasm of the liver	2	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis			3179
HP:0002012	HP:0004297	Abnormality of the biliary system	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	APOA1 CL E G H	335	600	OMIM:105200	Amyloidosis, familial visceral			40
HP:0002012	HP:0004297	Abnormality of the biliary system	2	APOA1 CL E G H	335	600	OMIM:105200	Amyloidosis, familial visceral			40
HP:0002012	HP:0025408	Abnormal spleen morphology	2	APOA1 CL E G H	335	600	OMIM:105200	Amyloidosis, familial visceral			40
HP:0002012	HP:0410042	Abnormal liver morphology	2	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia			356
HP:0002012	HP:0410042	Abnormal liver morphology	2	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY			27
HP:0002012	HP:0025408	Abnormal spleen morphology	2	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY			27
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY			27
HP:0002012	HP:0410042	Abnormal liver morphology	2	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia			39
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia			39
HP:0002012	HP:0410042	Abnormal liver morphology	2	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease			39
HP:0002012	HP:0025408	Abnormal spleen morphology	2	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease			39
HP:0002012	HP:0410042	Abnormal liver morphology	2	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis			39
HP:0002012	HP:0025408	Abnormal spleen morphology	2	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis			39
HP:0002012	HP:0002586	Peritonitis	2	APOL1 CL E G H	8542	618	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040284 - Very rare		3
HP:0002012	HP:0002896	Neoplasm of the liver	2	APPL1 CL E G H	26060	24035	ORPHA:552	MODY			2
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	APPL1 CL E G H	26060	24035	ORPHA:552	MODY			2
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	APPL1 CL E G H	26060	24035	ORPHA:552	MODY			2
HP:0002012	HP:0410042	Abnormal liver morphology	2	ARG1 CL E G H	383	663	OMIM:207800	Argininemia			31
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ARG1 CL E G H	383	663	OMIM:207800	Argininemia			31
HP:0002012	HP:0002586	Peritonitis	2	ARHGAP24 CL E G H	83478	25361	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040284 - Very rare		4
HP:0002012	HP:0410042	Abnormal liver morphology	2	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0002012	HP:0002586	Peritonitis	2	ARHGDIA CL E G H	396	678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040284 - Very rare		3
HP:0002012	HP:0002896	Neoplasm of the liver	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0002012	HP:0002896	Neoplasm of the liver	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0002012	HP:0002896	Neoplasm of the liver	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0002012	HP:0410042	Abnormal liver morphology	2	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0002012	HP:0410042	Abnormal liver morphology	2	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome			29
HP:0002012	HP:0410042	Abnormal liver morphology	2	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0002012	HP:0410042	Abnormal liver morphology	2	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy			253
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0002012	HP:0410042	Abnormal liver morphology	2	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia			166
HP:0002012	HP:0410042	Abnormal liver morphology	2	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0002012	HP:0031865	Abnormal liver physiology	2	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0002012	HP:0410042	Abnormal liver morphology	2	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis			78
HP:0002012	HP:0410042	Abnormal liver morphology	2	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria			81
HP:0002012	HP:0410042	Abnormal liver morphology	2	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic			119
HP:0002012	HP:0410042	Abnormal liver morphology	2	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis			145
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis			145
HP:0002012	HP:0025409	Abnormal spleen physiology	2	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis			145
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0002012	HP:0410042	Abnormal liver morphology	2	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			145
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			145
HP:0002012	HP:0410042	Abnormal liver morphology	2	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ATM CL E G H	472	795	ORPHA:52416	Mantle cell lymphoma			3267
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ATP11C CL E G H	286410	13554	OMIM:301015	Hemolytic anemia, congenital, X-linked			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0410042	Abnormal liver morphology	2	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0002012	HP:0410042	Abnormal liver morphology	2	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R			36
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R			36
HP:0002012	HP:0410042	Abnormal liver morphology	2	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome			5
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease			192
HP:0002012	HP:0410042	Abnormal liver morphology	2	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome			192
HP:0002012	HP:0410042	Abnormal liver morphology	2	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease			315
HP:0002012	HP:0410042	Abnormal liver morphology	2	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0002012	HP:0002896	Neoplasm of the liver	2	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease			315
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease			315
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0002012	HP:0410042	Abnormal liver morphology	2	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1			144
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1			144
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1			144
HP:0002012	HP:0031865	Abnormal liver physiology	2	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1			144
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ATP8B1 CL E G H	5205	3706	OMIM:147480	Cholestasis, intrahepatic, of pregnancy, 1			144
HP:0002012	HP:0031865	Abnormal liver physiology	2	ATP8B1 CL E G H	5205	3706	OMIM:147480	Cholestasis, intrahepatic, of pregnancy, 1			144
HP:0002012	HP:0410042	Abnormal liver morphology	2	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0002012	HP:0031865	Abnormal liver physiology	2	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy			144
HP:0002012	HP:0410042	Abnormal liver morphology	2	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1			32
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome			169
HP:0002012	HP:0410042	Abnormal liver morphology	2	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach			169
HP:0002012	HP:0410042	Abnormal liver morphology	2	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1			49
HP:0002012	HP:0410042	Abnormal liver morphology	2	AXIN1 CL E G H	8312	903	OMIM:114550	Hepatocellular carcinoma			3
HP:0002012	HP:0002896	Neoplasm of the liver	2	AXIN1 CL E G H	8312	903	OMIM:114550	Hepatocellular carcinoma			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	B2M CL E G H	567	914	OMIM:105200	Amyloidosis, familial visceral			8
HP:0002012	HP:0004297	Abnormality of the biliary system	2	B2M CL E G H	567	914	OMIM:105200	Amyloidosis, familial visceral			8
HP:0002012	HP:0025408	Abnormal spleen morphology	2	B2M CL E G H	567	914	OMIM:105200	Amyloidosis, familial visceral			8
HP:0002012	HP:0410042	Abnormal liver morphology	2	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis			8
HP:0002012	HP:0004297	Abnormality of the biliary system	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0002012	HP:0410042	Abnormal liver morphology	2	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0002012	HP:0025408	Abnormal spleen morphology	2	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0002012	HP:0410042	Abnormal liver morphology	2	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome			28
HP:0002012	HP:0025408	Abnormal spleen morphology	2	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome			28
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome			28
HP:0002012	HP:0410042	Abnormal liver morphology	2	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome			34
HP:0002012	HP:0025408	Abnormal spleen morphology	2	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome			34
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome			34
HP:0002012	HP:0004297	Abnormality of the biliary system	2	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10			34
HP:0002012	HP:0410042	Abnormal liver morphology	2	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1			63
HP:0002012	HP:0004297	Abnormality of the biliary system	2	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1			63
HP:0002012	HP:0025408	Abnormal spleen morphology	2	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	BAP1 CL E G H	8314	950	ORPHA:618	Familial melanoma	HP:0040283 - Occasional		184
HP:0002012	HP:0410042	Abnormal liver morphology	2	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma			184
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	BARD1 CL E G H	580	952	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional		790
HP:0002012	HP:0004297	Abnormality of the biliary system	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0002012	HP:0410042	Abnormal liver morphology	2	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome			114
HP:0002012	HP:0410042	Abnormal liver morphology	2	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0002012	HP:0004297	Abnormality of the biliary system	2	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0002012	HP:0410042	Abnormal liver morphology	2	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome			118
HP:0002012	HP:0410042	Abnormal liver morphology	2	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome			71
HP:0002012	HP:0410042	Abnormal liver morphology	2	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome			97
HP:0002012	HP:0410042	Abnormal liver morphology	2	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome			87
HP:0002012	HP:0410042	Abnormal liver morphology	2	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome			25
HP:0002012	HP:0410042	Abnormal liver morphology	2	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome			66
HP:0002012	HP:0410042	Abnormal liver morphology	2	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome			119
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease			120
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease			162
HP:0002012	HP:0025408	Abnormal spleen morphology	2	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			11
HP:0002012	HP:0025408	Abnormal spleen morphology	2	BCL2 CL E G H	596	990	ORPHA:545	Follicular lymphoma			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	BCL6 CL E G H	604	1001	ORPHA:545	Follicular lymphoma			1
HP:0002012	HP:0004297	Abnormality of the biliary system	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0002012	HP:0025408	Abnormal spleen morphology	2	BCR CL E G H	613	1014	ORPHA:521	Chronic myeloid leukemia			5
HP:0002012	HP:0410042	Abnormal liver morphology	2	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome			72
HP:0002012	HP:0004297	Abnormality of the biliary system	2	BCS1L CL E G H	617	1020	OMIM:603358	GRACILE SYNDROME			72
HP:0002012	HP:0004297	Abnormality of the biliary system	2	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome			72
HP:0002012	HP:0410042	Abnormal liver morphology	2	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0002012	HP:0004297	Abnormality of the biliary system	2	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0002012	HP:0410042	Abnormal liver morphology	2	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease			5
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease			5
HP:0002012	HP:0002896	Neoplasm of the liver	2	BLK CL E G H	640	1057	ORPHA:552	MODY			75
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	BLK CL E G H	640	1057	ORPHA:552	MODY			75
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	BLK CL E G H	640	1057	ORPHA:552	MODY			75
HP:0002012	HP:0410042	Abnormal liver morphology	2	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0002012	HP:0410042	Abnormal liver morphology	2	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia			4
HP:0002012	HP:0004297	Abnormality of the biliary system	2	BLVRA CL E G H	644	1062	OMIM:614156	Hyperbiliverdinemia			2
HP:0002012	HP:0410042	Abnormal liver morphology	2	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1			13
HP:0002012	HP:0002896	Neoplasm of the liver	2	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1			13
HP:0002012	HP:0025408	Abnormal spleen morphology	2	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1			13
HP:0002012	HP:0410042	Abnormal liver morphology	2	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0002012	HP:0002896	Neoplasm of the liver	2	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0002012	HP:0004297	Abnormality of the biliary system	2	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0002012	HP:0410042	Abnormal liver morphology	2	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		385
HP:0002012	HP:0002896	Neoplasm of the liver	2	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X			385
HP:0002012	HP:0410042	Abnormal liver morphology	2	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia			14
HP:0002012	HP:0025408	Abnormal spleen morphology	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0002012	HP:0004297	Abnormality of the biliary system	2	BRCA1 CL E G H	672	1100	ORPHA:70567	Cholangiocarcinoma			5769
HP:0002012	HP:0410042	Abnormal liver morphology	2	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma			5769
HP:0002012	HP:0100592	Peritoneal abscess	2	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		5769
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma			5769
HP:0002012	HP:0002896	Neoplasm of the liver	2	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		5769
HP:0002012	HP:0004297	Abnormality of the biliary system	2	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma			5769
HP:0002012	HP:0025408	Abnormal spleen morphology	2	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma			5769
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma			5769
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	BRCA1 CL E G H	672	1100	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional		5769
HP:0002012	HP:0002586	Peritonitis	2	BRCA1 CL E G H	672	1100	ORPHA:168829	Primary peritoneal carcinoma	HP:0040281 - Very frequent		5769
HP:0002012	HP:0004297	Abnormality of the biliary system	2	BRCA2 CL E G H	675	1101	ORPHA:70567	Cholangiocarcinoma			7642
HP:0002012	HP:0410042	Abnormal liver morphology	2	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma			7642
HP:0002012	HP:0100592	Peritoneal abscess	2	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		7642
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma			7642
HP:0002012	HP:0002896	Neoplasm of the liver	2	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		7642
HP:0002012	HP:0004297	Abnormality of the biliary system	2	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma			7642
HP:0002012	HP:0025408	Abnormal spleen morphology	2	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma			7642
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma			7642
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	BRCA2 CL E G H	675	1101	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional		7642
HP:0002012	HP:0002896	Neoplasm of the liver	2	BRCA2 CL E G H	675	1101	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		7642
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	BRCA2 CL E G H	675	1101	OMIM:613347	Pancreatic cancer, susceptibility to, 2	.		7642
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	BRD4 CL E G H	23476	13575	ORPHA:443167	NUT midline carcinoma
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	BRIP1 CL E G H	83990	20473	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional		1086
HP:0002012	HP:0410042	Abnormal liver morphology	2	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0002012	HP:0410042	Abnormal liver morphology	2	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy			105
HP:0002012	HP:0410042	Abnormal liver morphology	2	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0002012	HP:0025408	Abnormal spleen morphology	2	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0002012	HP:0410042	Abnormal liver morphology	2	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy			105
HP:0002012	HP:0410042	Abnormal liver morphology	2	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset			223
HP:0002012	HP:0025408	Abnormal spleen morphology	2	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset			223
HP:0002012	HP:0410042	Abnormal liver morphology	2	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked			109
HP:0002012	HP:0002896	Neoplasm of the liver	2	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked			109
HP:0002012	HP:0410042	Abnormal liver morphology	2	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia			109
HP:0002012	HP:0410042	Abnormal liver morphology	2	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia			109
HP:0002012	HP:0410042	Abnormal liver morphology	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2			1
HP:0002012	HP:0004297	Abnormality of the biliary system	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0002012	HP:0410042	Abnormal liver morphology	2	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0002012	HP:0410042	Abnormal liver morphology	2	C1S CL E G H	716	1247	OMIM:613783	Complement component c1s deficiency			7
HP:0002012	HP:0410042	Abnormal liver morphology	2	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0002012	HP:0025408	Abnormal spleen morphology	2	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0002012	HP:0410042	Abnormal liver morphology	2	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3			29
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3			29
HP:0002012	HP:0410042	Abnormal liver morphology	2	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome			1
HP:0002012	HP:0002586	Peritonitis	2	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional		1
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CALR CL E G H	811	1455	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CALR CL E G H	811	1455	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA			45
HP:0002012	HP:0410042	Abnormal liver morphology	2	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27			35
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			118
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			118
HP:0002012	HP:0410042	Abnormal liver morphology	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome			87
HP:0002012	HP:0002896	Neoplasm of the liver	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome			87
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome			87
HP:0002012	HP:0025409	Abnormal spleen physiology	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome			87
HP:0002012	HP:0410042	Abnormal liver morphology	2	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA			87
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA			87
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY			37
HP:0002012	HP:0410042	Abnormal liver morphology	2	CASP8 CL E G H	841	1509	OMIM:114550	Hepatocellular carcinoma			37
HP:0002012	HP:0002896	Neoplasm of the liver	2	CASP8 CL E G H	841	1509	OMIM:114550	Hepatocellular carcinoma			37
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis			272
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis			272
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis			272
HP:0002012	HP:0410042	Abnormal liver morphology	2	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe			272
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe			272
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CASR CL E G H	846	1514	OMIM:145980	Hypocalciuric hypercalcemia, familial, type I			272
HP:0002012	HP:0410042	Abnormal liver morphology	2	CASR CL E G H	846	1514	ORPHA:417	Neonatal severe primary hyperparathyroidism			272
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CASR CL E G H	846	1514	ORPHA:417	Neonatal severe primary hyperparathyroidism			272
HP:0002012	HP:0410042	Abnormal liver morphology	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0002012	HP:0410042	Abnormal liver morphology	2	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3			11
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3			11
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0002012	HP:0410042	Abnormal liver morphology	2	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0002012	HP:0410042	Abnormal liver morphology	2	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4			48
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4			48
HP:0002012	HP:0410042	Abnormal liver morphology	2	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis			317
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis			317
HP:0002012	HP:0025409	Abnormal spleen physiology	2	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis			317
HP:0002012	HP:0410042	Abnormal liver morphology	2	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0002012	HP:0410042	Abnormal liver morphology	2	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria			242
HP:0002012	HP:0410042	Abnormal liver morphology	2	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0002012	HP:0410042	Abnormal liver morphology	2	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2			247
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2			247
HP:0002012	HP:0410042	Abnormal liver morphology	2	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0002012	HP:0410042	Abnormal liver morphology	2	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0002012	HP:0002896	Neoplasm of the liver	2	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		247
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0002012	HP:0410042	Abnormal liver morphology	2	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome			247
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome			247
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome			247
HP:0002012	HP:0410042	Abnormal liver morphology	2	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6			247
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6			247
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0002012	HP:0410042	Abnormal liver morphology	2	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO			3
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO			3
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0002012	HP:0003363	Abdominal situs inversus	2	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14			126
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0002012	HP:0410042	Abnormal liver morphology	2	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CCND1 CL E G H	595	1582	ORPHA:52416	Mantle cell lymphoma			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma			1
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040284 - Very rare		1
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome	.		1
HP:0002012	HP:0002896	Neoplasm of the liver	2	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome			1
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency			38
HP:0002012	HP:0410042	Abnormal liver morphology	2	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2			38
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2			38
HP:0002012	HP:0410042	Abnormal liver morphology	2	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			8
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			8
HP:0002012	HP:0410042	Abnormal liver morphology	2	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			8
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			8
HP:0002012	HP:0410042	Abnormal liver morphology	2	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2			4
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2			4
HP:0002012	HP:0410042	Abnormal liver morphology	2	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides
HP:0002012	HP:0410042	Abnormal liver morphology	2	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome
HP:0002012	HP:0002586	Peritonitis	2	CD2AP CL E G H	23607	14258	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040284 - Very rare		105
HP:0002012	HP:0410042	Abnormal liver morphology	2	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			18
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			18
HP:0002012	HP:0410042	Abnormal liver morphology	2	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			24
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			24
HP:0002012	HP:0410042	Abnormal liver morphology	2	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0002012	HP:0410042	Abnormal liver morphology	2	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy			9
HP:0002012	HP:0410042	Abnormal liver morphology	2	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0002012	HP:0410042	Abnormal liver morphology	2	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia			9
HP:0002012	HP:0410042	Abnormal liver morphology	2	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia			6
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome			83
HP:0002012	HP:0410042	Abnormal liver morphology	2	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia			86
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia			86
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia			86
HP:0002012	HP:0002586	Peritonitis	2	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2			169
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2			169
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome			169
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome			169
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma			169
HP:0002012	HP:0410042	Abnormal liver morphology	2	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	CDK4 CL E G H	1019	1773	ORPHA:618	Familial melanoma	HP:0040283 - Occasional		145
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		2
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		102
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent		102
HP:0002012	HP:0410042	Abnormal liver morphology	2	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0002012	HP:0002896	Neoplasm of the liver	2	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	CDKN2A CL E G H	1029	1787	ORPHA:618	Familial melanoma	HP:0040283 - Occasional		289
HP:0002012	HP:0410042	Abnormal liver morphology	2	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma			289
HP:0002012	HP:0100592	Peritoneal abscess	2	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		289
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma			289
HP:0002012	HP:0002896	Neoplasm of the liver	2	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		289
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma			289
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma			289
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma			289
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare		289
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	CDKN2A CL E G H	1029	1787	OMIM:606719	Melanoma-Pancreatic cancer syndrome			289
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	CDKN2B CL E G H	1030	1788	ORPHA:618	Familial melanoma	HP:0040283 - Occasional		1
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		1
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11			200
HP:0002012	HP:0410042	Abnormal liver morphology	2	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0410042	Abnormal liver morphology	2	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CEL CL E G H	1056	1848	OMIM:609812	Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction			25
HP:0002012	HP:0002896	Neoplasm of the liver	2	CEL CL E G H	1056	1848	ORPHA:552	MODY			25
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	CEL CL E G H	1056	1848	ORPHA:552	MODY			25
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CEL CL E G H	1056	1848	ORPHA:552	MODY			25
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome			27
HP:0002012	HP:0410042	Abnormal liver morphology	2	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome			34
HP:0002012	HP:0410042	Abnormal liver morphology	2	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome			342
HP:0002012	HP:0410042	Abnormal liver morphology	2	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome			342
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome			342
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome			342
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4			342
HP:0002012	HP:0410042	Abnormal liver morphology	2	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome			342
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CEP83 CL E G H	51134	17966	OMIM:615862	Nephronophthisis 18			10
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial
HP:0002012	HP:0410042	Abnormal liver morphology	2	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0002012	HP:0003363	Abdominal situs inversus	2	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0002012	HP:0003363	Abdominal situs inversus	2	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal	.		17
HP:0002012	HP:0002586	Peritonitis	2	CFB CL E G H	629	1037	OMIM:615561	COMPLEMENT FACTOR B DEFICIENCY; CFBD			30
HP:0002012	HP:0003363	Abdominal situs inversus	2	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal	.		13
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal			13
HP:0002012	HP:0410042	Abnormal liver morphology	2	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0002012	HP:0410042	Abnormal liver morphology	2	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis			1371
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis			1371
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis			1371
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary			1371
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary			1371
HP:0002012	HP:0410042	Abnormal liver morphology	2	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome			515
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome			515
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	CHEK2 CL E G H	11200	16627	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional		833
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare		833
HP:0002012	HP:0410042	Abnormal liver morphology	2	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy			8
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy			8
HP:0002012	HP:0410042	Abnormal liver morphology	2	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5			8
HP:0002012	HP:0410042	Abnormal liver morphology	2	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II			118
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II			118
HP:0002012	HP:0410042	Abnormal liver morphology	2	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II			118
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II			118
HP:0002012	HP:0031565	Abdominal situs ambiguus	2	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0002012	HP:0410042	Abnormal liver morphology	2	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0410042	Abnormal liver morphology	2	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0002012	HP:0410042	Abnormal liver morphology	2	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0002012	HP:0410042	Abnormal liver morphology	2	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis			102
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis			102
HP:0002012	HP:0410042	Abnormal liver morphology	2	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4			102
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4			102
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		27
HP:0002012	HP:0410042	Abnormal liver morphology	2	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis			11
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis			11
HP:0002012	HP:0410042	Abnormal liver morphology	2	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome			11
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome			11
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome			11
HP:0002012	HP:0410042	Abnormal liver morphology	2	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis			3
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0002012	HP:0410042	Abnormal liver morphology	2	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7			38
HP:0002012	HP:0410042	Abnormal liver morphology	2	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CLPB CL E G H	81570	30664	OMIM:619813	NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; SCN9			38
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome			2
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome			2
HP:0002012	HP:0410042	Abnormal liver morphology	2	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0002012	HP:0410042	Abnormal liver morphology	2	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0002012	HP:0410042	Abnormal liver morphology	2	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0002012	HP:0025408	Abnormal spleen morphology	2	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0002012	HP:0410042	Abnormal liver morphology	2	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG			67
HP:0002012	HP:0025408	Abnormal spleen morphology	2	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG			67
HP:0002012	HP:0410042	Abnormal liver morphology	2	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj			67
HP:0002012	HP:0025408	Abnormal spleen morphology	2	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj			67
HP:0002012	HP:0410042	Abnormal liver morphology	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0002012	HP:0025408	Abnormal spleen morphology	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0002012	HP:0410042	Abnormal liver morphology	2	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0002012	HP:0004297	Abnormality of the biliary system	2	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0002012	HP:0025408	Abnormal spleen morphology	2	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0002012	HP:0410042	Abnormal liver morphology	2	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome			71
HP:0002012	HP:0410042	Abnormal liver morphology	2	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0002012	HP:0004297	Abnormality of the biliary system	2	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0002012	HP:0025408	Abnormal spleen morphology	2	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0002012	HP:0410042	Abnormal liver morphology	2	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0002012	HP:0004297	Abnormality of the biliary system	2	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0002012	HP:0025408	Abnormal spleen morphology	2	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0002012	HP:0410042	Abnormal liver morphology	2	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1			2
HP:0002012	HP:0002586	Peritonitis	2	COL4A3 CL E G H	1285	2204	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040284 - Very rare		161
HP:0002012	HP:0004297	Abnormality of the biliary system	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0002012	HP:0025408	Abnormal spleen morphology	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0002012	HP:0002586	Peritonitis	2	COQ8B CL E G H	79934	19041	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040284 - Very rare		35
HP:0002012	HP:0410042	Abnormal liver morphology	2	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia			5
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0002012	HP:0025408	Abnormal spleen morphology	2	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0002012	HP:0410042	Abnormal liver morphology	2	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10			4
HP:0002012	HP:0410042	Abnormal liver morphology	2	COX15 CL E G H	1355	2263	OMIM:615119	Mitochondrial complex IV deficiency, nuclear type 6			104
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0002012	HP:0410042	Abnormal liver morphology	2	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis			13
HP:0002012	HP:0004297	Abnormality of the biliary system	2	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis			13
HP:0002012	HP:0025408	Abnormal spleen morphology	2	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis			13
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis			13
HP:0002012	HP:0410042	Abnormal liver morphology	2	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0002012	HP:0410042	Abnormal liver morphology	2	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia			115
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040283 - Occasional		115
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis			5
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis			5
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis			5
HP:0002012	HP:0003363	Abdominal situs inversus	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		1
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria			72
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria			72
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria			72
HP:0002012	HP:0410042	Abnormal liver morphology	2	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria			72
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria			72
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria			72
HP:0002012	HP:0002896	Neoplasm of the liver	2	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria			72
HP:0002012	HP:0410042	Abnormal liver morphology	2	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency			99
HP:0002012	HP:0410042	Abnormal liver morphology	2	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency			99
HP:0002012	HP:0410042	Abnormal liver morphology	2	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form			101
HP:0002012	HP:0410042	Abnormal liver morphology	2	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form			101
HP:0002012	HP:0410042	Abnormal liver morphology	2	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile			101
HP:0002012	HP:0410042	Abnormal liver morphology	2	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency			10
HP:0002012	HP:0410042	Abnormal liver morphology	2	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2			10
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2			10
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7			10
HP:0002012	HP:0002586	Peritonitis	2	CRB2 CL E G H	286204	18688	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040284 - Very rare		12
HP:0002012	HP:0002896	Neoplasm of the liver	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0002012	HP:0410042	Abnormal liver morphology	2	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary			34
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary			34
HP:0002012	HP:0410042	Abnormal liver morphology	2	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome			57
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome			57
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome			57
HP:0002012	HP:0003363	Abdominal situs inversus	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		2
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0002012	HP:0410042	Abnormal liver morphology	2	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		160
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita			160
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0002012	HP:0410042	Abnormal liver morphology	2	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5			10
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5			10
HP:0002012	HP:0410042	Abnormal liver morphology	2	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides			10
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides			10
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis			10
HP:0002012	HP:0410042	Abnormal liver morphology	2	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome			10
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome			10
HP:0002012	HP:0410042	Abnormal liver morphology	2	CTNNB1 CL E G H	1499	2514	OMIM:114550	Hepatocellular carcinoma			88
HP:0002012	HP:0002896	Neoplasm of the liver	2	CTNNB1 CL E G H	1499	2514	OMIM:114550	Hepatocellular carcinoma			88
HP:0002012	HP:0410042	Abnormal liver morphology	2	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma			88
HP:0002012	HP:0410042	Abnormal liver morphology	2	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis			39
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis			39
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis			39
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary			39
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary			39
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0002012	HP:0410042	Abnormal liver morphology	2	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0002012	HP:0410042	Abnormal liver morphology	2	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome			50
HP:0002012	HP:0410042	Abnormal liver morphology	2	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0002012	HP:0410042	Abnormal liver morphology	2	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease			27
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease			27
HP:0002012	HP:0410042	Abnormal liver morphology	2	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE			27
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE			27
HP:0002012	HP:0410042	Abnormal liver morphology	2	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease			111
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease			111
HP:0002012	HP:0410042	Abnormal liver morphology	2	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked			111
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked			111
HP:0002012	HP:0410042	Abnormal liver morphology	2	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease
HP:0002012	HP:0410042	Abnormal liver morphology	2	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0002012	HP:0410042	Abnormal liver morphology	2	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0002012	HP:0410042	Abnormal liver morphology	2	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency			11
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency			11
HP:0002012	HP:0410042	Abnormal liver morphology	2	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3			57
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3			57
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3			57
HP:0002012	HP:0031865	Abnormal liver physiology	2	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3			57
HP:0002012	HP:0410042	Abnormal liver morphology	2	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3			57
HP:0002012	HP:0004297	Abnormality of the biliary system	2	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3			57
HP:0002012	HP:0025408	Abnormal spleen morphology	2	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3			57
HP:0002012	HP:0410042	Abnormal liver morphology	2	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy
HP:0002012	HP:0002586	Peritonitis	2	DAAM2 CL E G H	23500	18143	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040284 - Very rare
HP:0002012	HP:0410042	Abnormal liver morphology	2	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease			156
HP:0002012	HP:0410042	Abnormal liver morphology	2	DCDC2 CL E G H	51473	18141	OMIM:616217	Nephronophthisis 19			8
HP:0002012	HP:0004297	Abnormality of the biliary system	2	DCDC2 CL E G H	51473	18141	OMIM:616217	Nephronophthisis 19			8
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DCDC2 CL E G H	51473	18141	OMIM:616217	Nephronophthisis 19			8
HP:0002012	HP:0410042	Abnormal liver morphology	2	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal			8
HP:0002012	HP:0004297	Abnormality of the biliary system	2	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal			8
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal			8
HP:0002012	HP:0410042	Abnormal liver morphology	2	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0002012	HP:0004297	Abnormality of the biliary system	2	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0002012	HP:0410042	Abnormal liver morphology	2	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome			94
HP:0002012	HP:0410042	Abnormal liver morphology	2	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome			94
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome			94
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome			94
HP:0002012	HP:0410042	Abnormal liver morphology	2	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation			94
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation			94
HP:0002012	HP:0410042	Abnormal liver morphology	2	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0410042	Abnormal liver morphology	2	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG			62
HP:0002012	HP:0410042	Abnormal liver morphology	2	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0002012	HP:0410042	Abnormal liver morphology	2	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0002012	HP:0410042	Abnormal liver morphology	2	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002012	HP:0004297	Abnormality of the biliary system	2	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002012	HP:0410042	Abnormal liver morphology	2	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)			57
HP:0002012	HP:0004297	Abnormality of the biliary system	2	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)			57
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)			57
HP:0002012	HP:0410042	Abnormal liver morphology	2	DGUOK CL E G H	1716	2858	OMIM:617068	Portal hypertension, noncirrhotic			57
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DGUOK CL E G H	1716	2858	OMIM:617068	Portal hypertension, noncirrhotic			57
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis			72
HP:0002012	HP:0410042	Abnormal liver morphology	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0002012	HP:0004297	Abnormality of the biliary system	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0002012	HP:0004297	Abnormality of the biliary system	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0002012	HP:0410042	Abnormal liver morphology	2	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59			47
HP:0002012	HP:0410042	Abnormal liver morphology	2	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency			7
HP:0002012	HP:0004297	Abnormality of the biliary system	2	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency			7
HP:0002012	HP:0002896	Neoplasm of the liver	2	DIS3L2 CL E G H	129563	28648	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		164
HP:0002012	HP:0410042	Abnormal liver morphology	2	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome			164
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040282 - Frequent		164
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome			164
HP:0002012	HP:0410042	Abnormal liver morphology	2	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		65
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita			65
HP:0002012	HP:0410042	Abnormal liver morphology	2	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked			65
HP:0002012	HP:0410042	Abnormal liver morphology	2	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency			89
HP:0002012	HP:0410042	Abnormal liver morphology	2	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency			89
HP:0002012	HP:0410042	Abnormal liver morphology	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002012	HP:0002896	Neoplasm of the liver	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0002012	HP:0410042	Abnormal liver morphology	2	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6			9
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6			9
HP:0002012	HP:0004297	Abnormality of the biliary system	2	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1			152
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1			73
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0002012	HP:0410042	Abnormal liver morphology	2	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0002012	HP:0410042	Abnormal liver morphology	2	DNAJB11 CL E G H	51726	14889	OMIM:618061	Polycystic kidney disease 6 with or without polycystic liver disease
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0002012	HP:0410042	Abnormal liver morphology	2	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V			25
HP:0002012	HP:0410042	Abnormal liver morphology	2	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0002012	HP:0410042	Abnormal liver morphology	2	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome			5
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome			5
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome			5
HP:0002012	HP:0410042	Abnormal liver morphology	2	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1			5
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1			5
HP:0002012	HP:0004297	Abnormality of the biliary system	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0002012	HP:0410042	Abnormal liver morphology	2	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis			3
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0002012	HP:0004297	Abnormality of the biliary system	2	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0002012	HP:0410042	Abnormal liver morphology	2	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40			6
HP:0002012	HP:0410042	Abnormal liver morphology	2	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0002012	HP:0004297	Abnormality of the biliary system	2	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij			38
HP:0002012	HP:0410042	Abnormal liver morphology	2	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0002012	HP:0002896	Neoplasm of the liver	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0002012	HP:0410042	Abnormal liver morphology	2	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE			27
HP:0002012	HP:0410042	Abnormal liver morphology	2	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0002012	HP:0410042	Abnormal liver morphology	2	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0002012	HP:0004297	Abnormality of the biliary system	2	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis			121
HP:0002012	HP:0004297	Abnormality of the biliary system	2	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism			121
HP:0002012	HP:0004297	Abnormality of the biliary system	2	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis			11
HP:0002012	HP:0410042	Abnormal liver morphology	2	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			304
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI
HP:0002012	HP:0410042	Abnormal liver morphology	2	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0002012	HP:0410042	Abnormal liver morphology	2	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0002012	HP:0410042	Abnormal liver morphology	2	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0002012	HP:0410042	Abnormal liver morphology	2	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0002012	HP:0002896	Neoplasm of the liver	2	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0002012	HP:0004297	Abnormality of the biliary system	2	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0002012	HP:0025409	Abnormal spleen physiology	2	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0002012	HP:0410042	Abnormal liver morphology	2	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5			4
HP:0002012	HP:0025408	Abnormal spleen morphology	2	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5			4
HP:0002012	HP:0410042	Abnormal liver morphology	2	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12			80
HP:0002012	HP:0004297	Abnormality of the biliary system	2	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12			80
HP:0002012	HP:0410042	Abnormal liver morphology	2	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome			1
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome			1
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2			1
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2			1
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0002012	HP:0410042	Abnormal liver morphology	2	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0002012	HP:0004297	Abnormality of the biliary system	2	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0002012	HP:0004297	Abnormality of the biliary system	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0002012	HP:0002586	Peritonitis	2	ELANE CL E G H	1991	3309	ORPHA:2686	Cyclic neutropenia	HP:0040284 - Very rare		79
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0002012	HP:0410042	Abnormal liver morphology	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0002012	HP:0002586	Peritonitis	2	EMP2 CL E G H	2013	3334	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040284 - Very rare		4
HP:0002012	HP:0410042	Abnormal liver morphology	2	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia			186
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia			186
HP:0002012	HP:0410042	Abnormal liver morphology	2	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1			186
HP:0002012	HP:0410042	Abnormal liver morphology	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0002012	HP:0410042	Abnormal liver morphology	2	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0002012	HP:0002896	Neoplasm of the liver	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0002012	HP:0025408	Abnormal spleen morphology	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0002012	HP:0004297	Abnormality of the biliary system	2	EPB41 CL E G H	2035	3377	OMIM:611804	Elliptocytosis 1			6
HP:0002012	HP:0025408	Abnormal spleen morphology	2	EPB41 CL E G H	2035	3377	OMIM:611804	Elliptocytosis 1			6
HP:0002012	HP:0004297	Abnormality of the biliary system	2	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis			6
HP:0002012	HP:0025408	Abnormal spleen morphology	2	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis			6
HP:0002012	HP:0410042	Abnormal liver morphology	2	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis			51
HP:0002012	HP:0004297	Abnormality of the biliary system	2	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis			51
HP:0002012	HP:0025408	Abnormal spleen morphology	2	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis			51
HP:0002012	HP:0004297	Abnormality of the biliary system	2	EPB42 CL E G H	2038	3381	OMIM:612690	SPHEROCYTOSIS, TYPE 5; SPH5			51
HP:0002012	HP:0025408	Abnormal spleen morphology	2	EPB42 CL E G H	2038	3381	OMIM:612690	SPHEROCYTOSIS, TYPE 5; SPH5			51
HP:0002012	HP:0004297	Abnormality of the biliary system	2	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy			170
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		170
HP:0002012	HP:0002896	Neoplasm of the liver	2	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome			170
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	ERBB3 CL E G H	2065	3431	OMIM:133180	Erythroleukemia, familial, susceptibility to			12
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ERBB3 CL E G H	2065	3431	OMIM:133180	Erythroleukemia, familial, susceptibility to			12
HP:0002012	HP:0410042	Abnormal liver morphology	2	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2			20
HP:0002012	HP:0410042	Abnormal liver morphology	2	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1			158
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q			158
HP:0002012	HP:0410042	Abnormal liver morphology	2	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1			199
HP:0002012	HP:0410042	Abnormal liver morphology	2	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2			199
HP:0002012	HP:0410042	Abnormal liver morphology	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0002012	HP:0410042	Abnormal liver morphology	2	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0002012	HP:0410042	Abnormal liver morphology	2	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0002012	HP:0410042	Abnormal liver morphology	2	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1			55
HP:0002012	HP:0410042	Abnormal liver morphology	2	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2			55
HP:0002012	HP:0410042	Abnormal liver morphology	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0002012	HP:0410042	Abnormal liver morphology	2	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			37
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			37
HP:0002012	HP:0410042	Abnormal liver morphology	2	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			27
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			27
HP:0002012	HP:0410042	Abnormal liver morphology	2	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			77
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			77
HP:0002012	HP:0410042	Abnormal liver morphology	2	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040283 - Occasional
HP:0002012	HP:0025408	Abnormal spleen morphology	2	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0002012	HP:0011854	Hemoperitoneum	2	F10 CL E G H	2159	3528	ORPHA:328	Congenital factor X deficiency	HP:0040284 - Very rare		33
HP:0002012	HP:0410042	Abnormal liver morphology	2	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome			159
HP:0002012	HP:0410042	Abnormal liver morphology	2	F5 CL E G H	2153	3542	OMIM:600880	Budd-Chiari syndrome			159
HP:0002012	HP:0002586	Peritonitis	2	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional		159
HP:0002012	HP:0002896	Neoplasm of the liver	2	F5 CL E G H	2153	3542	OMIM:600880	Budd-Chiari syndrome			159
HP:0002012	HP:0004297	Abnormality of the biliary system	2	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome			159
HP:0002012	HP:0025408	Abnormal spleen morphology	2	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome			159
HP:0002012	HP:0410042	Abnormal liver morphology	2	FADD CL E G H	8772	3573	ORPHA:306550	FADD-related immunodeficiency			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS			3
HP:0002012	HP:0004297	Abnormality of the biliary system	2	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	FAH CL E G H	2184	3579	ORPHA:882	Tyrosinemia type 1			107
HP:0002012	HP:0002896	Neoplasm of the liver	2	FAH CL E G H	2184	3579	ORPHA:882	Tyrosinemia type 1			107
HP:0002012	HP:0025408	Abnormal spleen morphology	2	FAH CL E G H	2184	3579	ORPHA:882	Tyrosinemia type 1			107
HP:0002012	HP:0410042	Abnormal liver morphology	2	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0002012	HP:0002896	Neoplasm of the liver	2	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0002012	HP:0025408	Abnormal spleen morphology	2	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0002012	HP:0025408	Abnormal spleen morphology	2	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia			8
HP:0002012	HP:0410042	Abnormal liver morphology	2	FAM111B CL E G H	374393	24200	OMIM:615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis			6
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		15
HP:0002012	HP:0002896	Neoplasm of the liver	2	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome			15
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0002012	HP:0410042	Abnormal liver morphology	2	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14			36
HP:0002012	HP:0410042	Abnormal liver morphology	2	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0002012	HP:0025408	Abnormal spleen morphology	2	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0002012	HP:0410042	Abnormal liver morphology	2	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002012	HP:0004297	Abnormality of the biliary system	2	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002012	HP:0410042	Abnormal liver morphology	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome			59
HP:0002012	HP:0410042	Abnormal liver morphology	2	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome			59
HP:0002012	HP:0002896	Neoplasm of the liver	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome			59
HP:0002012	HP:0025408	Abnormal spleen morphology	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome			59
HP:0002012	HP:0025408	Abnormal spleen morphology	2	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome			59
HP:0002012	HP:0025409	Abnormal spleen physiology	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome			59
HP:0002012	HP:0025408	Abnormal spleen morphology	2	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0002012	HP:0410042	Abnormal liver morphology	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome			37
HP:0002012	HP:0410042	Abnormal liver morphology	2	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome			37
HP:0002012	HP:0002896	Neoplasm of the liver	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome			37
HP:0002012	HP:0025408	Abnormal spleen morphology	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome			37
HP:0002012	HP:0025408	Abnormal spleen morphology	2	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome			37
HP:0002012	HP:0025409	Abnormal spleen physiology	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome			37
HP:0002012	HP:0025408	Abnormal spleen morphology	2	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0002012	HP:0410042	Abnormal liver morphology	2	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2			1361
HP:0002012	HP:0410042	Abnormal liver morphology	2	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency			64
HP:0002012	HP:0410042	Abnormal liver morphology	2	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency			64
HP:0002012	HP:0410042	Abnormal liver morphology	2	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0002012	HP:0004297	Abnormality of the biliary system	2	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0002012	HP:0025408	Abnormal spleen morphology	2	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0002012	HP:0004297	Abnormality of the biliary system	2	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia			5
HP:0002012	HP:0025408	Abnormal spleen morphology	2	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0002012	HP:0410042	Abnormal liver morphology	2	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
HP:0002012	HP:0410042	Abnormal liver morphology	2	FECH CL E G H	2235	3647	ORPHA:79278	Autosomal erythropoietic protoporphyria			145
HP:0002012	HP:0004297	Abnormality of the biliary system	2	FECH CL E G H	2235	3647	ORPHA:79278	Autosomal erythropoietic protoporphyria			145
HP:0002012	HP:0004297	Abnormality of the biliary system	2	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1			145
HP:0002012	HP:0410042	Abnormal liver morphology	2	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III			23
HP:0002012	HP:0025408	Abnormal spleen morphology	2	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III			23
HP:0002012	HP:0025408	Abnormal spleen morphology	2	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included			47
HP:0002012	HP:0410042	Abnormal liver morphology	2	FGA CL E G H	2243	3661	OMIM:105200	Amyloidosis, familial visceral			47
HP:0002012	HP:0004297	Abnormality of the biliary system	2	FGA CL E G H	2243	3661	OMIM:105200	Amyloidosis, familial visceral			47
HP:0002012	HP:0025408	Abnormal spleen morphology	2	FGA CL E G H	2243	3661	OMIM:105200	Amyloidosis, familial visceral			47
HP:0002012	HP:0025408	Abnormal spleen morphology	2	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included			62
HP:0002012	HP:0410042	Abnormal liver morphology	2	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome			175
HP:0002012	HP:0025408	Abnormal spleen morphology	2	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome			175
HP:0002012	HP:0410042	Abnormal liver morphology	2	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0002012	HP:0025408	Abnormal spleen morphology	2	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0002012	HP:0004297	Abnormality of the biliary system	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0002012	HP:0025408	Abnormal spleen morphology	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0002012	HP:0025408	Abnormal spleen morphology	2	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included			34
HP:0002012	HP:0004297	Abnormality of the biliary system	2	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency			301
HP:0002012	HP:0004297	Abnormality of the biliary system	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional		8
HP:0002012	HP:0004297	Abnormality of the biliary system	2	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I			233
HP:0002012	HP:0410042	Abnormal liver morphology	2	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy			197
HP:0002012	HP:0410042	Abnormal liver morphology	2	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia			11
HP:0002012	HP:0025408	Abnormal spleen morphology	2	FMO3 CL E G H	2328	3771	OMIM:602079	Trimethylaminuria			55
HP:0002012	HP:0410042	Abnormal liver morphology	2	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0002586	Peritonitis	2	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0004297	Abnormality of the biliary system	2	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0025408	Abnormal spleen morphology	2	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0031865	Abnormal liver physiology	2	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0410042	Abnormal liver morphology	2	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0002012	HP:0025408	Abnormal spleen morphology	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0002012	HP:0004297	Abnormality of the biliary system	2	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0002012	HP:0025408	Abnormal spleen morphology	2	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0002012	HP:0003363	Abdominal situs inversus	2	FOXJ1 CL E G H	2302	3816	OMIM:618699	CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0002012	HP:0025408	Abnormal spleen morphology	2	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0410042	Abnormal liver morphology	2	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome			32
HP:0002012	HP:0025408	Abnormal spleen morphology	2	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome			32
HP:0002012	HP:0410042	Abnormal liver morphology	2	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked			32
HP:0002012	HP:0410042	Abnormal liver morphology	2	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0002012	HP:0410042	Abnormal liver morphology	2	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0002012	HP:0410042	Abnormal liver morphology	2	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis			43
HP:0002012	HP:0004297	Abnormality of the biliary system	2	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis			43
HP:0002012	HP:0025408	Abnormal spleen morphology	2	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0002012	HP:0410042	Abnormal liver morphology	2	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0002012	HP:0002896	Neoplasm of the liver	2	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia
HP:0002012	HP:0410042	Abnormal liver morphology	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0002012	HP:0025408	Abnormal spleen morphology	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0002012	HP:0004297	Abnormality of the biliary system	2	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			101
HP:0002012	HP:0025408	Abnormal spleen morphology	2	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			101
HP:0002012	HP:0410042	Abnormal liver morphology	2	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset			407
HP:0002012	HP:0410042	Abnormal liver morphology	2	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II			407
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II			407
HP:0002012	HP:0410042	Abnormal liver morphology	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0002012	HP:0410042	Abnormal liver morphology	2	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency			52
HP:0002012	HP:0004297	Abnormality of the biliary system	2	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency			52
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency			52
HP:0002012	HP:0410042	Abnormal liver morphology	2	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency			23
HP:0002012	HP:0004297	Abnormality of the biliary system	2	GALK1 CL E G H	2584	4118	OMIM:230200	Galactokinase deficiency			23
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency			23
HP:0002012	HP:0410042	Abnormal liver morphology	2	GALM CL E G H	130589	24063	ORPHA:570422	Galactose mutarotase deficiency
HP:0002012	HP:0004297	Abnormality of the biliary system	2	GALM CL E G H	130589	24063	ORPHA:570422	Galactose mutarotase deficiency
HP:0002012	HP:0004297	Abnormality of the biliary system	2	GALM CL E G H	130589	24063	OMIM:618881	GALACTOSEMIA IV; GALAC4
HP:0002012	HP:0410042	Abnormal liver morphology	2	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0002012	HP:0410042	Abnormal liver morphology	2	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia			351
HP:0002012	HP:0004297	Abnormality of the biliary system	2	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia			351
HP:0002012	HP:0410042	Abnormal liver morphology	2	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA			351
HP:0002012	HP:0410042	Abnormal liver morphology	2	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease			6
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease			6
HP:0002012	HP:0410042	Abnormal liver morphology	2	GANAB CL E G H	23193	4138	OMIM:600666	Polycystic kidney disease 3			6
HP:0002012	HP:0002586	Peritonitis	2	GAPVD1 CL E G H	26130	23375	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040284 - Very rare
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GATA1 CL E G H	2623	4170	ORPHA:231393	Beta-thalassemia-X-linked thrombocytopenia syndrome			29
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked			29
HP:0002012	HP:0410042	Abnormal liver morphology	2	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome			137
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome			137
HP:0002012	HP:0004297	Abnormality of the biliary system	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0002012	HP:0004297	Abnormality of the biliary system	2	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0002012	HP:0410042	Abnormal liver morphology	2	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0002012	HP:0410042	Abnormal liver morphology	2	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0002012	HP:0004297	Abnormality of the biliary system	2	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0002012	HP:0025409	Abnormal spleen physiology	2	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0002012	HP:0410042	Abnormal liver morphology	2	GBA1 CL E G H	2629	4177	ORPHA:77260	Gaucher disease type 2
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GBA1 CL E G H	2629	4177	ORPHA:77260	Gaucher disease type 2
HP:0002012	HP:0410042	Abnormal liver morphology	2	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0002012	HP:0410042	Abnormal liver morphology	2	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0002012	HP:0410042	Abnormal liver morphology	2	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0002012	HP:0025409	Abnormal spleen physiology	2	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I
HP:0002012	HP:0410042	Abnormal liver morphology	2	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II
HP:0002012	HP:0410042	Abnormal liver morphology	2	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III
HP:0002012	HP:0410042	Abnormal liver morphology	2	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC
HP:0002012	HP:0410042	Abnormal liver morphology	2	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0002012	HP:0004297	Abnormality of the biliary system	2	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0002012	HP:0410042	Abnormal liver morphology	2	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV			86
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV			86
HP:0002012	HP:0410042	Abnormal liver morphology	2	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I			115
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	GCGR CL E G H	2642	4192	ORPHA:438274	GCGR-related hyperglucagonemia	HP:0040282 - Frequent		1
HP:0002012	HP:0004297	Abnormality of the biliary system	2	GCGR CL E G H	2642	4192	ORPHA:438274	GCGR-related hyperglucagonemia			1
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH			1
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0002012	HP:0002896	Neoplasm of the liver	2	GCK CL E G H	2645	4195	ORPHA:552	MODY			237
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	GCK CL E G H	2645	4195	ORPHA:552	MODY			237
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	GCK CL E G H	2645	4195	ORPHA:552	MODY			237
HP:0002012	HP:0410042	Abnormal liver morphology	2	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0002012	HP:0410042	Abnormal liver morphology	2	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency			2
HP:0002012	HP:0004297	Abnormality of the biliary system	2	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency			2
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency			2
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0002012	HP:0031565	Abdominal situs ambiguus	2	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0002012	HP:0410042	Abnormal liver morphology	2	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia			8
HP:0002012	HP:0004297	Abnormality of the biliary system	2	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia			8
HP:0002012	HP:0410042	Abnormal liver morphology	2	GDF2 CL E G H	2658	4217	OMIM:615506	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT5			8
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1			85
HP:0002012	HP:0004297	Abnormality of the biliary system	2	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1			85
HP:0002012	HP:0004297	Abnormality of the biliary system	2	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA			50
HP:0002012	HP:0410042	Abnormal liver morphology	2	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0002012	HP:0002896	Neoplasm of the liver	2	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0002012	HP:0410042	Abnormal liver morphology	2	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0002012	HP:0410042	Abnormal liver morphology	2	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0002012	HP:0410042	Abnormal liver morphology	2	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II			120
HP:0002012	HP:0410042	Abnormal liver morphology	2	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)			120
HP:0002012	HP:0410042	Abnormal liver morphology	2	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0002012	HP:0004297	Abnormality of the biliary system	2	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0002012	HP:0410042	Abnormal liver morphology	2	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory			17
HP:0002012	HP:0004297	Abnormality of the biliary system	2	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory			17
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory			17
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	GNA11 CL E G H	2767	4379	OMIM:145981	Hypocalciuric hypercalcemia, familial, type II			16
HP:0002012	HP:0410042	Abnormal liver morphology	2	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0002012	HP:0410042	Abnormal liver morphology	2	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome			101
HP:0002012	HP:0002896	Neoplasm of the liver	2	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome			101
HP:0002012	HP:0004297	Abnormality of the biliary system	2	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome			101
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome			101
HP:0002012	HP:0410042	Abnormal liver morphology	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002012	HP:0004297	Abnormality of the biliary system	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002012	HP:0410042	Abnormal liver morphology	2	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0002012	HP:0410042	Abnormal liver morphology	2	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0002012	HP:0004297	Abnormality of the biliary system	2	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA			173
HP:0002012	HP:0410042	Abnormal liver morphology	2	GNMT CL E G H	27232	4415	OMIM:606664	GLYCINE N-METHYLTRANSFERASE DEFICIENCY			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0002012	HP:0410042	Abnormal liver morphology	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0002012	HP:0410042	Abnormal liver morphology	2	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant			23
HP:0002012	HP:0004297	Abnormality of the biliary system	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0002012	HP:0002896	Neoplasm of the liver	2	GPC3 CL E G H	2719	4451	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		73
HP:0002012	HP:0410042	Abnormal liver morphology	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0002012	HP:0002896	Neoplasm of the liver	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0002012	HP:0410042	Abnormal liver morphology	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0002012	HP:0002896	Neoplasm of the liver	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0002012	HP:0410042	Abnormal liver morphology	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0002012	HP:0002896	Neoplasm of the liver	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0002012	HP:0410042	Abnormal liver morphology	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002012	HP:0002896	Neoplasm of the liver	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002012	HP:0410042	Abnormal liver morphology	2	GPD1 CL E G H	2819	4455	OMIM:614480	Hypertriglyceridemia, transient infantile			3
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GPD1 CL E G H	2819	4455	OMIM:614480	Hypertriglyceridemia, transient infantile			3
HP:0002012	HP:0004297	Abnormality of the biliary system	2	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency			12
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency			12
HP:0002012	HP:0410042	Abnormal liver morphology	2	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID			12
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID			12
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID			12
HP:0002012	HP:0410042	Abnormal liver morphology	2	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0002012	HP:0002896	Neoplasm of the liver	2	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0002012	HP:0004297	Abnormality of the biliary system	2	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040283 - Occasional		53
HP:0002012	HP:0410042	Abnormal liver morphology	2	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0002012	HP:0004297	Abnormality of the biliary system	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0002012	HP:0004297	Abnormality of the biliary system	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0002012	HP:0004297	Abnormality of the biliary system	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I			124
HP:0002012	HP:0410042	Abnormal liver morphology	2	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7			54
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7			54
HP:0002012	HP:0410042	Abnormal liver morphology	2	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0002012	HP:0004297	Abnormality of the biliary system	2	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis			5
HP:0002012	HP:0025408	Abnormal spleen morphology	2	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis			5
HP:0002012	HP:0002896	Neoplasm of the liver	2	H19 CL E G H	283120	4713	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		4
HP:0002012	HP:0410042	Abnormal liver morphology	2	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0002012	HP:0002896	Neoplasm of the liver	2	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0002012	HP:0002896	Neoplasm of the liver	2	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome
HP:0002012	HP:0410042	Abnormal liver morphology	2	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency			41
HP:0002012	HP:0410042	Abnormal liver morphology	2	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency			41
HP:0002012	HP:0410042	Abnormal liver morphology	2	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency			99
HP:0002012	HP:0004297	Abnormality of the biliary system	2	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency			99
HP:0002012	HP:0410042	Abnormal liver morphology	2	HADHA CL E G H	3030	4801	OMIM:609016	Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency			99
HP:0002012	HP:0410042	Abnormal liver morphology	2	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0002012	HP:0004297	Abnormality of the biliary system	2	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0002012	HP:0004297	Abnormality of the biliary system	2	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0002012	HP:0410042	Abnormal liver morphology	2	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0002012	HP:0004297	Abnormality of the biliary system	2	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0002012	HP:0004297	Abnormality of the biliary system	2	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0002012	HP:0410042	Abnormal liver morphology	2	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2			15
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2			15
HP:0002012	HP:0410042	Abnormal liver morphology	2	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B			15
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B			15
HP:0002012	HP:0410042	Abnormal liver morphology	2	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE
HP:0002012	HP:0410042	Abnormal liver morphology	2	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis			200
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis			200
HP:0002012	HP:0410042	Abnormal liver morphology	2	HBA1 CL E G H	3039	4823	OMIM:613978	Hemoglobin H disease			200
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HBA1 CL E G H	3039	4823	OMIM:613978	Hemoglobin H disease			200
HP:0002012	HP:0410042	Abnormal liver morphology	2	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis			88
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis			88
HP:0002012	HP:0410042	Abnormal liver morphology	2	HBA2 CL E G H	3040	4824	OMIM:613978	Hemoglobin H disease			88
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HBA2 CL E G H	3040	4824	OMIM:613978	Hemoglobin H disease			88
HP:0002012	HP:0410042	Abnormal liver morphology	2	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia			580
HP:0002012	HP:0002896	Neoplasm of the liver	2	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia			580
HP:0002012	HP:0004297	Abnormality of the biliary system	2	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia			580
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia			580
HP:0002012	HP:0410042	Abnormal liver morphology	2	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0002012	HP:0002896	Neoplasm of the liver	2	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0002012	HP:0004297	Abnormality of the biliary system	2	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0002012	HP:0025409	Abnormal spleen physiology	2	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0002012	HP:0410042	Abnormal liver morphology	2	HBB CL E G H	3043	4827	OMIM:603902	BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE			580
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HBB CL E G H	3043	4827	OMIM:603902	BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE			580
HP:0002012	HP:0410042	Abnormal liver morphology	2	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0002012	HP:0002896	Neoplasm of the liver	2	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0002012	HP:0004297	Abnormality of the biliary system	2	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0002012	HP:0025409	Abnormal spleen physiology	2	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HBB CL E G H	3043	4827	ORPHA:231242	Hemoglobin C-beta-thalassemia syndrome			580
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease			580
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease			580
HP:0002012	HP:0410042	Abnormal liver morphology	2	HBB CL E G H	3043	4827	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome			580
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HBB CL E G H	3043	4827	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome			580
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			580
HP:0002012	HP:0410042	Abnormal liver morphology	2	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia			580
HP:0002012	HP:0004297	Abnormality of the biliary system	2	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia			580
HP:0002012	HP:0004297	Abnormality of the biliary system	2	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia			580
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia			580
HP:0002012	HP:0410042	Abnormal liver morphology	2	HBG1 CL E G H	3047	4831	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome			35
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HBG1 CL E G H	3047	4831	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome			35
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			35
HP:0002012	HP:0410042	Abnormal liver morphology	2	HBG2 CL E G H	3048	4832	OMIM:613977	Cyanosis, transient neonatal			50
HP:0002012	HP:0004297	Abnormality of the biliary system	2	HBG2 CL E G H	3048	4832	OMIM:613977	Cyanosis, transient neonatal			50
HP:0002012	HP:0410042	Abnormal liver morphology	2	HBG2 CL E G H	3048	4832	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome			50
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HBG2 CL E G H	3048	4832	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome			50
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			50
HP:0002012	HP:0004297	Abnormality of the biliary system	2	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0002012	HP:0410042	Abnormal liver morphology	2	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0002012	HP:0410042	Abnormal liver morphology	2	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0002012	HP:0410042	Abnormal liver morphology	2	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0002012	HP:0410042	Abnormal liver morphology	2	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1			38
HP:0002012	HP:0002896	Neoplasm of the liver	2	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1			38
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1			38
HP:0002012	HP:0410042	Abnormal liver morphology	2	HFE CL E G H	3077	4886	OMIM:176100	Porphyria cutanea tarda			38
HP:0002012	HP:0002896	Neoplasm of the liver	2	HFE CL E G H	3077	4886	OMIM:176100	Porphyria cutanea tarda			38
HP:0002012	HP:0410042	Abnormal liver morphology	2	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0002012	HP:0002896	Neoplasm of the liver	2	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0002012	HP:0004297	Abnormality of the biliary system	2	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0002012	HP:0410042	Abnormal liver morphology	2	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0002012	HP:0004297	Abnormality of the biliary system	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2
HP:0002012	HP:0410042	Abnormal liver morphology	2	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A
HP:0002012	HP:0004297	Abnormality of the biliary system	2	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency			11
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency			11
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome			4
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:545	Follicular lymphoma			2
HP:0002012	HP:0410042	Abnormal liver morphology	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0002012	HP:0410042	Abnormal liver morphology	2	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0002012	HP:0410042	Abnormal liver morphology	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0002012	HP:0002896	Neoplasm of the liver	2	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria			81
HP:0002012	HP:0002896	Neoplasm of the liver	2	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent			81
HP:0002012	HP:0410042	Abnormal liver morphology	2	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0002012	HP:0004297	Abnormality of the biliary system	2	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0002012	HP:0410042	Abnormal liver morphology	2	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency			35
HP:0002012	HP:0410042	Abnormal liver morphology	2	HMGCS2 CL E G H	3158	5008	OMIM:605911	3-Hydroxy-3-Methylglutaryl-Coa synthase-2 deficiency			42
HP:0002012	HP:0410042	Abnormal liver morphology	2	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D			3
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D			3
HP:0002012	HP:0002896	Neoplasm of the liver	2	HNF1A CL E G H	6927	11621	OMIM:142330	Hepatic adenomas, familial			161
HP:0002012	HP:0410042	Abnormal liver morphology	2	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency			161
HP:0002012	HP:0002896	Neoplasm of the liver	2	HNF1A CL E G H	6927	11621	ORPHA:552	MODY			161
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	HNF1A CL E G H	6927	11621	ORPHA:552	MODY			161
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	HNF1A CL E G H	6927	11621	ORPHA:552	MODY			161
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome			90
HP:0002012	HP:0410042	Abnormal liver morphology	2	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease			90
HP:0002012	HP:0004297	Abnormality of the biliary system	2	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease			90
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease			90
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease			90
HP:0002012	HP:0004297	Abnormality of the biliary system	2	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome			90
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome			90
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome			90
HP:0002012	HP:0410042	Abnormal liver morphology	2	HNF4A CL E G H	3172	5024	OMIM:616026	Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young			138
HP:0002012	HP:0410042	Abnormal liver morphology	2	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0002012	HP:0002896	Neoplasm of the liver	2	HNF4A CL E G H	3172	5024	ORPHA:552	MODY			138
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	HNF4A CL E G H	3172	5024	ORPHA:552	MODY			138
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	HNF4A CL E G H	3172	5024	ORPHA:552	MODY			138
HP:0002012	HP:0410042	Abnormal liver morphology	2	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			31
HP:0002012	HP:0410042	Abnormal liver morphology	2	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			5
HP:0002012	HP:0004297	Abnormality of the biliary system	2	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association			25
HP:0002012	HP:0410042	Abnormal liver morphology	2	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis			55
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis			55
HP:0002012	HP:0410042	Abnormal liver morphology	2	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0002012	HP:0004297	Abnormality of the biliary system	2	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0002012	HP:0410042	Abnormal liver morphology	2	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1			26
HP:0002012	HP:0004297	Abnormality of the biliary system	2	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1			26
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1			26
HP:0002012	HP:0031865	Abnormal liver physiology	2	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1			26
HP:0002012	HP:0410042	Abnormal liver morphology	2	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1			26
HP:0002012	HP:0004297	Abnormality of the biliary system	2	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1			26
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1			26
HP:0002012	HP:0410042	Abnormal liver morphology	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0002012	HP:0004297	Abnormality of the biliary system	2	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0002012	HP:0025408	Abnormal spleen morphology	2	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0002012	HP:0410042	Abnormal liver morphology	2	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0002012	HP:0410042	Abnormal liver morphology	2	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0002012	HP:0004297	Abnormality of the biliary system	2	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0002012	HP:0410042	Abnormal liver morphology	2	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0002012	HP:0004297	Abnormality of the biliary system	2	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0002012	HP:0410042	Abnormal liver morphology	2	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency			32
HP:0002012	HP:0410042	Abnormal liver morphology	2	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1			32
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1			32
HP:0002012	HP:0410042	Abnormal liver morphology	2	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2			32
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2			32
HP:0002012	HP:0410042	Abnormal liver morphology	2	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0002012	HP:0410042	Abnormal liver morphology	2	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0002012	HP:0410042	Abnormal liver morphology	2	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0002012	HP:0410042	Abnormal liver morphology	2	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0002012	HP:0410042	Abnormal liver morphology	2	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0002012	HP:0410042	Abnormal liver morphology	2	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0002012	HP:0410042	Abnormal liver morphology	2	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome			115
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome			115
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome			115
HP:0002012	HP:0410042	Abnormal liver morphology	2	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome			115
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome			115
HP:0002012	HP:0004297	Abnormality of the biliary system	2	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome			6
HP:0002012	HP:0410042	Abnormal liver morphology	2	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0002012	HP:0004297	Abnormality of the biliary system	2	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0002012	HP:0410042	Abnormal liver morphology	2	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0002012	HP:0410042	Abnormal liver morphology	2	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69			23
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69			23
HP:0002012	HP:0410042	Abnormal liver morphology	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0002012	HP:0410042	Abnormal liver morphology	2	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR			60
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR			60
HP:0002012	HP:0410042	Abnormal liver morphology	2	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0002012	HP:0004297	Abnormality of the biliary system	2	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0002012	HP:0410042	Abnormal liver morphology	2	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease			148
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease			148
HP:0002012	HP:0410042	Abnormal liver morphology	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0002012	HP:0004297	Abnormality of the biliary system	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0002012	HP:0410042	Abnormal liver morphology	2	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome			48
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0002012	HP:0410042	Abnormal liver morphology	2	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly			48
HP:0002012	HP:0004297	Abnormality of the biliary system	2	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly			48
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly			48
HP:0002012	HP:0410042	Abnormal liver morphology	2	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3			11
HP:0002012	HP:0410042	Abnormal liver morphology	2	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			65
HP:0002012	HP:0410042	Abnormal liver morphology	2	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0002012	HP:0002896	Neoplasm of the liver	2	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0002012	HP:0002896	Neoplasm of the liver	2	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome			9
HP:0002012	HP:0410042	Abnormal liver morphology	2	IGF2R CL E G H	3482	5467	OMIM:114550	Hepatocellular carcinoma			4
HP:0002012	HP:0002896	Neoplasm of the liver	2	IGF2R CL E G H	3482	5467	OMIM:114550	Hepatocellular carcinoma			4
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IGH CL E G H	3492	5477	ORPHA:545	Follicular lymphoma			7
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IGH CL E G H	3492	5477	ORPHA:52416	Mantle cell lymphoma			7
HP:0002012	HP:0410042	Abnormal liver morphology	2	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0002012	HP:0004297	Abnormality of the biliary system	2	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia			7
HP:0002012	HP:0410042	Abnormal liver morphology	2	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0002012	HP:0004297	Abnormality of the biliary system	2	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0002012	HP:0410042	Abnormal liver morphology	2	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	IKBKG CL E G H	8517	5961	OMIM:301081				52
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IKBKG CL E G H	8517	5961	OMIM:301081				52
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome			8
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0002012	HP:0410042	Abnormal liver morphology	2	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0002896	Neoplasm of the liver	2	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0004297	Abnormality of the biliary system	2	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0002012	HP:0410042	Abnormal liver morphology	2	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis			46
HP:0002012	HP:0002896	Neoplasm of the liver	2	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis			46
HP:0002012	HP:0004297	Abnormality of the biliary system	2	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis			46
HP:0002012	HP:0410042	Abnormal liver morphology	2	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis			14
HP:0002012	HP:0410042	Abnormal liver morphology	2	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis			196
HP:0002012	HP:0410042	Abnormal liver morphology	2	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis			4
HP:0002012	HP:0410042	Abnormal liver morphology	2	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0002012	HP:0004297	Abnormality of the biliary system	2	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0002012	HP:0410042	Abnormal liver morphology	2	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0002012	HP:0410042	Abnormal liver morphology	2	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56			7
HP:0002012	HP:0004297	Abnormality of the biliary system	2	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56			7
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0002012	HP:0410042	Abnormal liver morphology	2	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			65
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			65
HP:0002012	HP:0410042	Abnormal liver morphology	2	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0002012	HP:0410042	Abnormal liver morphology	2	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0002012	HP:0410042	Abnormal liver morphology	2	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome			48
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome			48
HP:0002012	HP:0410042	Abnormal liver morphology	2	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked			48
HP:0002012	HP:0410042	Abnormal liver morphology	2	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency			48
HP:0002012	HP:0004297	Abnormality of the biliary system	2	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency			48
HP:0002012	HP:0004297	Abnormality of the biliary system	2	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14			51
HP:0002012	HP:0410042	Abnormal liver morphology	2	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0002012	HP:0410042	Abnormal liver morphology	2	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0002012	HP:0410042	Abnormal liver morphology	2	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome			94
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome			94
HP:0002012	HP:0410042	Abnormal liver morphology	2	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:0002012	HP:0025408	Abnormal spleen morphology	2	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:0002012	HP:0410042	Abnormal liver morphology	2	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency			94
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency			94
HP:0002012	HP:0002586	Peritonitis	2	INF2 CL E G H	64423	23791	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040284 - Very rare		135
HP:0002012	HP:0410042	Abnormal liver morphology	2	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0002012	HP:0410042	Abnormal liver morphology	2	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0002012	HP:0002896	Neoplasm of the liver	2	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		111
HP:0002012	HP:0004297	Abnormality of the biliary system	2	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0002012	HP:0025408	Abnormal spleen morphology	2	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0002012	HP:0410042	Abnormal liver morphology	2	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia			18
HP:0002012	HP:0025408	Abnormal spleen morphology	2	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia			18
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0002012	HP:0002896	Neoplasm of the liver	2	INS CL E G H	3630	6081	ORPHA:552	MODY			62
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	INS CL E G H	3630	6081	ORPHA:552	MODY			62
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	INS CL E G H	3630	6081	ORPHA:552	MODY			62
HP:0002012	HP:0410042	Abnormal liver morphology	2	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0002012	HP:0004297	Abnormality of the biliary system	2	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0002012	HP:0410042	Abnormal liver morphology	2	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0002012	HP:0004297	Abnormality of the biliary system	2	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0002012	HP:0410042	Abnormal liver morphology	2	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome			106
HP:0002012	HP:0410042	Abnormal liver morphology	2	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome			61
HP:0002012	HP:0410042	Abnormal liver morphology	2	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67			58
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency			4
HP:0002012	HP:0410042	Abnormal liver morphology	2	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis			4
HP:0002012	HP:0002896	Neoplasm of the liver	2	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis			4
HP:0002012	HP:0004297	Abnormality of the biliary system	2	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis			4
HP:0002012	HP:0410042	Abnormal liver morphology	2	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B			5
HP:0002012	HP:0025408	Abnormal spleen morphology	2	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B			5
HP:0002012	HP:0410042	Abnormal liver morphology	2	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0002012	HP:0025409	Abnormal spleen physiology	2	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0002012	HP:0025409	Abnormal spleen physiology	2	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1			51
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1			51
HP:0002012	HP:0004297	Abnormality of the biliary system	2	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis			130
HP:0002012	HP:0410042	Abnormal liver morphology	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0002012	HP:0002896	Neoplasm of the liver	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0002012	HP:0004297	Abnormality of the biliary system	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0002012	HP:0410042	Abnormal liver morphology	2	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE			12
HP:0002012	HP:0025408	Abnormal spleen morphology	2	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE			12
HP:0002012	HP:0410042	Abnormal liver morphology	2	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome			57
HP:0002012	HP:0410042	Abnormal liver morphology	2	JAK2 CL E G H	3717	6192	OMIM:600880	Budd-Chiari syndrome			57
HP:0002012	HP:0002586	Peritonitis	2	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional		57
HP:0002012	HP:0002896	Neoplasm of the liver	2	JAK2 CL E G H	3717	6192	OMIM:600880	Budd-Chiari syndrome			57
HP:0002012	HP:0004297	Abnormality of the biliary system	2	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome			57
HP:0002012	HP:0025408	Abnormal spleen morphology	2	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome			57
HP:0002012	HP:0025408	Abnormal spleen morphology	2	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1			57
HP:0002012	HP:0025408	Abnormal spleen morphology	2	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia			57
HP:0002012	HP:0025408	Abnormal spleen morphology	2	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis			57
HP:0002012	HP:0025408	Abnormal spleen morphology	2	JAK2 CL E G H	3717	6192	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included			57
HP:0002012	HP:0410042	Abnormal liver morphology	2	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera			57
HP:0002012	HP:0025408	Abnormal spleen morphology	2	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera			57
HP:0002012	HP:0025408	Abnormal spleen morphology	2	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera			57
HP:0002012	HP:0410042	Abnormal liver morphology	2	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis			57
HP:0002012	HP:0025408	Abnormal spleen morphology	2	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis			57
HP:0002012	HP:0410042	Abnormal liver morphology	2	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency			140
HP:0002012	HP:0025408	Abnormal spleen morphology	2	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency			140
HP:0002012	HP:0410042	Abnormal liver morphology	2	JAM2 CL E G H	58494	14686	ORPHA:1980	Bilateral striopallidodentate calcinosis
HP:0002012	HP:0410042	Abnormal liver morphology	2	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts			4
HP:0002012	HP:0004297	Abnormality of the biliary system	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0002012	HP:0025408	Abnormal spleen morphology	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0002012	HP:0025408	Abnormal spleen morphology	2	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			10
HP:0002012	HP:0410042	Abnormal liver morphology	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0002012	HP:0025408	Abnormal spleen morphology	2	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome			13
HP:0002012	HP:0410042	Abnormal liver morphology	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0002012	HP:0025408	Abnormal spleen morphology	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0002012	HP:0410042	Abnormal liver morphology	2	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency			127
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency			127
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	KCNJ11 CL E G H	3767	6257	OMIM:601820	Hyperinsulinemic hypoglycemia, familial, 2			127
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	KCNJ11 CL E G H	3767	6257	OMIM:601820	Hyperinsulinemic hypoglycemia, familial, 2			127
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0002012	HP:0002896	Neoplasm of the liver	2	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY			127
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY			127
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY			127
HP:0002012	HP:0410042	Abnormal liver morphology	2	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0002012	HP:0025408	Abnormal spleen morphology	2	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome			7
HP:0002012	HP:0410042	Abnormal liver morphology	2	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0002012	HP:0004297	Abnormality of the biliary system	2	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis			3
HP:0002012	HP:0025408	Abnormal spleen morphology	2	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2			3
HP:0002012	HP:0004297	Abnormality of the biliary system	2	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2			3
HP:0002012	HP:0025408	Abnormal spleen morphology	2	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0002012	HP:0002896	Neoplasm of the liver	2	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0002012	HP:0410042	Abnormal liver morphology	2	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0002012	HP:0002896	Neoplasm of the liver	2	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0002012	HP:0004297	Abnormality of the biliary system	2	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0002012	HP:0410042	Abnormal liver morphology	2	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8			1
HP:0002012	HP:0004297	Abnormality of the biliary system	2	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	KIF20A CL E G H	10112	9787	OMIM:619433	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0002012	HP:0410042	Abnormal liver morphology	2	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy
HP:0002012	HP:0004297	Abnormality of the biliary system	2	KIF23 CL E G H	9493	6392	OMIM:105600	Anemia, dyserythropoietic congenital, type III			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0002012	HP:0004297	Abnormality of the biliary system	2	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0002012	HP:0025408	Abnormal spleen morphology	2	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0002012	HP:0410042	Abnormal liver morphology	2	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			327
HP:0002012	HP:0025408	Abnormal spleen morphology	2	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			327
HP:0002012	HP:0410042	Abnormal liver morphology	2	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0002012	HP:0025408	Abnormal spleen morphology	2	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0002012	HP:0410042	Abnormal liver morphology	2	KLF1 CL E G H	10661	6345	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome			42
HP:0002012	HP:0025408	Abnormal spleen morphology	2	KLF1 CL E G H	10661	6345	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome			42
HP:0002012	HP:0025408	Abnormal spleen morphology	2	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			42
HP:0002012	HP:0002896	Neoplasm of the liver	2	KLF11 CL E G H	8462	11811	ORPHA:552	MODY			78
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	KLF11 CL E G H	8462	11811	ORPHA:552	MODY			78
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	KLF11 CL E G H	8462	11811	ORPHA:552	MODY			78
HP:0002012	HP:0025408	Abnormal spleen morphology	2	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0002012	HP:0410042	Abnormal liver morphology	2	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0002012	HP:0004297	Abnormality of the biliary system	2	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome			13
HP:0002012	HP:0025408	Abnormal spleen morphology	2	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome			13
HP:0002012	HP:0410042	Abnormal liver morphology	2	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41			13
HP:0002012	HP:0025408	Abnormal spleen morphology	2	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41			13
HP:0002012	HP:0410042	Abnormal liver morphology	2	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma			196
HP:0002012	HP:0100592	Peritoneal abscess	2	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		196
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma			196
HP:0002012	HP:0002896	Neoplasm of the liver	2	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		196
HP:0002012	HP:0004297	Abnormality of the biliary system	2	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma			196
HP:0002012	HP:0025408	Abnormal spleen morphology	2	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma			196
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma			196
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		196
HP:0002012	HP:0002896	Neoplasm of the liver	2	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome			196
HP:0002012	HP:0410042	Abnormal liver morphology	2	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	KRAS CL E G H	3845	6407	OMIM:260350	Pancreatic cancer	.		196
HP:0002012	HP:0410042	Abnormal liver morphology	2	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic			196
HP:0002012	HP:0025408	Abnormal spleen morphology	2	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic			196
HP:0002012	HP:0410042	Abnormal liver morphology	2	KRIT1 CL E G H	889	1573	OMIM:116860	Cerebral cavernous malformations 1			92
HP:0002012	HP:0410042	Abnormal liver morphology	2	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial			19
HP:0002012	HP:0004297	Abnormality of the biliary system	2	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial			19
HP:0002012	HP:0004297	Abnormality of the biliary system	2	KYNU CL E G H	8942	6469	OMIM:236800	HYDROXYKYNURENINURIA			5
HP:0002012	HP:0410042	Abnormal liver morphology	2	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0002012	HP:0410042	Abnormal liver morphology	2	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52			2
HP:0002012	HP:0410042	Abnormal liver morphology	2	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0002012	HP:0025408	Abnormal spleen morphology	2	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0002012	HP:0410042	Abnormal liver morphology	2	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome			70
HP:0002012	HP:0410042	Abnormal liver morphology	2	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome			70
HP:0002012	HP:0004297	Abnormality of the biliary system	2	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome			70
HP:0002012	HP:0004297	Abnormality of the biliary system	2	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome			70
HP:0002012	HP:0025408	Abnormal spleen morphology	2	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome			70
HP:0002012	HP:0410042	Abnormal liver morphology	2	LCAT CL E G H	3931	6522	ORPHA:79292	Fish-eye disease			26
HP:0002012	HP:0025408	Abnormal spleen morphology	2	LCAT CL E G H	3931	6522	ORPHA:79292	Fish-eye disease			26
HP:0002012	HP:0410042	Abnormal liver morphology	2	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia			2157
HP:0002012	HP:0410042	Abnormal liver morphology	2	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia			73
HP:0002012	HP:0003363	Abdominal situs inversus	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		2
HP:0002012	HP:0004297	Abnormality of the biliary system	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0002012	HP:0004297	Abnormality of the biliary system	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0002012	HP:0025408	Abnormal spleen morphology	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome
HP:0002012	HP:0004297	Abnormality of the biliary system	2	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0002012	HP:0004297	Abnormality of the biliary system	2	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0002012	HP:0410042	Abnormal liver morphology	2	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome			88
HP:0002012	HP:0410042	Abnormal liver morphology	2	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome			88
HP:0002012	HP:0025408	Abnormal spleen morphology	2	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome			88
HP:0002012	HP:0004297	Abnormality of the biliary system	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0002012	HP:0410042	Abnormal liver morphology	2	LIPA CL E G H	3988	6617	ORPHA:75234	Cholesteryl ester storage disease			73
HP:0002012	HP:0004297	Abnormality of the biliary system	2	LIPA CL E G H	3988	6617	ORPHA:75234	Cholesteryl ester storage disease			73
HP:0002012	HP:0025408	Abnormal spleen morphology	2	LIPA CL E G H	3988	6617	ORPHA:75234	Cholesteryl ester storage disease			73
HP:0002012	HP:0410042	Abnormal liver morphology	2	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0002012	HP:0025408	Abnormal spleen morphology	2	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0002012	HP:0025409	Abnormal spleen physiology	2	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0002012	HP:0410042	Abnormal liver morphology	2	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease			73
HP:0002012	HP:0025408	Abnormal spleen morphology	2	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease			73
HP:0002012	HP:0410042	Abnormal liver morphology	2	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy			7
HP:0002012	HP:0410042	Abnormal liver morphology	2	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6			7
HP:0002012	HP:0004297	Abnormality of the biliary system	2	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF			46
HP:0002012	HP:0410042	Abnormal liver morphology	2	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	LMF1 CL E G H	64788	14154	OMIM:246650	LIPASE DEFICIENCY, COMBINED			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0002012	HP:0410042	Abnormal liver morphology	2	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0002012	HP:0025408	Abnormal spleen morphology	2	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0002012	HP:0410042	Abnormal liver morphology	2	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type			645
HP:0002012	HP:0025408	Abnormal spleen morphology	2	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type			645
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type			645
HP:0002012	HP:0410042	Abnormal liver morphology	2	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type			645
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type			645
HP:0002012	HP:0410042	Abnormal liver morphology	2	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2			645
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2			645
HP:0002012	HP:0004297	Abnormality of the biliary system	2	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome			645
HP:0002012	HP:0410042	Abnormal liver morphology	2	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0002012	HP:0410042	Abnormal liver morphology	2	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy			11
HP:0002012	HP:0004297	Abnormality of the biliary system	2	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0002012	HP:0410042	Abnormal liver morphology	2	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome			186
HP:0002012	HP:0025408	Abnormal spleen morphology	2	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome			186
HP:0002012	HP:0410042	Abnormal liver morphology	2	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0002012	HP:0025408	Abnormal spleen morphology	2	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0002012	HP:0410042	Abnormal liver morphology	2	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia			106
HP:0002012	HP:0004297	Abnormality of the biliary system	2	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia			106
HP:0002012	HP:0025408	Abnormal spleen morphology	2	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia			106
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia			106
HP:0002012	HP:0025408	Abnormal spleen morphology	2	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0002012	HP:0410042	Abnormal liver morphology	2	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease			125
HP:0002012	HP:0410042	Abnormal liver morphology	2	LRP5 CL E G H	4041	6697	OMIM:617875	Polycystic liver disease 4 with or without kidney cysts			125
HP:0002012	HP:0410042	Abnormal liver morphology	2	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0002012	HP:0410042	Abnormal liver morphology	2	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0002012	HP:0025408	Abnormal spleen morphology	2	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0410042	Abnormal liver morphology	2	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0002012	HP:0004297	Abnormality of the biliary system	2	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0002012	HP:0025408	Abnormal spleen morphology	2	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0002012	HP:0410042	Abnormal liver morphology	2	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3			12
HP:0002012	HP:0410042	Abnormal liver morphology	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0002012	HP:0410042	Abnormal liver morphology	2	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0002012	HP:0410042	Abnormal liver morphology	2	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0002012	HP:0004297	Abnormality of the biliary system	2	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0002012	HP:0025408	Abnormal spleen morphology	2	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0002012	HP:0410042	Abnormal liver morphology	2	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0002012	HP:0004297	Abnormality of the biliary system	2	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0002012	HP:0025408	Abnormal spleen morphology	2	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0002012	HP:0410042	Abnormal liver morphology	2	LYZ CL E G H	4069	6740	OMIM:105200	Amyloidosis, familial visceral			32
HP:0002012	HP:0004297	Abnormality of the biliary system	2	LYZ CL E G H	4069	6740	OMIM:105200	Amyloidosis, familial visceral			32
HP:0002012	HP:0025408	Abnormal spleen morphology	2	LYZ CL E G H	4069	6740	OMIM:105200	Amyloidosis, familial visceral			32
HP:0002012	HP:0410042	Abnormal liver morphology	2	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome			4
HP:0002012	HP:0410042	Abnormal liver morphology	2	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0002012	HP:0410042	Abnormal liver morphology	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0002012	HP:0410042	Abnormal liver morphology	2	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus
HP:0002012	HP:0002586	Peritonitis	2	MAGI2 CL E G H	9863	18957	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040284 - Very rare		59
HP:0002012	HP:0410042	Abnormal liver morphology	2	MAGT1 CL E G H	84061	28880	OMIM:301031	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC			17
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN			17
HP:0002012	HP:0410042	Abnormal liver morphology	2	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis			136
HP:0002012	HP:0410042	Abnormal liver morphology	2	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0002012	HP:0410042	Abnormal liver morphology	2	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0002012	HP:0410042	Abnormal liver morphology	2	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0002012	HP:0410042	Abnormal liver morphology	2	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0002012	HP:0004297	Abnormality of the biliary system	2	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	MC1R CL E G H	4157	6929	ORPHA:618	Familial melanoma	HP:0040283 - Occasional		124
HP:0002012	HP:0410042	Abnormal liver morphology	2	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency			81
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0002012	HP:0410042	Abnormal liver morphology	2	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54			69
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54			69
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare		1
HP:0002012	HP:0004297	Abnormality of the biliary system	2	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome			950
HP:0002012	HP:0410042	Abnormal liver morphology	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0002012	HP:0004297	Abnormality of the biliary system	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0002012	HP:0025409	Abnormal spleen physiology	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0002012	HP:0004297	Abnormality of the biliary system	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0002012	HP:0002586	Peritonitis	2	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040283 - Occasional		281
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever			281
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever			281
HP:0002012	HP:0410042	Abnormal liver morphology	2	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0002012	HP:0002586	Peritonitis	2	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0002012	HP:0002586	Peritonitis	2	MEFV CL E G H	4210	6998	OMIM:134610	FAMILIAL MEDITERRANEAN FEVER, AUTOSOMAL DOMINANT			281
HP:0002012	HP:0410042	Abnormal liver morphology	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002012	HP:0002896	Neoplasm of the liver	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome			13
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma			462
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1			462
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1			462
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040282 - Frequent		462
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0002012	HP:0410042	Abnormal liver morphology	2	MET CL E G H	4233	7029	OMIM:114550	Hepatocellular carcinoma			375
HP:0002012	HP:0002896	Neoplasm of the liver	2	MET CL E G H	4233	7029	OMIM:114550	Hepatocellular carcinoma			375
HP:0002012	HP:0410042	Abnormal liver morphology	2	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma			375
HP:0002012	HP:0004297	Abnormality of the biliary system	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	MFN2 CL E G H	9927	16877	ORPHA:2398	Multiple symmetric lipomatosis			203
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	MGMT CL E G H	4255	7059	ORPHA:618	Familial melanoma	HP:0040283 - Occasional		3
HP:0002012	HP:0410042	Abnormal liver morphology	2	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0002012	HP:0004297	Abnormality of the biliary system	2	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0002012	HP:0410042	Abnormal liver morphology	2	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0002012	HP:0410042	Abnormal liver morphology	2	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	MITF CL E G H	4286	7105	ORPHA:618	Familial melanoma	HP:0040283 - Occasional		91
HP:0002012	HP:0410042	Abnormal liver morphology	2	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome			69
HP:0002012	HP:0410042	Abnormal liver morphology	2	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome			127
HP:0002012	HP:0410042	Abnormal liver morphology	2	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome			127
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome			127
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome			127
HP:0002012	HP:0004297	Abnormality of the biliary system	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1819
HP:0002012	HP:0002896	Neoplasm of the liver	2	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome			1819
HP:0002012	HP:0002896	Neoplasm of the liver	2	MLH1 CL E G H	4292	7127	ORPHA:587	Muir-Torre syndrome	HP:0040283 - Occasional		1819
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		131
HP:0002012	HP:0002896	Neoplasm of the liver	2	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome			131
HP:0002012	HP:0004297	Abnormality of the biliary system	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type			113
HP:0002012	HP:0410042	Abnormal liver morphology	2	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type			127
HP:0002012	HP:0004297	Abnormality of the biliary system	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0002012	HP:0410042	Abnormal liver morphology	2	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0002896	Neoplasm of the liver	2	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0004297	Abnormality of the biliary system	2	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0002012	HP:0410042	Abnormal liver morphology	2	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0002012	HP:0410042	Abnormal liver morphology	2	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0002012	HP:0410042	Abnormal liver morphology	2	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MNS1 CL E G H	55329	29636	OMIM:618948	HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0002012	HP:0410042	Abnormal liver morphology	2	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB			37
HP:0002012	HP:0410042	Abnormal liver morphology	2	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0002012	HP:0410042	Abnormal liver morphology	2	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency			6
HP:0002012	HP:0410042	Abnormal liver morphology	2	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib			51
HP:0002012	HP:0410042	Abnormal liver morphology	2	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG			51
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MPIG6B CL E G H	80739	13937	OMIM:617441	Thrombocytopenia, anemia, and myelofibrosis			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia			97
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis			97
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MPL CL E G H	4352	7217	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included			97
HP:0002012	HP:0410042	Abnormal liver morphology	2	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera			97
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera			97
HP:0002012	HP:0410042	Abnormal liver morphology	2	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis			97
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis			97
HP:0002012	HP:0410042	Abnormal liver morphology	2	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE			56
HP:0002012	HP:0410042	Abnormal liver morphology	2	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0002012	HP:0002896	Neoplasm of the liver	2	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0002012	HP:0004297	Abnormality of the biliary system	2	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0002012	HP:0410042	Abnormal liver morphology	2	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	MRE11 CL E G H	4361	7230	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional		532
HP:0002012	HP:0410042	Abnormal liver morphology	2	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0002012	HP:0410042	Abnormal liver morphology	2	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16			13
HP:0002012	HP:0410042	Abnormal liver morphology	2	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0002012	HP:0410042	Abnormal liver morphology	2	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34			12
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency			1
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2162
HP:0002012	HP:0002896	Neoplasm of the liver	2	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome			2162
HP:0002012	HP:0002896	Neoplasm of the liver	2	MSH2 CL E G H	4436	7325	ORPHA:587	Muir-Torre syndrome	HP:0040283 - Occasional		2162
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	MSH6 CL E G H	2956	7329	OMIM:614350	Colorectal cancer, hereditary nonpolyposis, type 5			2232
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2232
HP:0002012	HP:0002896	Neoplasm of the liver	2	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome			2232
HP:0002012	HP:0002896	Neoplasm of the liver	2	MSH6 CL E G H	2956	7329	ORPHA:587	Muir-Torre syndrome	HP:0040283 - Occasional		2232
HP:0002012	HP:0410042	Abnormal liver morphology	2	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0002012	HP:0002896	Neoplasm of the liver	2	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0002012	HP:0004297	Abnormality of the biliary system	2	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0002012	HP:0410042	Abnormal liver morphology	2	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0002012	HP:0410042	Abnormal liver morphology	2	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic			133
HP:0002012	HP:0410042	Abnormal liver morphology	2	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0002012	HP:0410042	Abnormal liver morphology	2	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever			150
HP:0002012	HP:0002586	Peritonitis	2	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040283 - Occasional		150
HP:0002012	HP:0410042	Abnormal liver morphology	2	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria			150
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0002012	HP:0410042	Abnormal liver morphology	2	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4			1143
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0002012	HP:0410042	Abnormal liver morphology	2	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia			9
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia			9
HP:0002012	HP:0002586	Peritonitis	2	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2			418
HP:0002012	HP:0410042	Abnormal liver morphology	2	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0002012	HP:0002586	Peritonitis	2	MYO1E CL E G H	4643	7599	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040284 - Very rare		3
HP:0002012	HP:0410042	Abnormal liver morphology	2	MYO5B CL E G H	4645	7603	OMIM:619868				192
HP:0002012	HP:0004297	Abnormality of the biliary system	2	MYO5B CL E G H	4645	7603	OMIM:619868				192
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MYO5B CL E G H	4645	7603	OMIM:619868				192
HP:0002012	HP:0410042	Abnormal liver morphology	2	MYORG CL E G H	57462	19918	ORPHA:1980	Bilateral striopallidodentate calcinosis
HP:0002012	HP:0410042	Abnormal liver morphology	2	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy			217
HP:0002012	HP:0410042	Abnormal liver morphology	2	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0002012	HP:0025408	Abnormal spleen morphology	2	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0002012	HP:0410042	Abnormal liver morphology	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0002012	HP:0004297	Abnormality of the biliary system	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0002012	HP:0002896	Neoplasm of the liver	2	NAB2 CL E G H	4665	7627	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency			14
HP:0002012	HP:0410042	Abnormal liver morphology	2	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1			47
HP:0002012	HP:0410042	Abnormal liver morphology	2	NAGA CL E G H	4668	7631	ORPHA:79281	Alpha-N-acetylgalactosaminidase deficiency type 3			47
HP:0002012	HP:0410042	Abnormal liver morphology	2	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0002012	HP:0410042	Abnormal liver morphology	2	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency			36
HP:0002012	HP:0004297	Abnormality of the biliary system	2	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2			25
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NBEAL2 CL E G H	23218	31928	OMIM:139090	Gray platelet syndrome			127
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NBEAL2 CL E G H	23218	31928	ORPHA:721	Gray platelet syndrome			127
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	NBN CL E G H	4683	7652	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional		706
HP:0002012	HP:0410042	Abnormal liver morphology	2	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease			13
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease			13
HP:0002012	HP:0410042	Abnormal liver morphology	2	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I			13
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I			13
HP:0002012	HP:0004297	Abnormality of the biliary system	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0002012	HP:0410042	Abnormal liver morphology	2	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease			67
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease			67
HP:0002012	HP:0410042	Abnormal liver morphology	2	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II			67
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II			67
HP:0002012	HP:0410042	Abnormal liver morphology	2	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease			37
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease			37
HP:0002012	HP:0410042	Abnormal liver morphology	2	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0002012	HP:0410042	Abnormal liver morphology	2	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0002012	HP:0410042	Abnormal liver morphology	2	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0410042	Abnormal liver morphology	2	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0002012	HP:0410042	Abnormal liver morphology	2	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0410042	Abnormal liver morphology	2	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0002012	HP:0410042	Abnormal liver morphology	2	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0002012	HP:0410042	Abnormal liver morphology	2	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0002012	HP:0410042	Abnormal liver morphology	2	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0002012	HP:0410042	Abnormal liver morphology	2	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			96
HP:0002012	HP:0410042	Abnormal liver morphology	2	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0002012	HP:0410042	Abnormal liver morphology	2	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0002012	HP:0410042	Abnormal liver morphology	2	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0002012	HP:0410042	Abnormal liver morphology	2	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11			40
HP:0002012	HP:0410042	Abnormal liver morphology	2	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0002012	HP:0410042	Abnormal liver morphology	2	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0002012	HP:0410042	Abnormal liver morphology	2	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0002012	HP:0410042	Abnormal liver morphology	2	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0002012	HP:0410042	Abnormal liver morphology	2	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0002012	HP:0410042	Abnormal liver morphology	2	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0002012	HP:0410042	Abnormal liver morphology	2	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0002012	HP:0410042	Abnormal liver morphology	2	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0002012	HP:0410042	Abnormal liver morphology	2	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0002012	HP:0410042	Abnormal liver morphology	2	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0002012	HP:0410042	Abnormal liver morphology	2	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8			22
HP:0002012	HP:0410042	Abnormal liver morphology	2	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0002012	HP:0410042	Abnormal liver morphology	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0002012	HP:0410042	Abnormal liver morphology	2	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0002012	HP:0410042	Abnormal liver morphology	2	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0002012	HP:0410042	Abnormal liver morphology	2	NDUFS7 CL E G H	374291	7714	OMIM:618224	Mitochondrial complex I deficiency, nuclear type 3			38
HP:0002012	HP:0410042	Abnormal liver morphology	2	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0002012	HP:0410042	Abnormal liver morphology	2	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0002012	HP:0410042	Abnormal liver morphology	2	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0002012	HP:0410042	Abnormal liver morphology	2	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0410042	Abnormal liver morphology	2	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2			43
HP:0002012	HP:0004297	Abnormality of the biliary system	2	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2			43
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2			43
HP:0002012	HP:0003363	Abdominal situs inversus	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional
HP:0002012	HP:0004297	Abnormality of the biliary system	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0002012	HP:0410042	Abnormal liver morphology	2	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0002012	HP:0410042	Abnormal liver morphology	2	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0002012	HP:0410042	Abnormal liver morphology	2	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1			43
HP:0002012	HP:0002896	Neoplasm of the liver	2	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY			32
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY			32
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY			32
HP:0002012	HP:0410042	Abnormal liver morphology	2	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis			5
HP:0002012	HP:0004297	Abnormality of the biliary system	2	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis			5
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency			7
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency			11
HP:0002012	HP:0410042	Abnormal liver morphology	2	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52			5
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52			5
HP:0002012	HP:0410042	Abnormal liver morphology	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0002012	HP:0410042	Abnormal liver morphology	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0002012	HP:0410042	Abnormal liver morphology	2	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0002012	HP:0410042	Abnormal liver morphology	2	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		27
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita			27
HP:0002012	HP:0410042	Abnormal liver morphology	2	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			27
HP:0002012	HP:0410042	Abnormal liver morphology	2	NHP2 CL E G H	55651	14377	OMIM:613987	Dyskeratosis congenita, autosomal recessive, 2			27
HP:0002012	HP:0004297	Abnormality of the biliary system	2	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia			90
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC			30
HP:0002012	HP:0410042	Abnormal liver morphology	2	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK			37
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK			37
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2			99
HP:0002012	HP:0410042	Abnormal liver morphology	2	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome			217
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome			217
HP:0002012	HP:0410042	Abnormal liver morphology	2	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0002012	HP:0410042	Abnormal liver morphology	2	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome			217
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0002012	HP:0003363	Abdominal situs inversus	2	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0002012	HP:0031565	Abdominal situs ambiguus	2	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0002012	HP:0410042	Abnormal liver morphology	2	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		17
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita			17
HP:0002012	HP:0410042	Abnormal liver morphology	2	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1			17
HP:0002012	HP:0410042	Abnormal liver morphology	2	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0002012	HP:0025409	Abnormal spleen physiology	2	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0002012	HP:0004297	Abnormality of the biliary system	2	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2			138
HP:0002012	HP:0410042	Abnormal liver morphology	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	NOTCH3 CL E G H	4854	7883	ORPHA:2591	Infantile myofibromatosis	HP:0040283 - Occasional		144
HP:0002012	HP:0410042	Abnormal liver morphology	2	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1			258
HP:0002012	HP:0004297	Abnormality of the biliary system	2	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1			258
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1			258
HP:0002012	HP:0410042	Abnormal liver morphology	2	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2			33
HP:0002012	HP:0004297	Abnormality of the biliary system	2	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2			33
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2			33
HP:0002012	HP:0410042	Abnormal liver morphology	2	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome			85
HP:0002012	HP:0410042	Abnormal liver morphology	2	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome			85
HP:0002012	HP:0410042	Abnormal liver morphology	2	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0002012	HP:0004297	Abnormality of the biliary system	2	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0002012	HP:0410042	Abnormal liver morphology	2	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3			157
HP:0002012	HP:0410042	Abnormal liver morphology	2	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome			157
HP:0002012	HP:0004297	Abnormality of the biliary system	2	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome			157
HP:0002012	HP:0410042	Abnormal liver morphology	2	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0002012	HP:0004297	Abnormality of the biliary system	2	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0002012	HP:0410042	Abnormal liver morphology	2	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome			157
HP:0002012	HP:0410042	Abnormal liver morphology	2	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome			220
HP:0002012	HP:0002586	Peritonitis	2	NPHS1 CL E G H	4868	7908	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040284 - Very rare		241
HP:0002012	HP:0002586	Peritonitis	2	NPHS2 CL E G H	7827	13394	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040284 - Very rare		69
HP:0002012	HP:0410042	Abnormal liver morphology	2	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		12
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita			12
HP:0002012	HP:0410042	Abnormal liver morphology	2	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5			14
HP:0002012	HP:0004297	Abnormality of the biliary system	2	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5			14
HP:0002012	HP:0004297	Abnormality of the biliary system	2	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy			14
HP:0002012	HP:0410042	Abnormal liver morphology	2	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0002012	HP:0410042	Abnormal liver morphology	2	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic			102
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic			102
HP:0002012	HP:0004297	Abnormality of the biliary system	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0002012	HP:0004297	Abnormality of the biliary system	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0002012	HP:0410042	Abnormal liver morphology	2	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0002012	HP:0003363	Abdominal situs inversus	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		118
HP:0002012	HP:0004297	Abnormality of the biliary system	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0002012	HP:0004297	Abnormality of the biliary system	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0002012	HP:0025408	Abnormal spleen morphology	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0002012	HP:0410042	Abnormal liver morphology	2	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			2
HP:0002012	HP:0410042	Abnormal liver morphology	2	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10			2
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10			2
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3			2
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	NTHL1 CL E G H	4913	8028	ORPHA:454840	NTHL1-related attenuated familial adenomatous polyposis			2
HP:0002012	HP:0410042	Abnormal liver morphology	2	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0002012	HP:0002586	Peritonitis	2	NUP107 CL E G H	57122	29914	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040284 - Very rare		5
HP:0002012	HP:0002586	Peritonitis	2	NUP133 CL E G H	55746	18016	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040284 - Very rare		1
HP:0002012	HP:0002586	Peritonitis	2	NUP160 CL E G H	23279	18017	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040284 - Very rare
HP:0002012	HP:0002586	Peritonitis	2	NUP205 CL E G H	23165	18658	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040284 - Very rare		1
HP:0002012	HP:0002586	Peritonitis	2	NUP37 CL E G H	79023	29929	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040284 - Very rare
HP:0002012	HP:0002586	Peritonitis	2	NUP85 CL E G H	79902	8734	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040284 - Very rare
HP:0002012	HP:0002586	Peritonitis	2	NUP93 CL E G H	9688	28958	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040284 - Very rare		5
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	NUTM1 CL E G H	256646	29919	ORPHA:443167	NUT midline carcinoma
HP:0002012	HP:0025408	Abnormal spleen morphology	2	OAS1 CL E G H	4938	8086	OMIM:618042	Pulmonary alveolar proteinosis with hypogammaglobulinemia			2
HP:0002012	HP:0410042	Abnormal liver morphology	2	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0002012	HP:0004297	Abnormality of the biliary system	2	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0002012	HP:0025408	Abnormal spleen morphology	2	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0410042	Abnormal liver morphology	2	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1			201
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1			201
HP:0002012	HP:0025408	Abnormal spleen morphology	2	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ORAI1 CL E G H	84876	25896	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome			19
HP:0002012	HP:0410042	Abnormal liver morphology	2	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0002012	HP:0025408	Abnormal spleen morphology	2	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0002012	HP:0025408	Abnormal spleen morphology	2	OTC CL E G H	5009	8512	ORPHA:664	Ornithine transcarbamylase deficiency			369
HP:0002012	HP:0410042	Abnormal liver morphology	2	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0002012	HP:0410042	Abnormal liver morphology	2	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma			1349
HP:0002012	HP:0100592	Peritoneal abscess	2	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		1349
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma			1349
HP:0002012	HP:0002896	Neoplasm of the liver	2	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		1349
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma			1349
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma			1349
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma			1349
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	PALB2 CL E G H	79728	26144	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional		1349
HP:0002012	HP:0410042	Abnormal liver morphology	2	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma			192
HP:0002012	HP:0100592	Peritoneal abscess	2	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		192
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma			192
HP:0002012	HP:0002896	Neoplasm of the liver	2	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		192
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma			192
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma			192
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma			192
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	PALLD CL E G H	23022	17068	OMIM:606856	PANCREATIC CANCER, SUSCEPTIBILITY TO, 1			192
HP:0002012	HP:0410042	Abnormal liver morphology	2	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		26
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita			26
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0002012	HP:0002586	Peritonitis	2	PAX2 CL E G H	5076	8616	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040284 - Very rare		39
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	PAX4 CL E G H	5078	8618	OMIM:612227	Diabetes mellitus, ketosis-prone			55
HP:0002012	HP:0002896	Neoplasm of the liver	2	PAX4 CL E G H	5078	8618	ORPHA:552	MODY			55
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	PAX4 CL E G H	5078	8618	ORPHA:552	MODY			55
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	PAX4 CL E G H	5078	8618	ORPHA:552	MODY			55
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia			63
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PAX8 CL E G H	7849	8622	ORPHA:95720	Thyroid hypoplasia			63
HP:0002012	HP:0410042	Abnormal liver morphology	2	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency			118
HP:0002012	HP:0410042	Abnormal liver morphology	2	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia			96
HP:0002012	HP:0410042	Abnormal liver morphology	2	PCCA CL E G H	5095	8653	ORPHA:35	Propionic acidemia			96
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia			96
HP:0002012	HP:0410042	Abnormal liver morphology	2	PCCB CL E G H	5096	8654	ORPHA:35	Propionic acidemia			92
HP:0002012	HP:0410042	Abnormal liver morphology	2	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia			92
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia			92
HP:0002012	HP:0410042	Abnormal liver morphology	2	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic			53
HP:0002012	HP:0410042	Abnormal liver morphology	2	PCK2 CL E G H	5106	8725	OMIM:261650	Phosphoenolpyruvate carboxykinase 2, mitochondrial			6
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency			65
HP:0002012	HP:0410042	Abnormal liver morphology	2	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia			178
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex	HP:0040284 - Very rare		13
HP:0002012	HP:0002896	Neoplasm of the liver	2	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2			13
HP:0002012	HP:0410042	Abnormal liver morphology	2	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0002012	HP:0410042	Abnormal liver morphology	2	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0002012	HP:0410042	Abnormal liver morphology	2	PDGFB CL E G H	5155	8800	ORPHA:1980	Bilateral striopallidodentate calcinosis			9
HP:0002012	HP:0410042	Abnormal liver morphology	2	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic			337
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic			337
HP:0002012	HP:0410042	Abnormal liver morphology	2	PDGFRB CL E G H	5159	8804	ORPHA:1980	Bilateral striopallidodentate calcinosis			28
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	PDGFRB CL E G H	5159	8804	ORPHA:2591	Infantile myofibromatosis	HP:0040283 - Occasional		28
HP:0002012	HP:0410042	Abnormal liver morphology	2	PDGFRL CL E G H	5157	8805	OMIM:114550	Hepatocellular carcinoma			2
HP:0002012	HP:0002896	Neoplasm of the liver	2	PDGFRL CL E G H	5157	8805	OMIM:114550	Hepatocellular carcinoma			2
HP:0002012	HP:0410042	Abnormal liver morphology	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0002012	HP:0002896	Neoplasm of the liver	2	PDX1 CL E G H	3651	6107	ORPHA:552	MODY			30
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	PDX1 CL E G H	3651	6107	ORPHA:552	MODY			30
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	PDX1 CL E G H	3651	6107	ORPHA:552	MODY			30
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital			30
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital			30
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency			66
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease			169
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B			169
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease			75
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)			75
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease			4
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease			65
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)			65
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B			65
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease			66
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease			46
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX14 CL E G H	5195	8856	OMIM:614887	Peroxisome biogenesis disorder 13A (Zellweger)			46
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PEX14 CL E G H	5195	8856	OMIM:614887	Peroxisome biogenesis disorder 13A (Zellweger)			46
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease			59
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)			59
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)			59
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease			62
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease			82
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease			106
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)			106
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)			106
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease			47
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)			47
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease			99
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease			98
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX6 CL E G H	5190	8859	OMIM:614862	Peroxisome biogenesis disorder 4A (Zellweger)			98
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B			98
HP:0002012	HP:0410042	Abnormal liver morphology	2	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease			72
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII			64
HP:0002012	HP:0410042	Abnormal liver morphology	2	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0002012	HP:0031865	Abnormal liver physiology	2	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0002012	HP:0410042	Abnormal liver morphology	2	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0002012	HP:0002896	Neoplasm of the liver	2	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0002012	HP:0410042	Abnormal liver morphology	2	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa			54
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa			54
HP:0002012	HP:0410042	Abnormal liver morphology	2	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0002012	HP:0002896	Neoplasm of the liver	2	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0002012	HP:0410042	Abnormal liver morphology	2	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb			101
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb			101
HP:0002012	HP:0410042	Abnormal liver morphology	2	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0002012	HP:0002896	Neoplasm of the liver	2	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0002012	HP:0410042	Abnormal liver morphology	2	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc			48
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc			48
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc			48
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease			45
HP:0002012	HP:0410042	Abnormal liver morphology	2	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0002012	HP:0100592	Peritoneal abscess	2	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040283 - Occasional		11
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis			36
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis			36
HP:0002012	HP:0410042	Abnormal liver morphology	2	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema			36
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema			36
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema			36
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0002012	HP:0410042	Abnormal liver morphology	2	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0002012	HP:0410042	Abnormal liver morphology	2	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria			46
HP:0002012	HP:0003363	Abdominal situs inversus	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		7
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0002012	HP:0410042	Abnormal liver morphology	2	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency			6
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency			6
HP:0002012	HP:0410042	Abnormal liver morphology	2	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0002012	HP:0410042	Abnormal liver morphology	2	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi			162
HP:0002012	HP:0410042	Abnormal liver morphology	2	PIK3CA CL E G H	5290	8975	OMIM:114550	Hepatocellular carcinoma			162
HP:0002012	HP:0002896	Neoplasm of the liver	2	PIK3CA CL E G H	5290	8975	OMIM:114550	Hepatocellular carcinoma			162
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		162
HP:0002012	HP:0002896	Neoplasm of the liver	2	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome			162
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14			9
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97			2
HP:0002012	HP:0410042	Abnormal liver morphology	2	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia			43
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36			43
HP:0002012	HP:0410042	Abnormal liver morphology	2	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease			342
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease			342
HP:0002012	HP:0410042	Abnormal liver morphology	2	PKD1 CL E G H	5310	9008	OMIM:173900	Polycystic kidneys			342
HP:0002012	HP:0003363	Abdominal situs inversus	2	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal	.		3
HP:0002012	HP:0410042	Abnormal liver morphology	2	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease			106
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease			106
HP:0002012	HP:0410042	Abnormal liver morphology	2	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2			106
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2			106
HP:0002012	HP:0410042	Abnormal liver morphology	2	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0002012	HP:0002896	Neoplasm of the liver	2	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0002012	HP:0025409	Abnormal spleen physiology	2	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0002012	HP:0410042	Abnormal liver morphology	2	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease			563
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease			563
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease			563
HP:0002012	HP:0031865	Abnormal liver physiology	2	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease			563
HP:0002012	HP:0410042	Abnormal liver morphology	2	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease			563
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease			563
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease			563
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency			51
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency			51
HP:0002012	HP:0410042	Abnormal liver morphology	2	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0002012	HP:0410042	Abnormal liver morphology	2	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0002012	HP:0002586	Peritonitis	2	PLCE1 CL E G H	51196	17175	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040284 - Very rare		118
HP:0002012	HP:0410042	Abnormal liver morphology	2	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis			2
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis			2
HP:0002012	HP:0410042	Abnormal liver morphology	2	PLEKHM1 CL E G H	9842	29017	OMIM:618107	OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3			2
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PLEKHM1 CL E G H	9842	29017	OMIM:618107	OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3			2
HP:0002012	HP:0410042	Abnormal liver morphology	2	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4			19
HP:0002012	HP:0410042	Abnormal liver morphology	2	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy			19
HP:0002012	HP:0410042	Abnormal liver morphology	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0002012	HP:0410042	Abnormal liver morphology	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		56
HP:0002012	HP:0002896	Neoplasm of the liver	2	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome			56
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1121
HP:0002012	HP:0002896	Neoplasm of the liver	2	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome			1121
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency			52
HP:0002012	HP:0410042	Abnormal liver morphology	2	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy			65
HP:0002012	HP:0410042	Abnormal liver morphology	2	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0002012	HP:0410042	Abnormal liver morphology	2	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy			65
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy			65
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy			65
HP:0002012	HP:0410042	Abnormal liver morphology	2	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0002012	HP:0410042	Abnormal liver morphology	2	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome			731
HP:0002012	HP:0410042	Abnormal liver morphology	2	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)			464
HP:0002012	HP:0004297	Abnormality of the biliary system	2	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)			464
HP:0002012	HP:0410042	Abnormal liver morphology	2	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0002012	HP:0410042	Abnormal liver morphology	2	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)			45
HP:0002012	HP:0004297	Abnormality of the biliary system	2	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)			45
HP:0002012	HP:0410042	Abnormal liver morphology	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0002012	HP:0004297	Abnormality of the biliary system	2	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency			27
HP:0002012	HP:0004297	Abnormality of the biliary system	2	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair			27
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	POT1 CL E G H	25913	17284	ORPHA:618	Familial melanoma	HP:0040283 - Occasional		23
HP:0002012	HP:0004297	Abnormality of the biliary system	2	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0002012	HP:0004297	Abnormality of the biliary system	2	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1			36
HP:0002012	HP:0410042	Abnormal liver morphology	2	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0002896	Neoplasm of the liver	2	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0004297	Abnormality of the biliary system	2	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0002896	Neoplasm of the liver	2	POU6F2 CL E G H	11281	21694	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		2
HP:0002012	HP:0410042	Abnormal liver morphology	2	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0002012	HP:0410042	Abnormal liver morphology	2	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3			42
HP:0002012	HP:0410042	Abnormal liver morphology	2	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0002012	HP:0002896	Neoplasm of the liver	2	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata			41
HP:0002012	HP:0410042	Abnormal liver morphology	2	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0002012	HP:0410042	Abnormal liver morphology	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0002012	HP:0410042	Abnormal liver morphology	2	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			58
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			58
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			58
HP:0002012	HP:0410042	Abnormal liver morphology	2	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0002012	HP:0410042	Abnormal liver morphology	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002012	HP:0410042	Abnormal liver morphology	2	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex	HP:0040284 - Very rare		134
HP:0002012	HP:0002896	Neoplasm of the liver	2	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma			134
HP:0002012	HP:0410042	Abnormal liver morphology	2	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0002012	HP:0410042	Abnormal liver morphology	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome			10
HP:0002012	HP:0002896	Neoplasm of the liver	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome			10
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome			10
HP:0002012	HP:0025409	Abnormal spleen physiology	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome			10
HP:0002012	HP:0410042	Abnormal liver morphology	2	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency			10
HP:0002012	HP:0410042	Abnormal liver morphology	2	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease			63
HP:0002012	HP:0410042	Abnormal liver morphology	2	PRKCSH CL E G H	5589	9411	OMIM:174050	Polycystic liver disease 1 with or without kidney cysts			63
HP:0002012	HP:0410042	Abnormal liver morphology	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis			51
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis			51
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis			51
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary			51
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary			51
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis			1
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis			1
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis			1
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary			1
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary			1
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0002012	HP:0410042	Abnormal liver morphology	2	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency			81
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency			81
HP:0002012	HP:0410042	Abnormal liver morphology	2	PSAP CL E G H	5660	9498	ORPHA:139406	Encephalopathy due to prosaposin deficiency			81
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PSAP CL E G H	5660	9498	ORPHA:139406	Encephalopathy due to prosaposin deficiency			81
HP:0002012	HP:0410042	Abnormal liver morphology	2	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0002012	HP:0025409	Abnormal spleen physiology	2	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0002012	HP:0410042	Abnormal liver morphology	2	PSMB10 CL E G H	5699	9538	OMIM:619175	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PSMB10 CL E G H	5699	9538	OMIM:619175	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0002012	HP:0410042	Abnormal liver morphology	2	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0002012	HP:0410042	Abnormal liver morphology	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0002012	HP:0410042	Abnormal liver morphology	2	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3
HP:0002012	HP:0410042	Abnormal liver morphology	2	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0002012	HP:0410042	Abnormal liver morphology	2	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	PTEN CL E G H	5728	9588	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional		948
HP:0002012	HP:0410042	Abnormal liver morphology	2	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome			948
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome			948
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome			948
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome			948
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	PTF1A CL E G H	256297	23734	OMIM:615935	Pancreatic agenesis 2			22
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome			22
HP:0002012	HP:0410042	Abnormal liver morphology	2	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0002012	HP:0410042	Abnormal liver morphology	2	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			3
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			3
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PTPN3 CL E G H	5774	9655	ORPHA:70567	Cholangiocarcinoma			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	PTPRC CL E G H	5788	9666	OMIM:619924				25
HP:0002012	HP:0025408	Abnormal spleen morphology	2	PTPRC CL E G H	5788	9666	OMIM:619924				25
HP:0002012	HP:0002586	Peritonitis	2	PTPRO CL E G H	5800	9678	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040284 - Very rare		2
HP:0002012	HP:0410042	Abnormal liver morphology	2	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0002012	HP:0410042	Abnormal liver morphology	2	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0002012	HP:0410042	Abnormal liver morphology	2	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0002012	HP:0410042	Abnormal liver morphology	2	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency			71
HP:0002012	HP:0002896	Neoplasm of the liver	2	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency			71
HP:0002012	HP:0004297	Abnormality of the biliary system	2	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency			71
HP:0002012	HP:0410042	Abnormal liver morphology	2	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI			71
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome			31
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0002012	HP:0410042	Abnormal liver morphology	2	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2			67
HP:0002012	HP:0004297	Abnormality of the biliary system	2	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2			67
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2			67
HP:0002012	HP:0410042	Abnormal liver morphology	2	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2			67
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2			67
HP:0002012	HP:0410042	Abnormal liver morphology	2	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0002012	HP:0100592	Peritoneal abscess	2	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0002012	HP:0002896	Neoplasm of the liver	2	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional
HP:0002012	HP:0004297	Abnormality of the biliary system	2	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	RABL3 CL E G H	285282	18072	OMIM:618680	PANCREATIC CANCER, SUSCEPTIBILITY TO, 5; PNCA5
HP:0002012	HP:0410042	Abnormal liver morphology	2	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B			9
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B			9
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	RAD50 CL E G H	10111	9816	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional		789
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	RAD51 CL E G H	5888	9817	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional		9
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	RAD51C CL E G H	5889	9820	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional		391
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	RAD51D CL E G H	5892	9823	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional		345
HP:0002012	HP:0410042	Abnormal liver morphology	2	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency			127
HP:0002012	HP:0410042	Abnormal liver morphology	2	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome			127
HP:0002012	HP:0410042	Abnormal liver morphology	2	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome			127
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome			127
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome			127
HP:0002012	HP:0410042	Abnormal liver morphology	2	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			127
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			127
HP:0002012	HP:0410042	Abnormal liver morphology	2	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome			50
HP:0002012	HP:0410042	Abnormal liver morphology	2	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome			50
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome			50
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome			50
HP:0002012	HP:0410042	Abnormal liver morphology	2	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			50
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			50
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional		9
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome			9
HP:0002012	HP:0410042	Abnormal liver morphology	2	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0002012	HP:0002896	Neoplasm of the liver	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0002012	HP:0025409	Abnormal spleen physiology	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0002012	HP:0410042	Abnormal liver morphology	2	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0002012	HP:0410042	Abnormal liver morphology	2	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0002012	HP:0004297	Abnormality of the biliary system	2	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0002012	HP:0410042	Abnormal liver morphology	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0002012	HP:0410042	Abnormal liver morphology	2	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome			445
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0002012	HP:0410042	Abnormal liver morphology	2	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92			1
HP:0002012	HP:0004297	Abnormality of the biliary system	2	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92			1
HP:0002012	HP:0002896	Neoplasm of the liver	2	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma	HP:0040284 - Very rare		1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			334
HP:0002012	HP:0410042	Abnormal liver morphology	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0002012	HP:0002896	Neoplasm of the liver	2	REST CL E G H	5978	9966	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		7
HP:0002012	HP:0004297	Abnormality of the biliary system	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0002012	HP:0410042	Abnormal liver morphology	2	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN			92
HP:0002012	HP:0410042	Abnormal liver morphology	2	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG			92
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W
HP:0002012	HP:0410042	Abnormal liver morphology	2	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II			38
HP:0002012	HP:0004297	Abnormality of the biliary system	2	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II			38
HP:0002012	HP:0410042	Abnormal liver morphology	2	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II			38
HP:0002012	HP:0004297	Abnormality of the biliary system	2	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II			38
HP:0002012	HP:0004297	Abnormality of the biliary system	2	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome			28
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome			28
HP:0002012	HP:0410042	Abnormal liver morphology	2	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II			26
HP:0002012	HP:0004297	Abnormality of the biliary system	2	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II			26
HP:0002012	HP:0410042	Abnormal liver morphology	2	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II			26
HP:0002012	HP:0004297	Abnormality of the biliary system	2	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II			26
HP:0002012	HP:0410042	Abnormal liver morphology	2	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II			34
HP:0002012	HP:0004297	Abnormality of the biliary system	2	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II			34
HP:0002012	HP:0410042	Abnormal liver morphology	2	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II			34
HP:0002012	HP:0004297	Abnormality of the biliary system	2	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II			34
HP:0002012	HP:0004297	Abnormality of the biliary system	2	RHAG CL E G H	6005	10006	OMIM:268150	Anemia, hemolytic, Rh-null, Regulator type			13
HP:0002012	HP:0410042	Abnormal liver morphology	2	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis			13
HP:0002012	HP:0004297	Abnormality of the biliary system	2	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis			13
HP:0002012	HP:0004297	Abnormality of the biliary system	2	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis			13
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis			13
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis			13
HP:0002012	HP:0410042	Abnormal liver morphology	2	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome			13
HP:0002012	HP:0004297	Abnormality of the biliary system	2	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome			13
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome			13
HP:0002012	HP:0410042	Abnormal liver morphology	2	RHBDF2 CL E G H	79651	20788	ORPHA:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome			80
HP:0002012	HP:0410042	Abnormal liver morphology	2	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome			8
HP:0002012	HP:0004297	Abnormality of the biliary system	2	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome			8
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome			8
HP:0002012	HP:0410042	Abnormal liver morphology	2	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced			16
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced			16
HP:0002012	HP:0410042	Abnormal liver morphology	2	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome			16
HP:0002012	HP:0004297	Abnormality of the biliary system	2	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome			16
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome			16
HP:0002012	HP:0410042	Abnormal liver morphology	2	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3			99
HP:0002012	HP:0004297	Abnormality of the biliary system	2	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3			99
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3			99
HP:0002012	HP:0410042	Abnormal liver morphology	2	RIPK1 CL E G H	8737	10019	OMIM:618852	AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RIPK1 CL E G H	8737	10019	OMIM:618852	AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0002012	HP:0410042	Abnormal liver morphology	2	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0002012	HP:0410042	Abnormal liver morphology	2	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11			26
HP:0002012	HP:0410042	Abnormal liver morphology	2	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0002012	HP:0410042	Abnormal liver morphology	2	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome			37
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome			37
HP:0002012	HP:0410042	Abnormal liver morphology	2	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0002012	HP:0004297	Abnormality of the biliary system	2	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0002012	HP:0410042	Abnormal liver morphology	2	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4			33
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4			33
HP:0002012	HP:0410042	Abnormal liver morphology	2	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0002012	HP:0004297	Abnormality of the biliary system	2	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0002012	HP:0410042	Abnormal liver morphology	2	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0002012	HP:0004297	Abnormality of the biliary system	2	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0002012	HP:0410042	Abnormal liver morphology	2	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3			60
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3			60
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome			5
HP:0002012	HP:0004297	Abnormality of the biliary system	2	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome			5
HP:0002012	HP:0004297	Abnormality of the biliary system	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0002012	HP:0410042	Abnormal liver morphology	2	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0002012	HP:0410042	Abnormal liver morphology	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0002012	HP:0410042	Abnormal liver morphology	2	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0002012	HP:0004297	Abnormality of the biliary system	2	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0002012	HP:0410042	Abnormal liver morphology	2	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0002012	HP:0410042	Abnormal liver morphology	2	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome			109
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome			109
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome			109
HP:0002012	HP:0004297	Abnormality of the biliary system	2	RPGRIP1L CL E G H	23322	29168	OMIM:619113	COACH SYNDROME 3; COACH3			167
HP:0002012	HP:0410042	Abnormal liver morphology	2	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0002012	HP:0002896	Neoplasm of the liver	2	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		167
HP:0002012	HP:0004297	Abnormality of the biliary system	2	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0002012	HP:0410042	Abnormal liver morphology	2	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome			167
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome			167
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome			167
HP:0002012	HP:0004297	Abnormality of the biliary system	2	RPGRIP1L CL E G H	23322	29168	OMIM:611561	Meckel syndrome, type 5			167
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		1
HP:0002012	HP:0002896	Neoplasm of the liver	2	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RPSA CL E G H	3921	6502	OMIM:271400	Asplenia, isolated congenital			9
HP:0002012	HP:0410042	Abnormal liver morphology	2	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0002012	HP:0410042	Abnormal liver morphology	2	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0002012	HP:0004297	Abnormality of the biliary system	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0002012	HP:0410042	Abnormal liver morphology	2	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0002012	HP:0410042	Abnormal liver morphology	2	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		77
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita			77
HP:0002012	HP:0410042	Abnormal liver morphology	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0002012	HP:0002896	Neoplasm of the liver	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0002012	HP:0410042	Abnormal liver morphology	2	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis			181
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis			181
HP:0002012	HP:0025409	Abnormal spleen physiology	2	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis			181
HP:0002012	HP:0025408	Abnormal spleen morphology	2	RUNX1 CL E G H	861	10471	ORPHA:521	Chronic myeloid leukemia			181
HP:0002012	HP:0410042	Abnormal liver morphology	2	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis			2
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis			2
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome			8
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome			4
HP:0002012	HP:0410042	Abnormal liver morphology	2	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0002012	HP:0410042	Abnormal liver morphology	2	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease			8
HP:0002012	HP:0410042	Abnormal liver morphology	2	SASH3 CL E G H	54440	15975	OMIM:301082				1
HP:0002012	HP:0410042	Abnormal liver morphology	2	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome			26
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome			26
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome			26
HP:0002012	HP:0410042	Abnormal liver morphology	2	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1			26
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1			26
HP:0002012	HP:0410042	Abnormal liver morphology	2	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis			80
HP:0002012	HP:0410042	Abnormal liver morphology	2	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis			80
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0002012	HP:0031865	Abnormal liver physiology	2	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0002012	HP:0031865	Abnormal liver physiology	2	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis			80
HP:0002012	HP:0410042	Abnormal liver morphology	2	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome
HP:0002012	HP:0410042	Abnormal liver morphology	2	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1			77
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1			77
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1			77
HP:0002012	HP:0025409	Abnormal spleen physiology	2	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1			77
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			67
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			61
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			57
HP:0002012	HP:0410042	Abnormal liver morphology	2	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0002012	HP:0410042	Abnormal liver morphology	2	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0002012	HP:0410042	Abnormal liver morphology	2	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome			5
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome			5
HP:0002012	HP:0410042	Abnormal liver morphology	2	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21			5
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21			5
HP:0002012	HP:0410042	Abnormal liver morphology	2	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome			61
HP:0002012	HP:0410042	Abnormal liver morphology	2	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome			61
HP:0002012	HP:0410042	Abnormal liver morphology	2	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0002012	HP:0410042	Abnormal liver morphology	2	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome			129
HP:0002012	HP:0410042	Abnormal liver morphology	2	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II			60
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II			60
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0002012	HP:0410042	Abnormal liver morphology	2	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease			137
HP:0002012	HP:0410042	Abnormal liver morphology	2	SEC63 CL E G H	11231	21082	OMIM:617004	Polycystic liver disease 2			137
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		48
HP:0002012	HP:0002896	Neoplasm of the liver	2	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X			48
HP:0002012	HP:0410042	Abnormal liver morphology	2	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0002012	HP:0002896	Neoplasm of the liver	2	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0002012	HP:0410042	Abnormal liver morphology	2	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency			131
HP:0002012	HP:0410042	Abnormal liver morphology	2	SERPINA1 CL E G H	5265	8941	ORPHA:60	Alpha-1-antitrypsin deficiency			131
HP:0002012	HP:0002896	Neoplasm of the liver	2	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency			131
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SERPINA1 CL E G H	5265	8941	ORPHA:60	Alpha-1-antitrypsin deficiency			131
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency			131
HP:0002012	HP:0410042	Abnormal liver morphology	2	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0002012	HP:0011854	Hemoperitoneum	2	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency	HP:0040284 - Very rare		39
HP:0002012	HP:0002896	Neoplasm of the liver	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0002012	HP:0002896	Neoplasm of the liver	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome			143
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0002012	HP:0410042	Abnormal liver morphology	2	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia			19
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia			19
HP:0002012	HP:0410042	Abnormal liver morphology	2	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic			10
HP:0002012	HP:0410042	Abnormal liver morphology	2	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic			33
HP:0002012	HP:0410042	Abnormal liver morphology	2	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1			4
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia			4
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SH2B3 CL E G H	10019	29605	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included			4
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SH2B3 CL E G H	10019	29605	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1			4
HP:0002012	HP:0410042	Abnormal liver morphology	2	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1			37
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1			37
HP:0002012	HP:0410042	Abnormal liver morphology	2	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency			2
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency			2
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0002012	HP:0410042	Abnormal liver morphology	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0002012	HP:0410042	Abnormal liver morphology	2	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0002012	HP:0002896	Neoplasm of the liver	2	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0002012	HP:0410042	Abnormal liver morphology	2	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0002012	HP:0410042	Abnormal liver morphology	2	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0002012	HP:0002896	Neoplasm of the liver	2	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0002012	HP:0410042	Abnormal liver morphology	2	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SLC10A1 CL E G H	6554	10905	OMIM:619256	HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		145
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	SLC16A1 CL E G H	6566	10922	OMIM:610021	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7			74
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease			78
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease			78
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC20A2 CL E G H	6575	10947	ORPHA:1980	Bilateral striopallidodentate calcinosis			70
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary			207
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC22A5 CL E G H	6584	10969	ORPHA:158	Systemic primary carnitine deficiency			207
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria			28
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II			82
HP:0002012	HP:0002896	Neoplasm of the liver	2	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II			82
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II			82
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset			82
HP:0002012	HP:0002896	Neoplasm of the liver	2	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset			82
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset			82
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset			82
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset			82
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset			82
HP:0002012	HP:0031865	Abnormal liver physiology	2	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset			82
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency			82
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency			82
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency			82
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome			88
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome			88
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly			36
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type			36
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency			40
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency			40
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SLC26A4 CL E G H	5172	8818	ORPHA:95720	Thyroid hypoplasia			274
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0002012	HP:0005200	Retroperitoneal fibrosis	2	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome	HP:0040284 - Very rare		68
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2			255
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects			255
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects			255
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects			255
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome			71
HP:0002012	HP:0002896	Neoplasm of the liver	2	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome			71
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome			42
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome			42
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome			42
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1			42
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II			71
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0002012	HP:0002896	Neoplasm of the liver	2	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib			110
HP:0002012	HP:0002896	Neoplasm of the liver	2	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib			110
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib			110
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib			110
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib			110
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic			110
HP:0002012	HP:0002896	Neoplasm of the liver	2	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic			110
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic			110
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type			55
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type			55
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC40A1 CL E G H	30061	10909	ORPHA:139491	Hemochromatosis type 4			56
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4			56
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SLC4A1 CL E G H	6521	11027	OMIM:185020	CRYOHYDROCYTOSIS			109
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis			109
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis			109
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis			109
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis			109
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis			109
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SLC4A1 CL E G H	6521	11027	OMIM:612653	Spherocytosis, type 4			109
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SLC4A1 CL E G H	6521	11027	OMIM:612653	Spherocytosis, type 4			109
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0002012	HP:0031865	Abnormal liver physiology	2	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis			59
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance			104
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance			104
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance			104
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance			104
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SLCO1B1 CL E G H	10599	10959	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic			52
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SLCO1B1 CL E G H	10599	10959	ORPHA:3111	Rotor syndrome			52
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SLCO1B3 CL E G H	28234	10961	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic			60
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SLCO1B3 CL E G H	28234	10961	ORPHA:3111	Rotor syndrome			60
HP:0002012	HP:0410042	Abnormal liver morphology	2	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis			13
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis			13
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0002012	HP:0410042	Abnormal liver morphology	2	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma			504
HP:0002012	HP:0100592	Peritoneal abscess	2	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		504
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma			504
HP:0002012	HP:0002896	Neoplasm of the liver	2	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		504
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma			504
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma			504
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma			504
HP:0002012	HP:0410042	Abnormal liver morphology	2	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia			504
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia			504
HP:0002012	HP:0410042	Abnormal liver morphology	2	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome			504
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	SMAD4 CL E G H	4089	6770	OMIM:260350	Pancreatic cancer	.		504
HP:0002012	HP:0002896	Neoplasm of the liver	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia			74
HP:0002012	HP:0002896	Neoplasm of the liver	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0002012	HP:0002896	Neoplasm of the liver	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0002012	HP:0002896	Neoplasm of the liver	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0002012	HP:0002896	Neoplasm of the liver	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0002012	HP:0410042	Abnormal liver morphology	2	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B			164
HP:0002012	HP:0002896	Neoplasm of the liver	2	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040284 - Very rare		164
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B			164
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B			164
HP:0002012	HP:0025409	Abnormal spleen physiology	2	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B			164
HP:0002012	HP:0410042	Abnormal liver morphology	2	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0002012	HP:0410042	Abnormal liver morphology	2	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B			164
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B			164
HP:0002012	HP:0410042	Abnormal liver morphology	2	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0002012	HP:0410042	Abnormal liver morphology	2	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8			2
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8			2
HP:0002012	HP:0410042	Abnormal liver morphology	2	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0002012	HP:0410042	Abnormal liver morphology	2	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0002012	HP:0410042	Abnormal liver morphology	2	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD			6
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD			6
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0002012	HP:0410042	Abnormal liver morphology	2	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0002012	HP:0410042	Abnormal liver morphology	2	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0002012	HP:0410042	Abnormal liver morphology	2	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0002012	HP:0410042	Abnormal liver morphology	2	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease			61
HP:0002012	HP:0002896	Neoplasm of the liver	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0002012	HP:0002896	Neoplasm of the liver	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0002012	HP:0410042	Abnormal liver morphology	2	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome			49
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome			49
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome			49
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0002012	HP:0410042	Abnormal liver morphology	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0002012	HP:0410042	Abnormal liver morphology	2	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0002896	Neoplasm of the liver	2	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis			34
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis			34
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis			34
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary			34
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary			34
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	SPINK1 CL E G H	6690	11244	OMIM:608189	Tropical calcific pancreatitis	.		34
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	SPINK1 CL E G H	6690	11244	OMIM:608189	Tropical calcific pancreatitis			34
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	SPINK1 CL E G H	6690	11244	OMIM:608189	Tropical calcific pancreatitis			34
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0002012	HP:0410042	Abnormal liver morphology	2	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0002012	HP:0002896	Neoplasm of the liver	2	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome			3
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis			228
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis			228
HP:0002012	HP:0410042	Abnormal liver morphology	2	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis			228
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis			228
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis			228
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SPTB CL E G H	6710	11274	OMIM:617948	ELLIPTOCYTOSIS 3; EL3			156
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis			156
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis			156
HP:0002012	HP:0410042	Abnormal liver morphology	2	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis			156
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis			156
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis			156
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SPTB CL E G H	6710	11274	OMIM:616649	SPHEROCYTOSIS, TYPE 2; SPH2			156
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SPTB CL E G H	6710	11274	OMIM:616649	SPHEROCYTOSIS, TYPE 2; SPH2			156
HP:0002012	HP:0410042	Abnormal liver morphology	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0002012	HP:0410042	Abnormal liver morphology	2	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0002012	HP:0410042	Abnormal liver morphology	2	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0002012	HP:0410042	Abnormal liver morphology	2	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis			1
HP:0002012	HP:0025409	Abnormal spleen physiology	2	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0002012	HP:0025408	Abnormal spleen morphology	2	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0002012	HP:0410042	Abnormal liver morphology	2	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C			89
HP:0002012	HP:0025408	Abnormal spleen morphology	2	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C			89
HP:0002012	HP:0410042	Abnormal liver morphology	2	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0002012	HP:0025408	Abnormal spleen morphology	2	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0002012	HP:0025408	Abnormal spleen morphology	2	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0002012	HP:0410042	Abnormal liver morphology	2	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			2
HP:0002012	HP:0025408	Abnormal spleen morphology	2	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			2
HP:0002012	HP:0002896	Neoplasm of the liver	2	STAT6 CL E G H	6778	11368	ORPHA:2126	Solitary fibrous tumor/hemangiopericytoma	HP:0040284 - Very rare		1
HP:0002012	HP:0410042	Abnormal liver morphology	2	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome			31
HP:0002012	HP:0025408	Abnormal spleen morphology	2	STIM1 CL E G H	6786	11386	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome			31
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	STK11 CL E G H	6794	11389	OMIM:260350	Pancreatic cancer	.		740
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome			740
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome	.		740
HP:0002012	HP:0004297	Abnormality of the biliary system	2	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome			740
HP:0002012	HP:0004297	Abnormality of the biliary system	2	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome			740
HP:0002012	HP:0025408	Abnormal spleen morphology	2	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2			2
HP:0002012	HP:0410042	Abnormal liver morphology	2	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia			2
HP:0002012	HP:0025408	Abnormal spleen morphology	2	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional		71
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome			71
HP:0002012	HP:0025408	Abnormal spleen morphology	2	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency			14
HP:0002012	HP:0410042	Abnormal liver morphology	2	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			85
HP:0002012	HP:0004297	Abnormality of the biliary system	2	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			85
HP:0002012	HP:0025408	Abnormal spleen morphology	2	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			85
HP:0002012	HP:0410042	Abnormal liver morphology	2	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4			85
HP:0002012	HP:0004297	Abnormality of the biliary system	2	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4			85
HP:0002012	HP:0025408	Abnormal spleen morphology	2	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4			85
HP:0002012	HP:0410042	Abnormal liver morphology	2	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0004297	Abnormality of the biliary system	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0002012	HP:0410042	Abnormal liver morphology	2	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			70
HP:0002012	HP:0004297	Abnormality of the biliary system	2	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			70
HP:0002012	HP:0025408	Abnormal spleen morphology	2	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			70
HP:0002012	HP:0410042	Abnormal liver morphology	2	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5			70
HP:0002012	HP:0025408	Abnormal spleen morphology	2	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5			70
HP:0002012	HP:0410042	Abnormal liver morphology	2	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0002012	HP:0410042	Abnormal liver morphology	2	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency			80
HP:0002012	HP:0410042	Abnormal liver morphology	2	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency			80
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency			80
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency			80
HP:0002012	HP:0004297	Abnormality of the biliary system	2	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0002012	HP:0410042	Abnormal liver morphology	2	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0002012	HP:0410042	Abnormal liver morphology	2	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0002012	HP:0410042	Abnormal liver morphology	2	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency			34
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency			34
HP:0002012	HP:0410042	Abnormal liver morphology	2	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21			28
HP:0002012	HP:0002586	Peritonitis	2	TBC1D8B CL E G H	54885	24715	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040284 - Very rare		1
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0002012	HP:0410042	Abnormal liver morphology	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TBX19 CL E G H	9095	11596	OMIM:201400	Acth deficiency, isolated			57
HP:0002012	HP:0410042	Abnormal liver morphology	2	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency			57
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency			57
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TBXAS1 CL E G H	6916	11609	ORPHA:1802	Ghosal hematodiaphyseal dysplasia			16
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B			2
HP:0002012	HP:0410042	Abnormal liver morphology	2	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia			2
HP:0002012	HP:0410042	Abnormal liver morphology	2	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0002012	HP:0002896	Neoplasm of the liver	2	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0002012	HP:0410042	Abnormal liver morphology	2	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0002012	HP:0410042	Abnormal liver morphology	2	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis			82
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis			82
HP:0002012	HP:0410042	Abnormal liver morphology	2	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0002012	HP:0410042	Abnormal liver morphology	2	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome			45
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome			45
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome			45
HP:0002012	HP:0410042	Abnormal liver morphology	2	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome			76
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome			76
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome			76
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18			31
HP:0002012	HP:0410042	Abnormal liver morphology	2	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome			31
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome			31
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome			31
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder			12
HP:0002012	HP:0410042	Abnormal liver morphology	2	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		48
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita			48
HP:0002012	HP:0410042	Abnormal liver morphology	2	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			48
HP:0002012	HP:0410042	Abnormal liver morphology	2	TERC CL E G H	7012	11727	OMIM:614743	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2			48
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	TERF2IP CL E G H	54386	19246	ORPHA:618	Familial melanoma	HP:0040283 - Occasional
HP:0002012	HP:0410042	Abnormal liver morphology	2	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		238
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita			238
HP:0002012	HP:0410042	Abnormal liver morphology	2	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2			238
HP:0002012	HP:0410042	Abnormal liver morphology	2	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			238
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	TERT CL E G H	7015	11730	ORPHA:618	Familial melanoma	HP:0040283 - Occasional		238
HP:0002012	HP:0410042	Abnormal liver morphology	2	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0002012	HP:0410042	Abnormal liver morphology	2	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic			238
HP:0002012	HP:0410042	Abnormal liver morphology	2	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia			3
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis			3
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis			3
HP:0002012	HP:0025409	Abnormal spleen physiology	2	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis			3
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75			3
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera			3
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis			3
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			3
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)			1
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0002012	HP:0410042	Abnormal liver morphology	2	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3			67
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis			155
HP:0002012	HP:0410042	Abnormal liver morphology	2	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0002012	HP:0410042	Abnormal liver morphology	2	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0002012	HP:0410042	Abnormal liver morphology	2	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		253
HP:0002012	HP:0002896	Neoplasm of the liver	2	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome			253
HP:0002012	HP:0025408	Abnormal spleen morphology	2	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis			23
HP:0002012	HP:0025408	Abnormal spleen morphology	2	THPO CL E G H	7066	11795	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1			23
HP:0002012	HP:0410042	Abnormal liver morphology	2	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		60
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita			60
HP:0002012	HP:0410042	Abnormal liver morphology	2	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1			60
HP:0002012	HP:0410042	Abnormal liver morphology	2	TJP2 CL E G H	9414	11828	OMIM:615878	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4			149
HP:0002012	HP:0002896	Neoplasm of the liver	2	TJP2 CL E G H	9414	11828	OMIM:615878	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4			149
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TJP2 CL E G H	9414	11828	OMIM:615878	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4			149
HP:0002012	HP:0031865	Abnormal liver physiology	2	TJP2 CL E G H	9414	11828	OMIM:615878	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4			149
HP:0002012	HP:0410042	Abnormal liver morphology	2	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0002012	HP:0410042	Abnormal liver morphology	2	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0002012	HP:0410042	Abnormal liver morphology	2	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0002012	HP:0410042	Abnormal liver morphology	2	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome			4
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome			4
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome			4
HP:0002012	HP:0410042	Abnormal liver morphology	2	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0002012	HP:0410042	Abnormal liver morphology	2	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK			24
HP:0002012	HP:0410042	Abnormal liver morphology	2	TMEM199 CL E G H	147007	18085	OMIM:616829	Congenital disorder of glycosylation, type IIP			4
HP:0002012	HP:0410042	Abnormal liver morphology	2	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome			45
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome			45
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome			45
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2			45
HP:0002012	HP:0410042	Abnormal liver morphology	2	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome			33
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome			33
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome			33
HP:0002012	HP:0410042	Abnormal liver morphology	2	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome			82
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome			82
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome			82
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0002012	HP:0410042	Abnormal liver morphology	2	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0002012	HP:0410042	Abnormal liver morphology	2	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6			166
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6			166
HP:0002012	HP:0410042	Abnormal liver morphology	2	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0002012	HP:0002896	Neoplasm of the liver	2	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		166
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0002012	HP:0410042	Abnormal liver morphology	2	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome			166
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome			166
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome			166
HP:0002012	HP:0410042	Abnormal liver morphology	2	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3			166
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3			166
HP:0002012	HP:0410042	Abnormal liver morphology	2	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11			166
HP:0002012	HP:0410042	Abnormal liver morphology	2	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0002012	HP:0410042	Abnormal liver morphology	2	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0002012	HP:0030451	Mesenteric cyst	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TMPRSS6 CL E G H	164656	16517	ORPHA:209981	IRIDA syndrome			65
HP:0002012	HP:0031865	Abnormal liver physiology	2	TMPRSS6 CL E G H	164656	16517	ORPHA:209981	IRIDA syndrome			65
HP:0002012	HP:0410042	Abnormal liver morphology	2	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency			32
HP:0002012	HP:0410042	Abnormal liver morphology	2	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2			32
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2			32
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency			12
HP:0002012	HP:0410042	Abnormal liver morphology	2	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2			12
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2			12
HP:0002012	HP:0410042	Abnormal liver morphology	2	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant			131
HP:0002012	HP:0002586	Peritonitis	2	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040283 - Occasional		131
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome			131
HP:0002012	HP:0410042	Abnormal liver morphology	2	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides
HP:0002012	HP:0410042	Abnormal liver morphology	2	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TNFRSF4 CL E G H	7293	11918	OMIM:615593	Immunodeficiency 16			2
HP:0002012	HP:0410042	Abnormal liver morphology	2	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0002012	HP:0410042	Abnormal liver morphology	2	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0002896	Neoplasm of the liver	2	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0410042	Abnormal liver morphology	2	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy			180
HP:0002012	HP:0410042	Abnormal liver morphology	2	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy			248
HP:0002012	HP:0410042	Abnormal liver morphology	2	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis			71
HP:0002012	HP:0002896	Neoplasm of the liver	2	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis			71
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis			71
HP:0002012	HP:0410042	Abnormal liver morphology	2	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0002012	HP:0410042	Abnormal liver morphology	2	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia			911
HP:0002012	HP:0410042	Abnormal liver morphology	2	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma			911
HP:0002012	HP:0100592	Peritoneal abscess	2	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		911
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma			911
HP:0002012	HP:0002896	Neoplasm of the liver	2	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		911
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma			911
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma			911
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma			911
HP:0002012	HP:0410042	Abnormal liver morphology	2	TP53 CL E G H	7157	11998	OMIM:114550	Hepatocellular carcinoma			911
HP:0002012	HP:0002896	Neoplasm of the liver	2	TP53 CL E G H	7157	11998	OMIM:114550	Hepatocellular carcinoma			911
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	TP53 CL E G H	7157	11998	ORPHA:145	Hereditary breast and ovarian cancer syndrome	HP:0040283 - Occasional		911
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare		911
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome	.		911
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	TP53 CL E G H	7157	11998	OMIM:260350	Pancreatic cancer	.		911
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis			92
HP:0002012	HP:0410042	Abnormal liver morphology	2	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0002012	HP:0410042	Abnormal liver morphology	2	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome			6
HP:0002012	HP:0410042	Abnormal liver morphology	2	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9			6
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9			6
HP:0002012	HP:0410042	Abnormal liver morphology	2	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis			4
HP:0002012	HP:0410042	Abnormal liver morphology	2	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18			27
HP:0002012	HP:0410042	Abnormal liver morphology	2	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18			27
HP:0002012	HP:0410042	Abnormal liver morphology	2	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0002012	HP:0410042	Abnormal liver morphology	2	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0002012	HP:0410042	Abnormal liver morphology	2	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations			56
HP:0002012	HP:0410042	Abnormal liver morphology	2	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy			56
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome			2
HP:0002012	HP:0002896	Neoplasm of the liver	2	TRIM28 CL E G H	10155	16384	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		2
HP:0002012	HP:0410042	Abnormal liver morphology	2	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome			108
HP:0002012	HP:0410042	Abnormal liver morphology	2	TRIM37 CL E G H	4591	7523	ORPHA:2576	Mulibrey nanism			78
HP:0002012	HP:0410042	Abnormal liver morphology	2	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0002012	HP:0002896	Neoplasm of the liver	2	TRIP13 CL E G H	9319	12307	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		2
HP:0002012	HP:0410042	Abnormal liver morphology	2	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0002012	HP:0410042	Abnormal liver morphology	2	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient			101
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient			101
HP:0002012	HP:0410042	Abnormal liver morphology	2	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency			101
HP:0002012	HP:0410042	Abnormal liver morphology	2	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0002012	HP:0410042	Abnormal liver morphology	2	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0002012	HP:0410042	Abnormal liver morphology	2	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0410042	Abnormal liver morphology	2	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0002012	HP:0410042	Abnormal liver morphology	2	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0002012	HP:0410042	Abnormal liver morphology	2	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0002012	HP:0410042	Abnormal liver morphology	2	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002012	HP:0002586	Peritonitis	2	TRPC6 CL E G H	7225	12338	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040284 - Very rare		107
HP:0002012	HP:0410042	Abnormal liver morphology	2	TRPV6 CL E G H	55503	14006	ORPHA:417	Neonatal severe primary hyperparathyroidism			4
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TRPV6 CL E G H	55503	14006	ORPHA:417	Neonatal severe primary hyperparathyroidism			4
HP:0002012	HP:0410042	Abnormal liver morphology	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0002012	HP:0410042	Abnormal liver morphology	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0002012	HP:0410042	Abnormal liver morphology	2	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3			43
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency			9
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations			97
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TSHR CL E G H	7253	12373	ORPHA:95720	Thyroid hypoplasia			97
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0410042	Abnormal liver morphology	2	TTC21B CL E G H	79809	25660	OMIM:613819	Short-Rib thoracic dysplasia 4 with or without polydactyly			132
HP:0002012	HP:0410042	Abnormal liver morphology	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002012	HP:0410042	Abnormal liver morphology	2	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0002012	HP:0100592	Peritoneal abscess	2	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040283 - Occasional		26
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0002012	HP:0410042	Abnormal liver morphology	2	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome			26
HP:0002012	HP:0410042	Abnormal liver morphology	2	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome			41
HP:0002012	HP:0410042	Abnormal liver morphology	2	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4			55
HP:0002012	HP:0410042	Abnormal liver morphology	2	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0002012	HP:0002896	Neoplasm of the liver	2	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0002012	HP:0004297	Abnormality of the biliary system	2	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0002012	HP:0025409	Abnormal spleen physiology	2	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0002012	HP:0410042	Abnormal liver morphology	2	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0002012	HP:0410042	Abnormal liver morphology	2	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome			2
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome			2
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome			2
HP:0002012	HP:0410042	Abnormal liver morphology	2	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0002012	HP:0410042	Abnormal liver morphology	2	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0002012	HP:0410042	Abnormal liver morphology	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0002012	HP:0004297	Abnormality of the biliary system	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome			25
HP:0002012	HP:0410042	Abnormal liver morphology	2	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency			15
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency			15
HP:0002012	HP:0004297	Abnormality of the biliary system	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0002012	HP:0025408	Abnormal spleen morphology	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0002012	HP:0004297	Abnormality of the biliary system	2	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1			73
HP:0002012	HP:0004297	Abnormality of the biliary system	2	UGT1A1 CL E G H	54658	12530	ORPHA:79235	Crigler-Najjar syndrome type 2			73
HP:0002012	HP:0004297	Abnormality of the biliary system	2	UGT1A1 CL E G H	54658	12530	OMIM:218800	Crigler-Najjar syndrome, type I			73
HP:0002012	HP:0004297	Abnormality of the biliary system	2	UGT1A1 CL E G H	54658	12530	OMIM:606785	Crigler-najjar syndrome, type II			73
HP:0002012	HP:0004297	Abnormality of the biliary system	2	UGT1A1 CL E G H	54658	12530	OMIM:237900	Hyperbilirubinemia, familial transient neonatal			73
HP:0002012	HP:0025408	Abnormal spleen morphology	2	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria			135
HP:0002012	HP:0410042	Abnormal liver morphology	2	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			116
HP:0002012	HP:0004297	Abnormality of the biliary system	2	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			116
HP:0002012	HP:0025408	Abnormal spleen morphology	2	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			116
HP:0002012	HP:0410042	Abnormal liver morphology	2	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3			116
HP:0002012	HP:0025408	Abnormal spleen morphology	2	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3			116
HP:0002012	HP:0410042	Abnormal liver morphology	2	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0002012	HP:0004297	Abnormality of the biliary system	2	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0002012	HP:0410042	Abnormal liver morphology	2	UQCRB CL E G H	7381	12582	OMIM:615158	Mitochondrial complex III deficiency, nuclear type 3			13
HP:0002012	HP:0004297	Abnormality of the biliary system	2	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0002012	HP:0025408	Abnormal spleen morphology	2	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0002012	HP:0410042	Abnormal liver morphology	2	UROD CL E G H	7389	12591	OMIM:176100	Porphyria cutanea tarda			31
HP:0002012	HP:0002896	Neoplasm of the liver	2	UROD CL E G H	7389	12591	OMIM:176100	Porphyria cutanea tarda			31
HP:0002012	HP:0025408	Abnormal spleen morphology	2	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0002012	HP:0004297	Abnormality of the biliary system	2	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0002012	HP:0025408	Abnormal spleen morphology	2	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0002012	HP:0410042	Abnormal liver morphology	2	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		8
HP:0002012	HP:0025408	Abnormal spleen morphology	2	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita			8
HP:0002012	HP:0025408	Abnormal spleen morphology	2	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0002012	HP:0410042	Abnormal liver morphology	2	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2			2
HP:0002012	HP:0410042	Abnormal liver morphology	2	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0002012	HP:0004297	Abnormality of the biliary system	2	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0002012	HP:0025408	Abnormal spleen morphology	2	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0002012	HP:0004297	Abnormality of the biliary system	2	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0002012	HP:0410042	Abnormal liver morphology	2	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			63
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040284 - Very rare		490
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome	.		490
HP:0002012	HP:0002896	Neoplasm of the liver	2	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome			490
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome			490
HP:0002012	HP:0410042	Abnormal liver morphology	2	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0002012	HP:0004297	Abnormality of the biliary system	2	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0002012	HP:0410042	Abnormal liver morphology	2	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0002012	HP:0025408	Abnormal spleen morphology	2	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0002012	HP:0410042	Abnormal liver morphology	2	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0002012	HP:0025408	Abnormal spleen morphology	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0002012	HP:0410042	Abnormal liver morphology	2	VPS33B CL E G H	26276	12712	OMIM:620010				63
HP:0002012	HP:0004297	Abnormality of the biliary system	2	VPS33B CL E G H	26276	12712	OMIM:620010				63
HP:0002012	HP:0025408	Abnormal spleen morphology	2	VPS33B CL E G H	26276	12712	OMIM:620010				63
HP:0002012	HP:0410042	Abnormal liver morphology	2	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0002012	HP:0004297	Abnormality of the biliary system	2	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0002012	HP:0004297	Abnormality of the biliary system	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0002012	HP:0410042	Abnormal liver morphology	2	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive			7
HP:0002012	HP:0025408	Abnormal spleen morphology	2	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive			7
HP:0002012	HP:0410042	Abnormal liver morphology	2	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0002012	HP:0004297	Abnormality of the biliary system	2	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0002012	HP:0004297	Abnormality of the biliary system	2	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0002012	HP:0031865	Abnormal liver physiology	2	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0002012	HP:0410042	Abnormal liver morphology	2	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome			60
HP:0002012	HP:0025408	Abnormal spleen morphology	2	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0002012	HP:0410042	Abnormal liver morphology	2	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13			95
HP:0002012	HP:0004297	Abnormality of the biliary system	2	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13			95
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13			95
HP:0002012	HP:0410042	Abnormal liver morphology	2	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome			95
HP:0002012	HP:0410042	Abnormal liver morphology	2	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8			95
HP:0002012	HP:0004297	Abnormality of the biliary system	2	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8			95
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8			95
HP:0002012	HP:0410042	Abnormal liver morphology	2	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly			95
HP:0002012	HP:0410042	Abnormal liver morphology	2	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0002012	HP:0004297	Abnormality of the biliary system	2	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0002012	HP:0025408	Abnormal spleen morphology	2	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0002012	HP:0410042	Abnormal liver morphology	2	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			136
HP:0002012	HP:0410042	Abnormal liver morphology	2	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly			136
HP:0002012	HP:0025408	Abnormal spleen morphology	2	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive			12
HP:0002012	HP:0410042	Abnormal liver morphology	2	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		40
HP:0002012	HP:0025408	Abnormal spleen morphology	2	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita			40
HP:0002012	HP:0410042	Abnormal liver morphology	2	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor			177
HP:0002012	HP:0002894	Neoplasm of the pancreas	2	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040283 - Occasional		177
HP:0002012	HP:0002586	Peritonitis	2	WT1 CL E G H	7490	12796	ORPHA:656	Genetic steroid-resistant nephrotic syndrome	HP:0040284 - Very rare		177
HP:0002012	HP:0025408	Abnormal spleen morphology	2	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0002012	HP:0002896	Neoplasm of the liver	2	WT1 CL E G H	7490	12796	ORPHA:654	Nephroblastoma	HP:0040283 - Occasional		177
HP:0002012	HP:0410042	Abnormal liver morphology	2	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1			81
HP:0002012	HP:0025408	Abnormal spleen morphology	2	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1			81
HP:0002012	HP:0410042	Abnormal liver morphology	2	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2			81
HP:0002012	HP:0025408	Abnormal spleen morphology	2	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2			81
HP:0002012	HP:0410042	Abnormal liver morphology	2	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome			8
HP:0002012	HP:0025408	Abnormal spleen morphology	2	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome			8
HP:0002012	HP:0012090	Abnormal pancreas morphology	2	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1			109
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1			109
HP:0002012	HP:0410042	Abnormal liver morphology	2	XPR1 CL E G H	9213	12827	ORPHA:1980	Bilateral striopallidodentate calcinosis			4
HP:0002012	HP:0410042	Abnormal liver morphology	2	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome			9
HP:0002012	HP:0410042	Abnormal liver morphology	2	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			9
HP:0002012	HP:0410042	Abnormal liver morphology	2	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG			14
HP:0002012	HP:0410042	Abnormal liver morphology	2	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002012	HP:0004297	Abnormality of the biliary system	2	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002012	HP:0025408	Abnormal spleen morphology	2	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002012	HP:0410042	Abnormal liver morphology	2	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2			45
HP:0002012	HP:0012091	Abnormality of pancreas physiology	2	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma			7
HP:0002012	HP:0410042	Abnormal liver morphology	2	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency			46
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency			46
HP:0002012	HP:0410042	Abnormal liver morphology	2	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT			46
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT			46
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0002012	HP:0002896	Neoplasm of the liver	2	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma	HP:0040284 - Very rare
HP:0002012	HP:0410042	Abnormal liver morphology	2	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0002012	HP:0031865	Abnormal liver physiology	2	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0002012	HP:0410042	Abnormal liver morphology	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0002012	HP:0003363	Abdominal situs inversus	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0002012	HP:0410042	Abnormal liver morphology	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0002012	HP:0004297	Abnormality of the biliary system	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0002012	HP:0410042	Abnormal liver morphology	2	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0002012	HP:0025408	Abnormal spleen morphology	2	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0002012	HP:0410042	Abnormal liver morphology	2	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0002012	HP:0005232	Pancreatic dysplasia	3	CL E G H
HP:0002012	HP:0005237	Degenerative liver disease	3	CL E G H
HP:0002012	HP:0006273	Pancreatic lymphangiectasis	3	CL E G H
HP:0002012	HP:0006278	Ectopic pancreatic tissue	3	CL E G H
HP:0002012	HP:0011955	Hepatic granulomatosis	3	CL E G H
HP:0002012	HP:0025059	Splenic abscess	3	CL E G H
HP:0002012	HP:0025079	Pancreatic abscess	3	CL E G H
HP:0002012	HP:0025410	Splenogonadal fusion	3	CL E G H
HP:0002012	HP:0030452	Chylolymphatic mesenteric cyst	3	CL E G H
HP:0002012	HP:0030722	Ectopic liver	3	CL E G H
HP:0002012	HP:0030994	Pancreas divisum	3	CL E G H
HP:0002012	HP:0033135	Hepatic infarction	3	CL E G H
HP:0002012	HP:0033757	Pancreatic steatosis	3	CL E G H
HP:0002012	HP:0034181	Aplasia/Hypoplasia of the liver	3	CL E G H
HP:0002012	HP:0034493	Tubo-ovarian abscess	3	CL E G H
HP:0002012	HP:0034498	Hepatic focal nodular hyperplasia	3	CL E G H
HP:0002012	HP:0034514	Liver hamartoma	3	CL E G H
HP:0002012	HP:0100844	Pancreatic fistula	3	CL E G H
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	AAGAB CL E G H	79719	25662	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040284 - Very rare		7
HP:0002012	HP:0001744	Splenomegaly	3	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease			191
HP:0002012	HP:0001744	Splenomegaly	3	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	.		191
HP:0002012	HP:0002240	Hepatomegaly	3	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease			191
HP:0002012	HP:0002240	Hepatomegaly	3	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	.		191
HP:0002012	HP:0001396	Cholestasis	3	ABCB11 CL E G H	8647	42	OMIM:605479	Cholestasis, benign recurrent intrahepatic, 2			146
HP:0002012	HP:0001406	Intrahepatic cholestasis	3	ABCB11 CL E G H	8647	42	OMIM:605479	Cholestasis, benign recurrent intrahepatic, 2	HP:0040283 - Occasional		146
HP:0002012	HP:0002240	Hepatomegaly	3	ABCB11 CL E G H	8647	42	OMIM:605479	Cholestasis, benign recurrent intrahepatic, 2	.		146
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	ABCB11 CL E G H	8647	42	OMIM:605479	Cholestasis, benign recurrent intrahepatic, 2			146
HP:0002012	HP:0001394	Cirrhosis	3	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2	.		146
HP:0002012	HP:0001396	Cholestasis	3	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2			146
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2	.		146
HP:0002012	HP:0001406	Intrahepatic cholestasis	3	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2	.		146
HP:0002012	HP:0001744	Splenomegaly	3	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2	.		146
HP:0002012	HP:0002240	Hepatomegaly	3	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2	.		146
HP:0002012	HP:0001396	Cholestasis	3	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy			146
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy			146
HP:0002012	HP:0001396	Cholestasis	3	ABCB4 CL E G H	5244	45	OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3			111
HP:0002012	HP:0001406	Intrahepatic cholestasis	3	ABCB4 CL E G H	5244	45	OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3	.		111
HP:0002012	HP:0001080	Biliary tract abnormality	3	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3			111
HP:0002012	HP:0001394	Cirrhosis	3	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3	.		111
HP:0002012	HP:0001396	Cholestasis	3	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3			111
HP:0002012	HP:0001406	Intrahepatic cholestasis	3	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3	.		111
HP:0002012	HP:0001744	Splenomegaly	3	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3	.		111
HP:0002012	HP:0002240	Hepatomegaly	3	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3	.		111
HP:0002012	HP:0006580	Portal fibrosis	3	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3	.		111
HP:0002012	HP:0033196	Portal inflammation	3	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1			111
HP:0002012	HP:0001080	Biliary tract abnormality	3	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1			111
HP:0002012	HP:0001395	Hepatic fibrosis	3	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1	.		111
HP:0002012	HP:0001396	Cholestasis	3	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1			111
HP:0002012	HP:0001733	Pancreatitis	3	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1	.		111
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1			111
HP:0002012	HP:0001396	Cholestasis	3	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy			111
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy			111
HP:0002012	HP:0001080	Biliary tract abnormality	3	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis			111
HP:0002012	HP:0001396	Cholestasis	3	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis			111
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040283 - Occasional		111
HP:0002012	HP:0001406	Intrahepatic cholestasis	3	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040281 - Very frequent		111
HP:0002012	HP:0001733	Pancreatitis	3	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040283 - Occasional		111
HP:0002012	HP:0100523	Liver abscess	3	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040284 - Very rare		111
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis			111
HP:0002012	HP:0001080	Biliary tract abnormality	3	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome	HP:0040281 - Very frequent		119
HP:0002012	HP:0001080	Biliary tract abnormality	3	ABCC2 CL E G H	1244	53	OMIM:237500	DUBIN-JOHNSON syndrome	.		119
HP:0002012	HP:0001396	Cholestasis	3	ABCC2 CL E G H	1244	53	OMIM:237500	DUBIN-JOHNSON syndrome			119
HP:0002012	HP:0001396	Cholestasis	3	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome			119
HP:0002012	HP:0002240	Hepatomegaly	3	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome	HP:0040283 - Occasional		119
HP:0002012	HP:0005213	Pancreatic calcification	3	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		415
HP:0002012	HP:0006559	Hepatic calcification	3	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040281 - Very frequent		415
HP:0002012	HP:0002240	Hepatomegaly	3	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040283 - Occasional		245
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency			245
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1			245
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0002012	HP:0012094	Abnormal pancreas size	3	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0002012	HP:0012028	Hepatocellular adenoma	3	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040284 - Very rare		245
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	ABCC8 CL E G H	6833	59	ORPHA:552	MODY			245
HP:0002012	HP:0012094	Abnormal pancreas size	3	ABCC8 CL E G H	6833	59	ORPHA:552	MODY			245
HP:0002012	HP:0001395	Hepatic fibrosis	3	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5			5
HP:0002012	HP:0001396	Cholestasis	3	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5			5
HP:0002012	HP:0001744	Splenomegaly	3	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5			5
HP:0002012	HP:0002240	Hepatomegaly	3	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5			5
HP:0002012	HP:0006580	Portal fibrosis	3	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5			5
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5			5
HP:0002012	HP:0031137	Storage in hepatocytes	3	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia			67
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	ABCG8 CL E G H	64241	13887	OMIM:611465	GALLBLADDER DISEASE 4; GBD4			76
HP:0002012	HP:0031137	Storage in hepatocytes	3	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia			76
HP:0002012	HP:0001744	Splenomegaly	3	ABCG8 CL E G H	64241	13887	OMIM:210250	Sitosterolemia 1	.		76
HP:0002012	HP:0002240	Hepatomegaly	3	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome	.		90
HP:0002012	HP:0031137	Storage in hepatocytes	3	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome			90
HP:0002012	HP:0001394	Cirrhosis	3	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0002012	HP:0002240	Hepatomegaly	3	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent		90
HP:0002012	HP:0031137	Storage in hepatocytes	3	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0002012	HP:0001744	Splenomegaly	3	ABL1 CL E G H	25	76	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent		51
HP:0002012	HP:0031137	Storage in hepatocytes	3	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency			98
HP:0002012	HP:0031137	Storage in hepatocytes	3	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency			98
HP:0002012	HP:0002240	Hepatomegaly	3	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of	.		197
HP:0002012	HP:0031137	Storage in hepatocytes	3	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of			197
HP:0002012	HP:0002240	Hepatomegaly	3	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent		197
HP:0002012	HP:0031137	Storage in hepatocytes	3	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0002012	HP:0031137	Storage in hepatocytes	3	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency			90
HP:0002012	HP:0001396	Cholestasis	3	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0002012	HP:0002240	Hepatomegaly	3	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		200
HP:0002012	HP:0001395	Hepatic fibrosis	3	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0002012	HP:0002240	Hepatomegaly	3	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0002012	HP:0002605	Hepatic necrosis	3	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0002012	HP:0031137	Storage in hepatocytes	3	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0002012	HP:0002240	Hepatomegaly	3	ACAT1 CL E G H	38	93	ORPHA:134	Beta-ketothiolase deficiency	HP:0040283 - Occasional		91
HP:0002012	HP:0002240	Hepatomegaly	3	ACOX1 CL E G H	51	119	ORPHA:2971	Peroxisomal acyl-CoA oxidase deficiency	HP:0040282 - Frequent		120
HP:0002012	HP:0002240	Hepatomegaly	3	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.		120
HP:0002012	HP:0031137	Storage in hepatocytes	3	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0002012	HP:0012115	Hepatitis	3	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional		16
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5			23
HP:0002012	HP:0001733	Pancreatitis	3	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1	HP:0040283 - Occasional		23
HP:0002012	HP:0034188	Midline liver	3	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal			161
HP:0002012	HP:0009799	Supernumerary spleens	3	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal			161
HP:0002012	HP:0010452	Ectopia of the spleen	3	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal	.		161
HP:0002012	HP:0001394	Cirrhosis	3	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		178
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia			178
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia			178
HP:0002012	HP:0001394	Cirrhosis	3	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.		178
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2			178
HP:0002012	HP:0001744	Splenomegaly	3	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		75
HP:0002012	HP:0002240	Hepatomegaly	3	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		75
HP:0002012	HP:0001744	Splenomegaly	3	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:0002012	HP:0002240	Hepatomegaly	3	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:0002012	HP:0001744	Splenomegaly	3	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0002012	HP:0002240	Hepatomegaly	3	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0002012	HP:0001396	Cholestasis	3	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary			129
HP:0002012	HP:0001744	Splenomegaly	3	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040282 - Frequent		1
HP:0002012	HP:0002240	Hepatomegaly	3	ADAMTSL2 CL E G H	9719	14631	OMIM:231050	Geleophysic dysplasia 1	.		72
HP:0002012	HP:0001396	Cholestasis	3	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0002012	HP:0001744	Splenomegaly	3	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0002012	HP:0002240	Hepatomegaly	3	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0002012	HP:0001744	Splenomegaly	3	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0002012	HP:0002240	Hepatomegaly	3	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0002012	HP:0001396	Cholestasis	3	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	.		26
HP:0002012	HP:0006580	Portal fibrosis	3	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	.		26
HP:0002012	HP:0031137	Storage in hepatocytes	3	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0002012	HP:0001744	Splenomegaly	3	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0002012	HP:0001744	Splenomegaly	3	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040283 - Occasional		76
HP:0002012	HP:0002240	Hepatomegaly	3	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.		76
HP:0002012	HP:0002240	Hepatomegaly	3	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040283 - Occasional		76
HP:0002012	HP:0002240	Hepatomegaly	3	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040283 - Occasional		1
HP:0002012	HP:0001395	Hepatic fibrosis	3	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III	.		216
HP:0002012	HP:0002240	Hepatomegaly	3	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III	.		216
HP:0002012	HP:0001394	Cirrhosis	3	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		85
HP:0002012	HP:0002240	Hepatomegaly	3	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent		85
HP:0002012	HP:0031137	Storage in hepatocytes	3	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0002012	HP:0001394	Cirrhosis	3	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.		85
HP:0002012	HP:0001733	Pancreatitis	3	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0002012	HP:0001744	Splenomegaly	3	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.		85
HP:0002012	HP:0002240	Hepatomegaly	3	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.		85
HP:0002012	HP:0031137	Storage in hepatocytes	3	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040283 - Occasional		31
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0002012	HP:0012115	Hepatitis	3	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0002012	HP:0001396	Cholestasis	3	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2			62
HP:0002012	HP:0001406	Intrahepatic cholestasis	3	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2	.		62
HP:0002012	HP:0001744	Splenomegaly	3	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2	.		62
HP:0002012	HP:0002240	Hepatomegaly	3	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2	.		62
HP:0002012	HP:0001080	Biliary tract abnormality	3	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2	HP:0040281 - Very frequent		62
HP:0002012	HP:0001396	Cholestasis	3	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2			62
HP:0002012	HP:0002240	Hepatomegaly	3	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2	HP:0040281 - Very frequent		62
HP:0002012	HP:0012115	Hepatitis	3	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2			62
HP:0002012	HP:0031137	Storage in hepatocytes	3	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2			62
HP:0002012	HP:0001744	Splenomegaly	3	AKT1 CL E G H	207	391	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		54
HP:0002012	HP:0001744	Splenomegaly	3	AKT1 CL E G H	207	391	OMIM:176920	Proteus syndrome, somatic	.		54
HP:0002012	HP:0002240	Hepatomegaly	3	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy	HP:0040281 - Very frequent		12
HP:0002012	HP:0031137	Storage in hepatocytes	3	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy			12
HP:0002012	HP:0500030	Abnormal hepatic glycogen storage	3	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy			12
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	ALAS2 CL E G H	212	397	OMIM:300752	Protoporphyria, erythropoietic, X-linked			72
HP:0002012	HP:0001744	Splenomegaly	3	ALAS2 CL E G H	212	397	ORPHA:75563	X-linked sideroblastic anemia	HP:0040283 - Occasional		72
HP:0002012	HP:0002240	Hepatomegaly	3	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0002012	HP:0001396	Cholestasis	3	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0002012	HP:0001744	Splenomegaly	3	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII	.		50
HP:0002012	HP:0002240	Hepatomegaly	3	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0002012	HP:0001394	Cirrhosis	3	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.		73
HP:0002012	HP:0001396	Cholestasis	3	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary			73
HP:0002012	HP:0002240	Hepatomegaly	3	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.		73
HP:0002012	HP:0031137	Storage in hepatocytes	3	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary			73
HP:0002012	HP:0001396	Cholestasis	3	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance			73
HP:0002012	HP:0002240	Hepatomegaly	3	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040283 - Occasional		73
HP:0002012	HP:0001744	Splenomegaly	3	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik	.		58
HP:0002012	HP:0002240	Hepatomegaly	3	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik	.		58
HP:0002012	HP:0002240	Hepatomegaly	3	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36	.		96
HP:0002012	HP:0002240	Hepatomegaly	3	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG	HP:0040283 - Occasional		46
HP:0002012	HP:0002240	Hepatomegaly	3	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii	.		46
HP:0002012	HP:0001737	Pancreatic cysts	3	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional
HP:0002012	HP:0006706	Cystic liver disease	3	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0002012	HP:0001396	Cholestasis	3	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG			66
HP:0002012	HP:0001396	Cholestasis	3	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.		46
HP:0002012	HP:0002240	Hepatomegaly	3	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.		46
HP:0002012	HP:0006706	Cystic liver disease	3	ALG8 CL E G H	79053	23161	OMIM:617874	POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS; PCLD3			46
HP:0002012	HP:0001395	Hepatic fibrosis	3	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0002012	HP:0002240	Hepatomegaly	3	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040282 - Frequent		93
HP:0002012	HP:0006706	Cystic liver disease	3	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0002012	HP:0001737	Pancreatic cysts	3	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional		93
HP:0002012	HP:0006706	Cystic liver disease	3	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease			93
HP:0002012	HP:0001744	Splenomegaly	3	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0002012	HP:0002240	Hepatomegaly	3	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il	.		93
HP:0002012	HP:0001395	Hepatic fibrosis	3	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0002012	HP:0001394	Cirrhosis	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0002012	HP:0001395	Hepatic fibrosis	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0002012	HP:0001733	Pancreatitis	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040284 - Very rare		404
HP:0002012	HP:0001744	Splenomegaly	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0002012	HP:0002240	Hepatomegaly	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0002012	HP:0012115	Hepatitis	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0002012	HP:0031137	Storage in hepatocytes	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0002012	HP:0002240	Hepatomegaly	3	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0002012	HP:0012115	Hepatitis	3	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0002012	HP:0031137	Storage in hepatocytes	3	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0002012	HP:0001744	Splenomegaly	3	ALPK1 CL E G H	80216	20917	OMIM:614979	Splenomegaly, cytopenia, and vision loss	.
HP:0002012	HP:0001396	Cholestasis	3	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4			44
HP:0002012	HP:0001406	Intrahepatic cholestasis	3	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4	.		44
HP:0002012	HP:0002240	Hepatomegaly	3	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4	.		44
HP:0002012	HP:0012115	Hepatitis	3	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4			44
HP:0002012	HP:0001396	Cholestasis	3	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4	HP:0040282 - Frequent		44
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4			44
HP:0002012	HP:0012115	Hepatitis	3	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4			44
HP:0002012	HP:0001744	Splenomegaly	3	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040283 - Occasional		150
HP:0002012	HP:0001396	Cholestasis	3	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis			150
HP:0002012	HP:0001744	Splenomegaly	3	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		150
HP:0002012	HP:0002240	Hepatomegaly	3	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		150
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis			150
HP:0002012	HP:0001396	Cholestasis	3	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1			150
HP:0002012	HP:0001744	Splenomegaly	3	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1	.		150
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1			150
HP:0002012	HP:0001744	Splenomegaly	3	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0002012	HP:0002240	Hepatomegaly	3	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0002012	HP:0001395	Hepatic fibrosis	3	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16	.		32
HP:0002012	HP:0001396	Cholestasis	3	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16	.		32
HP:0002012	HP:0002240	Hepatomegaly	3	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	.		8
HP:0002012	HP:0001394	Cirrhosis	3	AP1B1 CL E G H	162	554	OMIM:242150	Ichthyosiform erythroderma, corneal involvement, and deafness	.
HP:0002012	HP:0001396	Cholestasis	3	AP1B1 CL E G H	162	554	ORPHA:171851	MEDNIK syndrome
HP:0002012	HP:0001406	Intrahepatic cholestasis	3	AP1B1 CL E G H	162	554	ORPHA:171851	MEDNIK syndrome	HP:0040282 - Frequent
HP:0002012	HP:0001396	Cholestasis	3	AP1S1 CL E G H	1174	559	ORPHA:171851	MEDNIK syndrome			1
HP:0002012	HP:0001406	Intrahepatic cholestasis	3	AP1S1 CL E G H	1174	559	ORPHA:171851	MEDNIK syndrome	HP:0040282 - Frequent		1
HP:0002012	HP:0001394	Cirrhosis	3	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	.		1
HP:0002012	HP:0001395	Hepatic fibrosis	3	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	.		1
HP:0002012	HP:0001396	Cholestasis	3	AP1S1 CL E G H	1174	559	OMIM:609313	Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma	.		1
HP:0002012	HP:0001733	Pancreatitis	3	AP2S1 CL E G H	1175	565	OMIM:600740	Hypocalciuric hypercalcemia, familial, type III	.		6
HP:0002012	HP:0001744	Splenomegaly	3	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0002012	HP:0002240	Hepatomegaly	3	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0002012	HP:0001744	Splenomegaly	3	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0002012	HP:0002240	Hepatomegaly	3	AP3D1 CL E G H	8943	568	OMIM:617050	HERMANSKY-PUDLAK SYNDROME 10; HPS10			1
HP:0002012	HP:0002884	Hepatoblastoma	3	APC CL E G H	324	583	OMIM:175100	Adenomatous polyposis coli			3179
HP:0002012	HP:0002884	Hepatoblastoma	3	APC CL E G H	324	583	ORPHA:261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	HP:0040284 - Very rare		3179
HP:0002012	HP:0002884	Hepatoblastoma	3	APC CL E G H	324	583	ORPHA:79665	Gardner syndrome	HP:0040284 - Very rare		3179
HP:0002012	HP:0001394	Cirrhosis	3	APC CL E G H	324	583	OMIM:114550	Hepatocellular carcinoma			3179
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	APC CL E G H	324	583	OMIM:114550	Hepatocellular carcinoma	.		3179
HP:0002012	HP:0012115	Hepatitis	3	APC CL E G H	324	583	OMIM:114550	Hepatocellular carcinoma			3179
HP:0002012	HP:0002884	Hepatoblastoma	3	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040284 - Very rare		3179
HP:0002012	HP:0001396	Cholestasis	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0002012	HP:0001396	Cholestasis	3	APOA1 CL E G H	335	600	OMIM:105200	Amyloidosis, familial visceral	.		40
HP:0002012	HP:0001744	Splenomegaly	3	APOA1 CL E G H	335	600	OMIM:105200	Amyloidosis, familial visceral	.		40
HP:0002012	HP:0002240	Hepatomegaly	3	APOA1 CL E G H	335	600	OMIM:105200	Amyloidosis, familial visceral	.		40
HP:0002012	HP:0031137	Storage in hepatocytes	3	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia			356
HP:0002012	HP:0001733	Pancreatitis	3	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY			27
HP:0002012	HP:0001744	Splenomegaly	3	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY			27
HP:0002012	HP:0002240	Hepatomegaly	3	APOC2 CL E G H	344	609	OMIM:207750	APOLIPOPROTEIN C-II DEFICIENCY			27
HP:0002012	HP:0001733	Pancreatitis	3	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia			39
HP:0002012	HP:0002240	Hepatomegaly	3	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040282 - Frequent		39
HP:0002012	HP:0031137	Storage in hepatocytes	3	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia			39
HP:0002012	HP:0001394	Cirrhosis	3	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease	.		39
HP:0002012	HP:0001744	Splenomegaly	3	APOE CL E G H	348	613	OMIM:269600	Sea-Blue histiocyte disease	.		39
HP:0002012	HP:0001744	Splenomegaly	3	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis	HP:0040281 - Very frequent		39
HP:0002012	HP:0002240	Hepatomegaly	3	APOE CL E G H	348	613	ORPHA:158029	Sea-blue histiocytosis	HP:0040281 - Very frequent		39
HP:0002012	HP:0012028	Hepatocellular adenoma	3	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040284 - Very rare		2
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	APPL1 CL E G H	26060	24035	ORPHA:552	MODY			2
HP:0002012	HP:0012094	Abnormal pancreas size	3	APPL1 CL E G H	26060	24035	ORPHA:552	MODY			2
HP:0002012	HP:0001394	Cirrhosis	3	ARG1 CL E G H	383	663	OMIM:207800	Argininemia			31
HP:0002012	HP:0001396	Cholestasis	3	ARG1 CL E G H	383	663	OMIM:207800	Argininemia			31
HP:0002012	HP:0002240	Hepatomegaly	3	ARG1 CL E G H	383	663	OMIM:207800	Argininemia			31
HP:0002012	HP:0006580	Portal fibrosis	3	ARG1 CL E G H	383	663	OMIM:207800	Argininemia			31
HP:0002012	HP:0001394	Cirrhosis	3	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		147
HP:0002012	HP:0001395	Hepatic fibrosis	3	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0002012	HP:0002884	Hepatoblastoma	3	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		88
HP:0002012	HP:0002884	Hepatoblastoma	3	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		219
HP:0002012	HP:0002884	Hepatoblastoma	3	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		25
HP:0002012	HP:0001396	Cholestasis	3	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0002012	HP:0002240	Hepatomegaly	3	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0002012	HP:0001395	Hepatic fibrosis	3	ARL6 CL E G H	84100	13210	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		29
HP:0002012	HP:0001080	Biliary tract abnormality	3	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.		29
HP:0002012	HP:0001395	Hepatic fibrosis	3	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.		29
HP:0002012	HP:0031137	Storage in hepatocytes	3	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy			253
HP:0002012	HP:0001080	Biliary tract abnormality	3	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0002012	HP:0001744	Splenomegaly	3	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.		120
HP:0002012	HP:0002240	Hepatomegaly	3	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.		120
HP:0002012	HP:0001744	Splenomegaly	3	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia			166
HP:0002012	HP:0001395	Hepatic fibrosis	3	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040284 - Very rare		78
HP:0002012	HP:0001396	Cholestasis	3	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0002012	HP:0001406	Intrahepatic cholestasis	3	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0002012	HP:0001744	Splenomegaly	3	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0002012	HP:0002240	Hepatomegaly	3	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0002012	HP:0001744	Splenomegaly	3	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis	.		78
HP:0002012	HP:0002240	Hepatomegaly	3	ASAH1 CL E G H	427	735	OMIM:228000	Farber lipogranulomatosis	.		78
HP:0002012	HP:0001395	Hepatic fibrosis	3	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.		81
HP:0002012	HP:0002240	Hepatomegaly	3	ASL CL E G H	435	746	OMIM:207900	Argininosuccinic aciduria	.		81
HP:0002012	HP:0001394	Cirrhosis	3	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic	.		119
HP:0002012	HP:0002240	Hepatomegaly	3	ASS1 CL E G H	445	758	OMIM:215700	Citrullinemia, classic	.		119
HP:0002012	HP:0001744	Splenomegaly	3	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis			145
HP:0002012	HP:0001971	Hypersplenism	3	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional		145
HP:0002012	HP:0002240	Hepatomegaly	3	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis			145
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis			145
HP:0002012	HP:0001734	Annular pancreas	3	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040284 - Very rare		145
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0002012	HP:0006276	Hyperechogenic pancreas	3	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0002012	HP:0001744	Splenomegaly	3	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		145
HP:0002012	HP:0002240	Hepatomegaly	3	ASXL1 CL E G H	171023	18318	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		145
HP:0002012	HP:0002240	Hepatomegaly	3	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0002012	HP:0001744	Splenomegaly	3	ATM CL E G H	472	795	ORPHA:52416	Mantle cell lymphoma	HP:0040282 - Frequent		3267
HP:0002012	HP:0001396	Cholestasis	3	ATP11C CL E G H	286410	13554	OMIM:301015	Hemolytic anemia, congenital, X-linked			1
HP:0002012	HP:0002240	Hepatomegaly	3	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001394	Cirrhosis	3	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0002012	HP:0001395	Hepatic fibrosis	3	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0002012	HP:0001396	Cholestasis	3	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0002012	HP:0001744	Splenomegaly	3	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0002012	HP:0002240	Hepatomegaly	3	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0002012	HP:0009799	Supernumerary spleens	3	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0002012	HP:0031137	Storage in hepatocytes	3	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0002012	HP:0001394	Cirrhosis	3	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R			36
HP:0002012	HP:0001396	Cholestasis	3	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R			36
HP:0002012	HP:0002240	Hepatomegaly	3	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R			36
HP:0002012	HP:0031137	Storage in hepatocytes	3	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R			36
HP:0002012	HP:0001744	Splenomegaly	3	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional		5
HP:0002012	HP:0002240	Hepatomegaly	3	ATP6V1B2 CL E G H	526	854	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional		5
HP:0002012	HP:0001396	Cholestasis	3	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease			192
HP:0002012	HP:0001396	Cholestasis	3	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent		192
HP:0002012	HP:0012115	Hepatitis	3	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent		192
HP:0002012	HP:0001394	Cirrhosis	3	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent		315
HP:0002012	HP:0001394	Cirrhosis	3	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.		315
HP:0002012	HP:0001396	Cholestasis	3	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease			315
HP:0002012	HP:0001396	Cholestasis	3	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	HP:0040283 - Occasional		315
HP:0002012	HP:0001744	Splenomegaly	3	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent		315
HP:0002012	HP:0001744	Splenomegaly	3	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0002012	HP:0002240	Hepatomegaly	3	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent		315
HP:0002012	HP:0002240	Hepatomegaly	3	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.		315
HP:0002012	HP:0006580	Portal fibrosis	3	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0002012	HP:0012115	Hepatitis	3	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0002012	HP:0012115	Hepatitis	3	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent		315
HP:0002012	HP:0031137	Storage in hepatocytes	3	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease			315
HP:0002012	HP:0031137	Storage in hepatocytes	3	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0002012	HP:0001396	Cholestasis	3	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1			144
HP:0002012	HP:0001406	Intrahepatic cholestasis	3	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1			144
HP:0002012	HP:0001733	Pancreatitis	3	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1	.		144
HP:0002012	HP:0002240	Hepatomegaly	3	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1	.		144
HP:0002012	HP:0001396	Cholestasis	3	ATP8B1 CL E G H	5205	3706	OMIM:147480	Cholestasis, intrahepatic, of pregnancy, 1			144
HP:0002012	HP:0001406	Intrahepatic cholestasis	3	ATP8B1 CL E G H	5205	3706	OMIM:147480	Cholestasis, intrahepatic, of pregnancy, 1	.		144
HP:0002012	HP:0001394	Cirrhosis	3	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1	.		144
HP:0002012	HP:0001396	Cholestasis	3	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0002012	HP:0001406	Intrahepatic cholestasis	3	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0002012	HP:0001744	Splenomegaly	3	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0002012	HP:0002240	Hepatomegaly	3	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0002012	HP:0001396	Cholestasis	3	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy			144
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy			144
HP:0002012	HP:0002240	Hepatomegaly	3	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1	.		32
HP:0002012	HP:0001744	Splenomegaly	3	ATRX CL E G H	546	886	ORPHA:231401	Alpha-thalassemia-myelodysplastic syndrome	HP:0040283 - Occasional		169
HP:0002012	HP:0002240	Hepatomegaly	3	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040283 - Occasional		169
HP:0002012	HP:0002240	Hepatomegaly	3	AUH CL E G H	549	890	ORPHA:67046	3-methylglutaconic aciduria type 1	HP:0040283 - Occasional		49
HP:0002012	HP:0001394	Cirrhosis	3	AXIN1 CL E G H	8312	903	OMIM:114550	Hepatocellular carcinoma			3
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	AXIN1 CL E G H	8312	903	OMIM:114550	Hepatocellular carcinoma	.		3
HP:0002012	HP:0012115	Hepatitis	3	AXIN1 CL E G H	8312	903	OMIM:114550	Hepatocellular carcinoma			3
HP:0002012	HP:0001396	Cholestasis	3	B2M CL E G H	567	914	OMIM:105200	Amyloidosis, familial visceral	.		8
HP:0002012	HP:0001744	Splenomegaly	3	B2M CL E G H	567	914	OMIM:105200	Amyloidosis, familial visceral	.		8
HP:0002012	HP:0002240	Hepatomegaly	3	B2M CL E G H	567	914	OMIM:105200	Amyloidosis, familial visceral	.		8
HP:0002012	HP:0012280	Hepatic amyloidosis	3	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis	HP:0040283 - Occasional		8
HP:0002012	HP:0001080	Biliary tract abnormality	3	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0002012	HP:0001744	Splenomegaly	3	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0002012	HP:0002240	Hepatomegaly	3	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0002012	HP:0001395	Hepatic fibrosis	3	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome			28
HP:0002012	HP:0001737	Pancreatic cysts	3	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		28
HP:0002012	HP:0100732	Pancreatic fibrosis	3	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		28
HP:0002012	HP:0006706	Cystic liver disease	3	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		28
HP:0002012	HP:0009799	Supernumerary spleens	3	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome			28
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome			28
HP:0002012	HP:0001395	Hepatic fibrosis	3	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome			34
HP:0002012	HP:0001737	Pancreatic cysts	3	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		34
HP:0002012	HP:0100732	Pancreatic fibrosis	3	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		34
HP:0002012	HP:0006706	Cystic liver disease	3	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		34
HP:0002012	HP:0009799	Supernumerary spleens	3	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome			34
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome			34
HP:0002012	HP:0006563	Malformation of the hepatic ductal plate	3	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10			34
HP:0002012	HP:0001396	Cholestasis	3	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1			63
HP:0002012	HP:0002240	Hepatomegaly	3	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1			63
HP:0002012	HP:0001744	Splenomegaly	3	BACH2 CL E G H	60468	14078	OMIM:618394	IMMUNODEFICIENCY 60 AND AUTOIMMUNITY; IMD60
HP:0002012	HP:0002240	Hepatomegaly	3	BAP1 CL E G H	8314	950	ORPHA:50251	Pleural mesothelioma	HP:0040283 - Occasional		184
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0002012	HP:0001395	Hepatic fibrosis	3	BBIP1 CL E G H	92482	28093	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		1
HP:0002012	HP:0001395	Hepatic fibrosis	3	BBS1 CL E G H	582	966	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		114
HP:0002012	HP:0001080	Biliary tract abnormality	3	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.		114
HP:0002012	HP:0001395	Hepatic fibrosis	3	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.		114
HP:0002012	HP:0001395	Hepatic fibrosis	3	BBS10 CL E G H	79738	26291	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		118
HP:0002012	HP:0001395	Hepatic fibrosis	3	BBS12 CL E G H	166379	26648	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		71
HP:0002012	HP:0001395	Hepatic fibrosis	3	BBS2 CL E G H	583	967	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		97
HP:0002012	HP:0001395	Hepatic fibrosis	3	BBS4 CL E G H	585	969	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		87
HP:0002012	HP:0001395	Hepatic fibrosis	3	BBS5 CL E G H	129880	970	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		25
HP:0002012	HP:0001395	Hepatic fibrosis	3	BBS7 CL E G H	55212	18758	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		66
HP:0002012	HP:0001395	Hepatic fibrosis	3	BBS9 CL E G H	27241	30000	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		119
HP:0002012	HP:0001733	Pancreatitis	3	BCKDHA CL E G H	593	986	OMIM:248600	Maple syrup urine disease	.		120
HP:0002012	HP:0001733	Pancreatitis	3	BCKDHB CL E G H	594	987	OMIM:248600	Maple syrup urine disease	.		162
HP:0002012	HP:0001744	Splenomegaly	3	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			11
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			11
HP:0002012	HP:0001744	Splenomegaly	3	BCL2 CL E G H	596	990	ORPHA:545	Follicular lymphoma	HP:0040282 - Frequent		1
HP:0002012	HP:0001744	Splenomegaly	3	BCL6 CL E G H	604	1001	ORPHA:545	Follicular lymphoma	HP:0040282 - Frequent		1
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0002012	HP:0001744	Splenomegaly	3	BCR CL E G H	613	1014	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent		5
HP:0002012	HP:0001394	Cirrhosis	3	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome	HP:0040281 - Very frequent		72
HP:0002012	HP:0001396	Cholestasis	3	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome	HP:0040281 - Very frequent		72
HP:0002012	HP:0001396	Cholestasis	3	BCS1L CL E G H	617	1020	OMIM:603358	GRACILE SYNDROME			72
HP:0002012	HP:0040134	Abnormal hepatic iron concentration	3	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome			72
HP:0002012	HP:0031137	Storage in hepatocytes	3	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome			72
HP:0002012	HP:0001080	Biliary tract abnormality	3	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0002012	HP:0001395	Hepatic fibrosis	3	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0002012	HP:0001396	Cholestasis	3	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.		72
HP:0002012	HP:0031137	Storage in hepatocytes	3	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0002012	HP:0001737	Pancreatic cysts	3	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional		5
HP:0002012	HP:0006706	Cystic liver disease	3	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease			5
HP:0002012	HP:0012028	Hepatocellular adenoma	3	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040284 - Very rare		75
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	BLK CL E G H	640	1057	ORPHA:552	MODY			75
HP:0002012	HP:0012094	Abnormal pancreas size	3	BLK CL E G H	640	1057	ORPHA:552	MODY			75
HP:0002012	HP:0031137	Storage in hepatocytes	3	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0002012	HP:0012115	Hepatitis	3	BLNK CL E G H	29760	14211	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		4
HP:0002012	HP:0001396	Cholestasis	3	BLVRA CL E G H	644	1062	OMIM:614156	Hyperbiliverdinemia	.		2
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	BLVRA CL E G H	644	1062	OMIM:614156	Hyperbiliverdinemia			2
HP:0002012	HP:0001394	Cirrhosis	3	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1	.		13
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1	.		13
HP:0002012	HP:0001744	Splenomegaly	3	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1	.		13
HP:0002012	HP:0002240	Hepatomegaly	3	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1	.		13
HP:0002012	HP:0001080	Biliary tract abnormality	3	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0002012	HP:0001394	Cirrhosis	3	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0002012	HP:0001744	Splenomegaly	3	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0002012	HP:0002240	Hepatomegaly	3	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040282 - Frequent
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0002012	HP:0030146	Abnormal liver parenchyma morphology	3	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		385
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		385
HP:0002012	HP:0002240	Hepatomegaly	3	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	.		14
HP:0002012	HP:0001744	Splenomegaly	3	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.		276
HP:0002012	HP:0001080	Biliary tract abnormality	3	BRCA1 CL E G H	672	1100	ORPHA:70567	Cholangiocarcinoma			5769
HP:0002012	HP:0001396	Cholestasis	3	BRCA1 CL E G H	672	1100	ORPHA:70567	Cholangiocarcinoma			5769
HP:0002012	HP:0001396	Cholestasis	3	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma			5769
HP:0002012	HP:0001744	Splenomegaly	3	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma			5769
HP:0002012	HP:0002240	Hepatomegaly	3	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma			5769
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040280 - Obligate		5769
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma			5769
HP:0002012	HP:0001080	Biliary tract abnormality	3	BRCA2 CL E G H	675	1101	ORPHA:70567	Cholangiocarcinoma			7642
HP:0002012	HP:0001396	Cholestasis	3	BRCA2 CL E G H	675	1101	ORPHA:70567	Cholangiocarcinoma			7642
HP:0002012	HP:0001396	Cholestasis	3	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma			7642
HP:0002012	HP:0001744	Splenomegaly	3	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma			7642
HP:0002012	HP:0002240	Hepatomegaly	3	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma			7642
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040280 - Obligate		7642
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma			7642
HP:0002012	HP:0100757	Pancreatoblastoma	3	BRD4 CL E G H	23476	13575	ORPHA:443167	NUT midline carcinoma	HP:0040282 - Frequent
HP:0002012	HP:0012142	Pancreatic squamous cell carcinoma	3	BRD4 CL E G H	23476	13575	ORPHA:443167	NUT midline carcinoma	HP:0040283 - Occasional
HP:0002012	HP:0001394	Cirrhosis	3	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		105
HP:0002012	HP:0002240	Hepatomegaly	3	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent		105
HP:0002012	HP:0031137	Storage in hepatocytes	3	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0002012	HP:0002240	Hepatomegaly	3	BSCL2 CL E G H	26580	15832	OMIM:615924	Encephalopathy, progressive, with or without lipodystrophy	HP:0040283 - Occasional		105
HP:0002012	HP:0001394	Cirrhosis	3	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.		105
HP:0002012	HP:0001733	Pancreatitis	3	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0002012	HP:0001744	Splenomegaly	3	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.		105
HP:0002012	HP:0002240	Hepatomegaly	3	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.		105
HP:0002012	HP:0031137	Storage in hepatocytes	3	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0002012	HP:0001394	Cirrhosis	3	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040283 - Occasional		105
HP:0002012	HP:0002240	Hepatomegaly	3	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040283 - Occasional		105
HP:0002012	HP:0031137	Storage in hepatocytes	3	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy			105
HP:0002012	HP:0001744	Splenomegaly	3	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset	.		223
HP:0002012	HP:0002240	Hepatomegaly	3	BTD CL E G H	686	1122	OMIM:253260	Biotinidase deficiencymultiple carboxylase deficiency, late-onset	.		223
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked			109
HP:0002012	HP:0012115	Hepatitis	3	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked			109
HP:0002012	HP:0012115	Hepatitis	3	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia			109
HP:0002012	HP:0012115	Hepatitis	3	BTK CL E G H	695	1133	ORPHA:47	X-linked agammaglobulinemia	HP:0040283 - Occasional		109
HP:0002012	HP:0002240	Hepatomegaly	3	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		1
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0002012	HP:0030146	Abnormal liver parenchyma morphology	3	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		1
HP:0002012	HP:0001744	Splenomegaly	3	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2	.		1
HP:0002012	HP:0002240	Hepatomegaly	3	BTNL2 CL E G H	56244	1142	OMIM:612387	Sarcoidosis, susceptibility to, 2	.		1
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0002012	HP:0002240	Hepatomegaly	3	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33	HP:0040284 - Very rare
HP:0002012	HP:0012115	Hepatitis	3	C1S CL E G H	716	1247	OMIM:613783	Complement component c1s deficiency	.		7
HP:0002012	HP:0002240	Hepatomegaly	3	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0002012	HP:0001733	Pancreatitis	3	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0002012	HP:0001744	Splenomegaly	3	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0002012	HP:0012115	Hepatitis	3	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency			1
HP:0002012	HP:0002240	Hepatomegaly	3	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis	HP:0040281 - Very frequent		29
HP:0002012	HP:0001744	Splenomegaly	3	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3			29
HP:0002012	HP:0002240	Hepatomegaly	3	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3			29
HP:0002012	HP:0001394	Cirrhosis	3	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome	HP:0040282 - Frequent		1
HP:0002012	HP:0001396	Cholestasis	3	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome			1
HP:0002012	HP:0001744	Splenomegaly	3	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome	HP:0040281 - Very frequent		1
HP:0002012	HP:0002240	Hepatomegaly	3	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome	HP:0040282 - Frequent		1
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome			1
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome			1
HP:0002012	HP:0001744	Splenomegaly	3	CALR CL E G H	811	1455	ORPHA:3318	Essential thrombocythemia	HP:0040282 - Frequent		1
HP:0002012	HP:0001744	Splenomegaly	3	CALR CL E G H	811	1455	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included			1
HP:0002012	HP:0001744	Splenomegaly	3	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		1
HP:0002012	HP:0002240	Hepatomegaly	3	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		1
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis			1
HP:0002012	HP:0001744	Splenomegaly	3	CALR CL E G H	811	1455	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1			1
HP:0002012	HP:0001744	Splenomegaly	3	CARD11 CL E G H	84433	16393	OMIM:616452	B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY; BENTA			45
HP:0002012	HP:0031137	Storage in hepatocytes	3	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27			35
HP:0002012	HP:0001396	Cholestasis	3	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			118
HP:0002012	HP:0001744	Splenomegaly	3	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency	HP:0040284 - Very rare		118
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		87
HP:0002012	HP:0001744	Splenomegaly	3	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040281 - Very frequent		87
HP:0002012	HP:0001971	Hypersplenism	3	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent		87
HP:0002012	HP:0002240	Hepatomegaly	3	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent		87
HP:0002012	HP:0012115	Hepatitis	3	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional		87
HP:0002012	HP:0001744	Splenomegaly	3	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA			87
HP:0002012	HP:0002240	Hepatomegaly	3	CASP10 CL E G H	843	1500	OMIM:603909	Autoimmune lymphoproliferative syndrome, type IIA			87
HP:0002012	HP:0001744	Splenomegaly	3	CASP8 CL E G H	841	1509	OMIM:607271	CASPASE 8 DEFICIENCY			37
HP:0002012	HP:0001394	Cirrhosis	3	CASP8 CL E G H	841	1509	OMIM:114550	Hepatocellular carcinoma			37
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	CASP8 CL E G H	841	1509	OMIM:114550	Hepatocellular carcinoma	.		37
HP:0002012	HP:0012115	Hepatitis	3	CASP8 CL E G H	841	1509	OMIM:114550	Hepatocellular carcinoma			37
HP:0002012	HP:0001396	Cholestasis	3	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis			272
HP:0002012	HP:0001733	Pancreatitis	3	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis			272
HP:0002012	HP:0005213	Pancreatic calcification	3	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional		272
HP:0002012	HP:0001744	Splenomegaly	3	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe	.		272
HP:0002012	HP:0002240	Hepatomegaly	3	CASR CL E G H	846	1514	OMIM:239200	Hyperparathyroidism, neonatal severe	.		272
HP:0002012	HP:0001733	Pancreatitis	3	CASR CL E G H	846	1514	OMIM:145980	Hypocalciuric hypercalcemia, familial, type I	.		272
HP:0002012	HP:0001744	Splenomegaly	3	CASR CL E G H	846	1514	ORPHA:417	Neonatal severe primary hyperparathyroidism	HP:0040281 - Very frequent		272
HP:0002012	HP:0002240	Hepatomegaly	3	CASR CL E G H	846	1514	ORPHA:417	Neonatal severe primary hyperparathyroidism	HP:0040281 - Very frequent		272
HP:0002012	HP:0001734	Annular pancreas	3	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0002012	HP:0031137	Storage in hepatocytes	3	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0002012	HP:0001394	Cirrhosis	3	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		11
HP:0002012	HP:0002240	Hepatomegaly	3	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent		11
HP:0002012	HP:0031137	Storage in hepatocytes	3	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0002012	HP:0001744	Splenomegaly	3	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3	.		11
HP:0002012	HP:0002240	Hepatomegaly	3	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3	.		11
HP:0002012	HP:0031137	Storage in hepatocytes	3	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3			11
HP:0002012	HP:0001733	Pancreatitis	3	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7	.		11
HP:0002012	HP:0001394	Cirrhosis	3	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		48
HP:0002012	HP:0002240	Hepatomegaly	3	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent		48
HP:0002012	HP:0031137	Storage in hepatocytes	3	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0002012	HP:0001744	Splenomegaly	3	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.		48
HP:0002012	HP:0002240	Hepatomegaly	3	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.		48
HP:0002012	HP:0031137	Storage in hepatocytes	3	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4			48
HP:0002012	HP:0001744	Splenomegaly	3	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis			317
HP:0002012	HP:0001971	Hypersplenism	3	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional		317
HP:0002012	HP:0002240	Hepatomegaly	3	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis			317
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis			317
HP:0002012	HP:0002240	Hepatomegaly	3	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		317
HP:0002012	HP:0002240	Hepatomegaly	3	CBS CL E G H	875	1550	ORPHA:394	Classic homocystinuria	HP:0040283 - Occasional		242
HP:0002012	HP:0001733	Pancreatitis	3	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency	.		242
HP:0002012	HP:0031137	Storage in hepatocytes	3	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0002012	HP:0001395	Hepatic fibrosis	3	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2			247
HP:0002012	HP:0006580	Portal fibrosis	3	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2			247
HP:0002012	HP:0001395	Hepatic fibrosis	3	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9			247
HP:0002012	HP:0001080	Biliary tract abnormality	3	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0002012	HP:0001394	Cirrhosis	3	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		247
HP:0002012	HP:0001395	Hepatic fibrosis	3	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0002012	HP:0001744	Splenomegaly	3	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		247
HP:0002012	HP:0002240	Hepatomegaly	3	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		247
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0002012	HP:0001395	Hepatic fibrosis	3	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome			247
HP:0002012	HP:0001737	Pancreatic cysts	3	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		247
HP:0002012	HP:0100732	Pancreatic fibrosis	3	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		247
HP:0002012	HP:0006706	Cystic liver disease	3	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		247
HP:0002012	HP:0009799	Supernumerary spleens	3	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome			247
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome			247
HP:0002012	HP:0001080	Biliary tract abnormality	3	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6			247
HP:0002012	HP:0001395	Hepatic fibrosis	3	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6	.		247
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6			247
HP:0002012	HP:0006706	Cystic liver disease	3	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6	HP:0040281 - Very frequent	HP:0003577 - Congenital onset	247
HP:0002012	HP:0001744	Splenomegaly	3	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040282 - Frequent		147
HP:0002012	HP:0009799	Supernumerary spleens	3	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0002012	HP:0001394	Cirrhosis	3	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO	.		3
HP:0002012	HP:0001396	Cholestasis	3	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO			3
HP:0002012	HP:0001744	Splenomegaly	3	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO	.		3
HP:0002012	HP:0002240	Hepatomegaly	3	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO	.		3
HP:0002012	HP:0001080	Biliary tract abnormality	3	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.		4
HP:0002012	HP:0001395	Hepatic fibrosis	3	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.		4
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0002012	HP:0009799	Supernumerary spleens	3	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14			126
HP:0002012	HP:0009799	Supernumerary spleens	3	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0002012	HP:0009799	Supernumerary spleens	3	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0002012	HP:0001744	Splenomegaly	3	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	HP:0040284 - Very rare
HP:0002012	HP:0002240	Hepatomegaly	3	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	HP:0040284 - Very rare
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0002012	HP:0009799	Supernumerary spleens	3	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0002012	HP:0001744	Splenomegaly	3	CCND1 CL E G H	595	1582	ORPHA:52416	Mantle cell lymphoma	HP:0040282 - Frequent		1
HP:0002012	HP:0001744	Splenomegaly	3	CCND1 CL E G H	595	1582	ORPHA:29073	Multiple myeloma	HP:0040284 - Very rare		1
HP:0002012	HP:0001737	Pancreatic cysts	3	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		1
HP:0002012	HP:0008261	Pancreatic islet cell adenoma	3	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		1
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0002012	HP:0001737	Pancreatic cysts	3	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome	.		1
HP:0002012	HP:0031207	Hepatic hemangioma	3	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome			1
HP:0002012	HP:0009799	Supernumerary spleens	3	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0002012	HP:0001733	Pancreatitis	3	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002012	HP:0001744	Splenomegaly	3	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002012	HP:0001744	Splenomegaly	3	CD19 CL E G H	930	1633	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		38
HP:0002012	HP:0001744	Splenomegaly	3	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2	.		38
HP:0002012	HP:0002240	Hepatomegaly	3	CD19 CL E G H	930	1633	OMIM:240500	Immunodeficiency, common variable, 2	.		38
HP:0002012	HP:0001744	Splenomegaly	3	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			8
HP:0002012	HP:0002240	Hepatomegaly	3	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			8
HP:0002012	HP:0001744	Splenomegaly	3	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			8
HP:0002012	HP:0002240	Hepatomegaly	3	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			8
HP:0002012	HP:0012115	Hepatitis	3	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional		8
HP:0002012	HP:0001744	Splenomegaly	3	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2			4
HP:0002012	HP:0002240	Hepatomegaly	3	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2			4
HP:0002012	HP:0001744	Splenomegaly	3	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides	HP:0040283 - Occasional
HP:0002012	HP:0002240	Hepatomegaly	3	CD28 CL E G H	940	1653	ORPHA:2584	Classic mycosis fungoides	HP:0040283 - Occasional
HP:0002012	HP:0001744	Splenomegaly	3	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome	HP:0040282 - Frequent
HP:0002012	HP:0002240	Hepatomegaly	3	CD28 CL E G H	940	1653	ORPHA:3162	Sézary syndrome	HP:0040282 - Frequent
HP:0002012	HP:0001744	Splenomegaly	3	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			18
HP:0002012	HP:0002240	Hepatomegaly	3	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			18
HP:0002012	HP:0012115	Hepatitis	3	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional		18
HP:0002012	HP:0001744	Splenomegaly	3	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			24
HP:0002012	HP:0002240	Hepatomegaly	3	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta			24
HP:0002012	HP:0012115	Hepatitis	3	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional		24
HP:0002012	HP:0001080	Biliary tract abnormality	3	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0002012	HP:0001394	Cirrhosis	3	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0002012	HP:0001744	Splenomegaly	3	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM	.		33
HP:0002012	HP:0002240	Hepatomegaly	3	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM	.		33
HP:0002012	HP:0012115	Hepatitis	3	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0002012	HP:0002240	Hepatomegaly	3	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	.		9
HP:0002012	HP:0001744	Splenomegaly	3	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0002012	HP:0002240	Hepatomegaly	3	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0002012	HP:0012115	Hepatitis	3	CD79A CL E G H	973	1698	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		9
HP:0002012	HP:0012115	Hepatitis	3	CD79B CL E G H	974	1699	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		6
HP:0002012	HP:0001744	Splenomegaly	3	CD81 CL E G H	975	1701	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		1
HP:0002012	HP:0002240	Hepatomegaly	3	CD81 CL E G H	975	1701	OMIM:613496	Immunodeficiency, common variable, 6			1
HP:0002012	HP:0002240	Hepatomegaly	3	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.		83
HP:0002012	HP:0001396	Cholestasis	3	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia			86
HP:0002012	HP:0001744	Splenomegaly	3	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia	.		86
HP:0002012	HP:0002240	Hepatomegaly	3	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia			86
HP:0002012	HP:0030717	Meconium peritonitis	3	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0002012	HP:0001733	Pancreatitis	3	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2			169
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2	.		169
HP:0002012	HP:0001733	Pancreatitis	3	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040283 - Occasional		169
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	CDC73 CL E G H	79577	16783	ORPHA:99880	Hyperparathyroidism-jaw tumor syndrome	HP:0040284 - Very rare		169
HP:0002012	HP:0001733	Pancreatitis	3	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040283 - Occasional		169
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	CDC73 CL E G H	79577	16783	ORPHA:143	Parathyroid carcinoma	HP:0040284 - Very rare		169
HP:0002012	HP:0001396	Cholestasis	3	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib
HP:0002012	HP:0001744	Splenomegaly	3	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib	.
HP:0002012	HP:0002240	Hepatomegaly	3	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib	.
HP:0002012	HP:0008261	Pancreatic islet cell adenoma	3	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0002012	HP:0008261	Pancreatic islet cell adenoma	3	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0002012	HP:0001396	Cholestasis	3	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0002012	HP:0008261	Pancreatic islet cell adenoma	3	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0002012	HP:0002240	Hepatomegaly	3	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.		114
HP:0002012	HP:0002884	Hepatoblastoma	3	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.		114
HP:0002012	HP:0012094	Abnormal pancreas size	3	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0002012	HP:0001396	Cholestasis	3	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma			289
HP:0002012	HP:0001744	Splenomegaly	3	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma			289
HP:0002012	HP:0002240	Hepatomegaly	3	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma			289
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040280 - Obligate		289
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma			289
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	CDKN2A CL E G H	1029	1787	OMIM:606719	Melanoma-Pancreatic cancer syndrome	.		289
HP:0002012	HP:0012142	Pancreatic squamous cell carcinoma	3	CDKN2A CL E G H	1029	1787	OMIM:606719	Melanoma-Pancreatic cancer syndrome	.		289
HP:0002012	HP:0008261	Pancreatic islet cell adenoma	3	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0002012	HP:0008261	Pancreatic islet cell adenoma	3	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0002012	HP:0009799	Supernumerary spleens	3	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11			200
HP:0002012	HP:0001394	Cirrhosis	3	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0001394	Cirrhosis	3	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis			1
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	CEL CL E G H	1056	1848	OMIM:609812	Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction	.		25
HP:0002012	HP:0012028	Hepatocellular adenoma	3	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040284 - Very rare		25
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	CEL CL E G H	1056	1848	ORPHA:552	MODY			25
HP:0002012	HP:0012094	Abnormal pancreas size	3	CEL CL E G H	1056	1848	ORPHA:552	MODY			25
HP:0002012	HP:0009799	Supernumerary spleens	3	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome			27
HP:0002012	HP:0001395	Hepatic fibrosis	3	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome			34
HP:0002012	HP:0001395	Hepatic fibrosis	3	CEP19 CL E G H	84984	28209	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		1
HP:0002012	HP:0031137	Storage in hepatocytes	3	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure			1
HP:0002012	HP:0001395	Hepatic fibrosis	3	CEP290 CL E G H	80184	29021	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		342
HP:0002012	HP:0001395	Hepatic fibrosis	3	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome			342
HP:0002012	HP:0001737	Pancreatic cysts	3	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		342
HP:0002012	HP:0100732	Pancreatic fibrosis	3	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		342
HP:0002012	HP:0006706	Cystic liver disease	3	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		342
HP:0002012	HP:0009799	Supernumerary spleens	3	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome			342
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome			342
HP:0002012	HP:0001080	Biliary tract abnormality	3	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4			342
HP:0002012	HP:0001395	Hepatic fibrosis	3	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome			342
HP:0002012	HP:0001396	Cholestasis	3	CEP83 CL E G H	51134	17966	OMIM:615862	Nephronophthisis 18	HP:0040283 - Occasional		10
HP:0002012	HP:0006580	Portal fibrosis	3	CEP83 CL E G H	51134	17966	OMIM:615862	Nephronophthisis 18	HP:0040283 - Occasional		10
HP:0002012	HP:0009799	Supernumerary spleens	3	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0009799	Supernumerary spleens	3	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0009799	Supernumerary spleens	3	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0001744	Splenomegaly	3	CFAP410 CL E G H	755	1260	OMIM:602271	Spondylometaphyseal dysplasia, axial	HP:0040284 - Very rare
HP:0002012	HP:0001395	Hepatic fibrosis	3	CFAP418 CL E G H	157657	27232	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional
HP:0002012	HP:0009799	Supernumerary spleens	3	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0002012	HP:0009799	Supernumerary spleens	3	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal			13
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal			13
HP:0002012	HP:0001080	Biliary tract abnormality	3	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0002012	HP:0001394	Cirrhosis	3	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0002012	HP:0001394	Cirrhosis	3	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0002012	HP:0001733	Pancreatitis	3	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0002012	HP:0001744	Splenomegaly	3	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0002012	HP:0002240	Hepatomegaly	3	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis			1371
HP:0002012	HP:0001396	Cholestasis	3	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis			1371
HP:0002012	HP:0001733	Pancreatitis	3	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis			1371
HP:0002012	HP:0005213	Pancreatic calcification	3	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional		1371
HP:0002012	HP:0001733	Pancreatitis	3	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary	.		1371
HP:0002012	HP:0005206	Pancreatic pseudocyst	3	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary	.		1371
HP:0002012	HP:0005213	Pancreatic calcification	3	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary	.		1371
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary			1371
HP:0002012	HP:0001744	Splenomegaly	3	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		515
HP:0002012	HP:0002240	Hepatomegaly	3	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		515
HP:0002012	HP:0001733	Pancreatitis	3	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy	HP:0040281 - Very frequent		8
HP:0002012	HP:0002240	Hepatomegaly	3	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy	HP:0040281 - Very frequent		8
HP:0002012	HP:0031137	Storage in hepatocytes	3	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy			8
HP:0002012	HP:0002240	Hepatomegaly	3	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5	.		8
HP:0002012	HP:0031137	Storage in hepatocytes	3	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5			8
HP:0002012	HP:0001080	Biliary tract abnormality	3	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II	.		118
HP:0002012	HP:0012115	Hepatitis	3	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II			118
HP:0002012	HP:0001080	Biliary tract abnormality	3	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II			118
HP:0002012	HP:0012115	Hepatitis	3	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II			118
HP:0002012	HP:0001394	Cirrhosis	3	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0001744	Splenomegaly	3	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		102
HP:0002012	HP:0002240	Hepatomegaly	3	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		102
HP:0002012	HP:0001744	Splenomegaly	3	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development	.		102
HP:0002012	HP:0002240	Hepatomegaly	3	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development	.		102
HP:0002012	HP:0001744	Splenomegaly	3	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis			102
HP:0002012	HP:0002240	Hepatomegaly	3	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis			102
HP:0002012	HP:0001744	Splenomegaly	3	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4	.		102
HP:0002012	HP:0002240	Hepatomegaly	3	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4	.		102
HP:0002012	HP:0001080	Biliary tract abnormality	3	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis			11
HP:0002012	HP:0001396	Cholestasis	3	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis			11
HP:0002012	HP:0002240	Hepatomegaly	3	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	.		11
HP:0002012	HP:0001396	Cholestasis	3	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome	HP:0040281 - Very frequent		11
HP:0002012	HP:0001744	Splenomegaly	3	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome	HP:0040281 - Very frequent		11
HP:0002012	HP:0002240	Hepatomegaly	3	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome	HP:0040281 - Very frequent		11
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome			11
HP:0002012	HP:0012115	Hepatitis	3	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		3
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0002012	HP:0031137	Storage in hepatocytes	3	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7			38
HP:0002012	HP:0031137	Storage in hepatocytes	3	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0002012	HP:0001744	Splenomegaly	3	CLPB CL E G H	81570	30664	OMIM:619813	NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT; SCN9			38
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome			2
HP:0002012	HP:0012094	Abnormal pancreas size	3	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome			2
HP:0002012	HP:0002240	Hepatomegaly	3	CNTNAP2 CL E G H	26047	13830	ORPHA:163681	CNTNAP2-related developmental and epileptic encephalopathy			518
HP:0002012	HP:0002240	Hepatomegaly	3	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0002012	HP:0031137	Storage in hepatocytes	3	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0002012	HP:0001744	Splenomegaly	3	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0002012	HP:0002240	Hepatomegaly	3	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0002012	HP:0001394	Cirrhosis	3	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent		67
HP:0002012	HP:0001744	Splenomegaly	3	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG			67
HP:0002012	HP:0002240	Hepatomegaly	3	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG			67
HP:0002012	HP:0001394	Cirrhosis	3	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj	HP:0040283 - Occasional		67
HP:0002012	HP:0001744	Splenomegaly	3	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj	HP:0040283 - Occasional		67
HP:0002012	HP:0002240	Hepatomegaly	3	COG4 CL E G H	25839	18620	OMIM:613489	Congenital disorder of glycosylation, type IIj	HP:0040283 - Occasional		67
HP:0002012	HP:0001744	Splenomegaly	3	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0002012	HP:0002240	Hepatomegaly	3	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional		79
HP:0002012	HP:0001394	Cirrhosis	3	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0002012	HP:0001396	Cholestasis	3	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0002012	HP:0001744	Splenomegaly	3	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0002012	HP:0002240	Hepatomegaly	3	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0002012	HP:0012115	Hepatitis	3	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	HP:0040283 - Occasional		71
HP:0002012	HP:0001396	Cholestasis	3	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0002012	HP:0001744	Splenomegaly	3	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0002012	HP:0002240	Hepatomegaly	3	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0002012	HP:0001396	Cholestasis	3	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe			64
HP:0002012	HP:0001744	Splenomegaly	3	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.		64
HP:0002012	HP:0002240	Hepatomegaly	3	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.		64
HP:0002012	HP:0012115	Hepatitis	3	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	COL14A1 CL E G H	7373	2191	ORPHA:79501	Punctate palmoplantar keratoderma type 1	HP:0040284 - Very rare		2
HP:0002012	HP:0001744	Splenomegaly	3	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional		5
HP:0002012	HP:0001733	Pancreatitis	3	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0002012	HP:0001744	Splenomegaly	3	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0002012	HP:0002240	Hepatomegaly	3	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10			4
HP:0002012	HP:0031137	Storage in hepatocytes	3	COX15 CL E G H	1355	2263	OMIM:615119	Mitochondrial complex IV deficiency, nuclear type 6			104
HP:0002012	HP:0001733	Pancreatitis	3	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0002012	HP:0001733	Pancreatitis	3	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0002012	HP:0001396	Cholestasis	3	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis			13
HP:0002012	HP:0001744	Splenomegaly	3	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis	.		13
HP:0002012	HP:0002240	Hepatomegaly	3	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis	.		13
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis			13
HP:0002012	HP:0002240	Hepatomegaly	3	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0002012	HP:0040134	Abnormal hepatic iron concentration	3	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia			115
HP:0002012	HP:0001396	Cholestasis	3	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis			5
HP:0002012	HP:0001733	Pancreatitis	3	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis			5
HP:0002012	HP:0005213	Pancreatic calcification	3	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional		5
HP:0002012	HP:0001080	Biliary tract abnormality	3	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		1
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		1
HP:0002012	HP:0009799	Supernumerary spleens	3	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0002012	HP:0001396	Cholestasis	3	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria			72
HP:0002012	HP:0001744	Splenomegaly	3	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria	.		72
HP:0002012	HP:0002240	Hepatomegaly	3	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria	.		72
HP:0002012	HP:0001396	Cholestasis	3	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria			72
HP:0002012	HP:0001744	Splenomegaly	3	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria	.		72
HP:0002012	HP:0002240	Hepatomegaly	3	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria	.		72
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	CPOX CL E G H	1371	2321	ORPHA:79273	Hereditary coproporphyria	HP:0040283 - Occasional		72
HP:0002012	HP:0002240	Hepatomegaly	3	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency	HP:0040282 - Frequent		99
HP:0002012	HP:0002240	Hepatomegaly	3	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency	.		99
HP:0002012	HP:0031137	Storage in hepatocytes	3	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency			99
HP:0002012	HP:0002240	Hepatomegaly	3	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040282 - Frequent		101
HP:0002012	HP:0006559	Hepatic calcification	3	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040283 - Occasional		101
HP:0002012	HP:0031137	Storage in hepatocytes	3	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form			101
HP:0002012	HP:0002240	Hepatomegaly	3	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040283 - Occasional		101
HP:0002012	HP:0031137	Storage in hepatocytes	3	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form			101
HP:0002012	HP:0002240	Hepatomegaly	3	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile			101
HP:0002012	HP:0031137	Storage in hepatocytes	3	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile			101
HP:0002012	HP:0002240	Hepatomegaly	3	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.		101
HP:0002012	HP:0006559	Hepatic calcification	3	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.		101
HP:0002012	HP:0031137	Storage in hepatocytes	3	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0002012	HP:0001744	Splenomegaly	3	CR2 CL E G H	1380	2336	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		10
HP:0002012	HP:0001744	Splenomegaly	3	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2	.		10
HP:0002012	HP:0002240	Hepatomegaly	3	CR2 CL E G H	1380	2336	OMIM:240500	Immunodeficiency, common variable, 2	.		10
HP:0002012	HP:0001744	Splenomegaly	3	CR2 CL E G H	1380	2336	OMIM:614699	IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7			10
HP:0002012	HP:0009799	Supernumerary spleens	3	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0002012	HP:0031207	Hepatic hemangioma	3	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0002012	HP:0001744	Splenomegaly	3	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary			34
HP:0002012	HP:0002240	Hepatomegaly	3	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary			34
HP:0002012	HP:0001395	Hepatic fibrosis	3	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome			57
HP:0002012	HP:0001737	Pancreatic cysts	3	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		57
HP:0002012	HP:0100732	Pancreatic fibrosis	3	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		57
HP:0002012	HP:0006706	Cystic liver disease	3	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		57
HP:0002012	HP:0009799	Supernumerary spleens	3	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome			57
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome			57
HP:0002012	HP:0001080	Biliary tract abnormality	3	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		2
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		2
HP:0002012	HP:0009799	Supernumerary spleens	3	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0002012	HP:0001394	Cirrhosis	3	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		160
HP:0002012	HP:0001744	Splenomegaly	3	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		160
HP:0002012	HP:0002240	Hepatomegaly	3	CTC1 CL E G H	80169	26169	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		160
HP:0002012	HP:0001396	Cholestasis	3	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0002012	HP:0001744	Splenomegaly	3	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5			10
HP:0002012	HP:0002240	Hepatomegaly	3	CTLA4 CL E G H	1493	2505	OMIM:616100	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5			10
HP:0002012	HP:0001744	Splenomegaly	3	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides	HP:0040283 - Occasional		10
HP:0002012	HP:0002240	Hepatomegaly	3	CTLA4 CL E G H	1493	2505	ORPHA:2584	Classic mycosis fungoides	HP:0040283 - Occasional		10
HP:0002012	HP:0001733	Pancreatitis	3	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		10
HP:0002012	HP:0001744	Splenomegaly	3	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome	HP:0040282 - Frequent		10
HP:0002012	HP:0002240	Hepatomegaly	3	CTLA4 CL E G H	1493	2505	ORPHA:3162	Sézary syndrome	HP:0040282 - Frequent		10
HP:0002012	HP:0001394	Cirrhosis	3	CTNNB1 CL E G H	1499	2514	OMIM:114550	Hepatocellular carcinoma			88
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	CTNNB1 CL E G H	1499	2514	OMIM:114550	Hepatocellular carcinoma	.		88
HP:0002012	HP:0012115	Hepatitis	3	CTNNB1 CL E G H	1499	2514	OMIM:114550	Hepatocellular carcinoma			88
HP:0002012	HP:0001395	Hepatic fibrosis	3	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040281 - Very frequent		88
HP:0002012	HP:0002240	Hepatomegaly	3	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040281 - Very frequent		88
HP:0002012	HP:0002605	Hepatic necrosis	3	CTNNB1 CL E G H	1499	2514	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040282 - Frequent		88
HP:0002012	HP:0001744	Splenomegaly	3	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.		178
HP:0002012	HP:0002240	Hepatomegaly	3	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.		178
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic			178
HP:0002012	HP:0001396	Cholestasis	3	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis			39
HP:0002012	HP:0001733	Pancreatitis	3	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis			39
HP:0002012	HP:0005213	Pancreatic calcification	3	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional		39
HP:0002012	HP:0001733	Pancreatitis	3	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary	.		39
HP:0002012	HP:0005206	Pancreatic pseudocyst	3	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary	.		39
HP:0002012	HP:0005213	Pancreatic calcification	3	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary	.		39
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary			39
HP:0002012	HP:0001396	Cholestasis	3	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0002012	HP:0001733	Pancreatitis	3	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0002012	HP:0005213	Pancreatic calcification	3	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0002012	HP:0030992	Abnormal pancreatic duct morphology	3	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0002012	HP:0001744	Splenomegaly	3	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0002012	HP:0002240	Hepatomegaly	3	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0002012	HP:0100523	Liver abscess	3	CTSC CL E G H	1075	2528	ORPHA:678	Papillon-Lefèvre syndrome	HP:0040283 - Occasional		50
HP:0002012	HP:0001744	Splenomegaly	3	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis	HP:0040283 - Occasional		39
HP:0002012	HP:0002240	Hepatomegaly	3	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis	HP:0040283 - Occasional		39
HP:0002012	HP:0001744	Splenomegaly	3	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional		27
HP:0002012	HP:0100523	Liver abscess	3	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional		27
HP:0002012	HP:0002240	Hepatomegaly	3	CYBA CL E G H	1535	2577	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		27
HP:0002012	HP:0001744	Splenomegaly	3	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE	.		27
HP:0002012	HP:0100523	Liver abscess	3	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE			27
HP:0002012	HP:0002240	Hepatomegaly	3	CYBA CL E G H	1535	2577	OMIM:233690	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME b-NEGATIVE	.		27
HP:0002012	HP:0001744	Splenomegaly	3	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional		111
HP:0002012	HP:0100523	Liver abscess	3	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional		111
HP:0002012	HP:0002240	Hepatomegaly	3	CYBB CL E G H	1536	2578	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		111
HP:0002012	HP:0001744	Splenomegaly	3	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked	.		111
HP:0002012	HP:0100523	Liver abscess	3	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked	.		111
HP:0002012	HP:0002240	Hepatomegaly	3	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked	.		111
HP:0002012	HP:0001744	Splenomegaly	3	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional
HP:0002012	HP:0100523	Liver abscess	3	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional
HP:0002012	HP:0002240	Hepatomegaly	3	CYBC1 CL E G H	79415	28672	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent
HP:0002012	HP:0001733	Pancreatitis	3	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0002012	HP:0001744	Splenomegaly	3	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0002012	HP:0002240	Hepatomegaly	3	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0002012	HP:0031137	Storage in hepatocytes	3	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0002012	HP:0001396	Cholestasis	3	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0002012	HP:0001396	Cholestasis	3	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0040281 - Very frequent		11
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency			11
HP:0002012	HP:0012115	Hepatitis	3	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0040281 - Very frequent		11
HP:0002012	HP:0031137	Storage in hepatocytes	3	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency			11
HP:0002012	HP:0001080	Biliary tract abnormality	3	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3			57
HP:0002012	HP:0001394	Cirrhosis	3	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3	.		57
HP:0002012	HP:0001395	Hepatic fibrosis	3	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3			57
HP:0002012	HP:0001396	Cholestasis	3	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3			57
HP:0002012	HP:0001406	Intrahepatic cholestasis	3	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3	.		57
HP:0002012	HP:0001744	Splenomegaly	3	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3	.		57
HP:0002012	HP:0002240	Hepatomegaly	3	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3	.		57
HP:0002012	HP:0012115	Hepatitis	3	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3	.		57
HP:0002012	HP:0001080	Biliary tract abnormality	3	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3	HP:0040281 - Very frequent		57
HP:0002012	HP:0001394	Cirrhosis	3	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3			57
HP:0002012	HP:0001396	Cholestasis	3	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3			57
HP:0002012	HP:0001744	Splenomegaly	3	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3	HP:0040281 - Very frequent		57
HP:0002012	HP:0002240	Hepatomegaly	3	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3	HP:0040281 - Very frequent		57
HP:0002012	HP:0002240	Hepatomegaly	3	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040283 - Occasional
HP:0002012	HP:0002240	Hepatomegaly	3	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040283 - Occasional
HP:0002012	HP:0001733	Pancreatitis	3	DBT CL E G H	1629	2698	OMIM:248600	Maple syrup urine disease	.		156
HP:0002012	HP:0001080	Biliary tract abnormality	3	DCDC2 CL E G H	51473	18141	OMIM:616217	Nephronophthisis 19			8
HP:0002012	HP:0001395	Hepatic fibrosis	3	DCDC2 CL E G H	51473	18141	OMIM:616217	Nephronophthisis 19	.		8
HP:0002012	HP:0001396	Cholestasis	3	DCDC2 CL E G H	51473	18141	OMIM:616217	Nephronophthisis 19	.		8
HP:0002012	HP:0001744	Splenomegaly	3	DCDC2 CL E G H	51473	18141	OMIM:616217	Nephronophthisis 19	.		8
HP:0002012	HP:0002240	Hepatomegaly	3	DCDC2 CL E G H	51473	18141	OMIM:616217	Nephronophthisis 19	.		8
HP:0002012	HP:0001080	Biliary tract abnormality	3	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal			8
HP:0002012	HP:0001394	Cirrhosis	3	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal	.		8
HP:0002012	HP:0001395	Hepatic fibrosis	3	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal			8
HP:0002012	HP:0001396	Cholestasis	3	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal	.		8
HP:0002012	HP:0001744	Splenomegaly	3	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal	.		8
HP:0002012	HP:0002240	Hepatomegaly	3	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal	.		8
HP:0002012	HP:0006580	Portal fibrosis	3	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal			8
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal			8
HP:0002012	HP:0001080	Biliary tract abnormality	3	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0002012	HP:0001394	Cirrhosis	3	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0002012	HP:0001395	Hepatic fibrosis	3	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0002012	HP:0001396	Cholestasis	3	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0002012	HP:0001744	Splenomegaly	3	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0002012	HP:0002240	Hepatomegaly	3	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0002012	HP:0006563	Malformation of the hepatic ductal plate	3	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0002012	HP:0001744	Splenomegaly	3	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		94
HP:0002012	HP:0001744	Splenomegaly	3	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.		94
HP:0002012	HP:0002240	Hepatomegaly	3	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		94
HP:0002012	HP:0002240	Hepatomegaly	3	DCLRE1C CL E G H	64421	17642	OMIM:603554	Omenn syndrome	.		94
HP:0002012	HP:0001744	Splenomegaly	3	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation			94
HP:0002012	HP:0002240	Hepatomegaly	3	DCLRE1C CL E G H	64421	17642	OMIM:602450	Severe combined immunodeficiency with sensitivity to ionizing radiation			94
HP:0002012	HP:0001394	Cirrhosis	3	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0031137	Storage in hepatocytes	3	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG			62
HP:0002012	HP:0001744	Splenomegaly	3	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type	.
HP:0002012	HP:0001744	Splenomegaly	3	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0002012	HP:0002240	Hepatomegaly	3	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type	.
HP:0002012	HP:0002240	Hepatomegaly	3	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type
HP:0002012	HP:0001396	Cholestasis	3	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002012	HP:0002240	Hepatomegaly	3	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002012	HP:0031137	Storage in hepatocytes	3	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002012	HP:0001394	Cirrhosis	3	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)			57
HP:0002012	HP:0001395	Hepatic fibrosis	3	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)			57
HP:0002012	HP:0001396	Cholestasis	3	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)			57
HP:0002012	HP:0001744	Splenomegaly	3	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.		57
HP:0002012	HP:0002240	Hepatomegaly	3	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.		57
HP:0002012	HP:0002605	Hepatic necrosis	3	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)			57
HP:0002012	HP:0006581	Depletion of mitochondrial DNA in liver	3	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.		57
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)			57
HP:0002012	HP:0031137	Storage in hepatocytes	3	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)			57
HP:0002012	HP:0001744	Splenomegaly	3	DGUOK CL E G H	1716	2858	OMIM:617068	Portal hypertension, noncirrhotic	.		57
HP:0002012	HP:0002240	Hepatomegaly	3	DGUOK CL E G H	1716	2858	OMIM:617068	Portal hypertension, noncirrhotic	.		57
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	DGUOK CL E G H	1716	2858	OMIM:617068	Portal hypertension, noncirrhotic			57
HP:0002012	HP:0001744	Splenomegaly	3	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040283 - Occasional		72
HP:0002012	HP:0001394	Cirrhosis	3	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0002012	HP:0001396	Cholestasis	3	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0002012	HP:0001744	Splenomegaly	3	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0002012	HP:0002240	Hepatomegaly	3	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional		159
HP:0002012	HP:0031137	Storage in hepatocytes	3	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0002012	HP:0002240	Hepatomegaly	3	DHDDS CL E G H	79947	20603	OMIM:613861	Retinitis pigmentosa 59	.		47
HP:0002012	HP:0001396	Cholestasis	3	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency			7
HP:0002012	HP:0002240	Hepatomegaly	3	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	.		7
HP:0002012	HP:0002240	Hepatomegaly	3	DIS3L2 CL E G H	129563	28648	ORPHA:2849	Perlman syndrome	HP:0040281 - Very frequent		164
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome			164
HP:0002012	HP:0001394	Cirrhosis	3	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		65
HP:0002012	HP:0001744	Splenomegaly	3	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		65
HP:0002012	HP:0002240	Hepatomegaly	3	DKC1 CL E G H	1736	2890	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		65
HP:0002012	HP:0001394	Cirrhosis	3	DKC1 CL E G H	1736	2890	OMIM:305000	Dyskeratosis congenita, X-linked	.		65
HP:0002012	HP:0002240	Hepatomegaly	3	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency	HP:0040283 - Occasional		89
HP:0002012	HP:0002240	Hepatomegaly	3	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040282 - Frequent		89
HP:0002012	HP:0001744	Splenomegaly	3	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002012	HP:0002240	Hepatomegaly	3	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:0002012	HP:0002884	Hepatoblastoma	3	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:0002012	HP:0001394	Cirrhosis	3	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		9
HP:0002012	HP:0001395	Hepatic fibrosis	3	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0002012	HP:0001395	Hepatic fibrosis	3	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6	HP:0040283 - Occasional		9
HP:0002012	HP:0001744	Splenomegaly	3	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6			9
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6			9
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1			152
HP:0002012	HP:0009799	Supernumerary spleens	3	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0002012	HP:0009799	Supernumerary spleens	3	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0009799	Supernumerary spleens	3	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0002012	HP:0009799	Supernumerary spleens	3	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0002012	HP:0009799	Supernumerary spleens	3	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0002012	HP:0009799	Supernumerary spleens	3	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0002012	HP:0009799	Supernumerary spleens	3	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0009799	Supernumerary spleens	3	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0002012	HP:0009799	Supernumerary spleens	3	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0002012	HP:0009799	Supernumerary spleens	3	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0002012	HP:0009799	Supernumerary spleens	3	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1			73
HP:0002012	HP:0009799	Supernumerary spleens	3	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0002012	HP:0009799	Supernumerary spleens	3	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0002012	HP:0001737	Pancreatic cysts	3	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional
HP:0002012	HP:0006706	Cystic liver disease	3	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0002012	HP:0006706	Cystic liver disease	3	DNAJB11 CL E G H	51726	14889	OMIM:618061	Polycystic kidney disease 6 with or without polycystic liver disease
HP:0002012	HP:0009799	Supernumerary spleens	3	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0002012	HP:0031137	Storage in hepatocytes	3	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V			25
HP:0002012	HP:0031137	Storage in hepatocytes	3	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3			5
HP:0002012	HP:0002240	Hepatomegaly	3	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare		5
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome			5
HP:0002012	HP:0012094	Abnormal pancreas size	3	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome			5
HP:0002012	HP:0002240	Hepatomegaly	3	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.		5
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1			5
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0002012	HP:0009799	Supernumerary spleens	3	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0002012	HP:0001744	Splenomegaly	3	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040283 - Occasional		3
HP:0002012	HP:0002240	Hepatomegaly	3	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040283 - Occasional		3
HP:0002012	HP:0001395	Hepatic fibrosis	3	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0002012	HP:0001396	Cholestasis	3	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0002012	HP:0001744	Splenomegaly	3	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0002012	HP:0002240	Hepatomegaly	3	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0002012	HP:0002240	Hepatomegaly	3	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40			6
HP:0002012	HP:0031137	Storage in hepatocytes	3	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40			6
HP:0002012	HP:0001394	Cirrhosis	3	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		18
HP:0002012	HP:0001395	Hepatic fibrosis	3	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0002012	HP:0001396	Cholestasis	3	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij			38
HP:0002012	HP:0002240	Hepatomegaly	3	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040283 - Occasional		38
HP:0002012	HP:0002884	Hepatoblastoma	3	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare
HP:0002012	HP:0001744	Splenomegaly	3	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.		27
HP:0002012	HP:0002240	Hepatomegaly	3	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.		27
HP:0002012	HP:0001395	Hepatic fibrosis	3	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional		27
HP:0002012	HP:0001744	Splenomegaly	3	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0002012	HP:0002240	Hepatomegaly	3	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional		27
HP:0002012	HP:0031137	Storage in hepatocytes	3	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0002012	HP:0002240	Hepatomegaly	3	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040283 - Occasional		26
HP:0002012	HP:0009799	Supernumerary spleens	3	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0002012	HP:0001396	Cholestasis	3	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis			121
HP:0002012	HP:0001396	Cholestasis	3	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism			121
HP:0002012	HP:0001396	Cholestasis	3	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis			11
HP:0002012	HP:0001395	Hepatic fibrosis	3	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			304
HP:0002012	HP:0100732	Pancreatic fibrosis	3	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI	.
HP:0002012	HP:0001395	Hepatic fibrosis	3	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0002012	HP:0001395	Hepatic fibrosis	3	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0002012	HP:0001744	Splenomegaly	3	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	.		7
HP:0002012	HP:0002240	Hepatomegaly	3	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	.		7
HP:0002012	HP:0001080	Biliary tract abnormality	3	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0002012	HP:0001395	Hepatic fibrosis	3	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040281 - Very frequent		4
HP:0002012	HP:0001396	Cholestasis	3	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		4
HP:0002012	HP:0001737	Pancreatic cysts	3	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040284 - Very rare		4
HP:0002012	HP:0001744	Splenomegaly	3	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		4
HP:0002012	HP:0001971	Hypersplenism	3	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		4
HP:0002012	HP:0002240	Hepatomegaly	3	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0002012	HP:0002884	Hepatoblastoma	3	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional		4
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0002012	HP:0001744	Splenomegaly	3	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5			4
HP:0002012	HP:0002240	Hepatomegaly	3	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5			4
HP:0002012	HP:0001396	Cholestasis	3	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	HP:0040283 - Occasional		80
HP:0002012	HP:0002240	Hepatomegaly	3	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	HP:0040283 - Occasional		80
HP:0002012	HP:0031137	Storage in hepatocytes	3	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12			80
HP:0002012	HP:0001394	Cirrhosis	3	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis			3
HP:0002012	HP:0002240	Hepatomegaly	3	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare		1
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome			1
HP:0002012	HP:0012094	Abnormal pancreas size	3	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome			1
HP:0002012	HP:0002240	Hepatomegaly	3	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2	.		1
HP:0002012	HP:0006276	Hyperechogenic pancreas	3	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2	.		1
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2			1
HP:0002012	HP:0002240	Hepatomegaly	3	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.		65
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0002012	HP:0001396	Cholestasis	3	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0002012	HP:0002240	Hepatomegaly	3	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040283 - Occasional		65
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0002012	HP:0001394	Cirrhosis	3	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		186
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia			186
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia			186
HP:0002012	HP:0001394	Cirrhosis	3	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.		186
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1			186
HP:0002012	HP:0005213	Pancreatic calcification	3	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		151
HP:0002012	HP:0006559	Hepatic calcification	3	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040281 - Very frequent		151
HP:0002012	HP:0001394	Cirrhosis	3	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		4
HP:0002012	HP:0001395	Hepatic fibrosis	3	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0002012	HP:0009799	Supernumerary spleens	3	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0002012	HP:0031207	Hepatic hemangioma	3	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0002012	HP:0001396	Cholestasis	3	EPB41 CL E G H	2035	3377	OMIM:611804	Elliptocytosis 1			6
HP:0002012	HP:0001744	Splenomegaly	3	EPB41 CL E G H	2035	3377	OMIM:611804	Elliptocytosis 1	.		6
HP:0002012	HP:0001396	Cholestasis	3	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis			6
HP:0002012	HP:0001744	Splenomegaly	3	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		6
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis			6
HP:0002012	HP:0001396	Cholestasis	3	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis			51
HP:0002012	HP:0001744	Splenomegaly	3	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		51
HP:0002012	HP:0002240	Hepatomegaly	3	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		51
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis			51
HP:0002012	HP:0001396	Cholestasis	3	EPB42 CL E G H	2038	3381	OMIM:612690	SPHEROCYTOSIS, TYPE 5; SPH5			51
HP:0002012	HP:0001744	Splenomegaly	3	EPB42 CL E G H	2038	3381	OMIM:612690	SPHEROCYTOSIS, TYPE 5; SPH5			51
HP:0002012	HP:0001396	Cholestasis	3	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy			170
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		170
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		170
HP:0002012	HP:0001733	Pancreatitis	3	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0002012	HP:0001744	Splenomegaly	3	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0002012	HP:0001744	Splenomegaly	3	ERBB3 CL E G H	2065	3431	OMIM:133180	Erythroleukemia, familial, susceptibility to	.		12
HP:0002012	HP:0002240	Hepatomegaly	3	ERBB3 CL E G H	2065	3431	OMIM:133180	Erythroleukemia, familial, susceptibility to	.		12
HP:0002012	HP:0002240	Hepatomegaly	3	ERCC1 CL E G H	2067	3433	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		20
HP:0002012	HP:0002240	Hepatomegaly	3	ERCC4 CL E G H	2072	3436	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		158
HP:0002012	HP:0001080	Biliary tract abnormality	3	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q			158
HP:0002012	HP:0002240	Hepatomegaly	3	ERCC6 CL E G H	2074	3438	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		199
HP:0002012	HP:0002240	Hepatomegaly	3	ERCC6 CL E G H	2074	3438	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		199
HP:0002012	HP:0001744	Splenomegaly	3	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare		199
HP:0002012	HP:0002240	Hepatomegaly	3	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		199
HP:0002012	HP:0001744	Splenomegaly	3	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0002012	HP:0002240	Hepatomegaly	3	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0002012	HP:0001744	Splenomegaly	3	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0002012	HP:0002240	Hepatomegaly	3	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0002012	HP:0002240	Hepatomegaly	3	ERCC8 CL E G H	1161	3439	ORPHA:90321	Cockayne syndrome type 1	HP:0040283 - Occasional		55
HP:0002012	HP:0002240	Hepatomegaly	3	ERCC8 CL E G H	1161	3439	ORPHA:90322	Cockayne syndrome type 2	HP:0040283 - Occasional		55
HP:0002012	HP:0001744	Splenomegaly	3	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare		55
HP:0002012	HP:0002240	Hepatomegaly	3	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional		55
HP:0002012	HP:0001080	Biliary tract abnormality	3	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0002012	HP:0009799	Supernumerary spleens	3	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0002012	HP:0001396	Cholestasis	3	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			37
HP:0002012	HP:0002240	Hepatomegaly	3	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		37
HP:0002012	HP:0002605	Hepatic necrosis	3	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			37
HP:0002012	HP:0031137	Storage in hepatocytes	3	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			37
HP:0002012	HP:0001396	Cholestasis	3	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			27
HP:0002012	HP:0002240	Hepatomegaly	3	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		27
HP:0002012	HP:0002605	Hepatic necrosis	3	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			27
HP:0002012	HP:0031137	Storage in hepatocytes	3	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			27
HP:0002012	HP:0001396	Cholestasis	3	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			77
HP:0002012	HP:0002240	Hepatomegaly	3	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		77
HP:0002012	HP:0002605	Hepatic necrosis	3	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			77
HP:0002012	HP:0031137	Storage in hepatocytes	3	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			77
HP:0002012	HP:0002240	Hepatomegaly	3	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040282 - Frequent
HP:0002012	HP:0009799	Supernumerary spleens	3	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0002012	HP:0006706	Cystic liver disease	3	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities			3
HP:0002012	HP:0002240	Hepatomegaly	3	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0002012	HP:0001394	Cirrhosis	3	F5 CL E G H	2153	3542	OMIM:600880	Budd-Chiari syndrome	.		159
HP:0002012	HP:0001394	Cirrhosis	3	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome	HP:0040282 - Frequent		159
HP:0002012	HP:0001396	Cholestasis	3	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome			159
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	F5 CL E G H	2153	3542	OMIM:600880	Budd-Chiari syndrome	.		159
HP:0002012	HP:0001744	Splenomegaly	3	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome	HP:0040281 - Very frequent		159
HP:0002012	HP:0002240	Hepatomegaly	3	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome	HP:0040282 - Frequent		159
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome			159
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome			159
HP:0002012	HP:0001395	Hepatic fibrosis	3	FADD CL E G H	8772	3573	ORPHA:306550	FADD-related immunodeficiency	HP:0040282 - Frequent		3
HP:0002012	HP:0033196	Portal inflammation	3	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS			3
HP:0002012	HP:0001395	Hepatic fibrosis	3	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS			3
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	FAH CL E G H	2184	3579	ORPHA:882	Tyrosinemia type 1	HP:0040283 - Occasional		107
HP:0002012	HP:0001744	Splenomegaly	3	FAH CL E G H	2184	3579	ORPHA:882	Tyrosinemia type 1	HP:0040283 - Occasional		107
HP:0002012	HP:0002240	Hepatomegaly	3	FAH CL E G H	2184	3579	ORPHA:882	Tyrosinemia type 1	HP:0040283 - Occasional		107
HP:0002012	HP:0001394	Cirrhosis	3	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.		107
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.		107
HP:0002012	HP:0001744	Splenomegaly	3	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.		107
HP:0002012	HP:0002240	Hepatomegaly	3	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.		107
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia			8
HP:0002012	HP:0002240	Hepatomegaly	3	FAM111B CL E G H	374393	24200	OMIM:615704	Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis	.		6
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		15
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		15
HP:0002012	HP:0001734	Annular pancreas	3	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0002012	HP:0040134	Abnormal hepatic iron concentration	3	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14			36
HP:0002012	HP:0500030	Abnormal hepatic glycogen storage	3	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14			36
HP:0002012	HP:0001744	Splenomegaly	3	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0002012	HP:0002240	Hepatomegaly	3	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0002012	HP:0031137	Storage in hepatocytes	3	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0002012	HP:0001080	Biliary tract abnormality	3	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002012	HP:0001394	Cirrhosis	3	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002012	HP:0001396	Cholestasis	3	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002012	HP:0031137	Storage in hepatocytes	3	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		59
HP:0002012	HP:0001744	Splenomegaly	3	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040281 - Very frequent		59
HP:0002012	HP:0001744	Splenomegaly	3	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.		59
HP:0002012	HP:0001971	Hypersplenism	3	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent		59
HP:0002012	HP:0002240	Hepatomegaly	3	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent		59
HP:0002012	HP:0002240	Hepatomegaly	3	FAS CL E G H	355	11920	OMIM:601859	Autoimmune lymphoproliferative syndrome	.		59
HP:0002012	HP:0012115	Hepatitis	3	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional		59
HP:0002012	HP:0001733	Pancreatitis	3	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional		59
HP:0002012	HP:0001744	Splenomegaly	3	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional		59
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		37
HP:0002012	HP:0001744	Splenomegaly	3	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040281 - Very frequent		37
HP:0002012	HP:0001744	Splenomegaly	3	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.		37
HP:0002012	HP:0001971	Hypersplenism	3	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent		37
HP:0002012	HP:0002240	Hepatomegaly	3	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent		37
HP:0002012	HP:0002240	Hepatomegaly	3	FASLG CL E G H	356	11936	OMIM:601859	Autoimmune lymphoproliferative syndrome	.		37
HP:0002012	HP:0012115	Hepatitis	3	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional		37
HP:0002012	HP:0001744	Splenomegaly	3	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040282 - Frequent		114
HP:0002012	HP:0002240	Hepatomegaly	3	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2			1361
HP:0002012	HP:0002240	Hepatomegaly	3	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional		64
HP:0002012	HP:0002240	Hepatomegaly	3	FBP1 CL E G H	2203	3606	OMIM:229700	Fructose-1,6-Bisphosphatase deficiency	.		64
HP:0002012	HP:0031137	Storage in hepatocytes	3	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency			64
HP:0002012	HP:0001080	Biliary tract abnormality	3	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0002012	HP:0001394	Cirrhosis	3	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0002012	HP:0001733	Pancreatitis	3	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0002012	HP:0001744	Splenomegaly	3	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0002012	HP:0002240	Hepatomegaly	3	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0002012	HP:0001396	Cholestasis	3	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia			5
HP:0002012	HP:0001744	Splenomegaly	3	FCHO1 CL E G H	23149	29002	OMIM:619164	IMMUNODEFICIENCY 76; IMD76
HP:0002012	HP:0002240	Hepatomegaly	3	FDX2 CL E G H	112812	30546	OMIM:251900	Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy	.
HP:0002012	HP:0001394	Cirrhosis	3	FECH CL E G H	2235	3647	ORPHA:79278	Autosomal erythropoietic protoporphyria	HP:0040283 - Occasional		145
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	FECH CL E G H	2235	3647	ORPHA:79278	Autosomal erythropoietic protoporphyria			145
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1			145
HP:0002012	HP:0001744	Splenomegaly	3	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III			23
HP:0002012	HP:0002240	Hepatomegaly	3	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III	.		23
HP:0002012	HP:0012223	Splenic rupture	3	FGA CL E G H	2243	3661	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included	.		47
HP:0002012	HP:0001396	Cholestasis	3	FGA CL E G H	2243	3661	OMIM:105200	Amyloidosis, familial visceral	.		47
HP:0002012	HP:0001744	Splenomegaly	3	FGA CL E G H	2243	3661	OMIM:105200	Amyloidosis, familial visceral	.		47
HP:0002012	HP:0002240	Hepatomegaly	3	FGA CL E G H	2243	3661	OMIM:105200	Amyloidosis, familial visceral	.		47
HP:0002012	HP:0012223	Splenic rupture	3	FGB CL E G H	2244	3662	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included	.		62
HP:0002012	HP:0001744	Splenomegaly	3	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome			175
HP:0002012	HP:0002240	Hepatomegaly	3	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome			175
HP:0002012	HP:0001744	Splenomegaly	3	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0002012	HP:0002240	Hepatomegaly	3	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia			175
HP:0002012	HP:0001080	Biliary tract abnormality	3	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional
HP:0002012	HP:0009799	Supernumerary spleens	3	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0002012	HP:0012223	Splenic rupture	3	FGG CL E G H	2266	3694	OMIM:202400	Afibrinogenemia, congenitalhypofibrinogenemia, congenital, included	.		34
HP:0002012	HP:0001396	Cholestasis	3	FH CL E G H	2271	3700	OMIM:606812	Fumarase deficiency	.		301
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0002012	HP:0001734	Annular pancreas	3	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040283 - Occasional		8
HP:0002012	HP:0001396	Cholestasis	3	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor			8
HP:0002012	HP:0001733	Pancreatitis	3	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional		8
HP:0002012	HP:0030992	Abnormal pancreatic duct morphology	3	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040283 - Occasional		233
HP:0002012	HP:0002240	Hepatomegaly	3	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		197
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional		11
HP:0002012	HP:0001744	Splenomegaly	3	FMO3 CL E G H	2328	3771	OMIM:602079	Trimethylaminuria	.		55
HP:0002012	HP:0033196	Portal inflammation	3	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0001080	Biliary tract abnormality	3	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0001396	Cholestasis	3	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0001406	Intrahepatic cholestasis	3	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0001744	Splenomegaly	3	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0002240	Hepatomegaly	3	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0040134	Abnormal hepatic iron concentration	3	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0500030	Abnormal hepatic glycogen storage	3	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0012094	Abnormal pancreas size	3	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0030146	Abnormal liver parenchyma morphology	3	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0031137	Storage in hepatocytes	3	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0031140	Abnormal liver sonography	3	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0001394	Cirrhosis	3	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0002012	HP:0002240	Hepatomegaly	3	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent
HP:0002012	HP:0031137	Storage in hepatocytes	3	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0002012	HP:0001734	Annular pancreas	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0002012	HP:0001734	Annular pancreas	3	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional		61
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0002012	HP:0009799	Supernumerary spleens	3	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0001744	Splenomegaly	3	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040284 - Very rare		32
HP:0002012	HP:0012115	Hepatitis	3	FOXP3 CL E G H	50943	6106	ORPHA:37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	HP:0040283 - Occasional		32
HP:0002012	HP:0012115	Hepatitis	3	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked			32
HP:0002012	HP:0002240	Hepatomegaly	3	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		61
HP:0002012	HP:0001744	Splenomegaly	3	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.		43
HP:0002012	HP:0002240	Hepatomegaly	3	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.		43
HP:0002012	HP:0002240	Hepatomegaly	3	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis	HP:0040281 - Very frequent		43
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis	HP:0040282 - Frequent		43
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0002012	HP:0001733	Pancreatitis	3	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0002012	HP:0002240	Hepatomegaly	3	G6PC1 CL E G H	2538	4056	OMIM:232200	Glycogen storage disease ia	.
HP:0002012	HP:0001744	Splenomegaly	3	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.		37
HP:0002012	HP:0002240	Hepatomegaly	3	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.		37
HP:0002012	HP:0001396	Cholestasis	3	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			101
HP:0002012	HP:0001744	Splenomegaly	3	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency	HP:0040284 - Very rare		101
HP:0002012	HP:0002240	Hepatomegaly	3	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:0002012	HP:0001744	Splenomegaly	3	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II	.		407
HP:0002012	HP:0002240	Hepatomegaly	3	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II	.		407
HP:0002012	HP:0001734	Annular pancreas	3	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0002012	HP:0031137	Storage in hepatocytes	3	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0002012	HP:0001396	Cholestasis	3	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency			52
HP:0002012	HP:0001744	Splenomegaly	3	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency	.		52
HP:0002012	HP:0002240	Hepatomegaly	3	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency	.		52
HP:0002012	HP:0001396	Cholestasis	3	GALK1 CL E G H	2584	4118	OMIM:230200	Galactokinase deficiency			23
HP:0002012	HP:0001744	Splenomegaly	3	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency			23
HP:0002012	HP:0002240	Hepatomegaly	3	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040283 - Occasional		23
HP:0002012	HP:0001396	Cholestasis	3	GALM CL E G H	130589	24063	ORPHA:570422	Galactose mutarotase deficiency	HP:0040283 - Occasional
HP:0002012	HP:0002240	Hepatomegaly	3	GALM CL E G H	130589	24063	ORPHA:570422	Galactose mutarotase deficiency	HP:0040284 - Very rare
HP:0002012	HP:0001396	Cholestasis	3	GALM CL E G H	130589	24063	OMIM:618881	GALACTOSEMIA IV; GALAC4
HP:0002012	HP:0002240	Hepatomegaly	3	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.		123
HP:0002012	HP:0001396	Cholestasis	3	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia			351
HP:0002012	HP:0002240	Hepatomegaly	3	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040282 - Frequent		351
HP:0002012	HP:0001394	Cirrhosis	3	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA	.		351
HP:0002012	HP:0002240	Hepatomegaly	3	GALT CL E G H	2592	4135	OMIM:230400	GALACTOSEMIA	.		351
HP:0002012	HP:0001737	Pancreatic cysts	3	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional		6
HP:0002012	HP:0006706	Cystic liver disease	3	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease			6
HP:0002012	HP:0006706	Cystic liver disease	3	GANAB CL E G H	23193	4138	OMIM:600666	Polycystic kidney disease 3			6
HP:0002012	HP:0009799	Supernumerary spleens	3	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0002012	HP:0009799	Supernumerary spleens	3	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0002012	HP:0001744	Splenomegaly	3	GATA1 CL E G H	2623	4170	ORPHA:231393	Beta-thalassemia-X-linked thrombocytopenia syndrome	HP:0040281 - Very frequent		29
HP:0002012	HP:0001744	Splenomegaly	3	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		29
HP:0002012	HP:0001744	Splenomegaly	3	GATA1 CL E G H	2623	4170	OMIM:314050	Thrombocytopenia with beta-thalassemia, X-linked	.		29
HP:0002012	HP:0001744	Splenomegaly	3	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040282 - Frequent		137
HP:0002012	HP:0002240	Hepatomegaly	3	GATA2 CL E G H	2624	4171	ORPHA:3226	Deafness-lymphedema-leukemia syndrome	HP:0040282 - Frequent		137
HP:0002012	HP:0001080	Biliary tract abnormality	3	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0002012	HP:0012094	Abnormal pancreas size	3	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0002012	HP:0001080	Biliary tract abnormality	3	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0002012	HP:0012094	Abnormal pancreas size	3	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0002012	HP:0001744	Splenomegaly	3	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease	HP:0040282 - Frequent
HP:0002012	HP:0002240	Hepatomegaly	3	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease	HP:0040282 - Frequent
HP:0002012	HP:0001080	Biliary tract abnormality	3	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0002012	HP:0001394	Cirrhosis	3	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional
HP:0002012	HP:0001744	Splenomegaly	3	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent
HP:0002012	HP:0001971	Hypersplenism	3	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent
HP:0002012	HP:0002240	Hepatomegaly	3	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent
HP:0002012	HP:0001744	Splenomegaly	3	GBA1 CL E G H	2629	4177	ORPHA:77260	Gaucher disease type 2	HP:0040281 - Very frequent
HP:0002012	HP:0002240	Hepatomegaly	3	GBA1 CL E G H	2629	4177	ORPHA:77260	Gaucher disease type 2	HP:0040281 - Very frequent
HP:0002012	HP:0001744	Splenomegaly	3	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040281 - Very frequent
HP:0002012	HP:0002240	Hepatomegaly	3	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040281 - Very frequent
HP:0002012	HP:0001744	Splenomegaly	3	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0002012	HP:0002240	Hepatomegaly	3	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0002012	HP:0001744	Splenomegaly	3	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I	.
HP:0002012	HP:0001971	Hypersplenism	3	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I	.
HP:0002012	HP:0002240	Hepatomegaly	3	GBA1 CL E G H	2629	4177	OMIM:230800	Gaucher disease, type I	.
HP:0002012	HP:0001744	Splenomegaly	3	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II	.
HP:0002012	HP:0002240	Hepatomegaly	3	GBA1 CL E G H	2629	4177	OMIM:230900	Gaucher disease, type II	.
HP:0002012	HP:0001744	Splenomegaly	3	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III	.
HP:0002012	HP:0002240	Hepatomegaly	3	GBA1 CL E G H	2629	4177	OMIM:231000	Gaucher disease, type III	.
HP:0002012	HP:0001744	Splenomegaly	3	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC	.
HP:0002012	HP:0002240	Hepatomegaly	3	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC	.
HP:0002012	HP:0001395	Hepatic fibrosis	3	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0002012	HP:0001744	Splenomegaly	3	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0002012	HP:0002240	Hepatomegaly	3	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0002012	HP:0001394	Cirrhosis	3	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV	.		86
HP:0002012	HP:0001744	Splenomegaly	3	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV			86
HP:0002012	HP:0002240	Hepatomegaly	3	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV			86
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV			86
HP:0002012	HP:0002240	Hepatomegaly	3	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I	.		115
HP:0002012	HP:0001080	Biliary tract abnormality	3	GCGR CL E G H	2642	4192	ORPHA:438274	GCGR-related hyperglucagonemia			1
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	GCGR CL E G H	2642	4192	ORPHA:438274	GCGR-related hyperglucagonemia			1
HP:0002012	HP:0001733	Pancreatitis	3	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH			1
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH			1
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0002012	HP:0012094	Abnormal pancreas size	3	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0002012	HP:0012028	Hepatocellular adenoma	3	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040284 - Very rare		237
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	GCK CL E G H	2645	4195	ORPHA:552	MODY			237
HP:0002012	HP:0012094	Abnormal pancreas size	3	GCK CL E G H	2645	4195	ORPHA:552	MODY			237
HP:0002012	HP:0001394	Cirrhosis	3	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis			2
HP:0002012	HP:0001396	Cholestasis	3	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency			2
HP:0002012	HP:0001744	Splenomegaly	3	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency			2
HP:0002012	HP:0002240	Hepatomegaly	3	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency			2
HP:0002012	HP:0009799	Supernumerary spleens	3	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0002012	HP:0001394	Cirrhosis	3	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		8
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia			8
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia			8
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	GDF2 CL E G H	2658	4217	OMIM:615506	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT5			8
HP:0002012	HP:0001744	Splenomegaly	3	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities			1
HP:0002012	HP:0001396	Cholestasis	3	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1			85
HP:0002012	HP:0002240	Hepatomegaly	3	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1	.		85
HP:0002012	HP:0001396	Cholestasis	3	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA			50
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0002012	HP:0001744	Splenomegaly	3	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0002012	HP:0002240	Hepatomegaly	3	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0002012	HP:0011954	Nodular regenerative hyperplasia of liver	3	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0002012	HP:0001744	Splenomegaly	3	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0002012	HP:0002240	Hepatomegaly	3	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0002012	HP:0001744	Splenomegaly	3	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0002012	HP:0002240	Hepatomegaly	3	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0002012	HP:0002240	Hepatomegaly	3	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II	.		120
HP:0002012	HP:0002240	Hepatomegaly	3	GLB1 CL E G H	2720	4298	OMIM:253010	Mucopolysaccharidosis type IVB (Morquio)	.		120
HP:0002012	HP:0001395	Hepatic fibrosis	3	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	.		143
HP:0002012	HP:0001396	Cholestasis	3	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	.		143
HP:0002012	HP:0001737	Pancreatic cysts	3	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	HP:0040283 - Occasional		143
HP:0002012	HP:0001744	Splenomegaly	3	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	HP:0040283 - Occasional		143
HP:0002012	HP:0002240	Hepatomegaly	3	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	.		143
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0002012	HP:0012094	Abnormal pancreas size	3	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0002012	HP:0012115	Hepatitis	3	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	.		143
HP:0002012	HP:0030423	Splenic cyst	3	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	HP:0040283 - Occasional		143
HP:0002012	HP:0001394	Cirrhosis	3	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory	HP:0040283 - Occasional		17
HP:0002012	HP:0001396	Cholestasis	3	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory			17
HP:0002012	HP:0001744	Splenomegaly	3	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory	.		17
HP:0002012	HP:0002240	Hepatomegaly	3	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory	.		17
HP:0002012	HP:0040134	Abnormal hepatic iron concentration	3	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory			17
HP:0002012	HP:0001733	Pancreatitis	3	GNA11 CL E G H	2767	4379	OMIM:145981	Hypocalciuric hypercalcemia, familial, type II	.		16
HP:0002012	HP:0031137	Storage in hepatocytes	3	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0002012	HP:0001396	Cholestasis	3	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040284 - Very rare		101
HP:0002012	HP:0001733	Pancreatitis	3	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040283 - Occasional		101
HP:0002012	HP:0012028	Hepatocellular adenoma	3	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040283 - Occasional		101
HP:0002012	HP:0012115	Hepatitis	3	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040284 - Very rare		101
HP:0002012	HP:0001396	Cholestasis	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002012	HP:0001744	Splenomegaly	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002012	HP:0002240	Hepatomegaly	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002012	HP:0031137	Storage in hepatocytes	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002012	HP:0001744	Splenomegaly	3	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0002012	HP:0001744	Splenomegaly	3	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.		173
HP:0002012	HP:0002240	Hepatomegaly	3	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent		173
HP:0002012	HP:0002240	Hepatomegaly	3	GNE CL E G H	10020	23657	OMIM:269921	SIALURIA	.		173
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0002012	HP:0002240	Hepatomegaly	3	GNMT CL E G H	27232	4415	OMIM:606664	GLYCINE N-METHYLTRANSFERASE DEFICIENCY	.		3
HP:0002012	HP:0001744	Splenomegaly	3	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.		240
HP:0002012	HP:0002240	Hepatomegaly	3	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.		240
HP:0002012	HP:0001744	Splenomegaly	3	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040284 - Very rare		240
HP:0002012	HP:0002240	Hepatomegaly	3	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0002012	HP:0001744	Splenomegaly	3	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.		69
HP:0002012	HP:0002240	Hepatomegaly	3	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.		69
HP:0002012	HP:0001744	Splenomegaly	3	GP1BA CL E G H	2811	4439	OMIM:153670	Bernard-Soulier syndrome, type A2, autosomal dominant	.		23
HP:0002012	HP:0001744	Splenomegaly	3	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0002012	HP:0001744	Splenomegaly	3	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent		73
HP:0002012	HP:0002240	Hepatomegaly	3	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent		73
HP:0002012	HP:0002884	Hepatoblastoma	3	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional		73
HP:0002012	HP:0009799	Supernumerary spleens	3	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0002012	HP:0001744	Splenomegaly	3	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0002012	HP:0002240	Hepatomegaly	3	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0002012	HP:0002884	Hepatoblastoma	3	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0002012	HP:0009799	Supernumerary spleens	3	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0002012	HP:0001744	Splenomegaly	3	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent
HP:0002012	HP:0002240	Hepatomegaly	3	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent
HP:0002012	HP:0002884	Hepatoblastoma	3	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0002012	HP:0009799	Supernumerary spleens	3	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0002012	HP:0001744	Splenomegaly	3	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002012	HP:0002240	Hepatomegaly	3	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002012	HP:0002884	Hepatoblastoma	3	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002012	HP:0009799	Supernumerary spleens	3	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002012	HP:0001395	Hepatic fibrosis	3	GPD1 CL E G H	2819	4455	OMIM:614480	Hypertriglyceridemia, transient infantile	.		3
HP:0002012	HP:0001744	Splenomegaly	3	GPD1 CL E G H	2819	4455	OMIM:614480	Hypertriglyceridemia, transient infantile	HP:0040283 - Occasional		3
HP:0002012	HP:0002240	Hepatomegaly	3	GPD1 CL E G H	2819	4455	OMIM:614480	Hypertriglyceridemia, transient infantile	.		3
HP:0002012	HP:0031137	Storage in hepatocytes	3	GPD1 CL E G H	2819	4455	OMIM:614480	Hypertriglyceridemia, transient infantile			3
HP:0002012	HP:0001396	Cholestasis	3	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency			12
HP:0002012	HP:0001744	Splenomegaly	3	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency	.		12
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency			12
HP:0002012	HP:0001733	Pancreatitis	3	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID			12
HP:0002012	HP:0001744	Splenomegaly	3	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID	.		12
HP:0002012	HP:0002240	Hepatomegaly	3	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID	.		12
HP:0002012	HP:0001080	Biliary tract abnormality	3	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0002012	HP:0001394	Cirrhosis	3	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		2
HP:0002012	HP:0001395	Hepatic fibrosis	3	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		2
HP:0002012	HP:0001396	Cholestasis	3	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040281 - Very frequent		2
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		2
HP:0002012	HP:0001733	Pancreatitis	3	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		2
HP:0002012	HP:0001744	Splenomegaly	3	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		2
HP:0002012	HP:0002240	Hepatomegaly	3	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		2
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0002012	HP:0012115	Hepatitis	3	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		2
HP:0002012	HP:0001394	Cirrhosis	3	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis			1
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0002012	HP:0002240	Hepatomegaly	3	GUCY2D CL E G H	3000	4689	OMIM:204000	Leber congenital amaurosis, type I	.		124
HP:0002012	HP:0001744	Splenomegaly	3	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7	HP:0040282 - Frequent		54
HP:0002012	HP:0012115	Hepatitis	3	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7	HP:0040282 - Frequent		54
HP:0002012	HP:0001744	Splenomegaly	3	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.		54
HP:0002012	HP:0002240	Hepatomegaly	3	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.		54
HP:0002012	HP:0001396	Cholestasis	3	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis			5
HP:0002012	HP:0001744	Splenomegaly	3	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		5
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis			5
HP:0002012	HP:0002240	Hepatomegaly	3	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0002012	HP:0002884	Hepatoblastoma	3	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0002012	HP:0012094	Abnormal pancreas size	3	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	H19-ICR CL E G H	105259599		OMIM:180860	Silver-Russell syndrome	.
HP:0002012	HP:0002605	Hepatic necrosis	3	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency	.		41
HP:0002012	HP:0031137	Storage in hepatocytes	3	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency			41
HP:0002012	HP:0002605	Hepatic necrosis	3	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare		41
HP:0002012	HP:0031137	Storage in hepatocytes	3	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency			41
HP:0002012	HP:0001396	Cholestasis	3	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency			99
HP:0002012	HP:0002240	Hepatomegaly	3	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent		99
HP:0002012	HP:0002240	Hepatomegaly	3	HADHA CL E G H	3030	4801	OMIM:609016	Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency	.	HP:0003593 - Infantile onset	99
HP:0002012	HP:0001396	Cholestasis	3	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional		99
HP:0002012	HP:0001396	Cholestasis	3	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0002012	HP:0031137	Storage in hepatocytes	3	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0002012	HP:0001396	Cholestasis	3	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0002012	HP:0001396	Cholestasis	3	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040283 - Occasional		60
HP:0002012	HP:0031137	Storage in hepatocytes	3	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0002012	HP:0001395	Hepatic fibrosis	3	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2			15
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2	HP:0040283 - Occasional		15
HP:0002012	HP:0001394	Cirrhosis	3	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B			15
HP:0002012	HP:0001395	Hepatic fibrosis	3	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B			15
HP:0002012	HP:0001744	Splenomegaly	3	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B	.		15
HP:0002012	HP:0002240	Hepatomegaly	3	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B	.		15
HP:0002012	HP:0001744	Splenomegaly	3	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma
HP:0002012	HP:0002240	Hepatomegaly	3	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma
HP:0002012	HP:0001744	Splenomegaly	3	HAVCR2 CL E G H	84868	18437	OMIM:618398	T-CELL LYMPHOMA, SUBCUTANEOUS PANNICULITIS-LIKE	HP:0040284 - Very rare
HP:0002012	HP:0001744	Splenomegaly	3	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040282 - Frequent		200
HP:0002012	HP:0002240	Hepatomegaly	3	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040282 - Frequent		200
HP:0002012	HP:0001744	Splenomegaly	3	HBA1 CL E G H	3039	4823	OMIM:613978	Hemoglobin H disease	.		200
HP:0002012	HP:0002240	Hepatomegaly	3	HBA1 CL E G H	3039	4823	OMIM:613978	Hemoglobin H disease	.		200
HP:0002012	HP:0001744	Splenomegaly	3	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040282 - Frequent		88
HP:0002012	HP:0002240	Hepatomegaly	3	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040282 - Frequent		88
HP:0002012	HP:0001744	Splenomegaly	3	HBA2 CL E G H	3040	4824	OMIM:613978	Hemoglobin H disease	.		88
HP:0002012	HP:0002240	Hepatomegaly	3	HBA2 CL E G H	3040	4824	OMIM:613978	Hemoglobin H disease	.		88
HP:0002012	HP:0001394	Cirrhosis	3	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040284 - Very rare		580
HP:0002012	HP:0001396	Cholestasis	3	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia			580
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040284 - Very rare		580
HP:0002012	HP:0001744	Splenomegaly	3	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040283 - Occasional		580
HP:0002012	HP:0002240	Hepatomegaly	3	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040283 - Occasional		580
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia			580
HP:0002012	HP:0040134	Abnormal hepatic iron concentration	3	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia			580
HP:0002012	HP:0001394	Cirrhosis	3	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040283 - Occasional		580
HP:0002012	HP:0001395	Hepatic fibrosis	3	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040283 - Occasional		580
HP:0002012	HP:0001396	Cholestasis	3	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040284 - Very rare		580
HP:0002012	HP:0001744	Splenomegaly	3	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040282 - Frequent		580
HP:0002012	HP:0001971	Hypersplenism	3	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040282 - Frequent		580
HP:0002012	HP:0002240	Hepatomegaly	3	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040282 - Frequent		580
HP:0002012	HP:0001744	Splenomegaly	3	HBB CL E G H	3043	4827	OMIM:603902	BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE			580
HP:0002012	HP:0002240	Hepatomegaly	3	HBB CL E G H	3043	4827	OMIM:603902	BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE			580
HP:0002012	HP:0001394	Cirrhosis	3	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional		580
HP:0002012	HP:0001395	Hepatic fibrosis	3	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional		580
HP:0002012	HP:0001396	Cholestasis	3	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040284 - Very rare		580
HP:0002012	HP:0001744	Splenomegaly	3	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional		580
HP:0002012	HP:0001971	Hypersplenism	3	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040282 - Frequent		580
HP:0002012	HP:0002240	Hepatomegaly	3	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0002012	HP:0012115	Hepatitis	3	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0002012	HP:0001744	Splenomegaly	3	HBB CL E G H	3043	4827	ORPHA:231242	Hemoglobin C-beta-thalassemia syndrome	HP:0040281 - Very frequent		580
HP:0002012	HP:0001744	Splenomegaly	3	HBB CL E G H	3043	4827	ORPHA:90039	Hemoglobin D disease			580
HP:0002012	HP:0001744	Splenomegaly	3	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease	HP:0040283 - Occasional		580
HP:0002012	HP:0001744	Splenomegaly	3	HBB CL E G H	3043	4827	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040281 - Very frequent		580
HP:0002012	HP:0002240	Hepatomegaly	3	HBB CL E G H	3043	4827	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040282 - Frequent		580
HP:0002012	HP:0001744	Splenomegaly	3	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			580
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			580
HP:0002012	HP:0001396	Cholestasis	3	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040283 - Occasional		580
HP:0002012	HP:0001396	Cholestasis	3	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia			580
HP:0002012	HP:0034336	Splenic infarction	3	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia			580
HP:0002012	HP:0001744	Splenomegaly	3	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia	.		580
HP:0002012	HP:0002240	Hepatomegaly	3	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia	.		580
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia			580
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia			580
HP:0002012	HP:0001744	Splenomegaly	3	HBG1 CL E G H	3047	4831	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040281 - Very frequent		35
HP:0002012	HP:0002240	Hepatomegaly	3	HBG1 CL E G H	3047	4831	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040282 - Frequent		35
HP:0002012	HP:0001744	Splenomegaly	3	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			35
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			35
HP:0002012	HP:0001396	Cholestasis	3	HBG2 CL E G H	3048	4832	OMIM:613977	Cyanosis, transient neonatal			50
HP:0002012	HP:0002240	Hepatomegaly	3	HBG2 CL E G H	3048	4832	OMIM:613977	Cyanosis, transient neonatal	HP:0040283 - Occasional		50
HP:0002012	HP:0001744	Splenomegaly	3	HBG2 CL E G H	3048	4832	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040281 - Very frequent		50
HP:0002012	HP:0002240	Hepatomegaly	3	HBG2 CL E G H	3048	4832	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040282 - Frequent		50
HP:0002012	HP:0001744	Splenomegaly	3	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			50
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			50
HP:0002012	HP:0001396	Cholestasis	3	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0002012	HP:0001744	Splenomegaly	3	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0002012	HP:0002240	Hepatomegaly	3	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0002012	HP:0001744	Splenomegaly	3	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0002012	HP:0002240	Hepatomegaly	3	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0002012	HP:0001394	Cirrhosis	3	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis			38
HP:0002012	HP:0001394	Cirrhosis	3	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1	.		38
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1	.		38
HP:0002012	HP:0001744	Splenomegaly	3	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1	.		38
HP:0002012	HP:0002240	Hepatomegaly	3	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1	.		38
HP:0002012	HP:0001394	Cirrhosis	3	HFE CL E G H	3077	4886	OMIM:176100	Porphyria cutanea tarda	.		38
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	HFE CL E G H	3077	4886	OMIM:176100	Porphyria cutanea tarda	.		38
HP:0002012	HP:0001080	Biliary tract abnormality	3	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0002012	HP:0001394	Cirrhosis	3	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional		38
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional		38
HP:0002012	HP:0001744	Splenomegaly	3	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional		38
HP:0002012	HP:0002240	Hepatomegaly	3	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040282 - Frequent		38
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0002012	HP:0001744	Splenomegaly	3	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.		86
HP:0002012	HP:0002240	Hepatomegaly	3	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.		86
HP:0002012	HP:0001744	Splenomegaly	3	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0002012	HP:0001395	Hepatic fibrosis	3	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2	HP:0040283 - Occasional
HP:0002012	HP:0001394	Cirrhosis	3	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A
HP:0002012	HP:0001744	Splenomegaly	3	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A	.
HP:0002012	HP:0002240	Hepatomegaly	3	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A
HP:0002012	HP:0001396	Cholestasis	3	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency			11
HP:0002012	HP:0001744	Splenomegaly	3	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency	.		11
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency			11
HP:0002012	HP:0001733	Pancreatitis	3	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional		4
HP:0002012	HP:0001744	Splenomegaly	3	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional		4
HP:0002012	HP:0001733	Pancreatitis	3	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional		4
HP:0002012	HP:0001733	Pancreatitis	3	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0002012	HP:0001733	Pancreatitis	3	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		1
HP:0002012	HP:0001744	Splenomegaly	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:545	Follicular lymphoma	HP:0040282 - Frequent		2
HP:0002012	HP:0002240	Hepatomegaly	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		2
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0002012	HP:0030146	Abnormal liver parenchyma morphology	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		2
HP:0002012	HP:0001744	Splenomegaly	3	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	HP:0040283 - Occasional		2
HP:0002012	HP:0002240	Hepatomegaly	3	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1	HP:0040283 - Occasional		2
HP:0002012	HP:0001744	Splenomegaly	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0002012	HP:0002240	Hepatomegaly	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	HMBS CL E G H	3145	4982	ORPHA:79276	Acute intermittent porphyria	HP:0040283 - Occasional		81
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	HMBS CL E G H	3145	4982	OMIM:176000	Porphyria, acute intermittent	.		81
HP:0002012	HP:0001396	Cholestasis	3	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0002012	HP:0001733	Pancreatitis	3	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0002012	HP:0002240	Hepatomegaly	3	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040282 - Frequent		35
HP:0002012	HP:0031137	Storage in hepatocytes	3	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0002012	HP:0002240	Hepatomegaly	3	HMGCL CL E G H	3155	5005	OMIM:246450	3-Hydroxy-3-Methylglutaryl-Coa lyase deficiency	.		35
HP:0002012	HP:0002240	Hepatomegaly	3	HMGCS2 CL E G H	3158	5008	OMIM:605911	3-Hydroxy-3-Methylglutaryl-Coa synthase-2 deficiency	.		42
HP:0002012	HP:0001394	Cirrhosis	3	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis			3
HP:0002012	HP:0002240	Hepatomegaly	3	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D			3
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D			3
HP:0002012	HP:0012028	Hepatocellular adenoma	3	HNF1A CL E G H	6927	11621	OMIM:142330	Hepatic adenomas, familial	.		161
HP:0002012	HP:0002240	Hepatomegaly	3	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040284 - Very rare		161
HP:0002012	HP:0012028	Hepatocellular adenoma	3	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040284 - Very rare		161
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	HNF1A CL E G H	6927	11621	ORPHA:552	MODY			161
HP:0002012	HP:0012094	Abnormal pancreas size	3	HNF1A CL E G H	6927	11621	ORPHA:552	MODY			161
HP:0002012	HP:0012094	Abnormal pancreas size	3	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome			90
HP:0002012	HP:0001396	Cholestasis	3	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease			90
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional		90
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional		90
HP:0002012	HP:0012094	Abnormal pancreas size	3	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease			90
HP:0002012	HP:0031137	Storage in hepatocytes	3	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease			90
HP:0002012	HP:0001080	Biliary tract abnormality	3	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome			90
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome			90
HP:0002012	HP:0012094	Abnormal pancreas size	3	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome			90
HP:0002012	HP:0002240	Hepatomegaly	3	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:0002012	HP:0002240	Hepatomegaly	3	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent		138
HP:0002012	HP:0500030	Abnormal hepatic glycogen storage	3	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0002012	HP:0012028	Hepatocellular adenoma	3	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040284 - Very rare		138
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	HNF4A CL E G H	3172	5024	ORPHA:552	MODY			138
HP:0002012	HP:0012094	Abnormal pancreas size	3	HNF4A CL E G H	3172	5024	ORPHA:552	MODY			138
HP:0002012	HP:0031137	Storage in hepatocytes	3	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			31
HP:0002012	HP:0031137	Storage in hepatocytes	3	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			5
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040283 - Occasional		25
HP:0002012	HP:0001744	Splenomegaly	3	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional		55
HP:0002012	HP:0002240	Hepatomegaly	3	HPGD CL E G H	3248	5154	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional		55
HP:0002012	HP:0001080	Biliary tract abnormality	3	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0002012	HP:0001396	Cholestasis	3	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0002012	HP:0001744	Splenomegaly	3	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0002012	HP:0002240	Hepatomegaly	3	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0002012	HP:0031137	Storage in hepatocytes	3	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0002012	HP:0001394	Cirrhosis	3	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1	.		26
HP:0002012	HP:0001396	Cholestasis	3	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1			26
HP:0002012	HP:0001406	Intrahepatic cholestasis	3	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1	.		26
HP:0002012	HP:0001744	Splenomegaly	3	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1	.		26
HP:0002012	HP:0002240	Hepatomegaly	3	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1	.		26
HP:0002012	HP:0012115	Hepatitis	3	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1			26
HP:0002012	HP:0001080	Biliary tract abnormality	3	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1	HP:0040281 - Very frequent		26
HP:0002012	HP:0001394	Cirrhosis	3	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1	HP:0040283 - Occasional		26
HP:0002012	HP:0001396	Cholestasis	3	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1			26
HP:0002012	HP:0001744	Splenomegaly	3	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1	HP:0040282 - Frequent		26
HP:0002012	HP:0002240	Hepatomegaly	3	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1	HP:0040281 - Very frequent		26
HP:0002012	HP:0001734	Annular pancreas	3	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0002012	HP:0031137	Storage in hepatocytes	3	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0002012	HP:0001396	Cholestasis	3	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0002012	HP:0009799	Supernumerary spleens	3	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0002012	HP:0009799	Supernumerary spleens	3	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0002012	HP:0002240	Hepatomegaly	3	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0002012	HP:0001396	Cholestasis	3	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0002012	HP:0002240	Hepatomegaly	3	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia	.
HP:0002012	HP:0001395	Hepatic fibrosis	3	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040282 - Frequent
HP:0002012	HP:0001396	Cholestasis	3	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040282 - Frequent
HP:0002012	HP:0001744	Splenomegaly	3	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0002012	HP:0002240	Hepatomegaly	3	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0002012	HP:0031137	Storage in hepatocytes	3	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0002012	HP:0031137	Storage in hepatocytes	3	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
HP:0002012	HP:0001744	Splenomegaly	3	ICOS CL E G H	29851	5351	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		32
HP:0002012	HP:0001744	Splenomegaly	3	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1	.		32
HP:0002012	HP:0002240	Hepatomegaly	3	ICOS CL E G H	29851	5351	OMIM:607594	Immunodeficiency, common variable, 1	.		32
HP:0002012	HP:0001744	Splenomegaly	3	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2	.		32
HP:0002012	HP:0002240	Hepatomegaly	3	ICOS CL E G H	29851	5351	OMIM:240500	Immunodeficiency, common variable, 2	.		32
HP:0002012	HP:0001744	Splenomegaly	3	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional		86
HP:0002012	HP:0002240	Hepatomegaly	3	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0002012	HP:0001744	Splenomegaly	3	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional		86
HP:0002012	HP:0002240	Hepatomegaly	3	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0002012	HP:0001744	Splenomegaly	3	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.		86
HP:0002012	HP:0002240	Hepatomegaly	3	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.		86
HP:0002012	HP:0001744	Splenomegaly	3	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.		115
HP:0002012	HP:0001744	Splenomegaly	3	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040281 - Very frequent		115
HP:0002012	HP:0002240	Hepatomegaly	3	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.		115
HP:0002012	HP:0002240	Hepatomegaly	3	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040281 - Very frequent		115
HP:0002012	HP:0001744	Splenomegaly	3	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome	.		115
HP:0002012	HP:0001744	Splenomegaly	3	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome	HP:0040281 - Very frequent		115
HP:0002012	HP:0002240	Hepatomegaly	3	IDUA CL E G H	3425	5391	OMIM:607015	Hurler-Scheie syndrome	.		115
HP:0002012	HP:0002240	Hepatomegaly	3	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome	HP:0040281 - Very frequent		115
HP:0002012	HP:0001744	Splenomegaly	3	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome	HP:0040282 - Frequent		115
HP:0002012	HP:0002240	Hepatomegaly	3	IDUA CL E G H	3425	5391	ORPHA:93474	Scheie syndrome	HP:0040282 - Frequent		115
HP:0002012	HP:0001396	Cholestasis	3	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome			6
HP:0002012	HP:0001396	Cholestasis	3	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0002012	HP:0001744	Splenomegaly	3	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0002012	HP:0002240	Hepatomegaly	3	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0002012	HP:0001744	Splenomegaly	3	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7	HP:0040283 - Occasional		28
HP:0002012	HP:0002240	Hepatomegaly	3	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7	HP:0040283 - Occasional		28
HP:0002012	HP:0012115	Hepatitis	3	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0002012	HP:0031137	Storage in hepatocytes	3	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0002012	HP:0001744	Splenomegaly	3	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69			23
HP:0002012	HP:0002240	Hepatomegaly	3	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69			23
HP:0002012	HP:0006706	Cystic liver disease	3	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0002012	HP:0001733	Pancreatitis	3	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional		60
HP:0002012	HP:0001744	Splenomegaly	3	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional		60
HP:0002012	HP:0001744	Splenomegaly	3	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR			60
HP:0002012	HP:0002240	Hepatomegaly	3	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR			60
HP:0002012	HP:0001395	Hepatic fibrosis	3	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.		93
HP:0002012	HP:0002240	Hepatomegaly	3	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.		93
HP:0002012	HP:0006563	Malformation of the hepatic ductal plate	3	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.		93
HP:0002012	HP:0006706	Cystic liver disease	3	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0002012	HP:0001737	Pancreatic cysts	3	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional		148
HP:0002012	HP:0006706	Cystic liver disease	3	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease			148
HP:0002012	HP:0001080	Biliary tract abnormality	3	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0002012	HP:0001395	Hepatic fibrosis	3	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	.		148
HP:0002012	HP:0001396	Cholestasis	3	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	HP:0040282 - Frequent		148
HP:0002012	HP:0001737	Pancreatic cysts	3	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0002012	HP:0001744	Splenomegaly	3	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0002012	HP:0002240	Hepatomegaly	3	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly	HP:0040282 - Frequent		148
HP:0002012	HP:0001395	Hepatic fibrosis	3	IFT172 CL E G H	26160	30391	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		48
HP:0002012	HP:0001733	Pancreatitis	3	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0002012	HP:0001395	Hepatic fibrosis	3	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	.		48
HP:0002012	HP:0001396	Cholestasis	3	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	.		48
HP:0002012	HP:0001744	Splenomegaly	3	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	.		48
HP:0002012	HP:0002240	Hepatomegaly	3	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	.		48
HP:0002012	HP:0001395	Hepatic fibrosis	3	IFT27 CL E G H	11020	18626	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		1
HP:0002012	HP:0001394	Cirrhosis	3	IFT43 CL E G H	112752	29669	OMIM:614099	Cranioectodermal dysplasia 3	HP:0040283 - Occasional		11
HP:0002012	HP:0001395	Hepatic fibrosis	3	IFT74 CL E G H	80173	21424	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		3
HP:0002012	HP:0001395	Hepatic fibrosis	3	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			65
HP:0002012	HP:0002240	Hepatomegaly	3	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.		9
HP:0002012	HP:0002884	Hepatoblastoma	3	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.		9
HP:0002012	HP:0012094	Abnormal pancreas size	3	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	IGF2 CL E G H	3481	5466	OMIM:180860	Silver-Russell syndrome	.		9
HP:0002012	HP:0001394	Cirrhosis	3	IGF2R CL E G H	3482	5467	OMIM:114550	Hepatocellular carcinoma			4
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	IGF2R CL E G H	3482	5467	OMIM:114550	Hepatocellular carcinoma	.		4
HP:0002012	HP:0012115	Hepatitis	3	IGF2R CL E G H	3482	5467	OMIM:114550	Hepatocellular carcinoma			4
HP:0002012	HP:0001744	Splenomegaly	3	IGH CL E G H	3492	5477	ORPHA:545	Follicular lymphoma	HP:0040282 - Frequent		7
HP:0002012	HP:0001744	Splenomegaly	3	IGH CL E G H	3492	5477	ORPHA:52416	Mantle cell lymphoma	HP:0040282 - Frequent		7
HP:0002012	HP:0001080	Biliary tract abnormality	3	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0002012	HP:0100523	Liver abscess	3	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0002012	HP:0012115	Hepatitis	3	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0002012	HP:0012115	Hepatitis	3	IGHM CL E G H	3507	5541	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		7
HP:0002012	HP:0001080	Biliary tract abnormality	3	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0002012	HP:0100523	Liver abscess	3	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0002012	HP:0012115	Hepatitis	3	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0002012	HP:0012115	Hepatitis	3	IGLL1 CL E G H	3543	5870	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		3
HP:0002012	HP:0001744	Splenomegaly	3	IKBKG CL E G H	8517	5961	OMIM:301081				52
HP:0002012	HP:0002240	Hepatomegaly	3	IKBKG CL E G H	8517	5961	OMIM:301081				52
HP:0002012	HP:0001733	Pancreatitis	3	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional		8
HP:0002012	HP:0001744	Splenomegaly	3	IKZF3 CL E G H	22806	13178	OMIM:619437	IMMUNODEFICIENCY 84; IMD84
HP:0002012	HP:0001733	Pancreatitis	3	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0002012	HP:0001744	Splenomegaly	3	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0002012	HP:0001733	Pancreatitis	3	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002012	HP:0001744	Splenomegaly	3	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002012	HP:0001080	Biliary tract abnormality	3	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0001394	Cirrhosis	3	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0002012	HP:0001395	Hepatic fibrosis	3	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002012	HP:0001396	Cholestasis	3	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0012115	Hepatitis	3	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0002012	HP:0001733	Pancreatitis	3	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002012	HP:0001744	Splenomegaly	3	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002012	HP:0001080	Biliary tract abnormality	3	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis			46
HP:0002012	HP:0001394	Cirrhosis	3	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent		46
HP:0002012	HP:0001395	Hepatic fibrosis	3	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent		46
HP:0002012	HP:0001396	Cholestasis	3	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis			46
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent		46
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis			46
HP:0002012	HP:0012115	Hepatitis	3	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional		46
HP:0002012	HP:0012115	Hepatitis	3	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		14
HP:0002012	HP:0012115	Hepatitis	3	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		196
HP:0002012	HP:0012115	Hepatitis	3	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		4
HP:0002012	HP:0001396	Cholestasis	3	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0002012	HP:0002240	Hepatomegaly	3	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0002012	HP:0012115	Hepatitis	3	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0002012	HP:0001744	Splenomegaly	3	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency	.		40
HP:0002012	HP:0002240	Hepatomegaly	3	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency	.		40
HP:0002012	HP:0001080	Biliary tract abnormality	3	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56			7
HP:0002012	HP:0001394	Cirrhosis	3	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56			7
HP:0002012	HP:0012115	Hepatitis	3	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56			7
HP:0002012	HP:0001733	Pancreatitis	3	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0002012	HP:0001744	Splenomegaly	3	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0002012	HP:0001744	Splenomegaly	3	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0002012	HP:0002240	Hepatomegaly	3	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0002012	HP:0001744	Splenomegaly	3	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			65
HP:0002012	HP:0002240	Hepatomegaly	3	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			65
HP:0002012	HP:0001744	Splenomegaly	3	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity	.
HP:0002012	HP:0002240	Hepatomegaly	3	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity	.
HP:0002012	HP:0001744	Splenomegaly	3	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0002012	HP:0002240	Hepatomegaly	3	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0002012	HP:0001744	Splenomegaly	3	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		48
HP:0002012	HP:0002240	Hepatomegaly	3	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		48
HP:0002012	HP:0002240	Hepatomegaly	3	IL2RG CL E G H	3561	6010	OMIM:300400	Severe combined immunodeficiency, X-linked	.		48
HP:0002012	HP:0001396	Cholestasis	3	IL2RG CL E G H	3561	6010	ORPHA:276	T-B+ severe combined immunodeficiency due to gamma chain deficiency			48
HP:0002012	HP:0002240	Hepatomegaly	3	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:0002012	HP:0001080	Biliary tract abnormality	3	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14			51
HP:0002012	HP:0001744	Splenomegaly	3	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0002012	HP:0002240	Hepatomegaly	3	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0002012	HP:0001744	Splenomegaly	3	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0002012	HP:0002240	Hepatomegaly	3	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0002012	HP:0001744	Splenomegaly	3	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		94
HP:0002012	HP:0002240	Hepatomegaly	3	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		94
HP:0002012	HP:0001744	Splenomegaly	3	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:0002012	HP:0002240	Hepatomegaly	3	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:0002012	HP:0001744	Splenomegaly	3	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency			94
HP:0002012	HP:0002240	Hepatomegaly	3	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency			94
HP:0002012	HP:0001395	Hepatic fibrosis	3	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1			111
HP:0002012	HP:0001080	Biliary tract abnormality	3	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0002012	HP:0001394	Cirrhosis	3	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		111
HP:0002012	HP:0001395	Hepatic fibrosis	3	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0002012	HP:0001744	Splenomegaly	3	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		111
HP:0002012	HP:0002240	Hepatomegaly	3	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		111
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0002012	HP:0001744	Splenomegaly	3	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia	HP:0040283 - Occasional		18
HP:0002012	HP:0002240	Hepatomegaly	3	INPPL1 CL E G H	3636	6080	ORPHA:2746	Opsismodysplasia	HP:0040283 - Occasional		18
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0002012	HP:0012094	Abnormal pancreas size	3	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0002012	HP:0012028	Hepatocellular adenoma	3	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040284 - Very rare		62
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	INS CL E G H	3630	6081	ORPHA:552	MODY			62
HP:0002012	HP:0012094	Abnormal pancreas size	3	INS CL E G H	3630	6081	ORPHA:552	MODY			62
HP:0002012	HP:0001395	Hepatic fibrosis	3	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.		229
HP:0002012	HP:0001396	Cholestasis	3	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.		229
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0002012	HP:0002240	Hepatomegaly	3	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040282 - Frequent		229
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0002012	HP:0001395	Hepatic fibrosis	3	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome			106
HP:0002012	HP:0001395	Hepatic fibrosis	3	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome			61
HP:0002012	HP:0100523	Liver abscess	3	IRAK4 CL E G H	51135	17967	OMIM:607676	Immunodeficiency 67			58
HP:0002012	HP:0001744	Splenomegaly	3	IRF2BP2 CL E G H	359948	21729	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		4
HP:0002012	HP:0001744	Splenomegaly	3	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040282 - Frequent		1
HP:0002012	HP:0002240	Hepatomegaly	3	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040282 - Frequent		1
HP:0002012	HP:0001080	Biliary tract abnormality	3	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis			4
HP:0002012	HP:0001394	Cirrhosis	3	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent		4
HP:0002012	HP:0001395	Hepatic fibrosis	3	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent		4
HP:0002012	HP:0001396	Cholestasis	3	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis			4
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent		4
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis			4
HP:0002012	HP:0012115	Hepatitis	3	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional		4
HP:0002012	HP:0001744	Splenomegaly	3	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B	.		5
HP:0002012	HP:0002240	Hepatomegaly	3	IRF8 CL E G H	3394	5358	OMIM:226990	Immunodeficiency 32B			5
HP:0002012	HP:0001744	Splenomegaly	3	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0002012	HP:0001971	Hypersplenism	3	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0002012	HP:0002240	Hepatomegaly	3	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0002012	HP:0012115	Hepatitis	3	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0002012	HP:0001080	Biliary tract abnormality	3	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0002012	HP:0001394	Cirrhosis	3	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040283 - Occasional		3
HP:0002012	HP:0001744	Splenomegaly	3	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0002012	HP:0001971	Hypersplenism	3	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040282 - Frequent		3
HP:0002012	HP:0002240	Hepatomegaly	3	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0002012	HP:0012115	Hepatitis	3	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040282 - Frequent		3
HP:0002012	HP:0001744	Splenomegaly	3	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1			51
HP:0002012	HP:0002240	Hepatomegaly	3	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1			51
HP:0002012	HP:0001396	Cholestasis	3	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis			130
HP:0002012	HP:0001080	Biliary tract abnormality	3	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0002012	HP:0001394	Cirrhosis	3	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.		257
HP:0002012	HP:0001396	Cholestasis	3	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.		257
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.		257
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0002012	HP:0001744	Splenomegaly	3	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE			12
HP:0002012	HP:0002240	Hepatomegaly	3	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE			12
HP:0002012	HP:0006706	Cystic liver disease	3	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE			12
HP:0002012	HP:0030146	Abnormal liver parenchyma morphology	3	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE			12
HP:0002012	HP:0001394	Cirrhosis	3	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome	HP:0040282 - Frequent		57
HP:0002012	HP:0001394	Cirrhosis	3	JAK2 CL E G H	3717	6192	OMIM:600880	Budd-Chiari syndrome	.		57
HP:0002012	HP:0001396	Cholestasis	3	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome			57
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	JAK2 CL E G H	3717	6192	OMIM:600880	Budd-Chiari syndrome	.		57
HP:0002012	HP:0001744	Splenomegaly	3	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome	HP:0040281 - Very frequent		57
HP:0002012	HP:0002240	Hepatomegaly	3	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome	HP:0040282 - Frequent		57
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome			57
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome			57
HP:0002012	HP:0001744	Splenomegaly	3	JAK2 CL E G H	3717	6192	OMIM:133100	Erythrocytosis, familial, 1	.		57
HP:0002012	HP:0001744	Splenomegaly	3	JAK2 CL E G H	3717	6192	ORPHA:3318	Essential thrombocythemia	HP:0040282 - Frequent		57
HP:0002012	HP:0001744	Splenomegaly	3	JAK2 CL E G H	3717	6192	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent		57
HP:0002012	HP:0001744	Splenomegaly	3	JAK2 CL E G H	3717	6192	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included			57
HP:0002012	HP:0001744	Splenomegaly	3	JAK2 CL E G H	3717	6192	OMIM:263300	Polycythemia vera	.		57
HP:0002012	HP:0001744	Splenomegaly	3	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent		57
HP:0002012	HP:0002240	Hepatomegaly	3	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent		57
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera			57
HP:0002012	HP:0001744	Splenomegaly	3	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		57
HP:0002012	HP:0002240	Hepatomegaly	3	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		57
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis			57
HP:0002012	HP:0001744	Splenomegaly	3	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency			140
HP:0002012	HP:0002240	Hepatomegaly	3	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency			140
HP:0002012	HP:0002240	Hepatomegaly	3	JAM2 CL E G H	58494	14686	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent
HP:0002012	HP:0002240	Hepatomegaly	3	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts	.		4
HP:0002012	HP:0001744	Splenomegaly	3	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			10
HP:0002012	HP:0001734	Annular pancreas	3	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0002012	HP:0031137	Storage in hepatocytes	3	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0002012	HP:0001744	Splenomegaly	3	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional		13
HP:0002012	HP:0002240	Hepatomegaly	3	KCNH1 CL E G H	3756	6250	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional		13
HP:0002012	HP:0001744	Splenomegaly	3	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.		13
HP:0002012	HP:0002240	Hepatomegaly	3	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.		13
HP:0002012	HP:0002240	Hepatomegaly	3	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040283 - Occasional		127
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency			127
HP:0002012	HP:0008261	Pancreatic islet cell adenoma	3	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0002012	HP:0034346	Nesidioblastosis	3	KCNJ11 CL E G H	3767	6257	OMIM:601820	Hyperinsulinemic hypoglycemia, familial, 2			127
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	KCNJ11 CL E G H	3767	6257	OMIM:601820	Hyperinsulinemic hypoglycemia, familial, 2			127
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0002012	HP:0012094	Abnormal pancreas size	3	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0002012	HP:0012028	Hepatocellular adenoma	3	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040284 - Very rare		127
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY			127
HP:0002012	HP:0012094	Abnormal pancreas size	3	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY			127
HP:0002012	HP:0001744	Splenomegaly	3	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional		7
HP:0002012	HP:0002240	Hepatomegaly	3	KCNN3 CL E G H	3782	6292	ORPHA:3473	Zimmermann-Laband syndrome	HP:0040283 - Occasional		7
HP:0002012	HP:0001394	Cirrhosis	3	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis			3
HP:0002012	HP:0001396	Cholestasis	3	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis			3
HP:0002012	HP:0001744	Splenomegaly	3	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent		3
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis			3
HP:0002012	HP:0001396	Cholestasis	3	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2			3
HP:0002012	HP:0001744	Splenomegaly	3	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2	.		3
HP:0002012	HP:0002240	Hepatomegaly	3	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2	.		3
HP:0002012	HP:0002240	Hepatomegaly	3	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.		730
HP:0002012	HP:0002884	Hepatoblastoma	3	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.		730
HP:0002012	HP:0012094	Abnormal pancreas size	3	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0002012	HP:0002240	Hepatomegaly	3	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.		1
HP:0002012	HP:0002884	Hepatoblastoma	3	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.		1
HP:0002012	HP:0012094	Abnormal pancreas size	3	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0002012	HP:0001080	Biliary tract abnormality	3	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8			1
HP:0002012	HP:0001394	Cirrhosis	3	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8			1
HP:0002012	HP:0001395	Hepatic fibrosis	3	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8			1
HP:0002012	HP:0001396	Cholestasis	3	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8			1
HP:0002012	HP:0002240	Hepatomegaly	3	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8			1
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8			1
HP:0002012	HP:0002240	Hepatomegaly	3	KIF20A CL E G H	10112	9787	OMIM:619433	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0002012	HP:0002240	Hepatomegaly	3	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional
HP:0002012	HP:0001396	Cholestasis	3	KIF23 CL E G H	9493	6392	OMIM:105600	Anemia, dyserythropoietic congenital, type III			1
HP:0002012	HP:0001080	Biliary tract abnormality	3	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0002012	HP:0001394	Cirrhosis	3	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0002012	HP:0001395	Hepatic fibrosis	3	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0002012	HP:0001744	Splenomegaly	3	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0002012	HP:0002240	Hepatomegaly	3	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0002012	HP:0001744	Splenomegaly	3	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		327
HP:0002012	HP:0002240	Hepatomegaly	3	KIT CL E G H	3815	6342	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		327
HP:0002012	HP:0001744	Splenomegaly	3	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV	.		42
HP:0002012	HP:0002240	Hepatomegaly	3	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV	.		42
HP:0002012	HP:0001744	Splenomegaly	3	KLF1 CL E G H	10661	6345	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040281 - Very frequent		42
HP:0002012	HP:0002240	Hepatomegaly	3	KLF1 CL E G H	10661	6345	ORPHA:46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	HP:0040282 - Frequent		42
HP:0002012	HP:0001744	Splenomegaly	3	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			42
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			42
HP:0002012	HP:0012028	Hepatocellular adenoma	3	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040284 - Very rare		78
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	KLF11 CL E G H	8462	11811	ORPHA:552	MODY			78
HP:0002012	HP:0012094	Abnormal pancreas size	3	KLF11 CL E G H	8462	11811	ORPHA:552	MODY			78
HP:0002012	HP:0001733	Pancreatitis	3	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002012	HP:0001744	Splenomegaly	3	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002012	HP:0031137	Storage in hepatocytes	3	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0002012	HP:0001396	Cholestasis	3	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome			1
HP:0002012	HP:0001744	Splenomegaly	3	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome			13
HP:0002012	HP:0002240	Hepatomegaly	3	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome			13
HP:0002012	HP:0001744	Splenomegaly	3	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41			13
HP:0002012	HP:0002240	Hepatomegaly	3	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41			13
HP:0002012	HP:0001396	Cholestasis	3	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma			196
HP:0002012	HP:0001744	Splenomegaly	3	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma			196
HP:0002012	HP:0002240	Hepatomegaly	3	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma			196
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040280 - Obligate		196
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma			196
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		196
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		196
HP:0002012	HP:0002240	Hepatomegaly	3	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		196
HP:0002012	HP:0001744	Splenomegaly	3	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.		196
HP:0002012	HP:0002240	Hepatomegaly	3	KRAS CL E G H	3845	6407	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.		196
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	KRIT1 CL E G H	889	1573	OMIM:116860	Cerebral cavernous malformations 1			92
HP:0002012	HP:0001080	Biliary tract abnormality	3	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial			19
HP:0002012	HP:0001394	Cirrhosis	3	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial			19
HP:0002012	HP:0001396	Cholestasis	3	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial			19
HP:0002012	HP:0012115	Hepatitis	3	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial			19
HP:0002012	HP:0001396	Cholestasis	3	KYNU CL E G H	8942	6469	OMIM:236800	HYDROXYKYNURENINURIA			5
HP:0002012	HP:0001744	Splenomegaly	3	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		1
HP:0002012	HP:0002240	Hepatomegaly	3	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		1
HP:0002012	HP:0002240	Hepatomegaly	3	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0002012	HP:0002240	Hepatomegaly	3	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1	.
HP:0002012	HP:0031137	Storage in hepatocytes	3	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1
HP:0002012	HP:0001744	Splenomegaly	3	LAT CL E G H	27040	18874	OMIM:617514	Immunodeficiency 52			2
HP:0002012	HP:0001744	Splenomegaly	3	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0002012	HP:0002240	Hepatomegaly	3	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0002012	HP:0006559	Hepatic calcification	3	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0002012	HP:0001080	Biliary tract abnormality	3	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome			70
HP:0002012	HP:0001394	Cirrhosis	3	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome	HP:0040283 - Occasional		70
HP:0002012	HP:0001396	Cholestasis	3	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome			70
HP:0002012	HP:0001396	Cholestasis	3	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome			70
HP:0002012	HP:0001744	Splenomegaly	3	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome	.		70
HP:0002012	HP:0002240	Hepatomegaly	3	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome	HP:0040281 - Very frequent		70
HP:0002012	HP:0002240	Hepatomegaly	3	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome	.		70
HP:0002012	HP:0001744	Splenomegaly	3	LCAT CL E G H	3931	6522	ORPHA:79292	Fish-eye disease	HP:0040283 - Occasional		26
HP:0002012	HP:0002240	Hepatomegaly	3	LCAT CL E G H	3931	6522	ORPHA:79292	Fish-eye disease	HP:0040283 - Occasional		26
HP:0002012	HP:0031137	Storage in hepatocytes	3	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia			2157
HP:0002012	HP:0031137	Storage in hepatocytes	3	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia			73
HP:0002012	HP:0001080	Biliary tract abnormality	3	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		2
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		2
HP:0002012	HP:0009799	Supernumerary spleens	3	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0002012	HP:0012094	Abnormal pancreas size	3	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome
HP:0002012	HP:0001396	Cholestasis	3	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0002012	HP:0001396	Cholestasis	3	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0002012	HP:0001394	Cirrhosis	3	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional		1
HP:0002012	HP:0031137	Storage in hepatocytes	3	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0002012	HP:0002240	Hepatomegaly	3	LIG4 CL E G H	3981	6601	ORPHA:99812	LIG4 syndrome	HP:0040283 - Occasional		88
HP:0002012	HP:0001744	Splenomegaly	3	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		88
HP:0002012	HP:0002240	Hepatomegaly	3	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		88
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0002012	HP:0001394	Cirrhosis	3	LIPA CL E G H	3988	6617	ORPHA:75234	Cholesteryl ester storage disease	HP:0040283 - Occasional		73
HP:0002012	HP:0001396	Cholestasis	3	LIPA CL E G H	3988	6617	ORPHA:75234	Cholesteryl ester storage disease			73
HP:0002012	HP:0001744	Splenomegaly	3	LIPA CL E G H	3988	6617	ORPHA:75234	Cholesteryl ester storage disease	HP:0040282 - Frequent		73
HP:0002012	HP:0002240	Hepatomegaly	3	LIPA CL E G H	3988	6617	ORPHA:75234	Cholesteryl ester storage disease	HP:0040281 - Very frequent		73
HP:0002012	HP:0001394	Cirrhosis	3	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0002012	HP:0001395	Hepatic fibrosis	3	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0002012	HP:0001744	Splenomegaly	3	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0002012	HP:0001971	Hypersplenism	3	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0002012	HP:0002240	Hepatomegaly	3	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0002012	HP:0031137	Storage in hepatocytes	3	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0002012	HP:0031140	Abnormal liver sonography	3	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0002012	HP:0001744	Splenomegaly	3	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease	HP:0040282 - Frequent		73
HP:0002012	HP:0002240	Hepatomegaly	3	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease	HP:0040281 - Very frequent		73
HP:0002012	HP:0002240	Hepatomegaly	3	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040281 - Very frequent		7
HP:0002012	HP:0031137	Storage in hepatocytes	3	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy			7
HP:0002012	HP:0031137	Storage in hepatocytes	3	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6			7
HP:0002012	HP:0001080	Biliary tract abnormality	3	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF			46
HP:0002012	HP:0002240	Hepatomegaly	3	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0002012	HP:0001733	Pancreatitis	3	LMF1 CL E G H	64788	14154	OMIM:246650	LIPASE DEFICIENCY, COMBINED			3
HP:0002012	HP:0031137	Storage in hepatocytes	3	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0002012	HP:0001733	Pancreatitis	3	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040283 - Occasional		645
HP:0002012	HP:0001744	Splenomegaly	3	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040283 - Occasional		645
HP:0002012	HP:0002240	Hepatomegaly	3	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040281 - Very frequent		645
HP:0002012	HP:0031137	Storage in hepatocytes	3	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0002012	HP:0001733	Pancreatitis	3	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040283 - Occasional		645
HP:0002012	HP:0001744	Splenomegaly	3	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040283 - Occasional		645
HP:0002012	HP:0002240	Hepatomegaly	3	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040281 - Very frequent		645
HP:0002012	HP:0031137	Storage in hepatocytes	3	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type			645
HP:0002012	HP:0001733	Pancreatitis	3	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type	HP:0040283 - Occasional		645
HP:0002012	HP:0002240	Hepatomegaly	3	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type	HP:0040282 - Frequent		645
HP:0002012	HP:0031137	Storage in hepatocytes	3	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type			645
HP:0002012	HP:0001733	Pancreatitis	3	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2			645
HP:0002012	HP:0002240	Hepatomegaly	3	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.		645
HP:0002012	HP:0031137	Storage in hepatocytes	3	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2			645
HP:0002012	HP:0001080	Biliary tract abnormality	3	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome			645
HP:0002012	HP:0002240	Hepatomegaly	3	LMNA CL E G H	4000	6636	OMIM:248370	Mandibuloacral dysplasia			645
HP:0002012	HP:0031137	Storage in hepatocytes	3	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy			11
HP:0002012	HP:0001080	Biliary tract abnormality	3	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0002012	HP:0001744	Splenomegaly	3	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040282 - Frequent		186
HP:0002012	HP:0002240	Hepatomegaly	3	LPIN2 CL E G H	9663	14450	ORPHA:77297	Majeed syndrome	HP:0040282 - Frequent		186
HP:0002012	HP:0001744	Splenomegaly	3	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0002012	HP:0002240	Hepatomegaly	3	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0002012	HP:0001396	Cholestasis	3	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia			106
HP:0002012	HP:0001733	Pancreatitis	3	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia	.		106
HP:0002012	HP:0001744	Splenomegaly	3	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia	.		106
HP:0002012	HP:0002240	Hepatomegaly	3	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia			106
HP:0002012	HP:0001744	Splenomegaly	3	LRBA CL E G H	987	1742	OMIM:614700	IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8			45
HP:0002012	HP:0002240	Hepatomegaly	3	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease	HP:0040281 - Very frequent		125
HP:0002012	HP:0006706	Cystic liver disease	3	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease			125
HP:0002012	HP:0006706	Cystic liver disease	3	LRP5 CL E G H	4041	6697	OMIM:617875	Polycystic liver disease 4 with or without kidney cysts			125
HP:0002012	HP:0031137	Storage in hepatocytes	3	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0002012	HP:0031137	Storage in hepatocytes	3	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0002012	HP:0009799	Supernumerary spleens	3	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0012115	Hepatitis	3	LRRC8A CL E G H	56262	19027	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		3
HP:0002012	HP:0001396	Cholestasis	3	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0002012	HP:0001744	Splenomegaly	3	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0002012	HP:0002240	Hepatomegaly	3	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0002012	HP:0002240	Hepatomegaly	3	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3	.		12
HP:0002012	HP:0001734	Annular pancreas	3	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002012	HP:0031137	Storage in hepatocytes	3	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0002012	HP:0002240	Hepatomegaly	3	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0002012	HP:0031137	Storage in hepatocytes	3	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0002012	HP:0001396	Cholestasis	3	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0002012	HP:0001744	Splenomegaly	3	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040282 - Frequent		239
HP:0002012	HP:0002240	Hepatomegaly	3	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0002012	HP:0001396	Cholestasis	3	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0002012	HP:0001744	Splenomegaly	3	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0002012	HP:0002240	Hepatomegaly	3	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome			239
HP:0002012	HP:0001396	Cholestasis	3	LYZ CL E G H	4069	6740	OMIM:105200	Amyloidosis, familial visceral	.		32
HP:0002012	HP:0001744	Splenomegaly	3	LYZ CL E G H	4069	6740	OMIM:105200	Amyloidosis, familial visceral	.		32
HP:0002012	HP:0002240	Hepatomegaly	3	LYZ CL E G H	4069	6740	OMIM:105200	Amyloidosis, familial visceral	.		32
HP:0002012	HP:0001395	Hepatic fibrosis	3	LZTFL1 CL E G H	54585	6741	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		4
HP:0002012	HP:0002240	Hepatomegaly	3	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		43
HP:0002012	HP:0002240	Hepatomegaly	3	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0002012	HP:0002240	Hepatomegaly	3	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0002012	HP:0008261	Pancreatic islet cell adenoma	3	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus
HP:0002012	HP:0002240	Hepatomegaly	3	MAGT1 CL E G H	84061	28880	OMIM:301031	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Icc; CDG1CC			17
HP:0002012	HP:0001744	Splenomegaly	3	MAGT1 CL E G H	84061	28880	OMIM:300853	IMMUNODEFICIENCY, X-LINKED, WITH MAGNESIUM DEFECT, EPSTEIN-BARR VIRUS INFECTION, AND NEOPLASIA; XMEN			17
HP:0002012	HP:0001744	Splenomegaly	3	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.		136
HP:0002012	HP:0002240	Hepatomegaly	3	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis	.		136
HP:0002012	HP:0001744	Splenomegaly	3	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0002012	HP:0002240	Hepatomegaly	3	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form			136
HP:0002012	HP:0001744	Splenomegaly	3	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0002012	HP:0002240	Hepatomegaly	3	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0002012	HP:0002240	Hepatomegaly	3	MAPK8IP3 CL E G H	23162	6884	OMIM:618443	Neurodevelopmental disorder with or without variable brain abnormalities
HP:0002012	HP:0001394	Cirrhosis	3	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease	HP:0040283 - Occasional
HP:0002012	HP:0001395	Hepatic fibrosis	3	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0002012	HP:0001396	Cholestasis	3	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0002012	HP:0002240	Hepatomegaly	3	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease	.
HP:0002012	HP:0031137	Storage in hepatocytes	3	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0002012	HP:0031137	Storage in hepatocytes	3	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency			81
HP:0002012	HP:0009799	Supernumerary spleens	3	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0002012	HP:0001744	Splenomegaly	3	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54	.		69
HP:0002012	HP:0002240	Hepatomegaly	3	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54	.		69
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome			950
HP:0002012	HP:0033196	Portal inflammation	3	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0002012	HP:0001080	Biliary tract abnormality	3	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0002012	HP:0001394	Cirrhosis	3	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0002012	HP:0001395	Hepatic fibrosis	3	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0002012	HP:0001396	Cholestasis	3	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0002012	HP:0001744	Splenomegaly	3	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0002012	HP:0001971	Hypersplenism	3	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0002012	HP:0002240	Hepatomegaly	3	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0002012	HP:0001733	Pancreatitis	3	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional		281
HP:0002012	HP:0001744	Splenomegaly	3	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional		281
HP:0002012	HP:0001733	Pancreatitis	3	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040283 - Occasional		281
HP:0002012	HP:0001744	Splenomegaly	3	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040283 - Occasional		281
HP:0002012	HP:0001744	Splenomegaly	3	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0002012	HP:0002240	Hepatomegaly	3	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR	.		281
HP:0002012	HP:0001744	Splenomegaly	3	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0002012	HP:0002240	Hepatomegaly	3	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:0002012	HP:0002884	Hepatoblastoma	3	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:0002012	HP:0009799	Supernumerary spleens	3	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome			13
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma			462
HP:0002012	HP:0008261	Pancreatic islet cell adenoma	3	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.		462
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1			462
HP:0002012	HP:0008261	Pancreatic islet cell adenoma	3	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0002012	HP:0001394	Cirrhosis	3	MET CL E G H	4233	7029	OMIM:114550	Hepatocellular carcinoma			375
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	MET CL E G H	4233	7029	OMIM:114550	Hepatocellular carcinoma	.		375
HP:0002012	HP:0012115	Hepatitis	3	MET CL E G H	4233	7029	OMIM:114550	Hepatocellular carcinoma			375
HP:0002012	HP:0001395	Hepatic fibrosis	3	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040281 - Very frequent		375
HP:0002012	HP:0002240	Hepatomegaly	3	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040281 - Very frequent		375
HP:0002012	HP:0002605	Hepatic necrosis	3	MET CL E G H	4233	7029	ORPHA:33402	Pediatric hepatocellular carcinoma	HP:0040282 - Frequent		375
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0002012	HP:0002240	Hepatomegaly	3	MFN2 CL E G H	9927	16877	ORPHA:2398	Multiple symmetric lipomatosis	HP:0040282 - Frequent		203
HP:0002012	HP:0001080	Biliary tract abnormality	3	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0002012	HP:0031137	Storage in hepatocytes	3	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0002012	HP:0001744	Splenomegaly	3	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0002012	HP:0002240	Hepatomegaly	3	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0002012	HP:0001394	Cirrhosis	3	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis			1
HP:0002012	HP:0001744	Splenomegaly	3	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		1
HP:0002012	HP:0002240	Hepatomegaly	3	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		1
HP:0002012	HP:0001395	Hepatic fibrosis	3	MKKS CL E G H	8195	7108	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		69
HP:0002012	HP:0001395	Hepatic fibrosis	3	MKS1 CL E G H	54903	7121	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		127
HP:0002012	HP:0001395	Hepatic fibrosis	3	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome			127
HP:0002012	HP:0001737	Pancreatic cysts	3	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		127
HP:0002012	HP:0100732	Pancreatic fibrosis	3	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		127
HP:0002012	HP:0006706	Cystic liver disease	3	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		127
HP:0002012	HP:0009799	Supernumerary spleens	3	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome			127
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome			127
HP:0002012	HP:0001080	Biliary tract abnormality	3	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0002012	HP:0001744	Splenomegaly	3	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.		127
HP:0002012	HP:0006563	Malformation of the hepatic ductal plate	3	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0002012	HP:0009799	Supernumerary spleens	3	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1819
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1819
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		131
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		131
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0002012	HP:0002240	Hepatomegaly	3	MMAA CL E G H	166785	18871	OMIM:251100	Methylmalonic aciduria, Cbla type	.		113
HP:0002012	HP:0002240	Hepatomegaly	3	MMAB CL E G H	326625	19331	OMIM:251110	Methylmalonic aciduria, Cblb type	.		127
HP:0002012	HP:0001396	Cholestasis	3	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0002012	HP:0001080	Biliary tract abnormality	3	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0001394	Cirrhosis	3	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0002012	HP:0001395	Hepatic fibrosis	3	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002012	HP:0001396	Cholestasis	3	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0012115	Hepatitis	3	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0002012	HP:0009799	Supernumerary spleens	3	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0002012	HP:0001734	Annular pancreas	3	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002012	HP:0031137	Storage in hepatocytes	3	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0002012	HP:0001733	Pancreatitis	3	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0002012	HP:0002240	Hepatomegaly	3	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0002012	HP:0001733	Pancreatitis	3	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	HP:0040283 - Occasional
HP:0002012	HP:0001744	Splenomegaly	3	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	HP:0040282 - Frequent
HP:0002012	HP:0002240	Hepatomegaly	3	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	HP:0040283 - Occasional
HP:0002012	HP:0001733	Pancreatitis	3	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0	HP:0040283 - Occasional
HP:0002012	HP:0002240	Hepatomegaly	3	MMUT CL E G H	4594	7526	ORPHA:289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0	HP:0040282 - Frequent
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	MNS1 CL E G H	55329	29636	OMIM:618948	HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0002012	HP:0002240	Hepatomegaly	3	MOGS CL E G H	7841	24862	OMIM:606056	Congenital disorder of glycosylation, type IIB	.		37
HP:0002012	HP:0001744	Splenomegaly	3	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0002012	HP:0002240	Hepatomegaly	3	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional		37
HP:0002012	HP:0002240	Hepatomegaly	3	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency	.		6
HP:0002012	HP:0001394	Cirrhosis	3	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib	.		51
HP:0002012	HP:0001395	Hepatic fibrosis	3	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib	.		51
HP:0002012	HP:0002240	Hepatomegaly	3	MPI CL E G H	4351	7216	OMIM:602579	Congenital disorder of glycosylation, type Ib	.		51
HP:0002012	HP:0001395	Hepatic fibrosis	3	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG	HP:0040281 - Very frequent		51
HP:0002012	HP:0002240	Hepatomegaly	3	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG	HP:0040281 - Very frequent		51
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG			51
HP:0002012	HP:0001744	Splenomegaly	3	MPIG6B CL E G H	80739	13937	OMIM:617441	Thrombocytopenia, anemia, and myelofibrosis	HP:0040283 - Occasional		1
HP:0002012	HP:0001744	Splenomegaly	3	MPL CL E G H	4352	7217	ORPHA:3318	Essential thrombocythemia	HP:0040282 - Frequent		97
HP:0002012	HP:0001744	Splenomegaly	3	MPL CL E G H	4352	7217	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent		97
HP:0002012	HP:0001744	Splenomegaly	3	MPL CL E G H	4352	7217	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included			97
HP:0002012	HP:0001744	Splenomegaly	3	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent		97
HP:0002012	HP:0002240	Hepatomegaly	3	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent		97
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera			97
HP:0002012	HP:0001744	Splenomegaly	3	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		97
HP:0002012	HP:0002240	Hepatomegaly	3	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		97
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis			97
HP:0002012	HP:0031137	Storage in hepatocytes	3	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE			56
HP:0002012	HP:0001394	Cirrhosis	3	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.		56
HP:0002012	HP:0001396	Cholestasis	3	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0002012	HP:0002240	Hepatomegaly	3	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.		56
HP:0002012	HP:0002605	Hepatic necrosis	3	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0002012	HP:0031137	Storage in hepatocytes	3	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0002012	HP:0002240	Hepatomegaly	3	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0002012	HP:0002240	Hepatomegaly	3	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0002012	HP:0031137	Storage in hepatocytes	3	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0002012	HP:0031137	Storage in hepatocytes	3	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16			13
HP:0002012	HP:0002240	Hepatomegaly	3	MRPS28 CL E G H	28957	14513	OMIM:618958	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 47; COXPD47
HP:0002012	HP:0002240	Hepatomegaly	3	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34	.		12
HP:0002012	HP:0031137	Storage in hepatocytes	3	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34			12
HP:0002012	HP:0001744	Splenomegaly	3	MS4A1 CL E G H	931	7315	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		1
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2162
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2162
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2232
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2232
HP:0002012	HP:0001080	Biliary tract abnormality	3	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0002012	HP:0001394	Cirrhosis	3	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		1
HP:0002012	HP:0001395	Hepatic fibrosis	3	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		1
HP:0002012	HP:0001396	Cholestasis	3	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040281 - Very frequent		1
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		1
HP:0002012	HP:0001733	Pancreatitis	3	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		1
HP:0002012	HP:0001744	Splenomegaly	3	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		1
HP:0002012	HP:0002240	Hepatomegaly	3	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		1
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0002012	HP:0012115	Hepatitis	3	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		1
HP:0002012	HP:0001394	Cirrhosis	3	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040284 - Very rare		81
HP:0002012	HP:0001395	Hepatic fibrosis	3	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040284 - Very rare		81
HP:0002012	HP:0002240	Hepatomegaly	3	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional		81
HP:0002012	HP:0031137	Storage in hepatocytes	3	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0002012	HP:0002240	Hepatomegaly	3	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0002012	HP:0031137	Storage in hepatocytes	3	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0002012	HP:0001394	Cirrhosis	3	MUC5B CL E G H	727897	7516	OMIM:178500	Pulmonary fibrosis, idiopathic	.		133
HP:0002012	HP:0001744	Splenomegaly	3	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0002012	HP:0002240	Hepatomegaly	3	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0002012	HP:0002240	Hepatomegaly	3	MVK CL E G H	4598	7530	ORPHA:343	Hyperimmunoglobulinemia D with periodic fever	HP:0040281 - Very frequent		150
HP:0002012	HP:0001744	Splenomegaly	3	MVK CL E G H	4598	7530	ORPHA:29	Mevalonic aciduria	HP:0040281 - Very frequent		150
HP:0002012	HP:0001744	Splenomegaly	3	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0002012	HP:0002240	Hepatomegaly	3	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0002012	HP:0002240	Hepatomegaly	3	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4	.		1143
HP:0002012	HP:0001734	Annular pancreas	3	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.		35
HP:0002012	HP:0009799	Supernumerary spleens	3	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0002012	HP:0001744	Splenomegaly	3	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional		9
HP:0002012	HP:0002240	Hepatomegaly	3	MYD88 CL E G H	4615	7562	ORPHA:33226	Waldenström macroglobulinemia	HP:0040283 - Occasional		9
HP:0002012	HP:0002240	Hepatomegaly	3	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0002012	HP:0001396	Cholestasis	3	MYO5B CL E G H	4645	7603	OMIM:619868				192
HP:0002012	HP:0001744	Splenomegaly	3	MYO5B CL E G H	4645	7603	OMIM:619868				192
HP:0002012	HP:0002240	Hepatomegaly	3	MYO5B CL E G H	4645	7603	OMIM:619868				192
HP:0002012	HP:0006580	Portal fibrosis	3	MYO5B CL E G H	4645	7603	OMIM:619868				192
HP:0002012	HP:0002240	Hepatomegaly	3	MYORG CL E G H	57462	19918	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent
HP:0002012	HP:0002240	Hepatomegaly	3	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		217
HP:0002012	HP:0410259	Hepatopulmonary fusion	3	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	.		2
HP:0002012	HP:0009799	Supernumerary spleens	3	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0002012	HP:0001396	Cholestasis	3	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0002012	HP:0031137	Storage in hepatocytes	3	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0002012	HP:0001733	Pancreatitis	3	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	HP:0040282 - Frequent		14
HP:0002012	HP:0002240	Hepatomegaly	3	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1	HP:0040283 - Occasional		47
HP:0002012	HP:0002240	Hepatomegaly	3	NAGA CL E G H	4668	7631	ORPHA:79281	Alpha-N-acetylgalactosaminidase deficiency type 3	HP:0040282 - Frequent		47
HP:0002012	HP:0001744	Splenomegaly	3	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.		72
HP:0002012	HP:0002240	Hepatomegaly	3	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.		72
HP:0002012	HP:0002240	Hepatomegaly	3	NAGS CL E G H	162417	17996	ORPHA:927	Hyperammonemia due to N-acetylglutamate synthase deficiency	HP:0040284 - Very rare		36
HP:0002012	HP:0001396	Cholestasis	3	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2			25
HP:0002012	HP:0001744	Splenomegaly	3	NBEAL2 CL E G H	23218	31928	OMIM:139090	Gray platelet syndrome	.		127
HP:0002012	HP:0001744	Splenomegaly	3	NBEAL2 CL E G H	23218	31928	ORPHA:721	Gray platelet syndrome	HP:0040282 - Frequent		127
HP:0002012	HP:0001744	Splenomegaly	3	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional		13
HP:0002012	HP:0100523	Liver abscess	3	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional		13
HP:0002012	HP:0002240	Hepatomegaly	3	NCF1 CL E G H	653361	7660	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		13
HP:0002012	HP:0001744	Splenomegaly	3	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I	.		13
HP:0002012	HP:0100523	Liver abscess	3	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I			13
HP:0002012	HP:0002240	Hepatomegaly	3	NCF1 CL E G H	653361	7660	OMIM:233700	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type I	.		13
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0002012	HP:0001744	Splenomegaly	3	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional		67
HP:0002012	HP:0100523	Liver abscess	3	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional		67
HP:0002012	HP:0002240	Hepatomegaly	3	NCF2 CL E G H	4688	7661	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		67
HP:0002012	HP:0001744	Splenomegaly	3	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II	.		67
HP:0002012	HP:0100523	Liver abscess	3	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II			67
HP:0002012	HP:0002240	Hepatomegaly	3	NCF2 CL E G H	4688	7661	OMIM:233710	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type II	.		67
HP:0002012	HP:0001744	Splenomegaly	3	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional		37
HP:0002012	HP:0100523	Liver abscess	3	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease	HP:0040283 - Occasional		37
HP:0002012	HP:0002240	Hepatomegaly	3	NCF4 CL E G H	4689	7662	ORPHA:379	Chronic granulomatous disease	HP:0040281 - Very frequent		37
HP:0002012	HP:0001744	Splenomegaly	3	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0002012	HP:0002240	Hepatomegaly	3	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0002012	HP:0002240	Hepatomegaly	3	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0002012	HP:0001733	Pancreatitis	3	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0002012	HP:0002240	Hepatomegaly	3	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002012	HP:0002240	Hepatomegaly	3	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0002012	HP:0002240	Hepatomegaly	3	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002012	HP:0002240	Hepatomegaly	3	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0002012	HP:0002240	Hepatomegaly	3	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001733	Pancreatitis	3	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0002012	HP:0002240	Hepatomegaly	3	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001733	Pancreatitis	3	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0002012	HP:0002240	Hepatomegaly	3	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001733	Pancreatitis	3	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0002012	HP:0002240	Hepatomegaly	3	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			96
HP:0002012	HP:0002240	Hepatomegaly	3	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		7
HP:0002012	HP:0002240	Hepatomegaly	3	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		32
HP:0002012	HP:0002240	Hepatomegaly	3	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0002012	HP:0002240	Hepatomegaly	3	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		40
HP:0002012	HP:0002240	Hepatomegaly	3	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11	.		40
HP:0002012	HP:0031137	Storage in hepatocytes	3	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11			40
HP:0002012	HP:0002240	Hepatomegaly	3	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		26
HP:0002012	HP:0002240	Hepatomegaly	3	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		31
HP:0002012	HP:0002240	Hepatomegaly	3	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		50
HP:0002012	HP:0002240	Hepatomegaly	3	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		34
HP:0002012	HP:0002240	Hepatomegaly	3	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0002012	HP:0002240	Hepatomegaly	3	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0002012	HP:0002240	Hepatomegaly	3	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		3
HP:0002012	HP:0002240	Hepatomegaly	3	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		9
HP:0002012	HP:0002240	Hepatomegaly	3	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		16
HP:0002012	HP:0002240	Hepatomegaly	3	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		81
HP:0002012	HP:0002240	Hepatomegaly	3	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		65
HP:0002012	HP:0002240	Hepatomegaly	3	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		22
HP:0002012	HP:0001733	Pancreatitis	3	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8	.		22
HP:0002012	HP:0002240	Hepatomegaly	3	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0002012	HP:0001744	Splenomegaly	3	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0002012	HP:0002240	Hepatomegaly	3	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0002012	HP:0002240	Hepatomegaly	3	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		21
HP:0002012	HP:0002240	Hepatomegaly	3	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		38
HP:0002012	HP:0002240	Hepatomegaly	3	NDUFS7 CL E G H	374291	7714	OMIM:618224	Mitochondrial complex I deficiency, nuclear type 3	.		38
HP:0002012	HP:0002240	Hepatomegaly	3	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		42
HP:0002012	HP:0002240	Hepatomegaly	3	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		74
HP:0002012	HP:0002240	Hepatomegaly	3	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0002012	HP:0001395	Hepatic fibrosis	3	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	HP:0040283 - Occasional		101
HP:0002012	HP:0100732	Pancreatic fibrosis	3	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	HP:0040283 - Occasional		101
HP:0002012	HP:0009799	Supernumerary spleens	3	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0001395	Hepatic fibrosis	3	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	.		43
HP:0002012	HP:0001396	Cholestasis	3	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	.		43
HP:0002012	HP:0002240	Hepatomegaly	3	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	.		43
HP:0002012	HP:0006563	Malformation of the hepatic ductal plate	3	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2			43
HP:0002012	HP:0006706	Cystic liver disease	3	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2			43
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2			43
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001744	Splenomegaly	3	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0002012	HP:0002240	Hepatomegaly	3	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040284 - Very rare		43
HP:0002012	HP:0001744	Splenomegaly	3	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2			43
HP:0002012	HP:0002240	Hepatomegaly	3	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional		43
HP:0002012	HP:0001744	Splenomegaly	3	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.		43
HP:0002012	HP:0002240	Hepatomegaly	3	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.		43
HP:0002012	HP:0001744	Splenomegaly	3	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040281 - Very frequent		43
HP:0002012	HP:0012028	Hepatocellular adenoma	3	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040284 - Very rare		32
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY			32
HP:0002012	HP:0012094	Abnormal pancreas size	3	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY			32
HP:0002012	HP:0001396	Cholestasis	3	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis			5
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis			5
HP:0002012	HP:0001744	Splenomegaly	3	NFKB1 CL E G H	4790	7794	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		7
HP:0002012	HP:0001744	Splenomegaly	3	NFKB2 CL E G H	4791	7795	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		11
HP:0002012	HP:0001733	Pancreatitis	3	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52			5
HP:0002012	HP:0031137	Storage in hepatocytes	3	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52			5
HP:0002012	HP:0001394	Cirrhosis	3	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0002012	HP:0001744	Splenomegaly	3	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional		32
HP:0002012	HP:0002240	Hepatomegaly	3	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional		32
HP:0002012	HP:0011954	Nodular regenerative hyperplasia of liver	3	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional		32
HP:0002012	HP:0031137	Storage in hepatocytes	3	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0002012	HP:0001395	Hepatic fibrosis	3	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0002012	HP:0002240	Hepatomegaly	3	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0002012	HP:0001744	Splenomegaly	3	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0002012	HP:0002240	Hepatomegaly	3	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis	.
HP:0002012	HP:0002605	Hepatic necrosis	3	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0002012	HP:0031137	Storage in hepatocytes	3	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0002012	HP:0001394	Cirrhosis	3	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		27
HP:0002012	HP:0001744	Splenomegaly	3	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		27
HP:0002012	HP:0002240	Hepatomegaly	3	NHP2 CL E G H	55651	14377	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		27
HP:0002012	HP:0001395	Hepatic fibrosis	3	NHP2 CL E G H	55651	14377	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.		27
HP:0002012	HP:0001394	Cirrhosis	3	NHP2 CL E G H	55651	14377	OMIM:613987	Dyskeratosis congenita, autosomal recessive, 2	.		27
HP:0002012	HP:0001396	Cholestasis	3	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia			90
HP:0002012	HP:0001744	Splenomegaly	3	NLRC4 CL E G H	58484	16412	OMIM:616050	AUTOINFLAMMATION WITH INFANTILE ENTEROCOLITIS; AIFEC			30
HP:0002012	HP:0001744	Splenomegaly	3	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK			37
HP:0002012	HP:0002240	Hepatomegaly	3	NLRP1 CL E G H	22861	14374	OMIM:617388	AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS; AIADK			37
HP:0002012	HP:0001744	Splenomegaly	3	NLRP12 CL E G H	91662	22938	OMIM:611762	Familial cold autoinflammatory syndrome 2			99
HP:0002012	HP:0001744	Splenomegaly	3	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040282 - Frequent		217
HP:0002012	HP:0002240	Hepatomegaly	3	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040282 - Frequent		217
HP:0002012	HP:0001744	Splenomegaly	3	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0002012	HP:0002240	Hepatomegaly	3	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0002012	HP:0001744	Splenomegaly	3	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040281 - Very frequent		217
HP:0002012	HP:0002240	Hepatomegaly	3	NLRP3 CL E G H	114548	16400	ORPHA:575	Muckle-Wells syndrome	HP:0040281 - Very frequent		217
HP:0002012	HP:0009799	Supernumerary spleens	3	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0002012	HP:0001744	Splenomegaly	3	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040283 - Occasional		187
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0002012	HP:0001394	Cirrhosis	3	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		17
HP:0002012	HP:0001744	Splenomegaly	3	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		17
HP:0002012	HP:0002240	Hepatomegaly	3	NOP10 CL E G H	55505	14378	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		17
HP:0002012	HP:0001395	Hepatic fibrosis	3	NOP10 CL E G H	55505	14378	OMIM:224230	Dyskeratosis congenita, autosomal recessive 1	.		17
HP:0002012	HP:0001394	Cirrhosis	3	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		452
HP:0002012	HP:0001395	Hepatic fibrosis	3	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0002012	HP:0001744	Splenomegaly	3	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	HP:0040283 - Occasional		452
HP:0002012	HP:0001971	Hypersplenism	3	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	HP:0040283 - Occasional		452
HP:0002012	HP:0001396	Cholestasis	3	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2	.		138
HP:0002012	HP:0001744	Splenomegaly	3	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional		138
HP:0002012	HP:0002240	Hepatomegaly	3	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional		138
HP:0002012	HP:0001396	Cholestasis	3	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1			258
HP:0002012	HP:0001744	Splenomegaly	3	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1			258
HP:0002012	HP:0002240	Hepatomegaly	3	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1			258
HP:0002012	HP:0001396	Cholestasis	3	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2			33
HP:0002012	HP:0001744	Splenomegaly	3	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.		33
HP:0002012	HP:0002240	Hepatomegaly	3	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.		33
HP:0002012	HP:0001395	Hepatic fibrosis	3	NPHP1 CL E G H	4867	7905	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		85
HP:0002012	HP:0001395	Hepatic fibrosis	3	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome			85
HP:0002012	HP:0001080	Biliary tract abnormality	3	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0002012	HP:0001396	Cholestasis	3	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0002012	HP:0001737	Pancreatic cysts	3	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0002012	HP:0001744	Splenomegaly	3	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0002012	HP:0002240	Hepatomegaly	3	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0002012	HP:0001395	Hepatic fibrosis	3	NPHP3 CL E G H	27031	7907	OMIM:604387	Nephronophthisis 3	.		157
HP:0002012	HP:0001080	Biliary tract abnormality	3	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome			157
HP:0002012	HP:0030146	Abnormal liver parenchyma morphology	3	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome	HP:0040282 - Frequent		157
HP:0002012	HP:0001080	Biliary tract abnormality	3	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0002012	HP:0001394	Cirrhosis	3	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.		157
HP:0002012	HP:0001395	Hepatic fibrosis	3	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.		157
HP:0002012	HP:0001396	Cholestasis	3	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.		157
HP:0002012	HP:0001737	Pancreatic cysts	3	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.		157
HP:0002012	HP:0001744	Splenomegaly	3	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0002012	HP:0002240	Hepatomegaly	3	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.		157
HP:0002012	HP:0100732	Pancreatic fibrosis	3	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.		157
HP:0002012	HP:0006276	Hyperechogenic pancreas	3	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0002012	HP:0006563	Malformation of the hepatic ductal plate	3	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0002012	HP:0006706	Cystic liver disease	3	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0002012	HP:0009799	Supernumerary spleens	3	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0002012	HP:0001395	Hepatic fibrosis	3	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome			157
HP:0002012	HP:0001395	Hepatic fibrosis	3	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome			220
HP:0002012	HP:0001394	Cirrhosis	3	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		12
HP:0002012	HP:0001744	Splenomegaly	3	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		12
HP:0002012	HP:0002240	Hepatomegaly	3	NPM1 CL E G H	4869	7910	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		12
HP:0002012	HP:0001394	Cirrhosis	3	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5			14
HP:0002012	HP:0001396	Cholestasis	3	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5			14
HP:0002012	HP:0001396	Cholestasis	3	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy			14
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy			14
HP:0002012	HP:0002240	Hepatomegaly	3	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		102
HP:0002012	HP:0001744	Splenomegaly	3	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.		102
HP:0002012	HP:0002240	Hepatomegaly	3	NRAS CL E G H	4893	7989	OMIM:614470	RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic	.		102
HP:0002012	HP:0001396	Cholestasis	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0002012	HP:0001396	Cholestasis	3	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0002012	HP:0002240	Hepatomegaly	3	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0002012	HP:0001080	Biliary tract abnormality	3	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		118
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		118
HP:0002012	HP:0009799	Supernumerary spleens	3	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0002012	HP:0031137	Storage in hepatocytes	3	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			2
HP:0002012	HP:0001733	Pancreatitis	3	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10			2
HP:0002012	HP:0031137	Storage in hepatocytes	3	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10			2
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	NTHL1 CL E G H	4913	8028	OMIM:616415	Familial adenomatous polyposis 3			2
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	NTHL1 CL E G H	4913	8028	ORPHA:454840	NTHL1-related attenuated familial adenomatous polyposis	HP:0040283 - Occasional		2
HP:0002012	HP:0002240	Hepatomegaly	3	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		89
HP:0002012	HP:0100757	Pancreatoblastoma	3	NUTM1 CL E G H	256646	29919	ORPHA:443167	NUT midline carcinoma	HP:0040282 - Frequent
HP:0002012	HP:0012142	Pancreatic squamous cell carcinoma	3	NUTM1 CL E G H	256646	29919	ORPHA:443167	NUT midline carcinoma	HP:0040283 - Occasional
HP:0002012	HP:0001744	Splenomegaly	3	OAS1 CL E G H	4938	8086	OMIM:618042	Pulmonary alveolar proteinosis with hypogammaglobulinemia			2
HP:0002012	HP:0001396	Cholestasis	3	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0002012	HP:0001744	Splenomegaly	3	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.		23
HP:0002012	HP:0002240	Hepatomegaly	3	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.		23
HP:0002012	HP:0009799	Supernumerary spleens	3	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0009799	Supernumerary spleens	3	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0009799	Supernumerary spleens	3	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0009799	Supernumerary spleens	3	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0001395	Hepatic fibrosis	3	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.		201
HP:0002012	HP:0001737	Pancreatic cysts	3	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0002012	HP:0006706	Cystic liver disease	3	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0002012	HP:0001737	Pancreatic cysts	3	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional		201
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1			201
HP:0002012	HP:0009799	Supernumerary spleens	3	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	ORAI1 CL E G H	84876	25896	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome			19
HP:0002012	HP:0001744	Splenomegaly	3	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.		73
HP:0002012	HP:0002240	Hepatomegaly	3	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.		73
HP:0002012	HP:0001744	Splenomegaly	3	OTC CL E G H	5009	8512	ORPHA:664	Ornithine transcarbamylase deficiency	HP:0040281 - Very frequent		369
HP:0002012	HP:0002240	Hepatomegaly	3	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0002012	HP:0001396	Cholestasis	3	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma			1349
HP:0002012	HP:0001744	Splenomegaly	3	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma			1349
HP:0002012	HP:0002240	Hepatomegaly	3	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma			1349
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040280 - Obligate		1349
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma			1349
HP:0002012	HP:0001396	Cholestasis	3	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma			192
HP:0002012	HP:0001744	Splenomegaly	3	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma			192
HP:0002012	HP:0002240	Hepatomegaly	3	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma			192
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040280 - Obligate		192
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma			192
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	PALLD CL E G H	23022	17068	OMIM:606856	PANCREATIC CANCER, SUSCEPTIBILITY TO, 1			192
HP:0002012	HP:0001394	Cirrhosis	3	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		26
HP:0002012	HP:0001744	Splenomegaly	3	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		26
HP:0002012	HP:0002240	Hepatomegaly	3	PARN CL E G H	5073	8609	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		26
HP:0002012	HP:0001396	Cholestasis	3	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	PAX4 CL E G H	5078	8618	OMIM:612227	Diabetes mellitus, ketosis-prone			55
HP:0002012	HP:0012028	Hepatocellular adenoma	3	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040284 - Very rare		55
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	PAX4 CL E G H	5078	8618	ORPHA:552	MODY			55
HP:0002012	HP:0012094	Abnormal pancreas size	3	PAX4 CL E G H	5078	8618	ORPHA:552	MODY			55
HP:0002012	HP:0001396	Cholestasis	3	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia			63
HP:0002012	HP:0001396	Cholestasis	3	PAX8 CL E G H	7849	8622	ORPHA:95720	Thyroid hypoplasia			63
HP:0002012	HP:0002240	Hepatomegaly	3	PC CL E G H	5091	8636	OMIM:266150	Pyruvate carboxylase deficiency	.		118
HP:0002012	HP:0001733	Pancreatitis	3	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.		96
HP:0002012	HP:0002240	Hepatomegaly	3	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.		96
HP:0002012	HP:0002240	Hepatomegaly	3	PCCA CL E G H	5095	8653	ORPHA:35	Propionic acidemia	HP:0040282 - Frequent		96
HP:0002012	HP:0001733	Pancreatitis	3	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.		92
HP:0002012	HP:0002240	Hepatomegaly	3	PCCB CL E G H	5096	8654	ORPHA:35	Propionic acidemia	HP:0040282 - Frequent		92
HP:0002012	HP:0002240	Hepatomegaly	3	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.		92
HP:0002012	HP:0002240	Hepatomegaly	3	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	.		53
HP:0002012	HP:0031137	Storage in hepatocytes	3	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic			53
HP:0002012	HP:0031140	Abnormal liver sonography	3	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic			53
HP:0002012	HP:0031137	Storage in hepatocytes	3	PCK2 CL E G H	5106	8725	OMIM:261650	Phosphoenolpyruvate carboxykinase 2, mitochondrial			6
HP:0002012	HP:0001396	Cholestasis	3	PCSK1 CL E G H	5122	8743	ORPHA:71528	Obesity due to prohormone convertase I deficiency	HP:0040282 - Frequent		65
HP:0002012	HP:0031137	Storage in hepatocytes	3	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia			178
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0002012	HP:0001733	Pancreatitis	3	PDE11A CL E G H	50940	8773	OMIM:610475	Pigmented nodular adrenocortical disease, primary, 2			13
HP:0002012	HP:0031137	Storage in hepatocytes	3	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0002012	HP:0031137	Storage in hepatocytes	3	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0002012	HP:0002240	Hepatomegaly	3	PDGFB CL E G H	5155	8800	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent		9
HP:0002012	HP:0001744	Splenomegaly	3	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic	.		337
HP:0002012	HP:0002240	Hepatomegaly	3	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic	.		337
HP:0002012	HP:0002240	Hepatomegaly	3	PDGFRB CL E G H	5159	8804	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent		28
HP:0002012	HP:0001394	Cirrhosis	3	PDGFRL CL E G H	5157	8805	OMIM:114550	Hepatocellular carcinoma			2
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	PDGFRL CL E G H	5157	8805	OMIM:114550	Hepatocellular carcinoma	.		2
HP:0002012	HP:0012115	Hepatitis	3	PDGFRL CL E G H	5157	8805	OMIM:114550	Hepatocellular carcinoma			2
HP:0002012	HP:0001734	Annular pancreas	3	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002012	HP:0031137	Storage in hepatocytes	3	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0002012	HP:0012094	Abnormal pancreas size	3	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0002012	HP:0012028	Hepatocellular adenoma	3	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040284 - Very rare		30
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	PDX1 CL E G H	3651	6107	ORPHA:552	MODY			30
HP:0002012	HP:0012094	Abnormal pancreas size	3	PDX1 CL E G H	3651	6107	ORPHA:552	MODY			30
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital			30
HP:0002012	HP:0012094	Abnormal pancreas size	3	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital			30
HP:0002012	HP:0001396	Cholestasis	3	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0002012	HP:0001744	Splenomegaly	3	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0002012	HP:0001744	Splenomegaly	3	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040283 - Occasional		66
HP:0002012	HP:0002240	Hepatomegaly	3	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0002012	HP:0002240	Hepatomegaly	3	PEPD CL E G H	5184	8840	ORPHA:742	Prolidase deficiency	HP:0040283 - Occasional		66
HP:0002012	HP:0001396	Cholestasis	3	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy
HP:0002012	HP:0002240	Hepatomegaly	3	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		169
HP:0002012	HP:0001080	Biliary tract abnormality	3	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0002012	HP:0001396	Cholestasis	3	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0002012	HP:0002240	Hepatomegaly	3	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.		169
HP:0002012	HP:0001394	Cirrhosis	3	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B	.		169
HP:0002012	HP:0001395	Hepatic fibrosis	3	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B	.		169
HP:0002012	HP:0002240	Hepatomegaly	3	PEX1 CL E G H	5189	8850	OMIM:601539	Peroxisome biogenesis disorder 1B	.		169
HP:0002012	HP:0001396	Cholestasis	3	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0002012	HP:0002240	Hepatomegaly	3	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		169
HP:0002012	HP:0002240	Hepatomegaly	3	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		75
HP:0002012	HP:0002240	Hepatomegaly	3	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)	.		75
HP:0002012	HP:0001396	Cholestasis	3	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0002012	HP:0001396	Cholestasis	3	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0002012	HP:0002240	Hepatomegaly	3	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		75
HP:0002012	HP:0002240	Hepatomegaly	3	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		4
HP:0002012	HP:0001396	Cholestasis	3	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0002012	HP:0002240	Hepatomegaly	3	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		4
HP:0002012	HP:0002240	Hepatomegaly	3	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		65
HP:0002012	HP:0002240	Hepatomegaly	3	PEX12 CL E G H	5193	8854	OMIM:614859	Peroxisome biogenesis disorder 3A (Zellweger)	.		65
HP:0002012	HP:0002240	Hepatomegaly	3	PEX12 CL E G H	5193	8854	OMIM:266510	Peroxisome biogenesis disorder 3B	.		65
HP:0002012	HP:0001396	Cholestasis	3	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0002012	HP:0002240	Hepatomegaly	3	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		65
HP:0002012	HP:0002240	Hepatomegaly	3	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		66
HP:0002012	HP:0001396	Cholestasis	3	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0002012	HP:0002240	Hepatomegaly	3	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		66
HP:0002012	HP:0002240	Hepatomegaly	3	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		46
HP:0002012	HP:0001396	Cholestasis	3	PEX14 CL E G H	5195	8856	OMIM:614887	Peroxisome biogenesis disorder 13A (Zellweger)	.		46
HP:0002012	HP:0002240	Hepatomegaly	3	PEX14 CL E G H	5195	8856	OMIM:614887	Peroxisome biogenesis disorder 13A (Zellweger)	.		46
HP:0002012	HP:0001396	Cholestasis	3	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0002012	HP:0002240	Hepatomegaly	3	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		46
HP:0002012	HP:0002240	Hepatomegaly	3	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		59
HP:0002012	HP:0001396	Cholestasis	3	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)			59
HP:0002012	HP:0002240	Hepatomegaly	3	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)	.		59
HP:0002012	HP:0001396	Cholestasis	3	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0002012	HP:0002240	Hepatomegaly	3	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		59
HP:0002012	HP:0002240	Hepatomegaly	3	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		62
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0002012	HP:0001396	Cholestasis	3	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0002012	HP:0002240	Hepatomegaly	3	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		62
HP:0002012	HP:0002240	Hepatomegaly	3	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		82
HP:0002012	HP:0001080	Biliary tract abnormality	3	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0002012	HP:0001396	Cholestasis	3	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0002012	HP:0001744	Splenomegaly	3	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.		82
HP:0002012	HP:0002240	Hepatomegaly	3	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.		82
HP:0002012	HP:0001396	Cholestasis	3	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0002012	HP:0002240	Hepatomegaly	3	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		82
HP:0002012	HP:0002240	Hepatomegaly	3	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		106
HP:0002012	HP:0001396	Cholestasis	3	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)			106
HP:0002012	HP:0002240	Hepatomegaly	3	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)	.		106
HP:0002012	HP:0001396	Cholestasis	3	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0002012	HP:0002240	Hepatomegaly	3	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		106
HP:0002012	HP:0002240	Hepatomegaly	3	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		47
HP:0002012	HP:0002240	Hepatomegaly	3	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)	.		47
HP:0002012	HP:0001396	Cholestasis	3	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0002012	HP:0002240	Hepatomegaly	3	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		47
HP:0002012	HP:0002240	Hepatomegaly	3	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		99
HP:0002012	HP:0001080	Biliary tract abnormality	3	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0002012	HP:0001396	Cholestasis	3	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0002012	HP:0002240	Hepatomegaly	3	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.		99
HP:0002012	HP:0001396	Cholestasis	3	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0002012	HP:0002240	Hepatomegaly	3	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		99
HP:0002012	HP:0002240	Hepatomegaly	3	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease	HP:0040281 - Very frequent		98
HP:0002012	HP:0002240	Hepatomegaly	3	PEX6 CL E G H	5190	8859	OMIM:614862	Peroxisome biogenesis disorder 4A (Zellweger)	.		98
HP:0002012	HP:0002240	Hepatomegaly	3	PEX6 CL E G H	5190	8859	OMIM:614863	Peroxisome biogenesis disorder 4B	.		98
HP:0002012	HP:0001396	Cholestasis	3	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0002012	HP:0002240	Hepatomegaly	3	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		98
HP:0002012	HP:0001744	Splenomegaly	3	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease	HP:0040282 - Frequent		72
HP:0002012	HP:0001396	Cholestasis	3	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII			64
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII			64
HP:0002012	HP:0001396	Cholestasis	3	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0002012	HP:0001406	Intrahepatic cholestasis	3	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0002012	HP:0002240	Hepatomegaly	3	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0002012	HP:0500030	Abnormal hepatic glycogen storage	3	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0002012	HP:0012115	Hepatitis	3	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It	.		58
HP:0002012	HP:0031137	Storage in hepatocytes	3	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0002012	HP:0001394	Cirrhosis	3	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare		54
HP:0002012	HP:0001395	Hepatic fibrosis	3	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040282 - Frequent		54
HP:0002012	HP:0001396	Cholestasis	3	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional		54
HP:0002012	HP:0001744	Splenomegaly	3	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare		54
HP:0002012	HP:0002240	Hepatomegaly	3	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040281 - Very frequent		54
HP:0002012	HP:0006580	Portal fibrosis	3	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare		54
HP:0002012	HP:0012028	Hepatocellular adenoma	3	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare		54
HP:0002012	HP:0031137	Storage in hepatocytes	3	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0002012	HP:0001744	Splenomegaly	3	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa			54
HP:0002012	HP:0002240	Hepatomegaly	3	PHKA2 CL E G H	5256	8926	OMIM:306000	Glycogen storage disease ixa	.		54
HP:0002012	HP:0001394	Cirrhosis	3	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0002012	HP:0001395	Hepatic fibrosis	3	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0002012	HP:0001744	Splenomegaly	3	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0002012	HP:0002240	Hepatomegaly	3	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0002012	HP:0012028	Hepatocellular adenoma	3	PHKB CL E G H	5257	8927	ORPHA:79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency			101
HP:0002012	HP:0001744	Splenomegaly	3	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb			101
HP:0002012	HP:0002240	Hepatomegaly	3	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb	.		101
HP:0002012	HP:0500030	Abnormal hepatic glycogen storage	3	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb			101
HP:0002012	HP:0001394	Cirrhosis	3	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare		48
HP:0002012	HP:0001395	Hepatic fibrosis	3	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040282 - Frequent		48
HP:0002012	HP:0001396	Cholestasis	3	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional		48
HP:0002012	HP:0001744	Splenomegaly	3	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare		48
HP:0002012	HP:0002240	Hepatomegaly	3	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040281 - Very frequent		48
HP:0002012	HP:0006580	Portal fibrosis	3	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare		48
HP:0002012	HP:0012028	Hepatocellular adenoma	3	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare		48
HP:0002012	HP:0031137	Storage in hepatocytes	3	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0002012	HP:0001080	Biliary tract abnormality	3	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc			48
HP:0002012	HP:0001394	Cirrhosis	3	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc			48
HP:0002012	HP:0001744	Splenomegaly	3	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc	.		48
HP:0002012	HP:0002240	Hepatomegaly	3	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc			48
HP:0002012	HP:0500030	Abnormal hepatic glycogen storage	3	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc			48
HP:0002012	HP:0001744	Splenomegaly	3	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease	HP:0040282 - Frequent		45
HP:0002012	HP:0001080	Biliary tract abnormality	3	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0002012	HP:0012115	Hepatitis	3	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare		11
HP:0002012	HP:0001396	Cholestasis	3	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis			36
HP:0002012	HP:0001744	Splenomegaly	3	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent		36
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis			36
HP:0002012	HP:0001396	Cholestasis	3	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema			36
HP:0002012	HP:0001744	Splenomegaly	3	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:0002012	HP:0002240	Hepatomegaly	3	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:0002012	HP:0005264	Abnormality of the gallbladder	3	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema			36
HP:0002012	HP:0012115	Hepatitis	3	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:0002012	HP:0001744	Splenomegaly	3	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0002012	HP:0001394	Cirrhosis	3	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	HP:0040283 - Occasional		46
HP:0002012	HP:0002240	Hepatomegaly	3	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	HP:0040283 - Occasional		46
HP:0002012	HP:0040134	Abnormal hepatic iron concentration	3	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0002012	HP:0031137	Storage in hepatocytes	3	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0002012	HP:0001394	Cirrhosis	3	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0002012	HP:0001744	Splenomegaly	3	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0002012	HP:0002240	Hepatomegaly	3	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0002012	HP:0001396	Cholestasis	3	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria			46
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		7
HP:0002012	HP:0001744	Splenomegaly	3	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency	.		6
HP:0002012	HP:0002240	Hepatomegaly	3	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency	.		6
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency			6
HP:0002012	HP:0002240	Hepatomegaly	3	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0002012	HP:0001744	Splenomegaly	3	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome	.
HP:0002012	HP:0002240	Hepatomegaly	3	PIK3C2A CL E G H	5286	8971	OMIM:618440	Oculoskeletodental syndrome	.
HP:0002012	HP:0001744	Splenomegaly	3	PIK3CA CL E G H	5290	8975	OMIM:612918	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	.		162
HP:0002012	HP:0001394	Cirrhosis	3	PIK3CA CL E G H	5290	8975	OMIM:114550	Hepatocellular carcinoma			162
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	PIK3CA CL E G H	5290	8975	OMIM:114550	Hepatocellular carcinoma	.		162
HP:0002012	HP:0012115	Hepatitis	3	PIK3CA CL E G H	5290	8975	OMIM:114550	Hepatocellular carcinoma			162
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		162
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		162
HP:0002012	HP:0001744	Splenomegaly	3	PIK3CD CL E G H	5293	8977	OMIM:615513	IMMUNODEFICIENCY 14; IMD14			9
HP:0002012	HP:0001744	Splenomegaly	3	PIK3CG CL E G H	5294	8978	OMIM:619802	IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION; IMD97			2
HP:0002012	HP:0012115	Hepatitis	3	PIK3R1 CL E G H	5295	8979	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		43
HP:0002012	HP:0001744	Splenomegaly	3	PIK3R1 CL E G H	5295	8979	OMIM:616005	Immunodeficiency 36	.		43
HP:0002012	HP:0001737	Pancreatic cysts	3	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional		342
HP:0002012	HP:0006706	Cystic liver disease	3	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease			342
HP:0002012	HP:0006706	Cystic liver disease	3	PKD1 CL E G H	5310	9008	OMIM:173900	Polycystic kidneys			342
HP:0002012	HP:0001737	Pancreatic cysts	3	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional		106
HP:0002012	HP:0006706	Cystic liver disease	3	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease			106
HP:0002012	HP:0001396	Cholestasis	3	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2			106
HP:0002012	HP:0002240	Hepatomegaly	3	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2			106
HP:0002012	HP:0006706	Cystic liver disease	3	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2			106
HP:0002012	HP:0001080	Biliary tract abnormality	3	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0002012	HP:0001395	Hepatic fibrosis	3	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040281 - Very frequent		563
HP:0002012	HP:0001396	Cholestasis	3	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		563
HP:0002012	HP:0001737	Pancreatic cysts	3	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040284 - Very rare		563
HP:0002012	HP:0001744	Splenomegaly	3	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		563
HP:0002012	HP:0001971	Hypersplenism	3	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		563
HP:0002012	HP:0002240	Hepatomegaly	3	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0002012	HP:0002884	Hepatoblastoma	3	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional		563
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0002012	HP:0001080	Biliary tract abnormality	3	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease			563
HP:0002012	HP:0001394	Cirrhosis	3	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040283 - Occasional		563
HP:0002012	HP:0001395	Hepatic fibrosis	3	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040284 - Very rare		563
HP:0002012	HP:0001396	Cholestasis	3	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040281 - Very frequent		563
HP:0002012	HP:0001406	Intrahepatic cholestasis	3	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040282 - Frequent		563
HP:0002012	HP:0001744	Splenomegaly	3	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040283 - Occasional		563
HP:0002012	HP:0100523	Liver abscess	3	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040284 - Very rare		563
HP:0002012	HP:0002240	Hepatomegaly	3	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040283 - Occasional		563
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease			563
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease			563
HP:0002012	HP:0001395	Hepatic fibrosis	3	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease			563
HP:0002012	HP:0001737	Pancreatic cysts	3	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease	.		563
HP:0002012	HP:0001744	Splenomegaly	3	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease	.		563
HP:0002012	HP:0002240	Hepatomegaly	3	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease	.		563
HP:0002012	HP:0006706	Cystic liver disease	3	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease			563
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease			563
HP:0002012	HP:0001396	Cholestasis	3	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency			51
HP:0002012	HP:0001744	Splenomegaly	3	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency	HP:0040281 - Very frequent		51
HP:0002012	HP:0001396	Cholestasis	3	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0002012	HP:0001744	Splenomegaly	3	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells	.		51
HP:0002012	HP:0002240	Hepatomegaly	3	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0002012	HP:0002240	Hepatomegaly	3	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0002012	HP:0001744	Splenomegaly	3	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis			2
HP:0002012	HP:0002240	Hepatomegaly	3	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis			2
HP:0002012	HP:0001744	Splenomegaly	3	PLEKHM1 CL E G H	9842	29017	OMIM:618107	OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3			2
HP:0002012	HP:0002240	Hepatomegaly	3	PLEKHM1 CL E G H	9842	29017	OMIM:618107	OSTEOPETROSIS, AUTOSOMAL DOMINANT 3; OPTA3			2
HP:0002012	HP:0031137	Storage in hepatocytes	3	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4			19
HP:0002012	HP:0001395	Hepatic fibrosis	3	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy	HP:0040282 - Frequent		19
HP:0002012	HP:0031137	Storage in hepatocytes	3	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy			19
HP:0002012	HP:0001395	Hepatic fibrosis	3	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.		150
HP:0002012	HP:0002240	Hepatomegaly	3	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.		150
HP:0002012	HP:0031137	Storage in hepatocytes	3	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0002012	HP:0001395	Hepatic fibrosis	3	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional		150
HP:0002012	HP:0030146	Abnormal liver parenchyma morphology	3	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional		150
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		56
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		56
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1121
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1121
HP:0002012	HP:0001744	Splenomegaly	3	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	.		52
HP:0002012	HP:0002240	Hepatomegaly	3	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy	.		65
HP:0002012	HP:0031137	Storage in hepatocytes	3	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy			65
HP:0002012	HP:0001733	Pancreatitis	3	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0002012	HP:0002240	Hepatomegaly	3	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040283 - Occasional		65
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0002012	HP:0031137	Storage in hepatocytes	3	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0002012	HP:0001733	Pancreatitis	3	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040283 - Occasional		65
HP:0002012	HP:0001744	Splenomegaly	3	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040284 - Very rare		65
HP:0002012	HP:0002240	Hepatomegaly	3	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040282 - Frequent		65
HP:0002012	HP:0001395	Hepatic fibrosis	3	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome			103
HP:0002012	HP:0002240	Hepatomegaly	3	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.		731
HP:0002012	HP:0031137	Storage in hepatocytes	3	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome			731
HP:0002012	HP:0001080	Biliary tract abnormality	3	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)			464
HP:0002012	HP:0001394	Cirrhosis	3	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)			464
HP:0002012	HP:0002240	Hepatomegaly	3	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.		464
HP:0002012	HP:0031137	Storage in hepatocytes	3	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)			464
HP:0002012	HP:0001394	Cirrhosis	3	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional		464
HP:0002012	HP:0031137	Storage in hepatocytes	3	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0002012	HP:0001396	Cholestasis	3	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)	.		45
HP:0002012	HP:0002240	Hepatomegaly	3	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)	.		45
HP:0002012	HP:0031137	Storage in hepatocytes	3	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0002012	HP:0001396	Cholestasis	3	POMC CL E G H	5443	9201	ORPHA:71526	Obesity due to pro-opiomelanocortin deficiency	HP:0040282 - Frequent		27
HP:0002012	HP:0001396	Cholestasis	3	POMC CL E G H	5443	9201	OMIM:609734	Obesity, early-onset, with adrenal insufficiency and red hair	.		27
HP:0002012	HP:0001396	Cholestasis	3	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0002012	HP:0001396	Cholestasis	3	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1			36
HP:0002012	HP:0001080	Biliary tract abnormality	3	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0001394	Cirrhosis	3	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0002012	HP:0001395	Hepatic fibrosis	3	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002012	HP:0001396	Cholestasis	3	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0012115	Hepatitis	3	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0002012	HP:0001394	Cirrhosis	3	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		42
HP:0002012	HP:0002240	Hepatomegaly	3	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040281 - Very frequent		42
HP:0002012	HP:0031137	Storage in hepatocytes	3	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0002012	HP:0001394	Cirrhosis	3	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.		42
HP:0002012	HP:0031137	Storage in hepatocytes	3	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3			42
HP:0002012	HP:0001394	Cirrhosis	3	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040284 - Very rare		42
HP:0002012	HP:0001733	Pancreatitis	3	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional		42
HP:0002012	HP:0001744	Splenomegaly	3	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional		42
HP:0002012	HP:0002240	Hepatomegaly	3	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040281 - Very frequent		42
HP:0002012	HP:0031137	Storage in hepatocytes	3	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	PPOX CL E G H	5498	9280	ORPHA:79473	Porphyria variegata	HP:0040284 - Very rare		41
HP:0002012	HP:0002240	Hepatomegaly	3	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0002012	HP:0009799	Supernumerary spleens	3	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0002012	HP:0001734	Annular pancreas	3	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0002012	HP:0031137	Storage in hepatocytes	3	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0002012	HP:0001396	Cholestasis	3	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			58
HP:0002012	HP:0001744	Splenomegaly	3	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent		58
HP:0002012	HP:0002240	Hepatomegaly	3	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent		58
HP:0002012	HP:0001396	Cholestasis	3	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0002012	HP:0001744	Splenomegaly	3	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0002012	HP:0002240	Hepatomegaly	3	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0002012	HP:0001394	Cirrhosis	3	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002012	HP:0001395	Hepatic fibrosis	3	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002012	HP:0009799	Supernumerary spleens	3	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002012	HP:0031137	Storage in hepatocytes	3	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0002012	HP:0001396	Cholestasis	3	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma	HP:0040283 - Occasional		134
HP:0002012	HP:0031137	Storage in hepatocytes	3	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		10
HP:0002012	HP:0001744	Splenomegaly	3	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040281 - Very frequent		10
HP:0002012	HP:0001971	Hypersplenism	3	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent		10
HP:0002012	HP:0002240	Hepatomegaly	3	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent		10
HP:0002012	HP:0012115	Hepatitis	3	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional		10
HP:0002012	HP:0001744	Splenomegaly	3	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0002012	HP:0002240	Hepatomegaly	3	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0002012	HP:0001744	Splenomegaly	3	PRKCD CL E G H	5580	9399	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		10
HP:0002012	HP:0002240	Hepatomegaly	3	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease	HP:0040281 - Very frequent		63
HP:0002012	HP:0006706	Cystic liver disease	3	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease			63
HP:0002012	HP:0006706	Cystic liver disease	3	PRKCSH CL E G H	5589	9411	OMIM:174050	Polycystic liver disease 1 with or without kidney cysts			63
HP:0002012	HP:0001734	Annular pancreas	3	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002012	HP:0031137	Storage in hepatocytes	3	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0002012	HP:0001396	Cholestasis	3	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0002012	HP:0001396	Cholestasis	3	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0002012	HP:0001396	Cholestasis	3	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis			51
HP:0002012	HP:0001733	Pancreatitis	3	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis			51
HP:0002012	HP:0005213	Pancreatic calcification	3	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional		51
HP:0002012	HP:0001733	Pancreatitis	3	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary	.		51
HP:0002012	HP:0005206	Pancreatic pseudocyst	3	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary	.		51
HP:0002012	HP:0005213	Pancreatic calcification	3	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary	.		51
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary			51
HP:0002012	HP:0001396	Cholestasis	3	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis			1
HP:0002012	HP:0001733	Pancreatitis	3	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis			1
HP:0002012	HP:0005213	Pancreatic calcification	3	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional		1
HP:0002012	HP:0001733	Pancreatitis	3	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary	.		1
HP:0002012	HP:0005206	Pancreatic pseudocyst	3	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary	.		1
HP:0002012	HP:0005213	Pancreatic calcification	3	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary	.		1
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary			1
HP:0002012	HP:0001733	Pancreatitis	3	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0002012	HP:0001744	Splenomegaly	3	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency	.		81
HP:0002012	HP:0002240	Hepatomegaly	3	PSAP CL E G H	5660	9498	OMIM:611721	Combined saposin deficiency	.		81
HP:0002012	HP:0001744	Splenomegaly	3	PSAP CL E G H	5660	9498	ORPHA:139406	Encephalopathy due to prosaposin deficiency	HP:0040281 - Very frequent		81
HP:0002012	HP:0002240	Hepatomegaly	3	PSAP CL E G H	5660	9498	ORPHA:139406	Encephalopathy due to prosaposin deficiency	HP:0040281 - Very frequent		81
HP:0002012	HP:0001744	Splenomegaly	3	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0002012	HP:0001971	Hypersplenism	3	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0002012	HP:0002240	Hepatomegaly	3	PSAP CL E G H	5660	9498	OMIM:610539	Gaucher disease, atypical			81
HP:0002012	HP:0001080	Biliary tract abnormality	3	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0002012	HP:0001744	Splenomegaly	3	PSMB10 CL E G H	5699	9538	OMIM:619175	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0002012	HP:0002240	Hepatomegaly	3	PSMB10 CL E G H	5699	9538	OMIM:619175	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5; PRAAS5
HP:0002012	HP:0001744	Splenomegaly	3	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0002012	HP:0002240	Hepatomegaly	3	PSMB4 CL E G H	5692	9541	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0002012	HP:0001744	Splenomegaly	3	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0002012	HP:0002240	Hepatomegaly	3	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0002012	HP:0001744	Splenomegaly	3	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0002012	HP:0002240	Hepatomegaly	3	PSMB9 CL E G H	5698	9546	OMIM:617591	Proteasome-Associated autoinflammatory syndrome 3	.
HP:0002012	HP:0001744	Splenomegaly	3	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0002012	HP:0002240	Hepatomegaly	3	PSMG2 CL E G H	56984	24929	OMIM:619183	PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4; PRAAS4
HP:0002012	HP:0001744	Splenomegaly	3	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0002012	HP:0002240	Hepatomegaly	3	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0002012	HP:0001744	Splenomegaly	3	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome	HP:0040284 - Very rare		948
HP:0002012	HP:0002240	Hepatomegaly	3	PTEN CL E G H	5728	9588	OMIM:605309	Macrocephaly/autism syndrome	HP:0040284 - Very rare		948
HP:0002012	HP:0001744	Splenomegaly	3	PTEN CL E G H	5728	9588	ORPHA:744	Proteus syndrome	HP:0040283 - Occasional		948
HP:0002012	HP:0001744	Splenomegaly	3	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040283 - Occasional		948
HP:0002012	HP:0012094	Abnormal pancreas size	3	PTF1A CL E G H	256297	23734	OMIM:615935	Pancreatic agenesis 2			22
HP:0002012	HP:0012094	Abnormal pancreas size	3	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0002012	HP:0012094	Abnormal pancreas size	3	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome			22
HP:0002012	HP:0002240	Hepatomegaly	3	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		291
HP:0002012	HP:0001744	Splenomegaly	3	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0002012	HP:0002240	Hepatomegaly	3	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
HP:0002012	HP:0001733	Pancreatitis	3	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		3
HP:0002012	HP:0001744	Splenomegaly	3	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			3
HP:0002012	HP:0002240	Hepatomegaly	3	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			3
HP:0002012	HP:0001080	Biliary tract abnormality	3	PTPN3 CL E G H	5774	9655	ORPHA:70567	Cholangiocarcinoma			1
HP:0002012	HP:0001396	Cholestasis	3	PTPN3 CL E G H	5774	9655	ORPHA:70567	Cholangiocarcinoma			1
HP:0002012	HP:0001744	Splenomegaly	3	PTPRC CL E G H	5788	9666	OMIM:619924				25
HP:0002012	HP:0002240	Hepatomegaly	3	PTPRC CL E G H	5788	9666	OMIM:619924				25
HP:0002012	HP:0002240	Hepatomegaly	3	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040283 - Occasional		6
HP:0002012	HP:0006276	Hyperechogenic pancreas	3	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040283 - Occasional		6
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0002012	HP:0012094	Abnormal pancreas size	3	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0002012	HP:0030146	Abnormal liver parenchyma morphology	3	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040283 - Occasional		6
HP:0002012	HP:0001395	Hepatic fibrosis	3	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.		6
HP:0002012	HP:0002240	Hepatomegaly	3	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.		6
HP:0002012	HP:0100732	Pancreatic fibrosis	3	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.		6
HP:0002012	HP:0031137	Storage in hepatocytes	3	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0002012	HP:0002240	Hepatomegaly	3	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0002012	HP:0001394	Cirrhosis	3	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040284 - Very rare		71
HP:0002012	HP:0001395	Hepatic fibrosis	3	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040283 - Occasional		71
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040284 - Very rare		71
HP:0002012	HP:0002240	Hepatomegaly	3	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040281 - Very frequent		71
HP:0002012	HP:0006580	Portal fibrosis	3	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040283 - Occasional		71
HP:0002012	HP:0500030	Abnormal hepatic glycogen storage	3	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency			71
HP:0002012	HP:0002240	Hepatomegaly	3	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI			71
HP:0002012	HP:0500030	Abnormal hepatic glycogen storage	3	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI			71
HP:0002012	HP:0009799	Supernumerary spleens	3	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome			31
HP:0002012	HP:0009799	Supernumerary spleens	3	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0002012	HP:0001396	Cholestasis	3	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2			67
HP:0002012	HP:0001744	Splenomegaly	3	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2	HP:0040281 - Very frequent		67
HP:0002012	HP:0002240	Hepatomegaly	3	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2	HP:0040281 - Very frequent		67
HP:0002012	HP:0001744	Splenomegaly	3	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2			67
HP:0002012	HP:0002240	Hepatomegaly	3	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2			67
HP:0002012	HP:0001396	Cholestasis	3	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0002012	HP:0001744	Splenomegaly	3	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0002012	HP:0002240	Hepatomegaly	3	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040280 - Obligate
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	RABL3 CL E G H	285282	18072	OMIM:618680	PANCREATIC CANCER, SUSCEPTIBILITY TO, 5; PNCA5
HP:0002012	HP:0001744	Splenomegaly	3	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B			9
HP:0002012	HP:0002240	Hepatomegaly	3	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B			9
HP:0002012	HP:0002240	Hepatomegaly	3	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		212
HP:0002012	HP:0001744	Splenomegaly	3	RAG1 CL E G H	5896	9831	ORPHA:231154	Combined immunodeficiency due to partial RAG1 deficiency	HP:0040281 - Very frequent		127
HP:0002012	HP:0001744	Splenomegaly	3	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.		127
HP:0002012	HP:0001744	Splenomegaly	3	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		127
HP:0002012	HP:0002240	Hepatomegaly	3	RAG1 CL E G H	5896	9831	OMIM:603554	Omenn syndrome	.		127
HP:0002012	HP:0002240	Hepatomegaly	3	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		127
HP:0002012	HP:0001744	Splenomegaly	3	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			127
HP:0002012	HP:0002240	Hepatomegaly	3	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional		127
HP:0002012	HP:0001744	Splenomegaly	3	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.		50
HP:0002012	HP:0001744	Splenomegaly	3	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		50
HP:0002012	HP:0002240	Hepatomegaly	3	RAG2 CL E G H	5897	9832	OMIM:603554	Omenn syndrome	.		50
HP:0002012	HP:0002240	Hepatomegaly	3	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		50
HP:0002012	HP:0001744	Splenomegaly	3	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency			50
HP:0002012	HP:0002240	Hepatomegaly	3	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional		50
HP:0002012	HP:0001734	Annular pancreas	3	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional		9
HP:0002012	HP:0012094	Abnormal pancreas size	3	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome			9
HP:0002012	HP:0002240	Hepatomegaly	3	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		3
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare
HP:0002012	HP:0001744	Splenomegaly	3	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040281 - Very frequent
HP:0002012	HP:0001971	Hypersplenism	3	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent
HP:0002012	HP:0002240	Hepatomegaly	3	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040282 - Frequent
HP:0002012	HP:0012115	Hepatitis	3	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001744	Splenomegaly	3	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0002012	HP:0002240	Hepatomegaly	3	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0002012	HP:0001395	Hepatic fibrosis	3	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0002012	HP:0001396	Cholestasis	3	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0002012	HP:0001744	Splenomegaly	3	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0002012	HP:0002240	Hepatomegaly	3	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency	HP:0040283 - Occasional		10
HP:0002012	HP:0001737	Pancreatic cysts	3	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome	.		10
HP:0002012	HP:0001744	Splenomegaly	3	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0002012	HP:0002240	Hepatomegaly	3	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0002012	HP:0001394	Cirrhosis	3	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		3
HP:0002012	HP:0001395	Hepatic fibrosis	3	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome			445
HP:0002012	HP:0001734	Annular pancreas	3	RECQL4 CL E G H	9401	9949	OMIM:268400	ROTHMUND-THOMSON SYNDROME; RTS			445
HP:0002012	HP:0001080	Biliary tract abnormality	3	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92			1
HP:0002012	HP:0002240	Hepatomegaly	3	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92			1
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			334
HP:0002012	HP:0001734	Annular pancreas	3	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0002012	HP:0031137	Storage in hepatocytes	3	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0002012	HP:0001734	Annular pancreas	3	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0002012	HP:0002240	Hepatomegaly	3	RFT1 CL E G H	91869	30220	OMIM:612015	Congenital disorder of glycosylation, type IN	.		92
HP:0002012	HP:0002240	Hepatomegaly	3	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG	HP:0040282 - Frequent		92
HP:0002012	HP:0009799	Supernumerary spleens	3	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W
HP:0002012	HP:0001080	Biliary tract abnormality	3	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II	.		38
HP:0002012	HP:0012115	Hepatitis	3	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II			38
HP:0002012	HP:0001080	Biliary tract abnormality	3	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II			38
HP:0002012	HP:0012115	Hepatitis	3	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II			38
HP:0002012	HP:0001080	Biliary tract abnormality	3	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome			28
HP:0002012	HP:0001396	Cholestasis	3	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome	.		28
HP:0002012	HP:0001734	Annular pancreas	3	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome	.		28
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome			28
HP:0002012	HP:0012094	Abnormal pancreas size	3	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome			28
HP:0002012	HP:0001080	Biliary tract abnormality	3	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II	.		26
HP:0002012	HP:0012115	Hepatitis	3	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II			26
HP:0002012	HP:0001080	Biliary tract abnormality	3	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II			26
HP:0002012	HP:0012115	Hepatitis	3	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II			26
HP:0002012	HP:0001080	Biliary tract abnormality	3	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II	.		34
HP:0002012	HP:0012115	Hepatitis	3	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II			34
HP:0002012	HP:0001080	Biliary tract abnormality	3	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II			34
HP:0002012	HP:0012115	Hepatitis	3	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II			34
HP:0002012	HP:0001396	Cholestasis	3	RHAG CL E G H	6005	10006	OMIM:268150	Anemia, hemolytic, Rh-null, Regulator type			13
HP:0002012	HP:0001396	Cholestasis	3	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis			13
HP:0002012	HP:0001396	Cholestasis	3	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis			13
HP:0002012	HP:0001744	Splenomegaly	3	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis	HP:0040283 - Occasional		13
HP:0002012	HP:0001744	Splenomegaly	3	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis	.		13
HP:0002012	HP:0002240	Hepatomegaly	3	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis	.		13
HP:0002012	HP:0001396	Cholestasis	3	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome			13
HP:0002012	HP:0001744	Splenomegaly	3	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome			13
HP:0002012	HP:0002240	Hepatomegaly	3	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome			13
HP:0002012	HP:0002240	Hepatomegaly	3	RHBDF2 CL E G H	79651	20788	ORPHA:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome	HP:0040282 - Frequent		80
HP:0002012	HP:0001396	Cholestasis	3	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome			8
HP:0002012	HP:0001744	Splenomegaly	3	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome			8
HP:0002012	HP:0002240	Hepatomegaly	3	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome			8
HP:0002012	HP:0001744	Splenomegaly	3	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced			16
HP:0002012	HP:0002240	Hepatomegaly	3	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced			16
HP:0002012	HP:0001396	Cholestasis	3	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome			16
HP:0002012	HP:0001744	Splenomegaly	3	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome			16
HP:0002012	HP:0002240	Hepatomegaly	3	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome			16
HP:0002012	HP:0001395	Hepatic fibrosis	3	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3			99
HP:0002012	HP:0001396	Cholestasis	3	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3			99
HP:0002012	HP:0001744	Splenomegaly	3	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3			99
HP:0002012	HP:0002240	Hepatomegaly	3	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3			99
HP:0002012	HP:0031137	Storage in hepatocytes	3	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3			99
HP:0002012	HP:0001744	Splenomegaly	3	RIPK1 CL E G H	8737	10019	OMIM:618852	AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0002012	HP:0002240	Hepatomegaly	3	RIPK1 CL E G H	8737	10019	OMIM:618852	AUTOINFLAMMATION WITH EPISODIC FEVER AND LYMPHADENOPATHY; AIEFL
HP:0002012	HP:0002240	Hepatomegaly	3	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		39
HP:0002012	HP:0002240	Hepatomegaly	3	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	HP:0040283 - Occasional		26
HP:0002012	HP:0031137	Storage in hepatocytes	3	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11			26
HP:0002012	HP:0002240	Hepatomegaly	3	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040283 - Occasional		37
HP:0002012	HP:0001744	Splenomegaly	3	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		37
HP:0002012	HP:0002240	Hepatomegaly	3	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040281 - Very frequent		37
HP:0002012	HP:0001396	Cholestasis	3	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0002012	HP:0001744	Splenomegaly	3	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0002012	HP:0002240	Hepatomegaly	3	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0002012	HP:0001744	Splenomegaly	3	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4	.		33
HP:0002012	HP:0002240	Hepatomegaly	3	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4	.		33
HP:0002012	HP:0001396	Cholestasis	3	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0002012	HP:0001744	Splenomegaly	3	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0002012	HP:0002240	Hepatomegaly	3	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0002012	HP:0001396	Cholestasis	3	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0002012	HP:0001744	Splenomegaly	3	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0002012	HP:0002240	Hepatomegaly	3	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0002012	HP:0001744	Splenomegaly	3	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3			60
HP:0002012	HP:0002240	Hepatomegaly	3	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3			60
HP:0002012	HP:0001080	Biliary tract abnormality	3	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome			5
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome	HP:0040284 - Very rare		5
HP:0002012	HP:0001396	Cholestasis	3	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0002012	HP:0001744	Splenomegaly	3	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0002012	HP:0001744	Splenomegaly	3	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0002012	HP:0002240	Hepatomegaly	3	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0002012	HP:0002240	Hepatomegaly	3	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0002012	HP:0001396	Cholestasis	3	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0002012	HP:0001744	Splenomegaly	3	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0002012	HP:0002240	Hepatomegaly	3	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0002012	HP:0001395	Hepatic fibrosis	3	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002012	HP:0001733	Pancreatitis	3	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002012	HP:0001744	Splenomegaly	3	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002012	HP:0002240	Hepatomegaly	3	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002012	HP:0031137	Storage in hepatocytes	3	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002012	HP:0009799	Supernumerary spleens	3	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0002012	HP:0001395	Hepatic fibrosis	3	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome			109
HP:0002012	HP:0001737	Pancreatic cysts	3	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		109
HP:0002012	HP:0100732	Pancreatic fibrosis	3	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		109
HP:0002012	HP:0006706	Cystic liver disease	3	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		109
HP:0002012	HP:0009799	Supernumerary spleens	3	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome			109
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome			109
HP:0002012	HP:0006580	Portal fibrosis	3	RPGRIP1L CL E G H	23322	29168	OMIM:619113	COACH SYNDROME 3; COACH3			167
HP:0002012	HP:0001080	Biliary tract abnormality	3	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0002012	HP:0001394	Cirrhosis	3	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		167
HP:0002012	HP:0001395	Hepatic fibrosis	3	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0002012	HP:0001744	Splenomegaly	3	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		167
HP:0002012	HP:0002240	Hepatomegaly	3	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		167
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0002012	HP:0001395	Hepatic fibrosis	3	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome			167
HP:0002012	HP:0001737	Pancreatic cysts	3	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		167
HP:0002012	HP:0100732	Pancreatic fibrosis	3	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		167
HP:0002012	HP:0006706	Cystic liver disease	3	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		167
HP:0002012	HP:0009799	Supernumerary spleens	3	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome			167
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome			167
HP:0002012	HP:0001080	Biliary tract abnormality	3	RPGRIP1L CL E G H	23322	29168	OMIM:611561	Meckel syndrome, type 5			167
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		1
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		1
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	RPSA CL E G H	3921	6502	OMIM:271400	Asplenia, isolated congenital			9
HP:0002012	HP:0002240	Hepatomegaly	3	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0002012	HP:0002240	Hepatomegaly	3	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		1
HP:0002012	HP:0001744	Splenomegaly	3	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0002012	HP:0001394	Cirrhosis	3	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional		125
HP:0002012	HP:0031137	Storage in hepatocytes	3	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0002012	HP:0009799	Supernumerary spleens	3	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0002012	HP:0009799	Supernumerary spleens	3	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0002012	HP:0009799	Supernumerary spleens	3	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0002012	HP:0009799	Supernumerary spleens	3	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0002012	HP:0001394	Cirrhosis	3	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		77
HP:0002012	HP:0001744	Splenomegaly	3	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		77
HP:0002012	HP:0002240	Hepatomegaly	3	RTEL1 CL E G H	51750	15888	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		77
HP:0002012	HP:0001744	Splenomegaly	3	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0002012	HP:0002240	Hepatomegaly	3	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0002012	HP:0002884	Hepatoblastoma	3	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0002012	HP:0001744	Splenomegaly	3	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis			181
HP:0002012	HP:0001971	Hypersplenism	3	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional		181
HP:0002012	HP:0002240	Hepatomegaly	3	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis			181
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis			181
HP:0002012	HP:0001744	Splenomegaly	3	RUNX1 CL E G H	861	10471	ORPHA:521	Chronic myeloid leukemia	HP:0040282 - Frequent		181
HP:0002012	HP:0001396	Cholestasis	3	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis	HP:0040282 - Frequent		2
HP:0002012	HP:0002240	Hepatomegaly	3	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis	HP:0040282 - Frequent		2
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome			8
HP:0002012	HP:0001744	Splenomegaly	3	SAMD9L CL E G H	219285	1349	ORPHA:2585	Ataxia-pancytopenia syndrome	HP:0040282 - Frequent		4
HP:0002012	HP:0001396	Cholestasis	3	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0002012	HP:0001744	Splenomegaly	3	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0002012	HP:0002240	Hepatomegaly	3	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0002012	HP:0031137	Storage in hepatocytes	3	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease			8
HP:0002012	HP:0002240	Hepatomegaly	3	SASH3 CL E G H	54440	15975	OMIM:301082				1
HP:0002012	HP:0011954	Nodular regenerative hyperplasia of liver	3	SASH3 CL E G H	54440	15975	OMIM:301082				1
HP:0002012	HP:0002240	Hepatomegaly	3	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare		26
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome			26
HP:0002012	HP:0012094	Abnormal pancreas size	3	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome			26
HP:0002012	HP:0002240	Hepatomegaly	3	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.		26
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1			26
HP:0002012	HP:0001396	Cholestasis	3	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis			80
HP:0002012	HP:0001396	Cholestasis	3	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0002012	HP:0001406	Intrahepatic cholestasis	3	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0002012	HP:0001406	Intrahepatic cholestasis	3	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent		80
HP:0002012	HP:0001744	Splenomegaly	3	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0002012	HP:0002240	Hepatomegaly	3	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent		80
HP:0002012	HP:0002240	Hepatomegaly	3	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0002012	HP:0001395	Hepatic fibrosis	3	SCAPER CL E G H	49855	13081	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001080	Biliary tract abnormality	3	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1			77
HP:0002012	HP:0001394	Cirrhosis	3	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional		77
HP:0002012	HP:0001744	Splenomegaly	3	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent		77
HP:0002012	HP:0001971	Hypersplenism	3	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent		77
HP:0002012	HP:0002240	Hepatomegaly	3	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040281 - Very frequent		77
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			67
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			61
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			57
HP:0002012	HP:0002240	Hepatomegaly	3	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0002012	HP:0031137	Storage in hepatocytes	3	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0002012	HP:0002240	Hepatomegaly	3	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0002012	HP:0001395	Hepatic fibrosis	3	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:0002012	HP:0001744	Splenomegaly	3	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome			5
HP:0002012	HP:0002240	Hepatomegaly	3	SCYL1 CL E G H	57410	14372	ORPHA:466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome			5
HP:0002012	HP:0001395	Hepatic fibrosis	3	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21	.		5
HP:0002012	HP:0001744	Splenomegaly	3	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21	.		5
HP:0002012	HP:0002240	Hepatomegaly	3	SCYL1 CL E G H	57410	14372	OMIM:616719	Spinocerebellar ataxia, autosomal recessive 21	.		5
HP:0002012	HP:0001395	Hepatic fibrosis	3	SDCCAG8 CL E G H	10806	10671	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		61
HP:0002012	HP:0001395	Hepatic fibrosis	3	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome			61
HP:0002012	HP:0500030	Abnormal hepatic glycogen storage	3	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0002012	HP:0002605	Hepatic necrosis	3	SDHD CL E G H	6392	10683	ORPHA:100093	Carcinoid syndrome	HP:0040284 - Very rare		129
HP:0002012	HP:0002240	Hepatomegaly	3	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0002012	HP:0001396	Cholestasis	3	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II			60
HP:0002012	HP:0001744	Splenomegaly	3	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II	.		60
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II			60
HP:0002012	HP:0001744	Splenomegaly	3	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0002012	HP:0002240	Hepatomegaly	3	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease	HP:0040281 - Very frequent		137
HP:0002012	HP:0006706	Cystic liver disease	3	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease			137
HP:0002012	HP:0002240	Hepatomegaly	3	SEC63 CL E G H	11231	21082	OMIM:617004	Polycystic liver disease 2	.		137
HP:0002012	HP:0006706	Cystic liver disease	3	SEC63 CL E G H	11231	21082	OMIM:617004	Polycystic liver disease 2			137
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		48
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		48
HP:0002012	HP:0001080	Biliary tract abnormality	3	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0002012	HP:0001394	Cirrhosis	3	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent
HP:0002012	HP:0001395	Hepatic fibrosis	3	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent
HP:0002012	HP:0001396	Cholestasis	3	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040281 - Very frequent
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0002012	HP:0001733	Pancreatitis	3	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0002012	HP:0001744	Splenomegaly	3	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent
HP:0002012	HP:0002240	Hepatomegaly	3	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0002012	HP:0012115	Hepatitis	3	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0002012	HP:0001394	Cirrhosis	3	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency	HP:0040283 - Occasional		131
HP:0002012	HP:0001396	Cholestasis	3	SERPINA1 CL E G H	5265	8941	ORPHA:60	Alpha-1-antitrypsin deficiency			131
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency	.		131
HP:0002012	HP:0001744	Splenomegaly	3	SERPINA1 CL E G H	5265	8941	OMIM:613490	Alpha-1-Antitrypsin deficiency			131
HP:0002012	HP:0002240	Hepatomegaly	3	SERPINA1 CL E G H	5265	8941	ORPHA:60	Alpha-1-antitrypsin deficiency	HP:0040282 - Frequent		131
HP:0002012	HP:0012115	Hepatitis	3	SERPINA1 CL E G H	5265	8941	ORPHA:60	Alpha-1-antitrypsin deficiency	HP:0040282 - Frequent		131
HP:0002012	HP:0001394	Cirrhosis	3	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis			131
HP:0002012	HP:0002884	Hepatoblastoma	3	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.		143
HP:0002012	HP:0032075	Splenopancreatic fusion	3	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0002012	HP:0001734	Annular pancreas	3	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional		143
HP:0002012	HP:0002884	Hepatoblastoma	3	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040284 - Very rare		143
HP:0002012	HP:0001396	Cholestasis	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0002012	HP:0001744	Splenomegaly	3	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040283 - Occasional		19
HP:0002012	HP:0002240	Hepatomegaly	3	SF3B1 CL E G H	23451	10768	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040283 - Occasional		19
HP:0002012	HP:0001394	Cirrhosis	3	SFTPA2 CL E G H	729238	10799	OMIM:178500	Pulmonary fibrosis, idiopathic	.		10
HP:0002012	HP:0001394	Cirrhosis	3	SFTPC CL E G H	6440	10802	OMIM:178500	Pulmonary fibrosis, idiopathic	.		33
HP:0002012	HP:0001744	Splenomegaly	3	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA	.		97
HP:0002012	HP:0002240	Hepatomegaly	3	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA	.		97
HP:0002012	HP:0001744	Splenomegaly	3	SH2B3 CL E G H	10019	29605	OMIM:133100	Erythrocytosis, familial, 1	.		4
HP:0002012	HP:0001744	Splenomegaly	3	SH2B3 CL E G H	10019	29605	ORPHA:3318	Essential thrombocythemia	HP:0040282 - Frequent		4
HP:0002012	HP:0001744	Splenomegaly	3	SH2B3 CL E G H	10019	29605	OMIM:254450	Myelofibrosismyelofibrosis with myeloid metaplasia, included			4
HP:0002012	HP:0001744	Splenomegaly	3	SH2B3 CL E G H	10019	29605	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1			4
HP:0002012	HP:0001744	Splenomegaly	3	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1			37
HP:0002012	HP:0002240	Hepatomegaly	3	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1			37
HP:0002012	HP:0012115	Hepatitis	3	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1			37
HP:0002012	HP:0001396	Cholestasis	3	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent		2
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency			2
HP:0002012	HP:0012115	Hepatitis	3	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent		2
HP:0002012	HP:0001734	Annular pancreas	3	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type	.
HP:0002012	HP:0001734	Annular pancreas	3	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0002012	HP:0031137	Storage in hepatocytes	3	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0002012	HP:0001394	Cirrhosis	3	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0002012	HP:0001395	Hepatic fibrosis	3	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0002012	HP:0001744	Splenomegaly	3	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0002012	HP:0002240	Hepatomegaly	3	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0002012	HP:0002884	Hepatoblastoma	3	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0002012	HP:0001394	Cirrhosis	3	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2	.
HP:0002012	HP:0002240	Hepatomegaly	3	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2	.
HP:0002012	HP:0012115	Hepatitis	3	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2	.
HP:0002012	HP:0001394	Cirrhosis	3	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0002012	HP:0001395	Hepatic fibrosis	3	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0002012	HP:0001744	Splenomegaly	3	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0002012	HP:0002240	Hepatomegaly	3	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040282 - Frequent
HP:0002012	HP:0002884	Hepatoblastoma	3	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0002012	HP:0001394	Cirrhosis	3	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0002012	HP:0001395	Hepatic fibrosis	3	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0002012	HP:0001396	Cholestasis	3	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0002012	HP:0001744	Splenomegaly	3	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0002012	HP:0002240	Hepatomegaly	3	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0002012	HP:0001396	Cholestasis	3	SLC10A1 CL E G H	6554	10905	OMIM:619256	HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2
HP:0002012	HP:0001394	Cirrhosis	3	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis			2
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	SLC16A1 CL E G H	6566	10922	OMIM:610021	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7			74
HP:0002012	HP:0001396	Cholestasis	3	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0002012	HP:0001744	Splenomegaly	3	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease	.		78
HP:0002012	HP:0002240	Hepatomegaly	3	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease	.		78
HP:0002012	HP:0002240	Hepatomegaly	3	SLC20A2 CL E G H	6575	10947	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent		70
HP:0002012	HP:0002240	Hepatomegaly	3	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.		207
HP:0002012	HP:0045061	Decreased carnitine level in liver	3	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.		207
HP:0002012	HP:0031137	Storage in hepatocytes	3	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary			207
HP:0002012	HP:0002240	Hepatomegaly	3	SLC22A5 CL E G H	6584	10969	ORPHA:158	Systemic primary carnitine deficiency	HP:0040281 - Very frequent		207
HP:0002012	HP:0002240	Hepatomegaly	3	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria	HP:0040283 - Occasional		28
HP:0002012	HP:0001395	Hepatic fibrosis	3	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040283 - Occasional		82
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040283 - Occasional		82
HP:0002012	HP:0001733	Pancreatitis	3	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040283 - Occasional		82
HP:0002012	HP:0002240	Hepatomegaly	3	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040282 - Frequent		82
HP:0002012	HP:0031137	Storage in hepatocytes	3	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II			82
HP:0002012	HP:0033196	Portal inflammation	3	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset			82
HP:0002012	HP:0001395	Hepatic fibrosis	3	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset			82
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset	.		82
HP:0002012	HP:0001733	Pancreatitis	3	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset	.		82
HP:0002012	HP:0030146	Abnormal liver parenchyma morphology	3	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset			82
HP:0002012	HP:0031137	Storage in hepatocytes	3	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset			82
HP:0002012	HP:0001394	Cirrhosis	3	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset	.		82
HP:0002012	HP:0001396	Cholestasis	3	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset			82
HP:0002012	HP:0001406	Intrahepatic cholestasis	3	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset	.		82
HP:0002012	HP:0001396	Cholestasis	3	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040281 - Very frequent		82
HP:0002012	HP:0001744	Splenomegaly	3	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency			82
HP:0002012	HP:0002240	Hepatomegaly	3	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040282 - Frequent		82
HP:0002012	HP:0031137	Storage in hepatocytes	3	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency			82
HP:0002012	HP:0002240	Hepatomegaly	3	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent		88
HP:0002012	HP:0002240	Hepatomegaly	3	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.		88
HP:0002012	HP:0012115	Hepatitis	3	SLC25A15 CL E G H	10166	10985	ORPHA:415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	HP:0040282 - Frequent		88
HP:0002012	HP:0012115	Hepatitis	3	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome			88
HP:0002012	HP:0002240	Hepatomegaly	3	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly	HP:0040283 - Occasional		36
HP:0002012	HP:0002240	Hepatomegaly	3	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type	.		36
HP:0002012	HP:0002240	Hepatomegaly	3	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040281 - Very frequent		40
HP:0002012	HP:0002240	Hepatomegaly	3	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency			40
HP:0002012	HP:0031137	Storage in hepatocytes	3	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency			40
HP:0002012	HP:0001396	Cholestasis	3	SLC26A4 CL E G H	5172	8818	ORPHA:95720	Thyroid hypoplasia			274
HP:0002012	HP:0001394	Cirrhosis	3	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis			5
HP:0002012	HP:0001744	Splenomegaly	3	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0002012	HP:0002240	Hepatomegaly	3	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0002012	HP:0001744	Splenomegaly	3	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0002012	HP:0002240	Hepatomegaly	3	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0002012	HP:0012094	Abnormal pancreas size	3	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0002012	HP:0001744	Splenomegaly	3	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2			255
HP:0002012	HP:0001396	Cholestasis	3	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0002012	HP:0001744	Splenomegaly	3	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0002012	HP:0002240	Hepatomegaly	3	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0002012	HP:0001396	Cholestasis	3	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects			255
HP:0002012	HP:0001744	Splenomegaly	3	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects	.		255
HP:0002012	HP:0002240	Hepatomegaly	3	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects	.		255
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040284 - Very rare		71
HP:0002012	HP:0002240	Hepatomegaly	3	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040282 - Frequent		71
HP:0002012	HP:0500030	Abnormal hepatic glycogen storage	3	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040281 - Very frequent		71
HP:0002012	HP:0001394	Cirrhosis	3	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome			42
HP:0002012	HP:0001396	Cholestasis	3	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome			42
HP:0002012	HP:0001744	Splenomegaly	3	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040282 - Frequent		42
HP:0002012	HP:0002240	Hepatomegaly	3	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040282 - Frequent		42
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome			42
HP:0002012	HP:0001394	Cirrhosis	3	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1			42
HP:0002012	HP:0002240	Hepatomegaly	3	SLC30A10 CL E G H	55532	25355	OMIM:613280	Hypermanganesemia with dystonia 1			42
HP:0002012	HP:0002240	Hepatomegaly	3	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040283 - Occasional		7
HP:0002012	HP:0002240	Hepatomegaly	3	SLC35C1 CL E G H	55343	20197	ORPHA:99843	Leukocyte adhesion deficiency type II	HP:0040283 - Occasional		71
HP:0002012	HP:0001080	Biliary tract abnormality	3	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0002012	HP:0001396	Cholestasis	3	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0002012	HP:0001744	Splenomegaly	3	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0002012	HP:0002240	Hepatomegaly	3	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0002012	HP:0031137	Storage in hepatocytes	3	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0002012	HP:0031140	Abnormal liver sonography	3	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040284 - Very rare		110
HP:0002012	HP:0001733	Pancreatitis	3	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040282 - Frequent		110
HP:0002012	HP:0002240	Hepatomegaly	3	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:0002012	HP:0500030	Abnormal hepatic glycogen storage	3	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0002012	HP:0012028	Hepatocellular adenoma	3	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040283 - Occasional		110
HP:0002012	HP:0031137	Storage in hepatocytes	3	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.		110
HP:0002012	HP:0001733	Pancreatitis	3	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.		110
HP:0002012	HP:0001744	Splenomegaly	3	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib			110
HP:0002012	HP:0002240	Hepatomegaly	3	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib	.		110
HP:0002012	HP:0100732	Pancreatic fibrosis	3	SLC37A4 CL E G H	2542	4061	OMIM:232220	Glycogen storage disease ib			110
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.		110
HP:0002012	HP:0001733	Pancreatitis	3	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic			110
HP:0002012	HP:0002240	Hepatomegaly	3	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.		110
HP:0002012	HP:0002884	Hepatoblastoma	3	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.		110
HP:0002012	HP:0002240	Hepatomegaly	3	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0002012	HP:0001744	Splenomegaly	3	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.		55
HP:0002012	HP:0002240	Hepatomegaly	3	SLC39A4 CL E G H	55630	17129	OMIM:201100	Acrodermatitis enteropathica, Zinc-Deficiency type	.		55
HP:0002012	HP:0001394	Cirrhosis	3	SLC40A1 CL E G H	30061	10909	ORPHA:139491	Hemochromatosis type 4	HP:0040283 - Occasional		56
HP:0002012	HP:0001395	Hepatic fibrosis	3	SLC40A1 CL E G H	30061	10909	ORPHA:139491	Hemochromatosis type 4			56
HP:0002012	HP:0031137	Storage in hepatocytes	3	SLC40A1 CL E G H	30061	10909	ORPHA:139491	Hemochromatosis type 4			56
HP:0002012	HP:0001394	Cirrhosis	3	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4			56
HP:0002012	HP:0002240	Hepatomegaly	3	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4			56
HP:0002012	HP:0031137	Storage in hepatocytes	3	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4			56
HP:0002012	HP:0001396	Cholestasis	3	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0002012	HP:0001744	Splenomegaly	3	SLC4A1 CL E G H	6521	11027	OMIM:185020	CRYOHYDROCYTOSIS	.		109
HP:0002012	HP:0001396	Cholestasis	3	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis			109
HP:0002012	HP:0001744	Splenomegaly	3	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent		109
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis			109
HP:0002012	HP:0001396	Cholestasis	3	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis			109
HP:0002012	HP:0001744	Splenomegaly	3	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		109
HP:0002012	HP:0002240	Hepatomegaly	3	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		109
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis			109
HP:0002012	HP:0001744	Splenomegaly	3	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0002012	HP:0002240	Hepatomegaly	3	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia			109
HP:0002012	HP:0001396	Cholestasis	3	SLC4A1 CL E G H	6521	11027	OMIM:612653	Spherocytosis, type 4			109
HP:0002012	HP:0001744	Splenomegaly	3	SLC4A1 CL E G H	6521	11027	OMIM:612653	Spherocytosis, type 4	.		109
HP:0002012	HP:0001395	Hepatic fibrosis	3	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0002012	HP:0001396	Cholestasis	3	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0002012	HP:0001406	Intrahepatic cholestasis	3	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0002012	HP:0001395	Hepatic fibrosis	3	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0002012	HP:0001396	Cholestasis	3	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0002012	HP:0001396	Cholestasis	3	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis			59
HP:0002012	HP:0001394	Cirrhosis	3	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0001394	Cirrhosis	3	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent		104
HP:0002012	HP:0001733	Pancreatitis	3	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.		104
HP:0002012	HP:0001733	Pancreatitis	3	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040283 - Occasional		104
HP:0002012	HP:0001744	Splenomegaly	3	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance			104
HP:0002012	HP:0001744	Splenomegaly	3	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.		104
HP:0002012	HP:0002240	Hepatomegaly	3	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent		104
HP:0002012	HP:0002240	Hepatomegaly	3	SLC7A7 CL E G H	9056	11065	OMIM:222700	Lysinuric protein intolerance	.		104
HP:0002012	HP:0012280	Hepatic amyloidosis	3	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040283 - Occasional		104
HP:0002012	HP:0001394	Cirrhosis	3	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis			7
HP:0002012	HP:0001396	Cholestasis	3	SLCO1B1 CL E G H	10599	10959	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic			52
HP:0002012	HP:0001396	Cholestasis	3	SLCO1B1 CL E G H	10599	10959	ORPHA:3111	Rotor syndrome			52
HP:0002012	HP:0001396	Cholestasis	3	SLCO1B3 CL E G H	28234	10961	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic			60
HP:0002012	HP:0001396	Cholestasis	3	SLCO1B3 CL E G H	28234	10961	ORPHA:3111	Rotor syndrome			60
HP:0002012	HP:0001744	Splenomegaly	3	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional		13
HP:0002012	HP:0002240	Hepatomegaly	3	SLCO2A1 CL E G H	6578	10955	ORPHA:2796	Pachydermoperiostosis	HP:0040283 - Occasional		13
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0002012	HP:0001396	Cholestasis	3	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma			504
HP:0002012	HP:0001744	Splenomegaly	3	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma			504
HP:0002012	HP:0002240	Hepatomegaly	3	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma			504
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040280 - Obligate		504
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma			504
HP:0002012	HP:0001394	Cirrhosis	3	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		504
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia			504
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia			504
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome			504
HP:0002012	HP:0002884	Hepatoblastoma	3	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		617
HP:0002012	HP:0001733	Pancreatitis	3	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040284 - Very rare		74
HP:0002012	HP:0002884	Hepatoblastoma	3	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		87
HP:0002012	HP:0002884	Hepatoblastoma	3	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		1
HP:0002012	HP:0002884	Hepatoblastoma	3	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare
HP:0002012	HP:0002884	Hepatoblastoma	3	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		47
HP:0002012	HP:0001394	Cirrhosis	3	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040284 - Very rare		164
HP:0002012	HP:0001744	Splenomegaly	3	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040282 - Frequent		164
HP:0002012	HP:0001971	Hypersplenism	3	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040282 - Frequent		164
HP:0002012	HP:0002240	Hepatomegaly	3	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040282 - Frequent		164
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B			164
HP:0002012	HP:0001396	Cholestasis	3	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0002012	HP:0001744	Splenomegaly	3	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A	.		164
HP:0002012	HP:0002240	Hepatomegaly	3	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0002012	HP:0001744	Splenomegaly	3	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B	.		164
HP:0002012	HP:0002240	Hepatomegaly	3	SMPD1 CL E G H	6609	11120	OMIM:607616	Niemann-pick disease, type B	.		164
HP:0002012	HP:0001744	Splenomegaly	3	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		2
HP:0002012	HP:0002240	Hepatomegaly	3	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		2
HP:0002012	HP:0001744	Splenomegaly	3	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8	.		2
HP:0002012	HP:0002240	Hepatomegaly	3	SNX10 CL E G H	29887	14974	OMIM:615085	Osteopetrosis, autosomal recessive 8	.		2
HP:0002012	HP:0001744	Splenomegaly	3	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0002012	HP:0002240	Hepatomegaly	3	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0002012	HP:0001744	Splenomegaly	3	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0002012	HP:0002240	Hepatomegaly	3	SNX14 CL E G H	57231	14977	OMIM:616354	Spinocerebellar ataxia, autosomal recessive 20			14
HP:0002012	HP:0001744	Splenomegaly	3	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD			6
HP:0002012	HP:0002240	Hepatomegaly	3	SOCS1 CL E G H	8651	19383	OMIM:619375	AUTOINFLAMMATORY SYNDROME, FAMILIAL, WITH OR WITHOUT IMMUNODEFICIENCY; AISIMD			6
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0002012	HP:0002240	Hepatomegaly	3	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		315
HP:0002012	HP:0002240	Hepatomegaly	3	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		30
HP:0002012	HP:0001744	Splenomegaly	3	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0002012	HP:0002240	Hepatomegaly	3	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0002012	HP:0001744	Splenomegaly	3	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040283 - Occasional		61
HP:0002012	HP:0002240	Hepatomegaly	3	SOX10 CL E G H	6663	11190	ORPHA:163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	HP:0040283 - Occasional		61
HP:0002012	HP:0002884	Hepatoblastoma	3	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare		14
HP:0002012	HP:0002884	Hepatoblastoma	3	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040284 - Very rare
HP:0002012	HP:0001396	Cholestasis	3	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome			49
HP:0002012	HP:0001744	Splenomegaly	3	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome			49
HP:0002012	HP:0002240	Hepatomegaly	3	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040282 - Frequent		49
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome			49
HP:0002012	HP:0009799	Supernumerary spleens	3	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0002012	HP:0009799	Supernumerary spleens	3	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0002012	HP:0001734	Annular pancreas	3	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0002012	HP:0031137	Storage in hepatocytes	3	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0002012	HP:0001080	Biliary tract abnormality	3	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0001394	Cirrhosis	3	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0002012	HP:0001395	Hepatic fibrosis	3	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002012	HP:0001396	Cholestasis	3	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0012115	Hepatitis	3	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0002012	HP:0001396	Cholestasis	3	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis			34
HP:0002012	HP:0001733	Pancreatitis	3	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis			34
HP:0002012	HP:0005213	Pancreatic calcification	3	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional		34
HP:0002012	HP:0001733	Pancreatitis	3	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary	.		34
HP:0002012	HP:0005206	Pancreatic pseudocyst	3	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary	.		34
HP:0002012	HP:0005213	Pancreatic calcification	3	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary	.		34
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary			34
HP:0002012	HP:0001733	Pancreatitis	3	SPINK1 CL E G H	6690	11244	OMIM:608189	Tropical calcific pancreatitis			34
HP:0002012	HP:0005213	Pancreatic calcification	3	SPINK1 CL E G H	6690	11244	OMIM:608189	Tropical calcific pancreatitis			34
HP:0002012	HP:0001396	Cholestasis	3	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0002012	HP:0001733	Pancreatitis	3	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0002012	HP:0005213	Pancreatic calcification	3	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0002012	HP:0030992	Abnormal pancreatic duct morphology	3	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0002012	HP:0001396	Cholestasis	3	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0002012	HP:0002240	Hepatomegaly	3	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	SPRTN CL E G H	83932	25356	OMIM:616200	Ruijs-Aalfs syndrome	.		3
HP:0002012	HP:0001396	Cholestasis	3	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis			228
HP:0002012	HP:0001744	Splenomegaly	3	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		228
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis			228
HP:0002012	HP:0001396	Cholestasis	3	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis			228
HP:0002012	HP:0001744	Splenomegaly	3	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		228
HP:0002012	HP:0002240	Hepatomegaly	3	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		228
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis			228
HP:0002012	HP:0001396	Cholestasis	3	SPTB CL E G H	6710	11274	OMIM:617948	ELLIPTOCYTOSIS 3; EL3			156
HP:0002012	HP:0001396	Cholestasis	3	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis			156
HP:0002012	HP:0001744	Splenomegaly	3	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		156
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis			156
HP:0002012	HP:0001396	Cholestasis	3	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis			156
HP:0002012	HP:0001744	Splenomegaly	3	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		156
HP:0002012	HP:0002240	Hepatomegaly	3	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		156
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis			156
HP:0002012	HP:0001396	Cholestasis	3	SPTB CL E G H	6710	11274	OMIM:616649	SPHEROCYTOSIS, TYPE 2; SPH2			156
HP:0002012	HP:0001744	Splenomegaly	3	SPTB CL E G H	6710	11274	OMIM:616649	SPHEROCYTOSIS, TYPE 2; SPH2			156
HP:0002012	HP:0001396	Cholestasis	3	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002012	HP:0031137	Storage in hepatocytes	3	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0002012	HP:0002240	Hepatomegaly	3	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040284 - Very rare
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0002012	HP:0012094	Abnormal pancreas size	3	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0002012	HP:0002240	Hepatomegaly	3	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0002012	HP:0001744	Splenomegaly	3	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis			1
HP:0002012	HP:0001971	Hypersplenism	3	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional		1
HP:0002012	HP:0002240	Hepatomegaly	3	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis			1
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis			1
HP:0002012	HP:0001744	Splenomegaly	3	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		1
HP:0002012	HP:0002240	Hepatomegaly	3	SRSF2 CL E G H	6427	10783	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		1
HP:0002012	HP:0001744	Splenomegaly	3	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0002012	HP:0002240	Hepatomegaly	3	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0002012	HP:0012115	Hepatitis	3	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional		89
HP:0002012	HP:0001744	Splenomegaly	3	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C			89
HP:0002012	HP:0002240	Hepatomegaly	3	STAT1 CL E G H	6772	11362	OMIM:614162	Immunodeficiency 31C			89
HP:0002012	HP:0001744	Splenomegaly	3	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0002012	HP:0002240	Hepatomegaly	3	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0002012	HP:0012094	Abnormal pancreas size	3	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0002012	HP:0001733	Pancreatitis	3	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0002012	HP:0001744	Splenomegaly	3	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0002012	HP:0001744	Splenomegaly	3	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			2
HP:0002012	HP:0002240	Hepatomegaly	3	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis			2
HP:0002012	HP:0001744	Splenomegaly	3	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2	.		1
HP:0002012	HP:0002240	Hepatomegaly	3	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2	.		1
HP:0002012	HP:0040134	Abnormal hepatic iron concentration	3	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2			1
HP:0002012	HP:0001744	Splenomegaly	3	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts			1
HP:0002012	HP:0002240	Hepatomegaly	3	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts			1
HP:0002012	HP:0040134	Abnormal hepatic iron concentration	3	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts			1
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome			31
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	STIM1 CL E G H	6786	11386	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome			31
HP:0002012	HP:0001080	Biliary tract abnormality	3	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome			740
HP:0002012	HP:0001080	Biliary tract abnormality	3	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome	.		740
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040283 - Occasional		740
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040283 - Occasional		740
HP:0002012	HP:0009799	Supernumerary spleens	3	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2			2
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia	HP:0040283 - Occasional		2
HP:0002012	HP:0001734	Annular pancreas	3	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional		71
HP:0002012	HP:0012094	Abnormal pancreas size	3	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome			71
HP:0002012	HP:0020186	Multilobulated spleen	3	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.		71
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0002012	HP:0001733	Pancreatitis	3	STUB1 CL E G H	10273	11427	ORPHA:412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	HP:0040284 - Very rare		14
HP:0002012	HP:0001396	Cholestasis	3	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			85
HP:0002012	HP:0001744	Splenomegaly	3	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent		85
HP:0002012	HP:0002240	Hepatomegaly	3	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent		85
HP:0002012	HP:0001396	Cholestasis	3	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4			85
HP:0002012	HP:0001744	Splenomegaly	3	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4			85
HP:0002012	HP:0002240	Hepatomegaly	3	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4			85
HP:0002012	HP:0001394	Cirrhosis	3	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0002012	HP:0001396	Cholestasis	3	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			70
HP:0002012	HP:0001744	Splenomegaly	3	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent		70
HP:0002012	HP:0002240	Hepatomegaly	3	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent		70
HP:0002012	HP:0001744	Splenomegaly	3	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5			70
HP:0002012	HP:0002240	Hepatomegaly	3	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5			70
HP:0002012	HP:0002240	Hepatomegaly	3	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040282 - Frequent		60
HP:0002012	HP:0031137	Storage in hepatocytes	3	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0002012	HP:0001744	Splenomegaly	3	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.		80
HP:0002012	HP:0001744	Splenomegaly	3	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040281 - Very frequent		80
HP:0002012	HP:0002240	Hepatomegaly	3	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.		80
HP:0002012	HP:0002240	Hepatomegaly	3	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040281 - Very frequent		80
HP:0002012	HP:0001080	Biliary tract abnormality	3	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0002012	HP:0002240	Hepatomegaly	3	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.		73
HP:0002012	HP:0031137	Storage in hepatocytes	3	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0002012	HP:0001744	Splenomegaly	3	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0002012	HP:0012115	Hepatitis	3	SYK CL E G H	6850	11491	OMIM:619381	IMMUNODEFICIENCY 82 WITH SYSTEMIC INFLAMMATION; IMD82			1
HP:0002012	HP:0001394	Cirrhosis	3	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0002012	HP:0001394	Cirrhosis	3	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency	HP:0040281 - Very frequent		34
HP:0002012	HP:0001395	Hepatic fibrosis	3	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.	HP:0003577 - Congenital onset	34
HP:0002012	HP:0001744	Splenomegaly	3	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.		34
HP:0002012	HP:0001744	Splenomegaly	3	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency			34
HP:0002012	HP:0002240	Hepatomegaly	3	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.		34
HP:0002012	HP:0002240	Hepatomegaly	3	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency			34
HP:0002012	HP:0031137	Storage in hepatocytes	3	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21			28
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0002012	HP:0001744	Splenomegaly	3	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0002012	HP:0001744	Splenomegaly	3	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0002012	HP:0031137	Storage in hepatocytes	3	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0002012	HP:0001396	Cholestasis	3	TBX19 CL E G H	9095	11596	OMIM:201400	Acth deficiency, isolated	.		57
HP:0002012	HP:0001396	Cholestasis	3	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency			57
HP:0002012	HP:0012115	Hepatitis	3	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency	HP:0040283 - Occasional		57
HP:0002012	HP:0001744	Splenomegaly	3	TBXAS1 CL E G H	6916	11609	ORPHA:1802	Ghosal hematodiaphyseal dysplasia	HP:0040283 - Occasional		16
HP:0002012	HP:0001744	Splenomegaly	3	TCF3 CL E G H	6929	11633	OMIM:619824	AGAMMAGLOBULINEMIA 8B, AUTOSOMAL RECESSIVE; AGM8B			2
HP:0002012	HP:0012115	Hepatitis	3	TCF3 CL E G H	6929	11633	ORPHA:33110	Autosomal agammaglobulinemia	HP:0040283 - Occasional		2
HP:0002012	HP:0001080	Biliary tract abnormality	3	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0002012	HP:0001394	Cirrhosis	3	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		241
HP:0002012	HP:0001395	Hepatic fibrosis	3	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		241
HP:0002012	HP:0001396	Cholestasis	3	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040281 - Very frequent		241
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		241
HP:0002012	HP:0001733	Pancreatitis	3	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		241
HP:0002012	HP:0001744	Splenomegaly	3	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		241
HP:0002012	HP:0002240	Hepatomegaly	3	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		241
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0002012	HP:0012115	Hepatitis	3	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		241
HP:0002012	HP:0001744	Splenomegaly	3	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		82
HP:0002012	HP:0002240	Hepatomegaly	3	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		82
HP:0002012	HP:0001744	Splenomegaly	3	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis			82
HP:0002012	HP:0002240	Hepatomegaly	3	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis			82
HP:0002012	HP:0001744	Splenomegaly	3	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0002012	HP:0002240	Hepatomegaly	3	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0002012	HP:0001395	Hepatic fibrosis	3	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome			45
HP:0002012	HP:0001737	Pancreatic cysts	3	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		45
HP:0002012	HP:0100732	Pancreatic fibrosis	3	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		45
HP:0002012	HP:0006706	Cystic liver disease	3	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		45
HP:0002012	HP:0009799	Supernumerary spleens	3	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome			45
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome			45
HP:0002012	HP:0001395	Hepatic fibrosis	3	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome			76
HP:0002012	HP:0001737	Pancreatic cysts	3	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		76
HP:0002012	HP:0100732	Pancreatic fibrosis	3	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		76
HP:0002012	HP:0006706	Cystic liver disease	3	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		76
HP:0002012	HP:0009799	Supernumerary spleens	3	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome			76
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome			76
HP:0002012	HP:0001080	Biliary tract abnormality	3	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18			31
HP:0002012	HP:0001395	Hepatic fibrosis	3	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome			31
HP:0002012	HP:0001737	Pancreatic cysts	3	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		31
HP:0002012	HP:0100732	Pancreatic fibrosis	3	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		31
HP:0002012	HP:0006706	Cystic liver disease	3	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		31
HP:0002012	HP:0009799	Supernumerary spleens	3	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome			31
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome			31
HP:0002012	HP:0001734	Annular pancreas	3	TELO2 CL E G H	9894	29099	ORPHA:488642	TELO2-related intellectual disability-neurodevelopmental disorder	HP:0040283 - Occasional		12
HP:0002012	HP:0001394	Cirrhosis	3	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		48
HP:0002012	HP:0001744	Splenomegaly	3	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		48
HP:0002012	HP:0002240	Hepatomegaly	3	TERC CL E G H	7012	11727	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		48
HP:0002012	HP:0001394	Cirrhosis	3	TERC CL E G H	7012	11727	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		48
HP:0002012	HP:0001394	Cirrhosis	3	TERC CL E G H	7012	11727	OMIM:614743	Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2	HP:0040283 - Occasional		48
HP:0002012	HP:0001394	Cirrhosis	3	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		238
HP:0002012	HP:0001744	Splenomegaly	3	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		238
HP:0002012	HP:0002240	Hepatomegaly	3	TERT CL E G H	7015	11730	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		238
HP:0002012	HP:0001395	Hepatic fibrosis	3	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2			238
HP:0002012	HP:0001394	Cirrhosis	3	TERT CL E G H	7015	11730	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		238
HP:0002012	HP:0001394	Cirrhosis	3	TERT CL E G H	7015	11730	OMIM:614742	PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1			238
HP:0002012	HP:0001394	Cirrhosis	3	TERT CL E G H	7015	11730	OMIM:178500	Pulmonary fibrosis, idiopathic	.		238
HP:0002012	HP:0001744	Splenomegaly	3	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040283 - Occasional		3
HP:0002012	HP:0002240	Hepatomegaly	3	TET2 CL E G H	54790	25941	ORPHA:75564	Acquired idiopathic sideroblastic anemia	HP:0040283 - Occasional		3
HP:0002012	HP:0001744	Splenomegaly	3	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis			3
HP:0002012	HP:0001971	Hypersplenism	3	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional		3
HP:0002012	HP:0002240	Hepatomegaly	3	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis			3
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis			3
HP:0002012	HP:0001744	Splenomegaly	3	TET2 CL E G H	54790	25941	ORPHA:3318	Essential thrombocythemia	HP:0040282 - Frequent		3
HP:0002012	HP:0001744	Splenomegaly	3	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75			3
HP:0002012	HP:0002240	Hepatomegaly	3	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75			3
HP:0002012	HP:0001744	Splenomegaly	3	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent		3
HP:0002012	HP:0002240	Hepatomegaly	3	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040281 - Very frequent		3
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera			3
HP:0002012	HP:0001744	Splenomegaly	3	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		3
HP:0002012	HP:0002240	Hepatomegaly	3	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		3
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis			3
HP:0002012	HP:0001744	Splenomegaly	3	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		3
HP:0002012	HP:0002240	Hepatomegaly	3	TET2 CL E G H	54790	25941	ORPHA:98849	Systemic mastocytosis with associated hematologic neoplasm	HP:0040283 - Occasional		3
HP:0002012	HP:0001394	Cirrhosis	3	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	.		1
HP:0002012	HP:0001396	Cholestasis	3	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	.		1
HP:0002012	HP:0031137	Storage in hepatocytes	3	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)			1
HP:0002012	HP:0001744	Splenomegaly	3	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0002012	HP:0002240	Hepatomegaly	3	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0002012	HP:0001394	Cirrhosis	3	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3			67
HP:0002012	HP:0001396	Cholestasis	3	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis			155
HP:0002012	HP:0001744	Splenomegaly	3	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional		13
HP:0002012	HP:0002240	Hepatomegaly	3	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional		13
HP:0002012	HP:0001080	Biliary tract abnormality	3	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0002012	HP:0001394	Cirrhosis	3	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0002012	HP:0001394	Cirrhosis	3	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0002012	HP:0001733	Pancreatitis	3	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0002012	HP:0001744	Splenomegaly	3	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0002012	HP:0002240	Hepatomegaly	3	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis			13
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		253
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		253
HP:0002012	HP:0001744	Splenomegaly	3	THPO CL E G H	7066	11795	ORPHA:71493	Familial thrombocytosis	HP:0040282 - Frequent		23
HP:0002012	HP:0001744	Splenomegaly	3	THPO CL E G H	7066	11795	OMIM:187950	THROMBOCYTHEMIA 1; THCYT1			23
HP:0002012	HP:0002240	Hepatomegaly	3	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0002012	HP:0001394	Cirrhosis	3	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		60
HP:0002012	HP:0001744	Splenomegaly	3	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		60
HP:0002012	HP:0002240	Hepatomegaly	3	TINF2 CL E G H	26277	11824	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		60
HP:0002012	HP:0001394	Cirrhosis	3	TINF2 CL E G H	26277	11824	OMIM:127550	Dyskeratosis congenita, autosomal dominant, 1	.		60
HP:0002012	HP:0001394	Cirrhosis	3	TJP2 CL E G H	9414	11828	OMIM:615878	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4			149
HP:0002012	HP:0001396	Cholestasis	3	TJP2 CL E G H	9414	11828	OMIM:615878	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4			149
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	TJP2 CL E G H	9414	11828	OMIM:615878	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4			149
HP:0002012	HP:0001406	Intrahepatic cholestasis	3	TJP2 CL E G H	9414	11828	OMIM:615878	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4			149
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	TJP2 CL E G H	9414	11828	OMIM:615878	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4			149
HP:0002012	HP:0001733	Pancreatitis	3	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0002012	HP:0002240	Hepatomegaly	3	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0002012	HP:0031137	Storage in hepatocytes	3	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0002012	HP:0002240	Hepatomegaly	3	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040283 - Occasional		4
HP:0002012	HP:0001733	Pancreatitis	3	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional		3
HP:0002012	HP:0001744	Splenomegaly	3	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional		3
HP:0002012	HP:0001744	Splenomegaly	3	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0002012	HP:0002240	Hepatomegaly	3	TLR8 CL E G H	51311	15632	OMIM:301078	IMMUNODEFICIENCY 98 WITH AUTOINFLAMMATION, X-LINKED; IMD98
HP:0002012	HP:0001395	Hepatic fibrosis	3	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome			4
HP:0002012	HP:0001737	Pancreatic cysts	3	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		4
HP:0002012	HP:0100732	Pancreatic fibrosis	3	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		4
HP:0002012	HP:0006706	Cystic liver disease	3	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		4
HP:0002012	HP:0009799	Supernumerary spleens	3	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome			4
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome			4
HP:0002012	HP:0002240	Hepatomegaly	3	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		4
HP:0002012	HP:0002240	Hepatomegaly	3	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	.		24
HP:0002012	HP:0031137	Storage in hepatocytes	3	TMEM199 CL E G H	147007	18085	OMIM:616829	Congenital disorder of glycosylation, type IIP			4
HP:0002012	HP:0001395	Hepatic fibrosis	3	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome			45
HP:0002012	HP:0001737	Pancreatic cysts	3	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		45
HP:0002012	HP:0100732	Pancreatic fibrosis	3	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		45
HP:0002012	HP:0006706	Cystic liver disease	3	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		45
HP:0002012	HP:0009799	Supernumerary spleens	3	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome			45
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome			45
HP:0002012	HP:0001080	Biliary tract abnormality	3	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2			45
HP:0002012	HP:0001395	Hepatic fibrosis	3	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome			33
HP:0002012	HP:0001737	Pancreatic cysts	3	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		33
HP:0002012	HP:0100732	Pancreatic fibrosis	3	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		33
HP:0002012	HP:0006706	Cystic liver disease	3	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		33
HP:0002012	HP:0009799	Supernumerary spleens	3	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome			33
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome			33
HP:0002012	HP:0001395	Hepatic fibrosis	3	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome			82
HP:0002012	HP:0001737	Pancreatic cysts	3	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		82
HP:0002012	HP:0100732	Pancreatic fibrosis	3	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		82
HP:0002012	HP:0006706	Cystic liver disease	3	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		82
HP:0002012	HP:0009799	Supernumerary spleens	3	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome			82
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome			82
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0002012	HP:0001080	Biliary tract abnormality	3	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0002012	HP:0001394	Cirrhosis	3	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1	.		166
HP:0002012	HP:0001395	Hepatic fibrosis	3	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0002012	HP:0001744	Splenomegaly	3	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1	.		166
HP:0002012	HP:0002240	Hepatomegaly	3	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0002012	HP:0001080	Biliary tract abnormality	3	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6			166
HP:0002012	HP:0001395	Hepatic fibrosis	3	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.		166
HP:0002012	HP:0001080	Biliary tract abnormality	3	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0002012	HP:0001394	Cirrhosis	3	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		166
HP:0002012	HP:0001395	Hepatic fibrosis	3	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0002012	HP:0001744	Splenomegaly	3	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		166
HP:0002012	HP:0002240	Hepatomegaly	3	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		166
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0002012	HP:0001395	Hepatic fibrosis	3	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome			166
HP:0002012	HP:0001737	Pancreatic cysts	3	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		166
HP:0002012	HP:0100732	Pancreatic fibrosis	3	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		166
HP:0002012	HP:0006706	Cystic liver disease	3	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		166
HP:0002012	HP:0009799	Supernumerary spleens	3	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome			166
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome			166
HP:0002012	HP:0001080	Biliary tract abnormality	3	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3			166
HP:0002012	HP:0001395	Hepatic fibrosis	3	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3	.		166
HP:0002012	HP:0002240	Hepatomegaly	3	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3			166
HP:0002012	HP:0006563	Malformation of the hepatic ductal plate	3	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3			166
HP:0002012	HP:0001395	Hepatic fibrosis	3	TMEM67 CL E G H	91147	28396	OMIM:613550	NEPHRONOPHTHISIS 11; NPHP11			166
HP:0002012	HP:0001080	Biliary tract abnormality	3	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0002012	HP:0001394	Cirrhosis	3	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0002012	HP:0001395	Hepatic fibrosis	3	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0002012	HP:0001396	Cholestasis	3	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0002012	HP:0001744	Splenomegaly	3	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0002012	HP:0002240	Hepatomegaly	3	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0002012	HP:0006563	Malformation of the hepatic ductal plate	3	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0002012	HP:0002240	Hepatomegaly	3	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040282 - Frequent		63
HP:0002012	HP:0001396	Cholestasis	3	TMPRSS6 CL E G H	164656	16517	ORPHA:209981	IRIDA syndrome			65
HP:0002012	HP:0001406	Intrahepatic cholestasis	3	TMPRSS6 CL E G H	164656	16517	ORPHA:209981	IRIDA syndrome	HP:0040282 - Frequent		65
HP:0002012	HP:0001744	Splenomegaly	3	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0002012	HP:0002240	Hepatomegaly	3	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0002012	HP:0001744	Splenomegaly	3	TNFRSF13B CL E G H	23495	18153	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		32
HP:0002012	HP:0001744	Splenomegaly	3	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2	.		32
HP:0002012	HP:0002240	Hepatomegaly	3	TNFRSF13B CL E G H	23495	18153	OMIM:240500	Immunodeficiency, common variable, 2	.		32
HP:0002012	HP:0001744	Splenomegaly	3	TNFRSF13C CL E G H	115650	17755	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		12
HP:0002012	HP:0001744	Splenomegaly	3	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2	.		12
HP:0002012	HP:0002240	Hepatomegaly	3	TNFRSF13C CL E G H	115650	17755	OMIM:240500	Immunodeficiency, common variable, 2	.		12
HP:0002012	HP:0002240	Hepatomegaly	3	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant			131
HP:0002012	HP:0012280	Hepatic amyloidosis	3	TNFRSF1A CL E G H	7132	11916	OMIM:142680	Periodic fever, familial, autosomal dominant	.		131
HP:0002012	HP:0001744	Splenomegaly	3	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040282 - Frequent		131
HP:0002012	HP:0001744	Splenomegaly	3	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides	HP:0040283 - Occasional
HP:0002012	HP:0002240	Hepatomegaly	3	TNFRSF1B CL E G H	7133	11917	ORPHA:2584	Classic mycosis fungoides	HP:0040283 - Occasional
HP:0002012	HP:0001744	Splenomegaly	3	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome	HP:0040282 - Frequent
HP:0002012	HP:0002240	Hepatomegaly	3	TNFRSF1B CL E G H	7133	11917	ORPHA:3162	Sézary syndrome	HP:0040282 - Frequent
HP:0002012	HP:0001744	Splenomegaly	3	TNFRSF4 CL E G H	7293	11918	OMIM:615593	Immunodeficiency 16			2
HP:0002012	HP:0001744	Splenomegaly	3	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		44
HP:0002012	HP:0002240	Hepatomegaly	3	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		44
HP:0002012	HP:0001744	Splenomegaly	3	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0002012	HP:0002240	Hepatomegaly	3	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0002012	HP:0001744	Splenomegaly	3	TNFSF12 CL E G H	8742	11927	ORPHA:1572	Common variable immunodeficiency	HP:0040282 - Frequent		1
HP:0002012	HP:0001080	Biliary tract abnormality	3	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0001394	Cirrhosis	3	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0002012	HP:0001395	Hepatic fibrosis	3	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002012	HP:0001396	Cholestasis	3	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0012115	Hepatitis	3	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0002012	HP:0002240	Hepatomegaly	3	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		180
HP:0002012	HP:0002240	Hepatomegaly	3	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		248
HP:0002012	HP:0001080	Biliary tract abnormality	3	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis			71
HP:0002012	HP:0001394	Cirrhosis	3	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent		71
HP:0002012	HP:0001395	Hepatic fibrosis	3	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent		71
HP:0002012	HP:0001396	Cholestasis	3	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis			71
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent		71
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis			71
HP:0002012	HP:0012115	Hepatitis	3	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional		71
HP:0002012	HP:0002240	Hepatomegaly	3	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0002012	HP:0001744	Splenomegaly	3	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0002012	HP:0002240	Hepatomegaly	3	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0002012	HP:0012115	Hepatitis	3	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001744	Splenomegaly	3	TP53 CL E G H	7157	11998	ORPHA:3318	Essential thrombocythemia	HP:0040282 - Frequent		911
HP:0002012	HP:0001396	Cholestasis	3	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma			911
HP:0002012	HP:0001744	Splenomegaly	3	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma			911
HP:0002012	HP:0002240	Hepatomegaly	3	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma			911
HP:0002012	HP:0006725	Pancreatic adenocarcinoma	3	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040280 - Obligate		911
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma			911
HP:0002012	HP:0001394	Cirrhosis	3	TP53 CL E G H	7157	11998	OMIM:114550	Hepatocellular carcinoma			911
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	TP53 CL E G H	7157	11998	OMIM:114550	Hepatocellular carcinoma	.		911
HP:0002012	HP:0012115	Hepatitis	3	TP53 CL E G H	7157	11998	OMIM:114550	Hepatocellular carcinoma			911
HP:0002012	HP:0001396	Cholestasis	3	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0002012	HP:0001744	Splenomegaly	3	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency	.		28
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0002012	HP:0001396	Cholestasis	3	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis			92
HP:0002012	HP:0001744	Splenomegaly	3	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome	HP:0040282 - Frequent
HP:0002012	HP:0012115	Hepatitis	3	TPP2 CL E G H	7174	12016	ORPHA:444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome	HP:0040281 - Very frequent
HP:0002012	HP:0001744	Splenomegaly	3	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0002012	HP:0001395	Hepatic fibrosis	3	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome			6
HP:0002012	HP:0001395	Hepatic fibrosis	3	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9	HP:0040283 - Occasional		6
HP:0002012	HP:0001396	Cholestasis	3	TRAF3IP1 CL E G H	26146	17861	OMIM:616629	Senior-Loken syndrome 9	HP:0040283 - Occasional		6
HP:0002012	HP:0012115	Hepatitis	3	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		4
HP:0002012	HP:0002240	Hepatomegaly	3	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	HP:0040283 - Occasional		27
HP:0002012	HP:0031137	Storage in hepatocytes	3	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18			27
HP:0002012	HP:0002240	Hepatomegaly	3	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18	HP:0040282 - Frequent		27
HP:0002012	HP:0031137	Storage in hepatocytes	3	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18			27
HP:0002012	HP:0001396	Cholestasis	3	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0002012	HP:0001744	Splenomegaly	3	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0002012	HP:0002240	Hepatomegaly	3	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0002012	HP:0001396	Cholestasis	3	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0002012	HP:0001744	Splenomegaly	3	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1	HP:0040283 - Occasional		56
HP:0002012	HP:0002240	Hepatomegaly	3	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040282 - Frequent		56
HP:0002012	HP:0011954	Nodular regenerative hyperplasia of liver	3	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040282 - Frequent		56
HP:0002012	HP:0001394	Cirrhosis	3	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy			56
HP:0002012	HP:0001396	Cholestasis	3	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome			2
HP:0002012	HP:0001395	Hepatic fibrosis	3	TRIM32 CL E G H	22954	16380	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		108
HP:0002012	HP:0002240	Hepatomegaly	3	TRIM37 CL E G H	4591	7523	ORPHA:2576	Mulibrey nanism	HP:0040282 - Frequent		78
HP:0002012	HP:0002240	Hepatomegaly	3	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0002012	HP:0001394	Cirrhosis	3	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26	.		4
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0002012	HP:0001396	Cholestasis	3	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient			101
HP:0002012	HP:0002240	Hepatomegaly	3	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient	.		101
HP:0002012	HP:0031137	Storage in hepatocytes	3	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient			101
HP:0002012	HP:0002240	Hepatomegaly	3	TRMU CL E G H	55687	25481	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040283 - Occasional		101
HP:0002012	HP:0002240	Hepatomegaly	3	TRNE CL E G H	4556	7479	ORPHA:254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	HP:0040283 - Occasional
HP:0002012	HP:0001733	Pancreatitis	3	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0002012	HP:0001733	Pancreatitis	3	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0002012	HP:0002240	Hepatomegaly	3	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001733	Pancreatitis	3	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0002012	HP:0002240	Hepatomegaly	3	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002012	HP:0002240	Hepatomegaly	3	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0002012	HP:0031137	Storage in hepatocytes	3	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0002012	HP:0001733	Pancreatitis	3	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0002012	HP:0001733	Pancreatitis	3	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0002012	HP:0002240	Hepatomegaly	3	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0002012	HP:0031137	Storage in hepatocytes	3	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0002012	HP:0001733	Pancreatitis	3	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0002012	HP:0001744	Splenomegaly	3	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0002012	HP:0002240	Hepatomegaly	3	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001733	Pancreatitis	3	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0002012	HP:0002240	Hepatomegaly	3	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001744	Splenomegaly	3	TRPV6 CL E G H	55503	14006	ORPHA:417	Neonatal severe primary hyperparathyroidism	HP:0040281 - Very frequent		4
HP:0002012	HP:0002240	Hepatomegaly	3	TRPV6 CL E G H	55503	14006	ORPHA:417	Neonatal severe primary hyperparathyroidism	HP:0040281 - Very frequent		4
HP:0002012	HP:0006706	Cystic liver disease	3	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0002012	HP:0006706	Cystic liver disease	3	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0002012	HP:0002240	Hepatomegaly	3	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.		43
HP:0002012	HP:0001396	Cholestasis	3	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency			9
HP:0002012	HP:0001396	Cholestasis	3	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations			97
HP:0002012	HP:0001396	Cholestasis	3	TSHR CL E G H	7253	12373	ORPHA:95720	Thyroid hypoplasia			97
HP:0002012	HP:0009799	Supernumerary spleens	3	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0002012	HP:0006706	Cystic liver disease	3	TTC21B CL E G H	79809	25660	OMIM:613819	Short-Rib thoracic dysplasia 4 with or without polydactyly			132
HP:0002012	HP:0001080	Biliary tract abnormality	3	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002012	HP:0001394	Cirrhosis	3	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002012	HP:0001395	Hepatic fibrosis	3	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002012	HP:0001396	Cholestasis	3	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002012	HP:0001744	Splenomegaly	3	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002012	HP:0002240	Hepatomegaly	3	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002012	HP:0001080	Biliary tract abnormality	3	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0002012	HP:0012115	Hepatitis	3	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare		26
HP:0002012	HP:0012115	Hepatitis	3	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome			26
HP:0002012	HP:0001395	Hepatic fibrosis	3	TTC8 CL E G H	123016	20087	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		41
HP:0002012	HP:0002240	Hepatomegaly	3	TUFM CL E G H	7284	12420	OMIM:610678	Combined oxidative phosphorylation deficiency 4			55
HP:0002012	HP:0001394	Cirrhosis	3	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0002012	HP:0001395	Hepatic fibrosis	3	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0002012	HP:0001396	Cholestasis	3	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0002012	HP:0001744	Splenomegaly	3	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0002012	HP:0001971	Hypersplenism	3	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0002012	HP:0002240	Hepatomegaly	3	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome			18
HP:0002012	HP:0001395	Hepatic fibrosis	3	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0002012	HP:0001395	Hepatic fibrosis	3	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome			2
HP:0002012	HP:0001737	Pancreatic cysts	3	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		2
HP:0002012	HP:0100732	Pancreatic fibrosis	3	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		2
HP:0002012	HP:0006706	Cystic liver disease	3	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		2
HP:0002012	HP:0009799	Supernumerary spleens	3	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome			2
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome			2
HP:0002012	HP:0001394	Cirrhosis	3	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional		138
HP:0002012	HP:0031137	Storage in hepatocytes	3	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0002012	HP:0001394	Cirrhosis	3	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		1
HP:0002012	HP:0001744	Splenomegaly	3	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		1
HP:0002012	HP:0002240	Hepatomegaly	3	TYMS CL E G H	7298	12441	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		1
HP:0002012	HP:0001733	Pancreatitis	3	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002012	HP:0001744	Splenomegaly	3	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0002012	HP:0001734	Annular pancreas	3	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002012	HP:0031137	Storage in hepatocytes	3	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0002012	HP:0001396	Cholestasis	3	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	HP:0040283 - Occasional		25
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome			25
HP:0002012	HP:0002240	Hepatomegaly	3	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040283 - Occasional		15
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency			15
HP:0002012	HP:0001744	Splenomegaly	3	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0002012	HP:0001080	Biliary tract abnormality	3	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1	HP:0040281 - Very frequent		73
HP:0002012	HP:0001396	Cholestasis	3	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1			73
HP:0002012	HP:0001396	Cholestasis	3	UGT1A1 CL E G H	54658	12530	ORPHA:79235	Crigler-Najjar syndrome type 2			73
HP:0002012	HP:0001396	Cholestasis	3	UGT1A1 CL E G H	54658	12530	OMIM:218800	Crigler-Najjar syndrome, type I			73
HP:0002012	HP:0001396	Cholestasis	3	UGT1A1 CL E G H	54658	12530	OMIM:606785	Crigler-najjar syndrome, type II			73
HP:0002012	HP:0001396	Cholestasis	3	UGT1A1 CL E G H	54658	12530	OMIM:237900	Hyperbilirubinemia, familial transient neonatal			73
HP:0002012	HP:0001744	Splenomegaly	3	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria	HP:0040282 - Frequent		135
HP:0002012	HP:0001396	Cholestasis	3	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			116
HP:0002012	HP:0001744	Splenomegaly	3	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent		116
HP:0002012	HP:0002240	Hepatomegaly	3	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent		116
HP:0002012	HP:0001744	Splenomegaly	3	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3			116
HP:0002012	HP:0002240	Hepatomegaly	3	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3			116
HP:0002012	HP:0001395	Hepatic fibrosis	3	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0002012	HP:0001396	Cholestasis	3	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0002012	HP:0006580	Portal fibrosis	3	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0002012	HP:0031137	Storage in hepatocytes	3	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0002012	HP:0002240	Hepatomegaly	3	UQCRB CL E G H	7381	12582	OMIM:615158	Mitochondrial complex III deficiency, nuclear type 3	.		13
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0002012	HP:0001744	Splenomegaly	3	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040283 - Occasional		31
HP:0002012	HP:0001394	Cirrhosis	3	UROD CL E G H	7389	12591	OMIM:176100	Porphyria cutanea tarda	.		31
HP:0002012	HP:0001402	Hepatocellular carcinoma	3	UROD CL E G H	7389	12591	OMIM:176100	Porphyria cutanea tarda	.		31
HP:0002012	HP:0001744	Splenomegaly	3	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		41
HP:0002012	HP:0001744	Splenomegaly	3	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.		41
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0002012	HP:0001394	Cirrhosis	3	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		8
HP:0002012	HP:0001744	Splenomegaly	3	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		8
HP:0002012	HP:0002240	Hepatomegaly	3	USB1 CL E G H	79650	25792	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		8
HP:0002012	HP:0001744	Splenomegaly	3	USB1 CL E G H	79650	25792	OMIM:604173	Poikiloderma with neutropenia			8
HP:0002012	HP:0002240	Hepatomegaly	3	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2	.		2
HP:0002012	HP:0001395	Hepatic fibrosis	3	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0002012	HP:0001396	Cholestasis	3	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0002012	HP:0001744	Splenomegaly	3	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0002012	HP:0001080	Biliary tract abnormality	3	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0002012	HP:0031137	Storage in hepatocytes	3	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			63
HP:0002012	HP:0001737	Pancreatic cysts	3	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		490
HP:0002012	HP:0008261	Pancreatic islet cell adenoma	3	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		490
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0002012	HP:0001737	Pancreatic cysts	3	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome	.		490
HP:0002012	HP:0031207	Hepatic hemangioma	3	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome			490
HP:0002012	HP:0001396	Cholestasis	3	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0002012	HP:0002240	Hepatomegaly	3	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0002012	HP:0012115	Hepatitis	3	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0002012	HP:0001744	Splenomegaly	3	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional		130
HP:0002012	HP:0002240	Hepatomegaly	3	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040283 - Occasional		130
HP:0002012	HP:0001744	Splenomegaly	3	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0002012	HP:0002240	Hepatomegaly	3	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0002012	HP:0001744	Splenomegaly	3	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0002012	HP:0002240	Hepatomegaly	3	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0002012	HP:0031137	Storage in hepatocytes	3	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0002012	HP:0001396	Cholestasis	3	VPS33B CL E G H	26276	12712	OMIM:620010				63
HP:0002012	HP:0001744	Splenomegaly	3	VPS33B CL E G H	26276	12712	OMIM:620010				63
HP:0002012	HP:0002240	Hepatomegaly	3	VPS33B CL E G H	26276	12712	OMIM:620010				63
HP:0002012	HP:0001080	Biliary tract abnormality	3	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0002012	HP:0001396	Cholestasis	3	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0002012	HP:0012115	Hepatitis	3	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0002012	HP:0001744	Splenomegaly	3	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive	.		7
HP:0002012	HP:0002240	Hepatomegaly	3	VPS45 CL E G H	11311	14579	OMIM:615285	Neutropenia, severe congenital, 5, autosomal recessive	.		7
HP:0002012	HP:0002240	Hepatomegaly	3	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0002012	HP:0005264	Abnormality of the gallbladder	3	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0002012	HP:0031137	Storage in hepatocytes	3	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0002012	HP:0001396	Cholestasis	3	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0002012	HP:0001406	Intrahepatic cholestasis	3	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0002012	HP:0001395	Hepatic fibrosis	3	WDPCP CL E G H	51057	28027	ORPHA:110	Bardet-Biedl syndrome	HP:0040283 - Occasional		60
HP:0002012	HP:0001744	Splenomegaly	3	WDR1 CL E G H	9948	12754	OMIM:150550	Periodic fever, immunodeficiency, and thrombocytopenia syndrome
HP:0002012	HP:0001080	Biliary tract abnormality	3	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13			95
HP:0002012	HP:0001737	Pancreatic cysts	3	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13	HP:0040283 - Occasional		95
HP:0002012	HP:0006706	Cystic liver disease	3	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13			95
HP:0002012	HP:0001395	Hepatic fibrosis	3	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome			95
HP:0002012	HP:0001080	Biliary tract abnormality	3	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8			95
HP:0002012	HP:0001737	Pancreatic cysts	3	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8	.		95
HP:0002012	HP:0006706	Cystic liver disease	3	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8			95
HP:0002012	HP:0002240	Hepatomegaly	3	WDR19 CL E G H	57728	18340	OMIM:614376	Short-Rib thoracic dysplasia 5 with or without polydactyly			95
HP:0002012	HP:0001080	Biliary tract abnormality	3	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0002012	HP:0001396	Cholestasis	3	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0002012	HP:0001744	Splenomegaly	3	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0002012	HP:0002240	Hepatomegaly	3	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0002012	HP:0006580	Portal fibrosis	3	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0002012	HP:0009799	Supernumerary spleens	3	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0002012	HP:0001395	Hepatic fibrosis	3	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			136
HP:0002012	HP:0001395	Hepatic fibrosis	3	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly	.		136
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive			12
HP:0002012	HP:0001394	Cirrhosis	3	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		40
HP:0002012	HP:0001744	Splenomegaly	3	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		40
HP:0002012	HP:0002240	Hepatomegaly	3	WRAP53 CL E G H	55135	25522	ORPHA:1775	Dyskeratosis congenita	HP:0040283 - Occasional		40
HP:0002012	HP:0002240	Hepatomegaly	3	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040282 - Frequent		177
HP:0002012	HP:0009799	Supernumerary spleens	3	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0002012	HP:0001744	Splenomegaly	3	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1			81
HP:0002012	HP:0002240	Hepatomegaly	3	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1			81
HP:0002012	HP:0012115	Hepatitis	3	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1			81
HP:0002012	HP:0001744	Splenomegaly	3	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2			81
HP:0002012	HP:0002240	Hepatomegaly	3	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2	.		81
HP:0002012	HP:0012115	Hepatitis	3	XIAP CL E G H	331	592	OMIM:300635	Lymphoproliferative syndrome, X-linked, 2			81
HP:0002012	HP:0001744	Splenomegaly	3	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome			8
HP:0002012	HP:0002240	Hepatomegaly	3	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome			8
HP:0002012	HP:0001733	Pancreatitis	3	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1			109
HP:0002012	HP:0001737	Pancreatic cysts	3	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1	HP:0040283 - Occasional		109
HP:0002012	HP:0002240	Hepatomegaly	3	XPR1 CL E G H	9213	12827	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent		4
HP:0002012	HP:0002240	Hepatomegaly	3	XRCC4 CL E G H	7518	12831	ORPHA:99812	LIG4 syndrome	HP:0040283 - Occasional		9
HP:0002012	HP:0031137	Storage in hepatocytes	3	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			9
HP:0002012	HP:0002240	Hepatomegaly	3	XYLT1 CL E G H	64131	15516	ORPHA:370930	XYLT1-CDG	HP:0040282 - Frequent		14
HP:0002012	HP:0001394	Cirrhosis	3	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002012	HP:0001396	Cholestasis	3	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002012	HP:0001744	Splenomegaly	3	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002012	HP:0002240	Hepatomegaly	3	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002012	HP:0009799	Supernumerary spleens	3	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002012	HP:0012092	Abnormality of exocrine pancreas physiology	3	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002012	HP:0031137	Storage in hepatocytes	3	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002012	HP:0002240	Hepatomegaly	3	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	HP:0040283 - Occasional		45
HP:0002012	HP:0012093	Abnormality of endocrine pancreas physiology	3	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma			7
HP:0002012	HP:0001744	Splenomegaly	3	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency			46
HP:0002012	HP:0002240	Hepatomegaly	3	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency			46
HP:0002012	HP:0001744	Splenomegaly	3	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT	.		46
HP:0002012	HP:0002240	Hepatomegaly	3	ZAP70 CL E G H	7535	12858	OMIM:269840	SELECTIVE T-CELL DEFECT	.		46
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0002012	HP:0001080	Biliary tract abnormality	3	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0002012	HP:0001394	Cirrhosis	3	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0002012	HP:0001396	Cholestasis	3	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0002012	HP:0001406	Intrahepatic cholestasis	3	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0002012	HP:0001744	Splenomegaly	3	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0002012	HP:0002240	Hepatomegaly	3	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0002012	HP:0006563	Malformation of the hepatic ductal plate	3	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0002012	HP:0006707	Abnormality of the hepatic vasculature	3	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0002012	HP:0001080	Biliary tract abnormality	3	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0002012	HP:0002240	Hepatomegaly	3	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0002012	HP:0009799	Supernumerary spleens	3	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0002012	HP:0009799	Supernumerary spleens	3	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0002012	HP:0010451	Aplasia/Hypoplasia of the spleen	3	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0002012	HP:0001396	Cholestasis	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0002012	HP:0001744	Splenomegaly	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0002012	HP:0002240	Hepatomegaly	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0002012	HP:0001744	Splenomegaly	3	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0002012	HP:0002240	Hepatomegaly	3	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0002012	HP:0031137	Storage in hepatocytes	3	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0002012	HP:0011005	Mixed cirrhosis	4	CL E G H
HP:0002012	HP:0012439	Abnormal biliary tract physiology	4	CL E G H
HP:0002012	HP:0025060	Multifocal splenic abscess	4	CL E G H
HP:0002012	HP:0025061	Unifocal splenic abscess	4	CL E G H
HP:0002012	HP:0030993	Duplication of pancreatic duct	4	CL E G H
HP:0002012	HP:0031144	Coarsened hepatic echotexture	4	CL E G H
HP:0002012	HP:0031145	Starry sky appearance on hepatic sonography	4	CL E G H
HP:0002012	HP:0032181	Anomalous hepatic venous drainage into the left atrium	4	CL E G H
HP:0002012	HP:0032221	Periportal emperipolesis	4	CL E G H
HP:0002012	HP:0033197	Hepatic lobular inflammation	4	CL E G H
HP:0002012	HP:0034182	Segmental hypoplasia of liver	4	CL E G H
HP:0002012	HP:0100839	Hepatic agenesis	4	CL E G H
HP:0002012	HP:0001433	Hepatosplenomegaly	4	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease	HP:0040282 - Frequent		191
HP:0002012	HP:0000952	Jaundice	4	ABCB11 CL E G H	8647	42	OMIM:605479	Cholestasis, benign recurrent intrahepatic, 2	.		146
HP:0002012	HP:0001406	Intrahepatic cholestasis	4	ABCB11 CL E G H	8647	42	OMIM:605479	Cholestasis, benign recurrent intrahepatic, 2	HP:0040283 - Occasional		146
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	ABCB11 CL E G H	8647	42	OMIM:605479	Cholestasis, benign recurrent intrahepatic, 2			146
HP:0002012	HP:0000952	Jaundice	4	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2			146
HP:0002012	HP:0001406	Intrahepatic cholestasis	4	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2	.		146
HP:0002012	HP:0000952	Jaundice	4	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		146
HP:0002012	HP:0012438	Abnormal gallbladder physiology	4	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy			146
HP:0002012	HP:0000952	Jaundice	4	ABCB4 CL E G H	5244	45	OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3	HP:0040283 - Occasional		111
HP:0002012	HP:0001406	Intrahepatic cholestasis	4	ABCB4 CL E G H	5244	45	OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3	.		111
HP:0002012	HP:0000952	Jaundice	4	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3	.		111
HP:0002012	HP:0001406	Intrahepatic cholestasis	4	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3	.		111
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3			111
HP:0002012	HP:0000952	Jaundice	4	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1	HP:0040283 - Occasional		111
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1			111
HP:0002012	HP:0012438	Abnormal gallbladder physiology	4	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1			111
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1			111
HP:0002012	HP:0000952	Jaundice	4	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		111
HP:0002012	HP:0012438	Abnormal gallbladder physiology	4	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy			111
HP:0002012	HP:0001406	Intrahepatic cholestasis	4	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040281 - Very frequent		111
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis			111
HP:0002012	HP:0012438	Abnormal gallbladder physiology	4	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis			111
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis			111
HP:0002012	HP:0000952	Jaundice	4	ABCC2 CL E G H	1244	53	OMIM:237500	DUBIN-JOHNSON syndrome	.		119
HP:0002012	HP:0000952	Jaundice	4	ABCC2 CL E G H	1244	53	ORPHA:234	Dubin-Johnson syndrome	HP:0040281 - Very frequent		119
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency			245
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1			245
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			245
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040284 - Very rare		245
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	ABCC8 CL E G H	6833	59	ORPHA:552	MODY			245
HP:0002012	HP:0000952	Jaundice	4	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5			5
HP:0002012	HP:0001409	Portal hypertension	4	ABCD3 CL E G H	5825	67	OMIM:616278	BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5; CBAS5			5
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia			67
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	ABCG8 CL E G H	64241	13887	OMIM:611465	GALLBLADDER DISEASE 4; GBD4			76
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia			76
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome			90
HP:0002012	HP:0001413	Micronodular cirrhosis	4	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040283 - Occasional		90
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency			98
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency			98
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of			197
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency			90
HP:0002012	HP:0000952	Jaundice	4	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		200
HP:0002012	HP:0001404	Hepatocellular necrosis	4	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency	.		200
HP:0002012	HP:0001405	Periportal fibrosis	4	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0002012	HP:0001409	Portal hypertension	4	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5			23
HP:0002012	HP:0001748	Polysplenia	4	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal			161
HP:0002012	HP:0001409	Portal hypertension	4	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent		178
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia			178
HP:0002012	HP:0012438	Abnormal gallbladder physiology	4	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia			178
HP:0002012	HP:0006574	Hepatic arteriovenous malformation	4	ACVRL1 CL E G H	94	175	OMIM:600376	Telangiectasia, hereditary hemorrhagic, type 2	.		178
HP:0002012	HP:0001409	Portal hypertension	4	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0002012	HP:0001433	Hepatosplenomegaly	4	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0002012	HP:0000952	Jaundice	4	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary			129
HP:0002012	HP:0000952	Jaundice	4	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0002012	HP:0001433	Hepatosplenomegaly	4	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		116
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0002012	HP:0001735	Acute pancreatitis	4	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.		85
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0002012	HP:0001746	Asplenia	4	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0002012	HP:0200123	Chronic hepatitis	4	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0002012	HP:0000952	Jaundice	4	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2	.		62
HP:0002012	HP:0001406	Intrahepatic cholestasis	4	AKR1D1 CL E G H	6718	388	OMIM:235555	Bile acid synthesis defect, congenital, 2	.		62
HP:0002012	HP:0000952	Jaundice	4	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2	HP:0040281 - Very frequent		62
HP:0002012	HP:0200084	Giant cell hepatitis	4	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2			62
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2			62
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2			62
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy			12
HP:0002012	HP:0006568	Increased hepatic glycogen content	4	AKT2 CL E G H	208	392	ORPHA:293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy	HP:0040281 - Very frequent		12
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	ALAS2 CL E G H	212	397	OMIM:300752	Protoporphyria, erythropoietic, X-linked			72
HP:0002012	HP:0000952	Jaundice	4	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII	.		50
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0002012	HP:0012438	Abnormal gallbladder physiology	4	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII			50
HP:0002012	HP:0000952	Jaundice	4	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.		73
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary			73
HP:0002012	HP:0000952	Jaundice	4	ALDOB CL E G H	229	417	ORPHA:469	Hereditary fructose intolerance	HP:0040283 - Occasional		73
HP:0002012	HP:0001407	Hepatic cysts	4	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent
HP:0002012	HP:0006557	Polycystic liver disease	4	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional
HP:0002012	HP:0000952	Jaundice	4	ALG6 CL E G H	29929	23157	ORPHA:79320	ALG6-CDG	HP:0040283 - Occasional		66
HP:0002012	HP:0001407	Hepatic cysts	4	ALG8 CL E G H	79053	23161	OMIM:617874	POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS; PCLD3			46
HP:0002012	HP:0001405	Periportal fibrosis	4	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0002012	HP:0001407	Hepatic cysts	4	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0002012	HP:0001407	Hepatic cysts	4	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent		93
HP:0002012	HP:0006557	Polycystic liver disease	4	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional		93
HP:0002012	HP:0001433	Hepatosplenomegaly	4	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0002012	HP:0001405	Periportal fibrosis	4	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0002012	HP:0001409	Portal hypertension	4	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0002012	HP:0001433	Hepatosplenomegaly	4	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0002012	HP:0200123	Chronic hepatitis	4	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0002012	HP:0000952	Jaundice	4	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4			44
HP:0002012	HP:0001406	Intrahepatic cholestasis	4	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4	.		44
HP:0002012	HP:0200084	Giant cell hepatitis	4	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4	.		44
HP:0002012	HP:0002611	Cholestatic liver disease	4	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4			44
HP:0002012	HP:0200084	Giant cell hepatitis	4	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4			44
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4			44
HP:0002012	HP:0000952	Jaundice	4	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		150
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis			150
HP:0002012	HP:0000952	Jaundice	4	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1	.		150
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1			150
HP:0002012	HP:0001433	Hepatosplenomegaly	4	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare
HP:0002012	HP:0001405	Periportal fibrosis	4	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16			32
HP:0002012	HP:0001406	Intrahepatic cholestasis	4	AP1B1 CL E G H	162	554	ORPHA:171851	MEDNIK syndrome	HP:0040282 - Frequent
HP:0002012	HP:0001406	Intrahepatic cholestasis	4	AP1S1 CL E G H	1174	559	ORPHA:171851	MEDNIK syndrome	HP:0040282 - Frequent		1
HP:0002012	HP:0001433	Hepatosplenomegaly	4	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2			83
HP:0002012	HP:0001413	Micronodular cirrhosis	4	APC CL E G H	324	583	OMIM:114550	Hepatocellular carcinoma	.		3179
HP:0002012	HP:0006562	Viral hepatitis	4	APC CL E G H	324	583	OMIM:114550	Hepatocellular carcinoma			3179
HP:0002012	HP:0000952	Jaundice	4	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia			356
HP:0002012	HP:0001735	Acute pancreatitis	4	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040283 - Occasional		39
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia			39
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040284 - Very rare		2
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	APPL1 CL E G H	26060	24035	ORPHA:552	MODY			2
HP:0002012	HP:0001413	Micronodular cirrhosis	4	ARG1 CL E G H	383	663	OMIM:207800	Argininemia			31
HP:0002012	HP:0001409	Portal hypertension	4	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		147
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		147
HP:0002012	HP:0000952	Jaundice	4	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0002012	HP:0012438	Abnormal gallbladder physiology	4	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy			253
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0002012	HP:0012438	Abnormal gallbladder physiology	4	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0002012	HP:0012438	Abnormal gallbladder physiology	4	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0002012	HP:0012438	Abnormal gallbladder physiology	4	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia	HP:0040283 - Occasional		166
HP:0002012	HP:0001406	Intrahepatic cholestasis	4	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0002012	HP:0001433	Hepatosplenomegaly	4	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional		78
HP:0002012	HP:0006575	Intrahepatic cholestasis with episodic jaundice	4	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040284 - Very rare		78
HP:0002012	HP:0001409	Portal hypertension	4	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional		145
HP:0002012	HP:0001433	Hepatosplenomegaly	4	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		145
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0002012	HP:0000952	Jaundice	4	ATP11C CL E G H	286410	13554	OMIM:301015	Hemolytic anemia, congenital, X-linked	.		1
HP:0002012	HP:0000952	Jaundice	4	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0002012	HP:0001747	Accessory spleen	4	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0002012	HP:0012852	Hepatic bridging fibrosis	4	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0002012	HP:0000952	Jaundice	4	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R			36
HP:0002012	HP:0001413	Micronodular cirrhosis	4	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R			36
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R			36
HP:0002012	HP:0000952	Jaundice	4	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease			192
HP:0002012	HP:0000952	Jaundice	4	ATP7A CL E G H	538	869	ORPHA:198	Occipital horn syndrome	HP:0040282 - Frequent		192
HP:0002012	HP:0000952	Jaundice	4	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent		315
HP:0002012	HP:0000952	Jaundice	4	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0002012	HP:0200119	Acute hepatitis	4	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent		315
HP:0002012	HP:0200122	Atypical or prolonged hepatitis	4	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease	.		315
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease			315
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0002012	HP:0000952	Jaundice	4	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1			144
HP:0002012	HP:0001406	Intrahepatic cholestasis	4	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1			144
HP:0002012	HP:0006575	Intrahepatic cholestasis with episodic jaundice	4	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1	.		144
HP:0002012	HP:0000952	Jaundice	4	ATP8B1 CL E G H	5205	3706	OMIM:147480	Cholestasis, intrahepatic, of pregnancy, 1	.		144
HP:0002012	HP:0001406	Intrahepatic cholestasis	4	ATP8B1 CL E G H	5205	3706	OMIM:147480	Cholestasis, intrahepatic, of pregnancy, 1	.		144
HP:0002012	HP:0000952	Jaundice	4	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0002012	HP:0001406	Intrahepatic cholestasis	4	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0002012	HP:0006575	Intrahepatic cholestasis with episodic jaundice	4	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1	.		144
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0002012	HP:0000952	Jaundice	4	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		144
HP:0002012	HP:0012438	Abnormal gallbladder physiology	4	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy			144
HP:0002012	HP:0001413	Micronodular cirrhosis	4	AXIN1 CL E G H	8312	903	OMIM:114550	Hepatocellular carcinoma	.		3
HP:0002012	HP:0006562	Viral hepatitis	4	AXIN1 CL E G H	8312	903	OMIM:114550	Hepatocellular carcinoma			3
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0002012	HP:0001746	Asplenia	4	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		28
HP:0002012	HP:0001747	Accessory spleen	4	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		28
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		28
HP:0002012	HP:0001746	Asplenia	4	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		34
HP:0002012	HP:0001747	Accessory spleen	4	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		34
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		34
HP:0002012	HP:0000952	Jaundice	4	BAAT CL E G H	570	932	OMIM:619232	BILE ACID CONJUGATION DEFECT 1; BACD1			63
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0002012	HP:0001746	Asplenia	4	BCL11A CL E G H	53335	13221	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			11
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome			72
HP:0002012	HP:0012465	Elevated hepatic iron concentration	4	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome	HP:0040281 - Very frequent		72
HP:0002012	HP:0001405	Periportal fibrosis	4	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0002012	HP:0001407	Hepatic cysts	4	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent		5
HP:0002012	HP:0006557	Polycystic liver disease	4	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional		5
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040284 - Very rare		75
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	BLK CL E G H	640	1057	ORPHA:552	MODY			75
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	BLVRA CL E G H	644	1062	OMIM:614156	Hyperbiliverdinemia			2
HP:0002012	HP:0001409	Portal hypertension	4	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0002012	HP:0100752	Abnormal liver lobulation	4	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.		78
HP:0002012	HP:0000952	Jaundice	4	BRCA1 CL E G H	672	1100	ORPHA:70567	Cholangiocarcinoma	HP:0040281 - Very frequent		5769
HP:0002012	HP:0011985	Acholic stools	4	BRCA1 CL E G H	672	1100	ORPHA:70567	Cholangiocarcinoma	HP:0040281 - Very frequent		5769
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	BRCA1 CL E G H	672	1100	ORPHA:70567	Cholangiocarcinoma			5769
HP:0002012	HP:0000952	Jaundice	4	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent		5769
HP:0002012	HP:0001433	Hepatosplenomegaly	4	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		5769
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		5769
HP:0002012	HP:0012334	Extrahepatic cholestasis	4	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent		5769
HP:0002012	HP:0000952	Jaundice	4	BRCA2 CL E G H	675	1101	ORPHA:70567	Cholangiocarcinoma	HP:0040281 - Very frequent		7642
HP:0002012	HP:0011985	Acholic stools	4	BRCA2 CL E G H	675	1101	ORPHA:70567	Cholangiocarcinoma	HP:0040281 - Very frequent		7642
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	BRCA2 CL E G H	675	1101	ORPHA:70567	Cholangiocarcinoma			7642
HP:0002012	HP:0000952	Jaundice	4	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent		7642
HP:0002012	HP:0001433	Hepatosplenomegaly	4	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		7642
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		7642
HP:0002012	HP:0012334	Extrahepatic cholestasis	4	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent		7642
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0002012	HP:0001735	Acute pancreatitis	4	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.		105
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy			105
HP:0002012	HP:0006562	Viral hepatitis	4	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked			109
HP:0002012	HP:0006562	Viral hepatitis	4	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia			109
HP:0002012	HP:0001409	Portal hypertension	4	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		1
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0002012	HP:0200123	Chronic hepatitis	4	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency			1
HP:0002012	HP:0001433	Hepatosplenomegaly	4	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3	.		29
HP:0002012	HP:0000952	Jaundice	4	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional		1
HP:0002012	HP:0001409	Portal hypertension	4	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome	HP:0040281 - Very frequent		1
HP:0002012	HP:0012438	Abnormal gallbladder physiology	4	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome			1
HP:0002012	HP:0001409	Portal hypertension	4	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional		1
HP:0002012	HP:0001433	Hepatosplenomegaly	4	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		1
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27			35
HP:0002012	HP:0000952	Jaundice	4	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			118
HP:0002012	HP:0001413	Micronodular cirrhosis	4	CASP8 CL E G H	841	1509	OMIM:114550	Hepatocellular carcinoma	.		37
HP:0002012	HP:0006562	Viral hepatitis	4	CASP8 CL E G H	841	1509	OMIM:114550	Hepatocellular carcinoma			37
HP:0002012	HP:0000952	Jaundice	4	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional		272
HP:0002012	HP:0100027	Recurrent pancreatitis	4	CASR CL E G H	846	1514	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent		272
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0002012	HP:0001433	Hepatosplenomegaly	4	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3			11
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3			11
HP:0002012	HP:0100027	Recurrent pancreatitis	4	CAV1 CL E G H	857	1527	OMIM:606721	Lipodystrophy, familial partial, type 7			11
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4			48
HP:0002012	HP:0001409	Portal hypertension	4	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional		317
HP:0002012	HP:0001433	Hepatosplenomegaly	4	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		317
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2			247
HP:0002012	HP:0001409	Portal hypertension	4	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		247
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		247
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0002012	HP:0001746	Asplenia	4	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		247
HP:0002012	HP:0001747	Accessory spleen	4	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		247
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		247
HP:0002012	HP:0001407	Hepatic cysts	4	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6			247
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6			247
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6			247
HP:0002012	HP:0001746	Asplenia	4	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		36
HP:0002012	HP:0001748	Polysplenia	4	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		36
HP:0002012	HP:0000952	Jaundice	4	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO			3
HP:0002012	HP:0001433	Hepatosplenomegaly	4	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO			3
HP:0002012	HP:0002611	Cholestatic liver disease	4	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO	.		3
HP:0002012	HP:0001746	Asplenia	4	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0002012	HP:0001748	Polysplenia	4	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14			126
HP:0002012	HP:0001746	Asplenia	4	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		126
HP:0002012	HP:0001748	Polysplenia	4	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		126
HP:0002012	HP:0001746	Asplenia	4	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		182
HP:0002012	HP:0001748	Polysplenia	4	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		182
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome
HP:0002012	HP:0001746	Asplenia	4	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		23
HP:0002012	HP:0001748	Polysplenia	4	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		23
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0002012	HP:0001746	Asplenia	4	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		23
HP:0002012	HP:0001748	Polysplenia	4	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		23
HP:0002012	HP:0001433	Hepatosplenomegaly	4	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare		8
HP:0002012	HP:0001433	Hepatosplenomegaly	4	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional		8
HP:0002012	HP:0001433	Hepatosplenomegaly	4	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2			4
HP:0002012	HP:0001433	Hepatosplenomegaly	4	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional		18
HP:0002012	HP:0001433	Hepatosplenomegaly	4	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional		24
HP:0002012	HP:0200123	Chronic hepatitis	4	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM	.		33
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0002012	HP:0001433	Hepatosplenomegaly	4	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0002012	HP:0000952	Jaundice	4	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia			86
HP:0002012	HP:0100027	Recurrent pancreatitis	4	CDC73 CL E G H	79577	16783	OMIM:145001	Hyperparathyroidism 2	.		169
HP:0002012	HP:0000952	Jaundice	4	CDIN1 CL E G H	84529	26929	OMIM:615631	Anemia, congenital dyserythropoietic, type Ib	.
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0002012	HP:0012197	Insulinoma	4	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		2
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0002012	HP:0012197	Insulinoma	4	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		102
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0002012	HP:0012197	Insulinoma	4	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent		102
HP:0002012	HP:0012334	Extrahepatic cholestasis	4	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040283 - Occasional		102
HP:0002012	HP:0006277	Pancreatic hyperplasia	4	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.		114
HP:0002012	HP:0000952	Jaundice	4	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent		289
HP:0002012	HP:0001433	Hepatosplenomegaly	4	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		289
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		289
HP:0002012	HP:0012334	Extrahepatic cholestasis	4	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent		289
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0002012	HP:0012197	Insulinoma	4	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		1
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0002012	HP:0012197	Insulinoma	4	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0002012	HP:0001748	Polysplenia	4	CDON CL E G H	50937	17104	OMIM:614226	Holoprosencephaly 11	.		200
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	CEACAM3 CL E G H	1084	1815	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	CEACAM6 CL E G H	4680	1818	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent		1
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040284 - Very rare		25
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	CEL CL E G H	1056	1848	ORPHA:552	MODY			25
HP:0002012	HP:0001747	Accessory spleen	4	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome	HP:0040284 - Very rare		27
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	CEP164 CL E G H	22897	29182	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional		34
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure			1
HP:0002012	HP:0001746	Asplenia	4	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		342
HP:0002012	HP:0001747	Accessory spleen	4	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		342
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		342
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4			342
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	CEP290 CL E G H	80184	29021	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional		342
HP:0002012	HP:0001746	Asplenia	4	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002012	HP:0001748	Polysplenia	4	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002012	HP:0001746	Asplenia	4	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002012	HP:0001748	Polysplenia	4	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002012	HP:0001746	Asplenia	4	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002012	HP:0001748	Polysplenia	4	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002012	HP:0001748	Polysplenia	4	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0002012	HP:0001746	Asplenia	4	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal			13
HP:0002012	HP:0001748	Polysplenia	4	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal	.		13
HP:0002012	HP:0001433	Hepatosplenomegaly	4	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	CFTR CL E G H	1080	1884	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent		1371
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0002012	HP:0000952	Jaundice	4	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional		1371
HP:0002012	HP:0100027	Recurrent pancreatitis	4	CFTR CL E G H	1080	1884	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent		1371
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	CFTR CL E G H	1080	1884	OMIM:167800	Pancreatitis, hereditary	.		1371
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy			8
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5			8
HP:0002012	HP:0006562	Viral hepatitis	4	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II	.		118
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II			118
HP:0002012	HP:0200123	Chronic hepatitis	4	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II			118
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II			118
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	CLCA4 CL E G H	22802	2018	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent
HP:0002012	HP:0001433	Hepatosplenomegaly	4	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis	HP:0040284 - Very rare		102
HP:0002012	HP:0000952	Jaundice	4	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	.		11
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis			11
HP:0002012	HP:0000952	Jaundice	4	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome	HP:0040281 - Very frequent		11
HP:0002012	HP:0001409	Portal hypertension	4	CLDN1 CL E G H	9076	2032	ORPHA:59303	Neonatal ichthyosis-sclerosing cholangitis syndrome	HP:0040283 - Occasional		11
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7			38
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome			2
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome			2
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0002012	HP:0001433	Hepatosplenomegaly	4	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040283 - Occasional		52
HP:0002012	HP:0001433	Hepatosplenomegaly	4	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent		67
HP:0002012	HP:0001433	Hepatosplenomegaly	4	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional		79
HP:0002012	HP:0000952	Jaundice	4	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0002012	HP:0001433	Hepatosplenomegaly	4	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0002012	HP:0000952	Jaundice	4	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.		64
HP:0002012	HP:0032220	Interface hepatitis	4	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh			39
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0002012	HP:0100027	Recurrent pancreatitis	4	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	COX15 CL E G H	1355	2263	OMIM:615119	Mitochondrial complex IV deficiency, nuclear type 6			104
HP:0002012	HP:0100027	Recurrent pancreatitis	4	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002012	HP:0100027	Recurrent pancreatitis	4	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002012	HP:0000952	Jaundice	4	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis	.		13
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	COX4I2 CL E G H	84701	16232	OMIM:612714	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis	.		13
HP:0002012	HP:0012465	Elevated hepatic iron concentration	4	CP CL E G H	1356	2295	ORPHA:48818	Aceruloplasminemia	HP:0040282 - Frequent		115
HP:0002012	HP:0000952	Jaundice	4	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional		5
HP:0002012	HP:0100027	Recurrent pancreatitis	4	CPA1 CL E G H	1357	2296	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent		5
HP:0002012	HP:0001747	Accessory spleen	4	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.		1
HP:0002012	HP:0000952	Jaundice	4	CPOX CL E G H	1371	2321	OMIM:121300	Coproporphyria	.		72
HP:0002012	HP:0000952	Jaundice	4	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria			72
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency			99
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form			101
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form			101
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile			101
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.		101
HP:0002012	HP:0001747	Accessory spleen	4	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0002012	HP:0001433	Hepatosplenomegaly	4	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary	.		34
HP:0002012	HP:0001746	Asplenia	4	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		57
HP:0002012	HP:0001747	Accessory spleen	4	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		57
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		57
HP:0002012	HP:0001747	Accessory spleen	4	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.		2
HP:0002012	HP:0000952	Jaundice	4	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0002012	HP:0001413	Micronodular cirrhosis	4	CTNNB1 CL E G H	1499	2514	OMIM:114550	Hepatocellular carcinoma	.		88
HP:0002012	HP:0006562	Viral hepatitis	4	CTNNB1 CL E G H	1499	2514	OMIM:114550	Hepatocellular carcinoma			88
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	.		178
HP:0002012	HP:0000952	Jaundice	4	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional		39
HP:0002012	HP:0100027	Recurrent pancreatitis	4	CTRC CL E G H	11330	2523	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent		39
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	CTRC CL E G H	11330	2523	OMIM:167800	Pancreatitis, hereditary	.		39
HP:0002012	HP:0000952	Jaundice	4	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0002012	HP:0005236	Chronic calcifying pancreatitis	4	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0002012	HP:0001433	Hepatosplenomegaly	4	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis	HP:0040283 - Occasional		51
HP:0002012	HP:0001433	Hepatosplenomegaly	4	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis			39
HP:0002012	HP:0001433	Hepatosplenomegaly	4	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0002012	HP:0001735	Acute pancreatitis	4	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0002012	HP:0000952	Jaundice	4	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency			11
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency			11
HP:0002012	HP:0000952	Jaundice	4	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3	.		57
HP:0002012	HP:0001406	Intrahepatic cholestasis	4	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3	.		57
HP:0002012	HP:0011985	Acholic stools	4	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3	.		57
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3			57
HP:0002012	HP:0012852	Hepatic bridging fibrosis	4	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3			57
HP:0002012	HP:0000952	Jaundice	4	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3	HP:0040281 - Very frequent		57
HP:0002012	HP:0001433	Hepatosplenomegaly	4	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3			57
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3			57
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	DCDC2 CL E G H	51473	18141	OMIM:616217	Nephronophthisis 19			8
HP:0002012	HP:0000952	Jaundice	4	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal	.		8
HP:0002012	HP:0001409	Portal hypertension	4	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal	.		8
HP:0002012	HP:0011985	Acholic stools	4	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal			8
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal			8
HP:0002012	HP:0012852	Hepatic bridging fibrosis	4	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal			8
HP:0002012	HP:0001409	Portal hypertension	4	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0002012	HP:0001433	Hepatosplenomegaly	4	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	DCTN4 CL E G H	51164	15518	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG			62
HP:0002012	HP:0001433	Hepatosplenomegaly	4	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040283 - Occasional
HP:0002012	HP:0000952	Jaundice	4	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002012	HP:0000952	Jaundice	4	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.		57
HP:0002012	HP:0001404	Hepatocellular necrosis	4	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.		57
HP:0002012	HP:0001405	Periportal fibrosis	4	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.		57
HP:0002012	HP:0001409	Portal hypertension	4	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.		57
HP:0002012	HP:0001413	Micronodular cirrhosis	4	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.		57
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)			57
HP:0002012	HP:0001409	Portal hypertension	4	DGUOK CL E G H	1716	2858	OMIM:617068	Portal hypertension, noncirrhotic	.		57
HP:0002012	HP:0002611	Cholestatic liver disease	4	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0002012	HP:0000952	Jaundice	4	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	.		7
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome			164
HP:0002012	HP:0001433	Hepatosplenomegaly	4	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:0002012	HP:0001409	Portal hypertension	4	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		9
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		9
HP:0002012	HP:0001409	Portal hypertension	4	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6	HP:0040283 - Occasional		9
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1			152
HP:0002012	HP:0001746	Asplenia	4	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		116
HP:0002012	HP:0001748	Polysplenia	4	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		116
HP:0002012	HP:0001746	Asplenia	4	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002012	HP:0001748	Polysplenia	4	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002012	HP:0001746	Asplenia	4	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		78
HP:0002012	HP:0001748	Polysplenia	4	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		78
HP:0002012	HP:0001746	Asplenia	4	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		63
HP:0002012	HP:0001748	Polysplenia	4	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		63
HP:0002012	HP:0001746	Asplenia	4	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		27
HP:0002012	HP:0001748	Polysplenia	4	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		27
HP:0002012	HP:0001746	Asplenia	4	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		62
HP:0002012	HP:0001748	Polysplenia	4	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		62
HP:0002012	HP:0001746	Asplenia	4	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002012	HP:0001748	Polysplenia	4	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002012	HP:0001746	Asplenia	4	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		21
HP:0002012	HP:0001748	Polysplenia	4	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		21
HP:0002012	HP:0001746	Asplenia	4	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		542
HP:0002012	HP:0001748	Polysplenia	4	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		542
HP:0002012	HP:0001746	Asplenia	4	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		527
HP:0002012	HP:0001748	Polysplenia	4	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		527
HP:0002012	HP:0001746	Asplenia	4	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		18
HP:0002012	HP:0001748	Polysplenia	4	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		18
HP:0002012	HP:0001746	Asplenia	4	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1	.		73
HP:0002012	HP:0001746	Asplenia	4	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		73
HP:0002012	HP:0001748	Polysplenia	4	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		73
HP:0002012	HP:0001746	Asplenia	4	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		104
HP:0002012	HP:0001748	Polysplenia	4	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		104
HP:0002012	HP:0001407	Hepatic cysts	4	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent
HP:0002012	HP:0006557	Polycystic liver disease	4	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional
HP:0002012	HP:0001407	Hepatic cysts	4	DNAJB11 CL E G H	51726	14889	OMIM:618061	Polycystic kidney disease 6 with or without polycystic liver disease	HP:0040284 - Very rare
HP:0002012	HP:0001746	Asplenia	4	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		2
HP:0002012	HP:0001748	Polysplenia	4	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		2
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V			25
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	DNAJC21 CL E G H	134218	27030	OMIM:617052	Bone marrow failure syndrome 3	.		5
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent		5
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome			5
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.		5
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0002012	HP:0001746	Asplenia	4	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		167
HP:0002012	HP:0001748	Polysplenia	4	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		167
HP:0002012	HP:0001433	Hepatosplenomegaly	4	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0002012	HP:0002611	Cholestatic liver disease	4	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40			6
HP:0002012	HP:0001409	Portal hypertension	4	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		18
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		18
HP:0002012	HP:0000952	Jaundice	4	DPAGT1 CL E G H	1798	2995	OMIM:608093	Congenital disorder of glycosylation, type Ij	HP:0040283 - Occasional		38
HP:0002012	HP:0001433	Hepatosplenomegaly	4	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional		27
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG			27
HP:0002012	HP:0001746	Asplenia	4	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		44
HP:0002012	HP:0001748	Polysplenia	4	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		44
HP:0002012	HP:0000952	Jaundice	4	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis			121
HP:0002012	HP:0000952	Jaundice	4	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism			121
HP:0002012	HP:0000952	Jaundice	4	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis			11
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent		304
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0002012	HP:0000952	Jaundice	4	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional		4
HP:0002012	HP:0001405	Periportal fibrosis	4	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040281 - Very frequent		4
HP:0002012	HP:0001409	Portal hypertension	4	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		4
HP:0002012	HP:0001433	Hepatosplenomegaly	4	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional		4
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		4
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0002012	HP:0001433	Hepatosplenomegaly	4	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5			4
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12			80
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	EDNRA CL E G H	1909	3179	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent		3
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent		1
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome			1
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	EFL1 CL E G H	79631	25789	OMIM:617941	Shwachman-Diamond syndrome 2	.		1
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus			65
HP:0002012	HP:0000952	Jaundice	4	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040283 - Occasional		65
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040283 - Occasional		65
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0002012	HP:0001409	Portal hypertension	4	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0002012	HP:0001409	Portal hypertension	4	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent		186
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia			186
HP:0002012	HP:0012438	Abnormal gallbladder physiology	4	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia			186
HP:0002012	HP:0006574	Hepatic arteriovenous malformation	4	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1			186
HP:0002012	HP:0001409	Portal hypertension	4	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		4
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		4
HP:0002012	HP:0001747	Accessory spleen	4	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0002012	HP:0000952	Jaundice	4	EPB41 CL E G H	2035	3377	OMIM:611804	Elliptocytosis 1	.		6
HP:0002012	HP:0000952	Jaundice	4	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		6
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis			6
HP:0002012	HP:0000952	Jaundice	4	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		51
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis			51
HP:0002012	HP:0000952	Jaundice	4	EPB42 CL E G H	2038	3381	OMIM:612690	SPHEROCYTOSIS, TYPE 5; SPH5			51
HP:0002012	HP:0002611	Cholestatic liver disease	4	EPCAM CL E G H	4072	11529	ORPHA:92050	Congenital tufting enteropathy	HP:0040284 - Very rare		170
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q			158
HP:0002012	HP:0001747	Accessory spleen	4	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0002012	HP:0000952	Jaundice	4	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		37
HP:0002012	HP:0002614	Hepatic periportal necrosis	4	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		37
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			37
HP:0002012	HP:0000952	Jaundice	4	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		27
HP:0002012	HP:0002614	Hepatic periportal necrosis	4	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		27
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			27
HP:0002012	HP:0000952	Jaundice	4	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		77
HP:0002012	HP:0002614	Hepatic periportal necrosis	4	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		77
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency			77
HP:0002012	HP:0001747	Accessory spleen	4	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0002012	HP:0001407	Hepatic cysts	4	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	HP:0040283 - Occasional		3
HP:0002012	HP:0000952	Jaundice	4	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional		159
HP:0002012	HP:0001409	Portal hypertension	4	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome	HP:0040281 - Very frequent		159
HP:0002012	HP:0012438	Abnormal gallbladder physiology	4	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome			159
HP:0002012	HP:0012852	Hepatic bridging fibrosis	4	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS			3
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0002012	HP:0001746	Asplenia	4	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia	HP:0040283 - Occasional		8
HP:0002012	HP:0006270	Hypoplastic spleen	4	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia	.		8
HP:0002012	HP:0006568	Increased hepatic glycogen content	4	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14			36
HP:0002012	HP:0012465	Elevated hepatic iron concentration	4	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14			36
HP:0002012	HP:0001433	Hepatosplenomegaly	4	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0002012	HP:0001409	Portal hypertension	4	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency			64
HP:0002012	HP:0001433	Hepatosplenomegaly	4	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0002012	HP:0000952	Jaundice	4	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia	HP:0040283 - Occasional		5
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	FECH CL E G H	2235	3647	ORPHA:79278	Autosomal erythropoietic protoporphyria			145
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1			145
HP:0002012	HP:0001433	Hepatosplenomegaly	4	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III			23
HP:0002012	HP:0001433	Hepatosplenomegaly	4	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome	HP:0040283 - Occasional		175
HP:0002012	HP:0001433	Hepatosplenomegaly	4	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040283 - Occasional		175
HP:0002012	HP:0001747	Accessory spleen	4	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0002012	HP:0000952	Jaundice	4	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional		8
HP:0002012	HP:0033193	Ballooning hepatocyte degeneration	4	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0000952	Jaundice	4	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0001406	Intrahepatic cholestasis	4	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0006568	Increased hepatic glycogen content	4	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0012465	Elevated hepatic iron concentration	4	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0031142	Abnormal hepatic echogenicity	4	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0002012	HP:0001746	Asplenia	4	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0002012	HP:0001746	Asplenia	4	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional		61
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0002012	HP:0001746	Asplenia	4	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002012	HP:0001748	Polysplenia	4	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002012	HP:0001433	Hepatosplenomegaly	4	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0002012	HP:0000952	Jaundice	4	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			101
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0002012	HP:0000952	Jaundice	4	GALE CL E G H	2582	4116	OMIM:230350	Galactose epimerase deficiency	.		52
HP:0002012	HP:0000952	Jaundice	4	GALK1 CL E G H	2584	4118	OMIM:230200	Galactokinase deficiency			23
HP:0002012	HP:0001433	Hepatosplenomegaly	4	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040283 - Occasional		23
HP:0002012	HP:0000952	Jaundice	4	GALM CL E G H	130589	24063	OMIM:618881	GALACTOSEMIA IV; GALAC4
HP:0002012	HP:0000952	Jaundice	4	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040282 - Frequent		351
HP:0002012	HP:0001407	Hepatic cysts	4	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent		6
HP:0002012	HP:0006557	Polycystic liver disease	4	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional		6
HP:0002012	HP:0001407	Hepatic cysts	4	GANAB CL E G H	23193	4138	OMIM:600666	Polycystic kidney disease 3	.		6
HP:0002012	HP:0001746	Asplenia	4	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		1
HP:0002012	HP:0001748	Polysplenia	4	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		1
HP:0002012	HP:0001746	Asplenia	4	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		9
HP:0002012	HP:0001748	Polysplenia	4	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		9
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040281 - Very frequent		37
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0002012	HP:0001433	Hepatosplenomegaly	4	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0002012	HP:0001433	Hepatosplenomegaly	4	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040282 - Frequent
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0002012	HP:0001409	Portal hypertension	4	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV	.		86
HP:0002012	HP:0001433	Hepatosplenomegaly	4	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV	.		86
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	GCGR CL E G H	2642	4192	ORPHA:438274	GCGR-related hyperglucagonemia			1
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	GCGR CL E G H	2642	4192	ORPHA:438274	GCGR-related hyperglucagonemia	HP:0040282 - Frequent		1
HP:0002012	HP:0100027	Recurrent pancreatitis	4	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH			1
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH			1
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			237
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040284 - Very rare		237
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	GCK CL E G H	2645	4195	ORPHA:552	MODY			237
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	GCLC CL E G H	2729	4311	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent		2
HP:0002012	HP:0000952	Jaundice	4	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency	HP:0040283 - Occasional		2
HP:0002012	HP:0001433	Hepatosplenomegaly	4	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency	HP:0040283 - Occasional		2
HP:0002012	HP:0001746	Asplenia	4	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0002012	HP:0001748	Polysplenia	4	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)	.		28
HP:0002012	HP:0001409	Portal hypertension	4	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent		8
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia			8
HP:0002012	HP:0012438	Abnormal gallbladder physiology	4	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia			8
HP:0002012	HP:0001409	Portal hypertension	4	GDF2 CL E G H	2658	4217	OMIM:615506	TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT5			8
HP:0002012	HP:0000952	Jaundice	4	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA			50
HP:0002012	HP:0001409	Portal hypertension	4	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0002012	HP:0001433	Hepatosplenomegaly	4	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040281 - Very frequent		120
HP:0002012	HP:0001409	Portal hypertension	4	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism			143
HP:0002012	HP:0000952	Jaundice	4	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory	.		17
HP:0002012	HP:0001433	Hepatosplenomegaly	4	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory			17
HP:0002012	HP:0012465	Elevated hepatic iron concentration	4	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory			17
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0002012	HP:0001409	Portal hypertension	4	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002012	HP:0001433	Hepatosplenomegaly	4	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002012	HP:0001433	Hepatosplenomegaly	4	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent		173
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria			173
HP:0002012	HP:0001433	Hepatosplenomegaly	4	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional		240
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0002012	HP:0001748	Polysplenia	4	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional		73
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0002012	HP:0001748	Polysplenia	4	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0002012	HP:0001748	Polysplenia	4	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0002012	HP:0001748	Polysplenia	4	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	GPD1 CL E G H	2819	4455	OMIM:614480	Hypertriglyceridemia, transient infantile			3
HP:0002012	HP:0000952	Jaundice	4	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency	.		12
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency			12
HP:0002012	HP:0012438	Abnormal gallbladder physiology	4	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency			12
HP:0002012	HP:0100027	Recurrent pancreatitis	4	GPIHBP1 CL E G H	338328	24945	OMIM:615947	Hyperlipoproteinemia, type ID			12
HP:0002012	HP:0000952	Jaundice	4	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		2
HP:0002012	HP:0001409	Portal hypertension	4	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		2
HP:0002012	HP:0001433	Hepatosplenomegaly	4	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		2
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040281 - Very frequent		2
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	GSTM3 CL E G H	2947	4635	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent		1
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0002012	HP:0000952	Jaundice	4	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		5
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis			5
HP:0002012	HP:0006277	Pancreatic hyperplasia	4	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency			41
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency			41
HP:0002012	HP:0002611	Cholestatic liver disease	4	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		99
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2	HP:0040281 - Very frequent		15
HP:0002012	HP:0001433	Hepatosplenomegaly	4	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma	HP:0040282 - Frequent
HP:0002012	HP:0000952	Jaundice	4	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040282 - Frequent		580
HP:0002012	HP:0001433	Hepatosplenomegaly	4	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040283 - Occasional		580
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia			580
HP:0002012	HP:0012465	Elevated hepatic iron concentration	4	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040283 - Occasional		580
HP:0002012	HP:0000952	Jaundice	4	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040283 - Occasional		580
HP:0002012	HP:0001433	Hepatosplenomegaly	4	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040283 - Occasional		580
HP:0002012	HP:0000952	Jaundice	4	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional		580
HP:0002012	HP:0001433	Hepatosplenomegaly	4	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional		580
HP:0002012	HP:0200123	Chronic hepatitis	4	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional		580
HP:0002012	HP:0001746	Asplenia	4	HBB CL E G H	3043	4827	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			580
HP:0002012	HP:0000952	Jaundice	4	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia	.		580
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia			580
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia			580
HP:0002012	HP:0001746	Asplenia	4	HBG1 CL E G H	3047	4831	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			35
HP:0002012	HP:0000952	Jaundice	4	HBG2 CL E G H	3048	4832	OMIM:613977	Cyanosis, transient neonatal	HP:0040283 - Occasional		50
HP:0002012	HP:0001746	Asplenia	4	HBG2 CL E G H	3048	4832	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			50
HP:0002012	HP:0000952	Jaundice	4	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			21
HP:0002012	HP:0001433	Hepatosplenomegaly	4	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.		80
HP:0002012	HP:0001433	Hepatosplenomegaly	4	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	HFE CL E G H	3077	4886	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent		38
HP:0002012	HP:0001409	Portal hypertension	4	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional		38
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2	HP:0040281 - Very frequent
HP:0002012	HP:0000952	Jaundice	4	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency	.		11
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency			11
HP:0002012	HP:0012438	Abnormal gallbladder physiology	4	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency			11
HP:0002012	HP:0001409	Portal hypertension	4	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		2
HP:0002012	HP:0000952	Jaundice	4	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040283 - Occasional		35
HP:0002012	HP:0001735	Acute pancreatitis	4	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040284 - Very rare		35
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040282 - Frequent		35
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	HMOX1 CL E G H	3162	5013	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent		3
HP:0002012	HP:0001746	Asplenia	4	HMOX1 CL E G H	3162	5013	OMIM:614034	HEME OXYGENASE 1 DEFICIENCY; HMOX1D			3
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040284 - Very rare		161
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	HNF1A CL E G H	6927	11621	ORPHA:552	MODY			161
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome			90
HP:0002012	HP:0000952	Jaundice	4	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional		90
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional		90
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease			90
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome			90
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome			90
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency			138
HP:0002012	HP:0006568	Increased hepatic glycogen content	4	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040282 - Frequent		138
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040284 - Very rare		138
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	HNF4A CL E G H	3172	5024	ORPHA:552	MODY			138
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			31
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			5
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0002012	HP:0000952	Jaundice	4	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1	.		26
HP:0002012	HP:0001406	Intrahepatic cholestasis	4	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1	.		26
HP:0002012	HP:0200084	Giant cell hepatitis	4	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1	.		26
HP:0002012	HP:0011985	Acholic stools	4	HSD3B7 CL E G H	80270	18324	OMIM:607765	Bile acid synthesis defect, congenital, 1	.		26
HP:0002012	HP:0000952	Jaundice	4	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1	HP:0040281 - Very frequent		26
HP:0002012	HP:0002611	Cholestatic liver disease	4	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1			26
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0002012	HP:0000952	Jaundice	4	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0002012	HP:0001746	Asplenia	4	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		21
HP:0002012	HP:0001748	Polysplenia	4	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		21
HP:0002012	HP:0001747	Accessory spleen	4	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.		31
HP:0002012	HP:0000952	Jaundice	4	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0002012	HP:0001433	Hepatosplenomegaly	4	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040283 - Occasional
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy
HP:0002012	HP:0001433	Hepatosplenomegaly	4	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional		86
HP:0002012	HP:0001433	Hepatosplenomegaly	4	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional		86
HP:0002012	HP:0001433	Hepatosplenomegaly	4	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0002012	HP:0001433	Hepatosplenomegaly	4	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.		115
HP:0002012	HP:0000952	Jaundice	4	IER3IP1 CL E G H	51124	18550	OMIM:614231	Microcephaly, epilepsy, and diabetes syndrome	.		6
HP:0002012	HP:0000952	Jaundice	4	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0002012	HP:0001433	Hepatosplenomegaly	4	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		28
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0002012	HP:0001433	Hepatosplenomegaly	4	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69			23
HP:0002012	HP:0001407	Hepatic cysts	4	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		23
HP:0002012	HP:0001433	Hepatosplenomegaly	4	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR			60
HP:0002012	HP:0001407	Hepatic cysts	4	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.		93
HP:0002012	HP:0001407	Hepatic cysts	4	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent		148
HP:0002012	HP:0006557	Polycystic liver disease	4	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional		148
HP:0002012	HP:0001433	Hepatosplenomegaly	4	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent		65
HP:0002012	HP:0006277	Pancreatic hyperplasia	4	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.		9
HP:0002012	HP:0001413	Micronodular cirrhosis	4	IGF2R CL E G H	3482	5467	OMIM:114550	Hepatocellular carcinoma	.		4
HP:0002012	HP:0006562	Viral hepatitis	4	IGF2R CL E G H	3482	5467	OMIM:114550	Hepatocellular carcinoma			4
HP:0002012	HP:0006562	Viral hepatitis	4	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0002012	HP:0012438	Abnormal gallbladder physiology	4	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0002012	HP:0006562	Viral hepatitis	4	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0002012	HP:0012438	Abnormal gallbladder physiology	4	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0002012	HP:0001433	Hepatosplenomegaly	4	IKBKG CL E G H	8517	5961	OMIM:301081				52
HP:0002012	HP:0000952	Jaundice	4	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002012	HP:0001409	Portal hypertension	4	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0000952	Jaundice	4	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent		46
HP:0002012	HP:0001409	Portal hypertension	4	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent		46
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis			46
HP:0002012	HP:0000952	Jaundice	4	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0002012	HP:0004787	Fulminant hepatitis	4	IL18BP CL E G H	10068	5987	OMIM:618549	HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO; FVH
HP:0002012	HP:0200123	Chronic hepatitis	4	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56			7
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56			7
HP:0002012	HP:0001433	Hepatosplenomegaly	4	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41			65
HP:0002012	HP:0001433	Hepatosplenomegaly	4	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare		65
HP:0002012	HP:0001433	Hepatosplenomegaly	4	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare
HP:0002012	HP:0000952	Jaundice	4	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:0002012	HP:0012440	Abnormal biliary tract morphology	4	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14			51
HP:0002012	HP:0001433	Hepatosplenomegaly	4	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0002012	HP:0001433	Hepatosplenomegaly	4	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional		94
HP:0002012	HP:0001409	Portal hypertension	4	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		111
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		111
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			62
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040284 - Very rare		62
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	INS CL E G H	3630	6081	ORPHA:552	MODY			62
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome			229
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	INVS CL E G H	27130	17870	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional		106
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	IQCB1 CL E G H	9657	28949	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional		61
HP:0002012	HP:0000952	Jaundice	4	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent		4
HP:0002012	HP:0001409	Portal hypertension	4	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent		4
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis			4
HP:0002012	HP:0001409	Portal hypertension	4	ITCH CL E G H	83737	13890	OMIM:613385	AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM; ADMFD			3
HP:0002012	HP:0001409	Portal hypertension	4	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040283 - Occasional		3
HP:0002012	HP:0001433	Hepatosplenomegaly	4	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040281 - Very frequent		3
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency			3
HP:0002012	HP:0000952	Jaundice	4	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis			130
HP:0002012	HP:0000952	Jaundice	4	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.		257
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0002012	HP:0001407	Hepatic cysts	4	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE			12
HP:0002012	HP:0001433	Hepatosplenomegaly	4	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE			12
HP:0002012	HP:0032021	Eosinophilic liver infiltration	4	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE			12
HP:0002012	HP:0000952	Jaundice	4	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional		57
HP:0002012	HP:0001409	Portal hypertension	4	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome	HP:0040281 - Very frequent		57
HP:0002012	HP:0012438	Abnormal gallbladder physiology	4	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome			57
HP:0002012	HP:0001409	Portal hypertension	4	JAK2 CL E G H	3717	6192	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional		57
HP:0002012	HP:0001409	Portal hypertension	4	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional		57
HP:0002012	HP:0001433	Hepatosplenomegaly	4	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		57
HP:0002012	HP:0001433	Hepatosplenomegaly	4	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040284 - Very rare		140
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0002012	HP:0006270	Hypoplastic spleen	4	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional		10
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency			127
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0002012	HP:0008194	Multiple pancreatic beta-cell adenomas	4	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	KCNJ11 CL E G H	3767	6257	OMIM:601820	Hyperinsulinemic hypoglycemia, familial, 2			127
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			127
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040284 - Very rare		127
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY			127
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	KCNN4 CL E G H	3783	6293	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent		3
HP:0002012	HP:0000952	Jaundice	4	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis			3
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis			3
HP:0002012	HP:0000952	Jaundice	4	KCNN4 CL E G H	3783	6293	OMIM:616689	Dehydrated hereditary stomatocytosis 2	.		3
HP:0002012	HP:0006277	Pancreatic hyperplasia	4	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.		730
HP:0002012	HP:0006277	Pancreatic hyperplasia	4	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.		1
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0002012	HP:0000952	Jaundice	4	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8			1
HP:0002012	HP:0001409	Portal hypertension	4	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8			1
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8			1
HP:0002012	HP:0012852	Hepatic bridging fibrosis	4	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8			1
HP:0002012	HP:0000952	Jaundice	4	KIF23 CL E G H	9493	6392	OMIM:105600	Anemia, dyserythropoietic congenital, type III	.		1
HP:0002012	HP:0001413	Micronodular cirrhosis	4	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0002012	HP:0001433	Hepatosplenomegaly	4	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0002012	HP:0001433	Hepatosplenomegaly	4	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0002012	HP:0001746	Asplenia	4	KLF1 CL E G H	10661	6345	ORPHA:251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome			42
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040284 - Very rare		78
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	KLF11 CL E G H	8462	11811	ORPHA:552	MODY			78
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0002012	HP:0000952	Jaundice	4	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome			1
HP:0002012	HP:0001433	Hepatosplenomegaly	4	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040283 - Occasional		13
HP:0002012	HP:0000952	Jaundice	4	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent		196
HP:0002012	HP:0001433	Hepatosplenomegaly	4	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		196
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		196
HP:0002012	HP:0012334	Extrahepatic cholestasis	4	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent		196
HP:0002012	HP:0006576	Hepatic vascular malformations	4	KRIT1 CL E G H	889	1573	OMIM:116860	Cerebral cavernous malformations 1	.		92
HP:0002012	HP:0000952	Jaundice	4	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial	.		19
HP:0002012	HP:0001413	Micronodular cirrhosis	4	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial	.		19
HP:0002012	HP:0004787	Fulminant hepatitis	4	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial			19
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial			19
HP:0002012	HP:0000952	Jaundice	4	KYNU CL E G H	8942	6469	OMIM:236800	HYDROXYKYNURENINURIA			5
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1
HP:0002012	HP:0001433	Hepatosplenomegaly	4	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0002012	HP:0000952	Jaundice	4	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome	.		70
HP:0002012	HP:0000952	Jaundice	4	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome	HP:0040283 - Occasional		70
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome			70
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia			2157
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia			73
HP:0002012	HP:0001747	Accessory spleen	4	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.		2
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome
HP:0002012	HP:0000952	Jaundice	4	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			51
HP:0002012	HP:0000952	Jaundice	4	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			43
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0002012	HP:0000952	Jaundice	4	LIPA CL E G H	3988	6617	ORPHA:75234	Cholesteryl ester storage disease	HP:0040283 - Occasional		73
HP:0002012	HP:0001405	Periportal fibrosis	4	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0002012	HP:0001409	Portal hypertension	4	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0002012	HP:0001433	Hepatosplenomegaly	4	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0002012	HP:0012852	Hepatic bridging fibrosis	4	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0002012	HP:0031142	Abnormal hepatic echogenicity	4	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy			7
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6			7
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF			46
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type			645
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type			645
HP:0002012	HP:0001735	Acute pancreatitis	4	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	HP:0040282 - Frequent		645
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2			645
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome			645
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy			11
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0002012	HP:0001433	Hepatosplenomegaly	4	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS			186
HP:0002012	HP:0000952	Jaundice	4	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia	.		106
HP:0002012	HP:0001433	Hepatosplenomegaly	4	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia	.		106
HP:0002012	HP:0006557	Polycystic liver disease	4	LRP5 CL E G H	4041	6697	ORPHA:2924	Isolated polycystic liver disease	HP:0040281 - Very frequent		125
HP:0002012	HP:0001407	Hepatic cysts	4	LRP5 CL E G H	4041	6697	OMIM:617875	Polycystic liver disease 4 with or without kidney cysts			125
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0002012	HP:0001746	Asplenia	4	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002012	HP:0001748	Polysplenia	4	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002012	HP:0000952	Jaundice	4	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0002012	HP:0001433	Hepatosplenomegaly	4	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0002012	HP:0000952	Jaundice	4	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional		239
HP:0002012	HP:0001433	Hepatosplenomegaly	4	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040282 - Frequent		239
HP:0002012	HP:0000952	Jaundice	4	LYST CL E G H	1130	1968	OMIM:214500	Chediak-Higashi syndrome	.		239
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus
HP:0002012	HP:0008194	Multiple pancreatic beta-cell adenomas	4	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus	.
HP:0002012	HP:0012197	Insulinoma	4	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus
HP:0002012	HP:0001433	Hepatosplenomegaly	4	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040283 - Occasional		136
HP:0002012	HP:0001433	Hepatosplenomegaly	4	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040282 - Frequent		136
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency			81
HP:0002012	HP:0001746	Asplenia	4	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		13
HP:0002012	HP:0001748	Polysplenia	4	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		13
HP:0002012	HP:0006270	Hypoplastic spleen	4	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0002012	HP:0012438	Abnormal gallbladder physiology	4	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome			950
HP:0002012	HP:0000952	Jaundice	4	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0002012	HP:0001409	Portal hypertension	4	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0002012	HP:0001433	Hepatosplenomegaly	4	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0002012	HP:0001433	Hepatosplenomegaly	4	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:0002012	HP:0001748	Polysplenia	4	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome	HP:0040283 - Occasional		13
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	MEN1 CL E G H	4221	7010	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent		462
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1			462
HP:0002012	HP:0012197	Insulinoma	4	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1			462
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0002012	HP:0012197	Insulinoma	4	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		462
HP:0002012	HP:0001413	Micronodular cirrhosis	4	MET CL E G H	4233	7029	OMIM:114550	Hepatocellular carcinoma	.		375
HP:0002012	HP:0006562	Viral hepatitis	4	MET CL E G H	4233	7029	OMIM:114550	Hepatocellular carcinoma			375
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	MIF CL E G H	4282	7097	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent		1
HP:0002012	HP:0001746	Asplenia	4	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		127
HP:0002012	HP:0001747	Accessory spleen	4	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		127
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		127
HP:0002012	HP:0001746	Asplenia	4	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.		127
HP:0002012	HP:0001747	Accessory spleen	4	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.		127
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0002012	HP:0001409	Portal hypertension	4	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0002012	HP:0000952	Jaundice	4	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional		101
HP:0002012	HP:0000952	Jaundice	4	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002012	HP:0001409	Portal hypertension	4	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0001748	Polysplenia	4	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal	.		3
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0002012	HP:0001746	Asplenia	4	MNS1 CL E G H	55329	29636	OMIM:618948	HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0002012	HP:0001433	Hepatosplenomegaly	4	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional		37
HP:0002012	HP:0001409	Portal hypertension	4	MPI CL E G H	4351	7216	ORPHA:79319	MPI-CDG	HP:0040282 - Frequent		51
HP:0002012	HP:0001409	Portal hypertension	4	MPL CL E G H	4352	7217	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional		97
HP:0002012	HP:0001409	Portal hypertension	4	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional		97
HP:0002012	HP:0001433	Hepatosplenomegaly	4	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		97
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE			56
HP:0002012	HP:0000952	Jaundice	4	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0002012	HP:0001404	Hepatocellular necrosis	4	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0002012	HP:0001413	Micronodular cirrhosis	4	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16			13
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34			12
HP:0002012	HP:0000952	Jaundice	4	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		1
HP:0002012	HP:0001409	Portal hypertension	4	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		1
HP:0002012	HP:0001433	Hepatosplenomegaly	4	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		1
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040281 - Very frequent		1
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0002012	HP:0001433	Hepatosplenomegaly	4	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome			150
HP:0002012	HP:0001433	Hepatosplenomegaly	4	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria			150
HP:0002012	HP:0006268	Fluctuating splenomegaly	4	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria	.		150
HP:0002012	HP:0006564	Fluctuating hepatomegaly	4	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria	.		150
HP:0002012	HP:0001746	Asplenia	4	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	HP:0003577 - Congenital onset	35
HP:0002012	HP:0001747	Accessory spleen	4	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.		35
HP:0002012	HP:0001748	Polysplenia	4	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.		35
HP:0002012	HP:0000952	Jaundice	4	MYO5B CL E G H	4645	7603	OMIM:619868				192
HP:0002012	HP:0011985	Acholic stools	4	MYO5B CL E G H	4645	7603	OMIM:619868				192
HP:0002012	HP:0001747	Accessory spleen	4	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	.		2
HP:0002012	HP:0000952	Jaundice	4	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0002012	HP:0000952	Jaundice	4	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2			25
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0002012	HP:0001433	Hepatosplenomegaly	4	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0002012	HP:0100027	Recurrent pancreatitis	4	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002012	HP:0100027	Recurrent pancreatitis	4	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002012	HP:0100027	Recurrent pancreatitis	4	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002012	HP:0100027	Recurrent pancreatitis	4	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002012	HP:0006270	Hypoplastic spleen	4	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional		96
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11			40
HP:0002012	HP:0001746	Asplenia	4	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002012	HP:0001748	Polysplenia	4	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002012	HP:0001407	Hepatic cysts	4	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2			43
HP:0002012	HP:0001746	Asplenia	4	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	HP:0040283 - Occasional		43
HP:0002012	HP:0001433	Hepatosplenomegaly	4	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040282 - Frequent		43
HP:0002012	HP:0001433	Hepatosplenomegaly	4	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional		43
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040284 - Very rare		32
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY			32
HP:0002012	HP:0001409	Portal hypertension	4	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis	HP:0040282 - Frequent		5
HP:0002012	HP:0002611	Cholestatic liver disease	4	NEUROG3 CL E G H	50674	13806	ORPHA:83620	Enteric anendocrinosis	HP:0040282 - Frequent		5
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52			5
HP:0002012	HP:0001413	Micronodular cirrhosis	4	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional		32
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0002012	HP:0001404	Hepatocellular necrosis	4	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis	.
HP:0002012	HP:0001433	Hepatosplenomegaly	4	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0002012	HP:0000952	Jaundice	4	NKX2-5 CL E G H	1482	2488	ORPHA:95712	Thyroid ectopia	HP:0040281 - Very frequent		90
HP:0002012	HP:0001433	Hepatosplenomegaly	4	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA			217
HP:0002012	HP:0001746	Asplenia	4	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		50
HP:0002012	HP:0001748	Polysplenia	4	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		50
HP:0002012	HP:0001746	Asplenia	4	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0002012	HP:0001409	Portal hypertension	4	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		452
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		452
HP:0002012	HP:0002611	Cholestatic liver disease	4	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2	.		138
HP:0002012	HP:0000952	Jaundice	4	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1			258
HP:0002012	HP:0000952	Jaundice	4	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2			33
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	NPHP1 CL E G H	4867	7905	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional		85
HP:0002012	HP:0001409	Portal hypertension	4	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0002012	HP:0001433	Hepatosplenomegaly	4	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome	HP:0040282 - Frequent		157
HP:0002012	HP:0001407	Hepatic cysts	4	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.		157
HP:0002012	HP:0001409	Portal hypertension	4	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0002012	HP:0001746	Asplenia	4	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.		157
HP:0002012	HP:0001748	Polysplenia	4	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.		157
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	NPHP3 CL E G H	27031	7907	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional		157
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	NPHP4 CL E G H	261734	19104	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional		220
HP:0002012	HP:0000952	Jaundice	4	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5			14
HP:0002012	HP:0000952	Jaundice	4	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		14
HP:0002012	HP:0012438	Abnormal gallbladder physiology	4	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy			14
HP:0002012	HP:0000952	Jaundice	4	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0002012	HP:0000952	Jaundice	4	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	NSD2 CL E G H	7468	12766	OMIM:619695	RAUCH-STEINDL SYNDROME; RAUST			118
HP:0002012	HP:0001747	Accessory spleen	4	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.		118
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			2
HP:0002012	HP:0001735	Acute pancreatitis	4	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10	.		2
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10			2
HP:0002012	HP:0000952	Jaundice	4	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.		23
HP:0002012	HP:0001746	Asplenia	4	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002012	HP:0001748	Polysplenia	4	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002012	HP:0001746	Asplenia	4	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002012	HP:0001748	Polysplenia	4	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002012	HP:0001746	Asplenia	4	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002012	HP:0001748	Polysplenia	4	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002012	HP:0001746	Asplenia	4	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002012	HP:0001748	Polysplenia	4	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002012	HP:0001407	Hepatic cysts	4	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.		201
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional		201
HP:0002012	HP:0001746	Asplenia	4	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		201
HP:0002012	HP:0001748	Polysplenia	4	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		201
HP:0002012	HP:0001746	Asplenia	4	ORAI1 CL E G H	84876	25896	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome	HP:0040281 - Very frequent		19
HP:0002012	HP:0001433	Hepatosplenomegaly	4	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0002012	HP:0000952	Jaundice	4	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent		1349
HP:0002012	HP:0001433	Hepatosplenomegaly	4	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		1349
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		1349
HP:0002012	HP:0012334	Extrahepatic cholestasis	4	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent		1349
HP:0002012	HP:0000952	Jaundice	4	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent		192
HP:0002012	HP:0001433	Hepatosplenomegaly	4	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		192
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		192
HP:0002012	HP:0012334	Extrahepatic cholestasis	4	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent		192
HP:0002012	HP:0000952	Jaundice	4	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	PAX4 CL E G H	5078	8618	OMIM:612227	Diabetes mellitus, ketosis-prone			55
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040284 - Very rare		55
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	PAX4 CL E G H	5078	8618	ORPHA:552	MODY			55
HP:0002012	HP:0000952	Jaundice	4	PAX8 CL E G H	7849	8622	ORPHA:95712	Thyroid ectopia	HP:0040281 - Very frequent		63
HP:0002012	HP:0000952	Jaundice	4	PAX8 CL E G H	7849	8622	ORPHA:95720	Thyroid hypoplasia	HP:0040281 - Very frequent		63
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic			53
HP:0002012	HP:0031142	Abnormal hepatic echogenicity	4	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic			53
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	PCK2 CL E G H	5106	8725	OMIM:261650	Phosphoenolpyruvate carboxykinase 2, mitochondrial			6
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia			178
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0002012	HP:0001413	Micronodular cirrhosis	4	PDGFRL CL E G H	5157	8805	OMIM:114550	Hepatocellular carcinoma	.		2
HP:0002012	HP:0006562	Viral hepatitis	4	PDGFRL CL E G H	5157	8805	OMIM:114550	Hepatocellular carcinoma			2
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			30
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040284 - Very rare		30
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	PDX1 CL E G H	3651	6107	ORPHA:552	MODY			30
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital	.		30
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital			30
HP:0002012	HP:0000952	Jaundice	4	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0002012	HP:0002611	Cholestatic liver disease	4	PERCC1 CL E G H	105371045	52293	ORPHA:92050	Congenital tufting enteropathy	HP:0040284 - Very rare
HP:0002012	HP:0000952	Jaundice	4	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0002012	HP:0000952	Jaundice	4	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		169
HP:0002012	HP:0000952	Jaundice	4	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0002012	HP:0000952	Jaundice	4	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		75
HP:0002012	HP:0000952	Jaundice	4	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		4
HP:0002012	HP:0000952	Jaundice	4	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		65
HP:0002012	HP:0000952	Jaundice	4	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		66
HP:0002012	HP:0000952	Jaundice	4	PEX14 CL E G H	5195	8856	OMIM:614887	Peroxisome biogenesis disorder 13A (Zellweger)	.		46
HP:0002012	HP:0000952	Jaundice	4	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		46
HP:0002012	HP:0000952	Jaundice	4	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)	.		59
HP:0002012	HP:0000952	Jaundice	4	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		59
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0002012	HP:0000952	Jaundice	4	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		62
HP:0002012	HP:0000952	Jaundice	4	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.		82
HP:0002012	HP:0001433	Hepatosplenomegaly	4	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.		82
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0002012	HP:0000952	Jaundice	4	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		82
HP:0002012	HP:0000952	Jaundice	4	PEX26 CL E G H	55670	22965	OMIM:614872	Peroxisome biogenesis disorder 7A (zellweger)	.		106
HP:0002012	HP:0000952	Jaundice	4	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		106
HP:0002012	HP:0000952	Jaundice	4	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		47
HP:0002012	HP:0000952	Jaundice	4	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.		99
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0002012	HP:0000952	Jaundice	4	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		99
HP:0002012	HP:0000952	Jaundice	4	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040281 - Very frequent		98
HP:0002012	HP:0000952	Jaundice	4	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII	.		64
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII			64
HP:0002012	HP:0001406	Intrahepatic cholestasis	4	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0002012	HP:0200123	Chronic hepatitis	4	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0002012	HP:0006568	Increased hepatic glycogen content	4	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0002012	HP:0006568	Increased hepatic glycogen content	4	PHKB CL E G H	5257	8927	OMIM:261750	Glycogen storage disease ixb	.		101
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0002012	HP:0006568	Increased hepatic glycogen content	4	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc			48
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc			48
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0002012	HP:0000952	Jaundice	4	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis			36
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis			36
HP:0002012	HP:0000952	Jaundice	4	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:0002012	HP:0012437	Abnormal gallbladder morphology	4	PIEZO1 CL E G H	9780	28993	OMIM:194380	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema			36
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0002012	HP:0012465	Elevated hepatic iron concentration	4	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0002012	HP:0001413	Micronodular cirrhosis	4	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH			46
HP:0002012	HP:0000952	Jaundice	4	PIGA CL E G H	5277	8957	ORPHA:447	Paroxysmal nocturnal hemoglobinuria	HP:0040283 - Occasional		46
HP:0002012	HP:0001409	Portal hypertension	4	PIGM CL E G H	93183	18858	OMIM:610293	Glycosylphosphatidylinositol deficiency	.		6
HP:0002012	HP:0001413	Micronodular cirrhosis	4	PIK3CA CL E G H	5290	8975	OMIM:114550	Hepatocellular carcinoma	.		162
HP:0002012	HP:0006562	Viral hepatitis	4	PIK3CA CL E G H	5290	8975	OMIM:114550	Hepatocellular carcinoma			162
HP:0002012	HP:0001407	Hepatic cysts	4	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent		342
HP:0002012	HP:0006557	Polycystic liver disease	4	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional		342
HP:0002012	HP:0001407	Hepatic cysts	4	PKD1 CL E G H	5310	9008	OMIM:173900	Polycystic kidneys	.		342
HP:0002012	HP:0001407	Hepatic cysts	4	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040281 - Very frequent		106
HP:0002012	HP:0006557	Polycystic liver disease	4	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional		106
HP:0002012	HP:0000952	Jaundice	4	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2			106
HP:0002012	HP:0001407	Hepatic cysts	4	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2	HP:0040283 - Occasional		106
HP:0002012	HP:0000952	Jaundice	4	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional		563
HP:0002012	HP:0001405	Periportal fibrosis	4	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040281 - Very frequent		563
HP:0002012	HP:0001409	Portal hypertension	4	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		563
HP:0002012	HP:0001433	Hepatosplenomegaly	4	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional		563
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		563
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0002012	HP:0000952	Jaundice	4	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040282 - Frequent		563
HP:0002012	HP:0001406	Intrahepatic cholestasis	4	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040282 - Frequent		563
HP:0002012	HP:0001409	Portal hypertension	4	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040284 - Very rare		563
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease			563
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease			563
HP:0002012	HP:0001405	Periportal fibrosis	4	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease	.		563
HP:0002012	HP:0001407	Hepatic cysts	4	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease	.		563
HP:0002012	HP:0001409	Portal hypertension	4	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease	.		563
HP:0002012	HP:0000952	Jaundice	4	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency			51
HP:0002012	HP:0000952	Jaundice	4	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells	.		51
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0002012	HP:0012438	Abnormal gallbladder physiology	4	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0002012	HP:0001433	Hepatosplenomegaly	4	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis	HP:0040284 - Very rare		2
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4			19
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy			19
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy			65
HP:0002012	HP:0006280	Chronic pancreatitis	4	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040283 - Occasional		65
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0002012	HP:0012438	Abnormal gallbladder physiology	4	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	PNPLA6 CL E G H	10908	16268	ORPHA:2377	Laurence-Moon syndrome	HP:0040283 - Occasional		103
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome			731
HP:0002012	HP:0001413	Micronodular cirrhosis	4	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.		464
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)			464
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)			464
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0002012	HP:0000952	Jaundice	4	POLG2 CL E G H	11232	9180	OMIM:618528	Mitochondrial DNA depletion syndrome 16 (hepatic type)	.		45
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0002012	HP:0000952	Jaundice	4	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			36
HP:0002012	HP:0000952	Jaundice	4	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1	.		36
HP:0002012	HP:0000952	Jaundice	4	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002012	HP:0001409	Portal hypertension	4	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3			42
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0002012	HP:0001747	Accessory spleen	4	PPP2R3C CL E G H	55012	17485	OMIM:618419	Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0002012	HP:0000952	Jaundice	4	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional		58
HP:0002012	HP:0002611	Cholestatic liver disease	4	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent		58
HP:0002012	HP:0000952	Jaundice	4	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0002012	HP:0001433	Hepatosplenomegaly	4	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0002012	HP:0001409	Portal hypertension	4	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002012	HP:0001747	Accessory spleen	4	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002012	HP:0006577	Macronodular cirrhosis	4	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0002012	HP:0000952	Jaundice	4	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma	HP:0040283 - Occasional		134
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0002012	HP:0001433	Hepatosplenomegaly	4	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3			10
HP:0002012	HP:0006557	Polycystic liver disease	4	PRKCSH CL E G H	5589	9411	ORPHA:2924	Isolated polycystic liver disease	HP:0040281 - Very frequent		63
HP:0002012	HP:0006557	Polycystic liver disease	4	PRKCSH CL E G H	5589	9411	OMIM:174050	Polycystic liver disease 1 with or without kidney cysts	.		63
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0002012	HP:0000952	Jaundice	4	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function			54
HP:0002012	HP:0000952	Jaundice	4	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0002012	HP:0000952	Jaundice	4	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional		51
HP:0002012	HP:0100027	Recurrent pancreatitis	4	PRSS1 CL E G H	5644	9475	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent		51
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	PRSS1 CL E G H	5644	9475	OMIM:167800	Pancreatitis, hereditary	.		51
HP:0002012	HP:0000952	Jaundice	4	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional		1
HP:0002012	HP:0100027	Recurrent pancreatitis	4	PRSS2 CL E G H	5645	9483	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent		1
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	PRSS2 CL E G H	5645	9483	OMIM:167800	Pancreatitis, hereditary	.		1
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0002012	HP:0012438	Abnormal gallbladder physiology	4	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0002012	HP:0012438	Abnormal gallbladder physiology	4	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0002012	HP:0012438	Abnormal gallbladder physiology	4	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0002012	HP:0001433	Hepatosplenomegaly	4	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne			96
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	PTF1A CL E G H	256297	23734	OMIM:615935	Pancreatic agenesis 2			22
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	PTF1A CL E G H	256297	23734	ORPHA:65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	HP:0040282 - Frequent		22
HP:0002012	HP:0001433	Hepatosplenomegaly	4	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare
HP:0002012	HP:0001433	Hepatosplenomegaly	4	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare		3
HP:0002012	HP:0000952	Jaundice	4	PTPN3 CL E G H	5774	9655	ORPHA:70567	Cholangiocarcinoma	HP:0040281 - Very frequent		1
HP:0002012	HP:0011985	Acholic stools	4	PTPN3 CL E G H	5774	9655	ORPHA:70567	Cholangiocarcinoma	HP:0040281 - Very frequent		1
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	PTPN3 CL E G H	5774	9655	ORPHA:70567	Cholangiocarcinoma			1
HP:0002012	HP:0001433	Hepatosplenomegaly	4	PTPRC CL E G H	5788	9666	OMIM:619924				25
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040281 - Very frequent		6
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040283 - Occasional		6
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset			6
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional		19
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional		19
HP:0002012	HP:0006568	Increased hepatic glycogen content	4	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040281 - Very frequent		71
HP:0002012	HP:0006568	Increased hepatic glycogen content	4	PYGL CL E G H	5836	9725	OMIM:232700	Glycogen storage disease VI			71
HP:0002012	HP:0001748	Polysplenia	4	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome	HP:0040283 - Occasional		31
HP:0002012	HP:0001748	Polysplenia	4	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0002012	HP:0000952	Jaundice	4	RAB27A CL E G H	5873	9766	ORPHA:79477	Griscelli syndrome type 2	HP:0040282 - Frequent		67
HP:0002012	HP:0001433	Hepatosplenomegaly	4	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2			67
HP:0002012	HP:0000952	Jaundice	4	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent
HP:0002012	HP:0001433	Hepatosplenomegaly	4	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent
HP:0002012	HP:0012334	Extrahepatic cholestasis	4	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent
HP:0002012	HP:0001433	Hepatosplenomegaly	4	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B			9
HP:0002012	HP:0001433	Hepatosplenomegaly	4	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional		127
HP:0002012	HP:0001433	Hepatosplenomegaly	4	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional		50
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	RARB CL E G H	5915	9865	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional		9
HP:0002012	HP:0001433	Hepatosplenomegaly	4	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0002012	HP:0001433	Hepatosplenomegaly	4	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0002012	HP:0001409	Portal hypertension	4	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		3
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		3
HP:0002012	HP:0031941	Abnormal portal venous system morphology	4	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome			445
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92			1
HP:0002012	HP:0006270	Hypoplastic spleen	4	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional		334
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0002012	HP:0001748	Polysplenia	4	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W
HP:0002012	HP:0006562	Viral hepatitis	4	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II	.		38
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II			38
HP:0002012	HP:0200123	Chronic hepatitis	4	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II			38
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II			38
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome			28
HP:0002012	HP:0011985	Acholic stools	4	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome	.		28
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome			28
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome			28
HP:0002012	HP:0006562	Viral hepatitis	4	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II	.		26
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II			26
HP:0002012	HP:0200123	Chronic hepatitis	4	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II			26
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II			26
HP:0002012	HP:0006562	Viral hepatitis	4	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II	.		34
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II			34
HP:0002012	HP:0200123	Chronic hepatitis	4	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II			34
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II			34
HP:0002012	HP:0000952	Jaundice	4	RHAG CL E G H	6005	10006	OMIM:268150	Anemia, hemolytic, Rh-null, Regulator type	.		13
HP:0002012	HP:0000952	Jaundice	4	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis			13
HP:0002012	HP:0000952	Jaundice	4	RHAG CL E G H	6005	10006	OMIM:185000	Overhydrated hereditary stomatocytosis	.		13
HP:0002012	HP:0000952	Jaundice	4	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional		13
HP:0002012	HP:0001433	Hepatosplenomegaly	4	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional		13
HP:0002012	HP:0000952	Jaundice	4	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional		8
HP:0002012	HP:0001433	Hepatosplenomegaly	4	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional		8
HP:0002012	HP:0000952	Jaundice	4	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional		16
HP:0002012	HP:0001433	Hepatosplenomegaly	4	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional		16
HP:0002012	HP:0000952	Jaundice	4	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3			99
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3			99
HP:0002012	HP:0012852	Hepatic bridging fibrosis	4	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3			99
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11			26
HP:0002012	HP:0000952	Jaundice	4	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0002012	HP:0001433	Hepatosplenomegaly	4	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		33
HP:0002012	HP:0001433	Hepatosplenomegaly	4	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4			33
HP:0002012	HP:0000952	Jaundice	4	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0002012	HP:0001433	Hepatosplenomegaly	4	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		34
HP:0002012	HP:0000952	Jaundice	4	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0002012	HP:0001433	Hepatosplenomegaly	4	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		60
HP:0002012	HP:0001433	Hepatosplenomegaly	4	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3			60
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome			5
HP:0002012	HP:0000952	Jaundice	4	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0002012	HP:0001433	Hepatosplenomegaly	4	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent		15
HP:0002012	HP:0000952	Jaundice	4	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0002012	HP:0001433	Hepatosplenomegaly	4	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0002012	HP:0001409	Portal hypertension	4	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002012	HP:0001433	Hepatosplenomegaly	4	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002012	HP:0001735	Acute pancreatitis	4	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002012	HP:0001746	Asplenia	4	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		200
HP:0002012	HP:0001748	Polysplenia	4	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		200
HP:0002012	HP:0001746	Asplenia	4	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		109
HP:0002012	HP:0001747	Accessory spleen	4	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		109
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		109
HP:0002012	HP:0001409	Portal hypertension	4	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		167
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		167
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0002012	HP:0001746	Asplenia	4	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		167
HP:0002012	HP:0001747	Accessory spleen	4	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		167
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		167
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	RPGRIP1L CL E G H	23322	29168	OMIM:611561	Meckel syndrome, type 5			167
HP:0002012	HP:0001746	Asplenia	4	RPSA CL E G H	3921	6502	OMIM:271400	Asplenia, isolated congenital	.		9
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0002012	HP:0001746	Asplenia	4	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		31
HP:0002012	HP:0001748	Polysplenia	4	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		31
HP:0002012	HP:0001746	Asplenia	4	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		5
HP:0002012	HP:0001748	Polysplenia	4	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		5
HP:0002012	HP:0001746	Asplenia	4	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		58
HP:0002012	HP:0001748	Polysplenia	4	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		58
HP:0002012	HP:0001746	Asplenia	4	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		20
HP:0002012	HP:0001748	Polysplenia	4	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		20
HP:0002012	HP:0001433	Hepatosplenomegaly	4	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0002012	HP:0001409	Portal hypertension	4	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional		181
HP:0002012	HP:0001433	Hepatosplenomegaly	4	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		181
HP:0002012	HP:0006270	Hypoplastic spleen	4	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	HP:0040283 - Occasional		8
HP:0002012	HP:0000952	Jaundice	4	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0002012	HP:0001433	Hepatosplenomegaly	4	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		55
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease			8
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent		26
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome			26
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.		26
HP:0002012	HP:0001406	Intrahepatic cholestasis	4	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0002012	HP:0001406	Intrahepatic cholestasis	4	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent		80
HP:0002012	HP:0001433	Hepatosplenomegaly	4	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1			77
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			67
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			61
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1			57
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0002012	HP:0001433	Hepatosplenomegaly	4	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:0002012	HP:0002612	Congenital hepatic fibrosis	4	SDCCAG8 CL E G H	10806	10671	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional		61
HP:0002012	HP:0006568	Increased hepatic glycogen content	4	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0002012	HP:0000952	Jaundice	4	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II	.		60
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II			60
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0002012	HP:0006557	Polycystic liver disease	4	SEC63 CL E G H	11231	21082	ORPHA:2924	Isolated polycystic liver disease	HP:0040281 - Very frequent		137
HP:0002012	HP:0001407	Hepatic cysts	4	SEC63 CL E G H	11231	21082	OMIM:617004	Polycystic liver disease 2	.		137
HP:0002012	HP:0000952	Jaundice	4	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0002012	HP:0001409	Portal hypertension	4	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent
HP:0002012	HP:0001433	Hepatosplenomegaly	4	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040281 - Very frequent
HP:0002012	HP:0000952	Jaundice	4	SERPINA1 CL E G H	5265	8941	ORPHA:60	Alpha-1-antitrypsin deficiency	HP:0040282 - Frequent		131
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	SERPINA1 CL E G H	5265	8941	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent		131
HP:0002012	HP:0000952	Jaundice	4	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0002012	HP:0004787	Fulminant hepatitis	4	SH2D1A CL E G H	4068	10820	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1			37
HP:0002012	HP:0001409	Portal hypertension	4	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent		2
HP:0002012	HP:0002611	Cholestatic liver disease	4	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent		2
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0002012	HP:0200123	Chronic hepatitis	4	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0002012	HP:0000952	Jaundice	4	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0002012	HP:0000952	Jaundice	4	SLC10A1 CL E G H	6554	10905	OMIM:619256	HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	SLC11A1 CL E G H	6556	10907	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent		2
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	SLC16A1 CL E G H	6566	10922	OMIM:610021	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7			74
HP:0002012	HP:0000952	Jaundice	4	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary			207
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II			82
HP:0002012	HP:0033193	Ballooning hepatocyte degeneration	4	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset			82
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset			82
HP:0002012	HP:0001406	Intrahepatic cholestasis	4	SLC25A13 CL E G H	10165	10983	OMIM:605814	Citrullinemia, type II, neonatal-onset	.		82
HP:0002012	HP:0000952	Jaundice	4	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040281 - Very frequent		82
HP:0002012	HP:0001433	Hepatosplenomegaly	4	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040282 - Frequent		82
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency			82
HP:0002012	HP:0200119	Acute hepatitis	4	SLC25A15 CL E G H	10166	10985	OMIM:238970	Hyperornithinemia-Hyperammonemia-Homocitrullinuria syndrome	.		88
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency			40
HP:0002012	HP:0000952	Jaundice	4	SLC26A4 CL E G H	5172	8818	ORPHA:95720	Thyroid hypoplasia	HP:0040281 - Very frequent		274
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	SLC26A9 CL E G H	115019	14469	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent		5
HP:0002012	HP:0001433	Hepatosplenomegaly	4	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040282 - Frequent		68
HP:0002012	HP:0001433	Hepatosplenomegaly	4	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0002012	HP:0000952	Jaundice	4	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040282 - Frequent		255
HP:0002012	HP:0001433	Hepatosplenomegaly	4	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040282 - Frequent		255
HP:0002012	HP:0000952	Jaundice	4	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects	.		255
HP:0002012	HP:0006568	Increased hepatic glycogen content	4	SLC2A2 CL E G H	6514	11006	ORPHA:2088	Fanconi-Bickel syndrome	HP:0040281 - Very frequent		71
HP:0002012	HP:0000952	Jaundice	4	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040283 - Occasional		42
HP:0002012	HP:0001409	Portal hypertension	4	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040282 - Frequent		42
HP:0002012	HP:0001413	Micronodular cirrhosis	4	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040282 - Frequent		42
HP:0002012	HP:0000952	Jaundice	4	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0002012	HP:0031142	Abnormal hepatic echogenicity	4	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib			110
HP:0002012	HP:0006568	Increased hepatic glycogen content	4	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:0002012	HP:0006280	Chronic pancreatitis	4	SLC37A4 CL E G H	2542	4061	OMIM:232240	GLYCOGEN STORAGE DISEASE Ic	.		110
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	SLC40A1 CL E G H	30061	10909	ORPHA:139491	Hemochromatosis type 4	HP:0040283 - Occasional		56
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	SLC40A1 CL E G H	30061	10909	ORPHA:139491	Hemochromatosis type 4			56
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4			56
HP:0002012	HP:0000952	Jaundice	4	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0002012	HP:0000952	Jaundice	4	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis			109
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis			109
HP:0002012	HP:0000952	Jaundice	4	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		109
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis			109
HP:0002012	HP:0001433	Hepatosplenomegaly	4	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia	.		109
HP:0002012	HP:0000952	Jaundice	4	SLC4A1 CL E G H	6521	11027	OMIM:612653	Spherocytosis, type 4	.		109
HP:0002012	HP:0001405	Periportal fibrosis	4	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0002012	HP:0001406	Intrahepatic cholestasis	4	SLC51A CL E G H	200931	29955	OMIM:619484	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6; PFIC6
HP:0002012	HP:0000952	Jaundice	4	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0002012	HP:0001405	Periportal fibrosis	4	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0002012	HP:0000952	Jaundice	4	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis			59
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	SLC6A14 CL E G H	11254	11047	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent
HP:0002012	HP:0001433	Hepatosplenomegaly	4	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent		104
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	SLC9A3 CL E G H	6550	11073	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent		7
HP:0002012	HP:0000952	Jaundice	4	SLCO1B1 CL E G H	10599	10959	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic	.		52
HP:0002012	HP:0000952	Jaundice	4	SLCO1B1 CL E G H	10599	10959	ORPHA:3111	Rotor syndrome	HP:0040281 - Very frequent		52
HP:0002012	HP:0000952	Jaundice	4	SLCO1B3 CL E G H	28234	10961	OMIM:237450	Hyperbilirubinemia, Rotor type, digenic	.		60
HP:0002012	HP:0000952	Jaundice	4	SLCO1B3 CL E G H	28234	10961	ORPHA:3111	Rotor syndrome	HP:0040281 - Very frequent		60
HP:0002012	HP:0001746	Asplenia	4	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0002012	HP:0000952	Jaundice	4	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent		504
HP:0002012	HP:0001433	Hepatosplenomegaly	4	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		504
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		504
HP:0002012	HP:0012334	Extrahepatic cholestasis	4	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent		504
HP:0002012	HP:0001409	Portal hypertension	4	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent		504
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia			504
HP:0002012	HP:0012438	Abnormal gallbladder physiology	4	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia			504
HP:0002012	HP:0006574	Hepatic arteriovenous malformation	4	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome			504
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B			164
HP:0002012	HP:0000952	Jaundice	4	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0002012	HP:0001433	Hepatosplenomegaly	4	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional		14
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0002012	HP:0001409	Portal hypertension	4	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0002012	HP:0001433	Hepatosplenomegaly	4	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0002012	HP:0000952	Jaundice	4	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040283 - Occasional		49
HP:0002012	HP:0001409	Portal hypertension	4	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040283 - Occasional		49
HP:0002012	HP:0001433	Hepatosplenomegaly	4	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040282 - Frequent		49
HP:0002012	HP:0001746	Asplenia	4	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		45
HP:0002012	HP:0001748	Polysplenia	4	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		45
HP:0002012	HP:0001746	Asplenia	4	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		15
HP:0002012	HP:0001748	Polysplenia	4	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		15
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0002012	HP:0000952	Jaundice	4	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002012	HP:0001409	Portal hypertension	4	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0000952	Jaundice	4	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis	HP:0040283 - Occasional		34
HP:0002012	HP:0100027	Recurrent pancreatitis	4	SPINK1 CL E G H	6690	11244	ORPHA:676	Hereditary chronic pancreatitis	HP:0040281 - Very frequent		34
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	SPINK1 CL E G H	6690	11244	OMIM:167800	Pancreatitis, hereditary	.		34
HP:0002012	HP:0006280	Chronic pancreatitis	4	SPINK1 CL E G H	6690	11244	OMIM:608189	Tropical calcific pancreatitis	.		34
HP:0002012	HP:0000952	Jaundice	4	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0002012	HP:0005236	Chronic calcifying pancreatitis	4	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0002012	HP:0000952	Jaundice	4	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0002012	HP:0000952	Jaundice	4	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		228
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis			228
HP:0002012	HP:0000952	Jaundice	4	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		228
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis			228
HP:0002012	HP:0000952	Jaundice	4	SPTB CL E G H	6710	11274	OMIM:617948	ELLIPTOCYTOSIS 3; EL3			156
HP:0002012	HP:0000952	Jaundice	4	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		156
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis			156
HP:0002012	HP:0000952	Jaundice	4	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		156
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis			156
HP:0002012	HP:0000952	Jaundice	4	SPTB CL E G H	6710	11274	OMIM:616649	SPHEROCYTOSIS, TYPE 2; SPH2			156
HP:0002012	HP:0000952	Jaundice	4	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	SRP54 CL E G H	6729	11301	OMIM:618752	NEUTROPENIA, SEVERE CONGENITAL, 8, AUTOSOMAL DOMINANT; SCN8
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040281 - Very frequent
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0002012	HP:0001409	Portal hypertension	4	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional		1
HP:0002012	HP:0001433	Hepatosplenomegaly	4	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		1
HP:0002012	HP:0001433	Hepatosplenomegaly	4	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent		89
HP:0002012	HP:0001433	Hepatosplenomegaly	4	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1			110
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus			110
HP:0002012	HP:0001433	Hepatosplenomegaly	4	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare		2
HP:0002012	HP:0012465	Elevated hepatic iron concentration	4	STEAP3 CL E G H	55240	24592	OMIM:615234	Anemia, hypochromic microcytic, with iron overload 2			1
HP:0002012	HP:0001433	Hepatosplenomegaly	4	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts	HP:0040283 - Occasional		1
HP:0002012	HP:0012465	Elevated hepatic iron concentration	4	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts	HP:0040282 - Frequent		1
HP:0002012	HP:0001746	Asplenia	4	STIM1 CL E G H	6786	11386	OMIM:185070	Stormorken syndrome	.		31
HP:0002012	HP:0001746	Asplenia	4	STIM1 CL E G H	6786	11386	ORPHA:3204	Stormorken-Sjaastad-Langslet syndrome	HP:0040281 - Very frequent		31
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome			740
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome			740
HP:0002012	HP:0001746	Asplenia	4	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		3
HP:0002012	HP:0001748	Polysplenia	4	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		3
HP:0002012	HP:0001409	Portal hypertension	4	STN1 CL E G H	79991	26200	OMIM:617341	Cerebroretinal microangiopathy with calcifications and cysts 2	.		2
HP:0002012	HP:0100800	Aplasia/Hypoplasia of the pancreas	4	STRA6 CL E G H	64220	30650	ORPHA:2470	Matthew-Wood syndrome	HP:0040283 - Occasional		71
HP:0002012	HP:0006270	Hypoplastic spleen	4	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.		71
HP:0002012	HP:0000952	Jaundice	4	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional		85
HP:0002012	HP:0002611	Cholestatic liver disease	4	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent		85
HP:0002012	HP:0000952	Jaundice	4	STX11 CL E G H	8676	11429	OMIM:603552	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4; FHL4			85
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	STX1A CL E G H	6804	11433	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0002012	HP:0000952	Jaundice	4	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional		70
HP:0002012	HP:0002611	Cholestatic liver disease	4	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent		70
HP:0002012	HP:0001433	Hepatosplenomegaly	4	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5			70
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0002012	HP:0001413	Micronodular cirrhosis	4	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.		34
HP:0002012	HP:0001433	Hepatosplenomegaly	4	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0002012	HP:0001433	Hepatosplenomegaly	4	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency	HP:0040281 - Very frequent		34
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21			28
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0002012	HP:0000952	Jaundice	4	TBX19 CL E G H	9095	11596	OMIM:201400	Acth deficiency, isolated	.		57
HP:0002012	HP:0000952	Jaundice	4	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency			57
HP:0002012	HP:0000952	Jaundice	4	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		241
HP:0002012	HP:0001409	Portal hypertension	4	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		241
HP:0002012	HP:0001433	Hepatosplenomegaly	4	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent		241
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040281 - Very frequent		241
HP:0002012	HP:0001433	Hepatosplenomegaly	4	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis	HP:0040284 - Very rare		82
HP:0002012	HP:0001746	Asplenia	4	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		45
HP:0002012	HP:0001747	Accessory spleen	4	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		45
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		45
HP:0002012	HP:0001746	Asplenia	4	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		76
HP:0002012	HP:0001747	Accessory spleen	4	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		76
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		76
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18			31
HP:0002012	HP:0001746	Asplenia	4	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		31
HP:0002012	HP:0001747	Accessory spleen	4	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		31
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		31
HP:0002012	HP:0001409	Portal hypertension	4	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional		3
HP:0002012	HP:0001433	Hepatosplenomegaly	4	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent		3
HP:0002012	HP:0001433	Hepatosplenomegaly	4	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75			3
HP:0002012	HP:0001409	Portal hypertension	4	TET2 CL E G H	54790	25941	ORPHA:729	Polycythemia vera	HP:0040283 - Occasional		3
HP:0002012	HP:0001409	Portal hypertension	4	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040283 - Occasional		3
HP:0002012	HP:0001433	Hepatosplenomegaly	4	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent		3
HP:0002012	HP:0000952	Jaundice	4	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	.		1
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)			1
HP:0002012	HP:0001433	Hepatosplenomegaly	4	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0002012	HP:0012438	Abnormal gallbladder physiology	4	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0002012	HP:0000952	Jaundice	4	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis			155
HP:0002012	HP:0001433	Hepatosplenomegaly	4	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	TGFB1 CL E G H	7040	11766	ORPHA:586	Cystic fibrosis	HP:0040281 - Very frequent		13
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0002012	HP:0001406	Intrahepatic cholestasis	4	TJP2 CL E G H	9414	11828	OMIM:615878	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4			149
HP:0002012	HP:0001409	Portal hypertension	4	TJP2 CL E G H	9414	11828	OMIM:615878	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4; PFIC4			149
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0002012	HP:0001746	Asplenia	4	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		4
HP:0002012	HP:0001747	Accessory spleen	4	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		4
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		4
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	TMEM199 CL E G H	147007	18085	OMIM:616829	Congenital disorder of glycosylation, type IIP			4
HP:0002012	HP:0001746	Asplenia	4	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		45
HP:0002012	HP:0001747	Accessory spleen	4	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		45
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		45
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2			45
HP:0002012	HP:0001746	Asplenia	4	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		33
HP:0002012	HP:0001747	Accessory spleen	4	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		33
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		33
HP:0002012	HP:0001746	Asplenia	4	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		82
HP:0002012	HP:0001747	Accessory spleen	4	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		82
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		82
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0002012	HP:0001409	Portal hypertension	4	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1	.		166
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6			166
HP:0002012	HP:0001409	Portal hypertension	4	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		166
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		166
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0002012	HP:0001746	Asplenia	4	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		166
HP:0002012	HP:0001747	Accessory spleen	4	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		166
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		166
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3			166
HP:0002012	HP:0001409	Portal hypertension	4	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0002012	HP:0001433	Hepatosplenomegaly	4	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0002012	HP:0001406	Intrahepatic cholestasis	4	TMPRSS6 CL E G H	164656	16517	ORPHA:209981	IRIDA syndrome	HP:0040282 - Frequent		65
HP:0002012	HP:0001433	Hepatosplenomegaly	4	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2	.		44
HP:0002012	HP:0000952	Jaundice	4	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002012	HP:0001409	Portal hypertension	4	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis
HP:0002012	HP:0000952	Jaundice	4	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent		71
HP:0002012	HP:0001409	Portal hypertension	4	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent		71
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis			71
HP:0002012	HP:0001433	Hepatosplenomegaly	4	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0002012	HP:0000952	Jaundice	4	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent		911
HP:0002012	HP:0001433	Hepatosplenomegaly	4	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional		911
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040281 - Very frequent		911
HP:0002012	HP:0012334	Extrahepatic cholestasis	4	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040282 - Frequent		911
HP:0002012	HP:0001413	Micronodular cirrhosis	4	TP53 CL E G H	7157	11998	OMIM:114550	Hepatocellular carcinoma	.		911
HP:0002012	HP:0006562	Viral hepatitis	4	TP53 CL E G H	7157	11998	OMIM:114550	Hepatocellular carcinoma			911
HP:0002012	HP:0000952	Jaundice	4	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency	.		28
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0002012	HP:0012438	Abnormal gallbladder physiology	4	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0002012	HP:0000952	Jaundice	4	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis			92
HP:0002012	HP:0006268	Fluctuating splenomegaly	4	TPP2 CL E G H	7174	12016	OMIM:619220	IMMUNODEFICIENCY 78 WITH AUTOIMMUNITY AND DEVELOPMENTAL DELAY; IMD78
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	TRAF3IP1 CL E G H	26146	17861	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional		6
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18			27
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18			27
HP:0002012	HP:0000952	Jaundice	4	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0002012	HP:0001433	Hepatosplenomegaly	4	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		56
HP:0002012	HP:0000952	Jaundice	4	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0002012	HP:0001413	Micronodular cirrhosis	4	TREX1 CL E G H	11277	12269	OMIM:192315	Vasculopathy, retinal, with cerebral leukodystrophy	HP:0040283 - Occasional		56
HP:0002012	HP:0000952	Jaundice	4	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome			2
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0002012	HP:0000952	Jaundice	4	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient	.		101
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient			101
HP:0002012	HP:0100027	Recurrent pancreatitis	4	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002012	HP:0100027	Recurrent pancreatitis	4	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002012	HP:0100027	Recurrent pancreatitis	4	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0002012	HP:0100027	Recurrent pancreatitis	4	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002012	HP:0100027	Recurrent pancreatitis	4	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0002012	HP:0100027	Recurrent pancreatitis	4	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002012	HP:0100027	Recurrent pancreatitis	4	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0002012	HP:0001407	Hepatic cysts	4	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		1090
HP:0002012	HP:0001407	Hepatic cysts	4	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		2738
HP:0002012	HP:0000952	Jaundice	4	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency			9
HP:0002012	HP:0000952	Jaundice	4	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations			97
HP:0002012	HP:0000952	Jaundice	4	TSHR CL E G H	7253	12373	ORPHA:95720	Thyroid hypoplasia	HP:0040281 - Very frequent		97
HP:0002012	HP:0001746	Asplenia	4	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002012	HP:0001748	Polysplenia	4	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002012	HP:0001407	Hepatic cysts	4	TTC21B CL E G H	79809	25660	OMIM:613819	Short-Rib thoracic dysplasia 4 with or without polydactyly	.		132
HP:0002012	HP:0000952	Jaundice	4	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002012	HP:0001409	Portal hypertension	4	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0002012	HP:0032220	Interface hepatitis	4	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome	HP:0040283 - Occasional		26
HP:0002012	HP:0000952	Jaundice	4	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0002012	HP:0001409	Portal hypertension	4	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0002012	HP:0001433	Hepatosplenomegaly	4	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0002012	HP:0012852	Hepatic bridging fibrosis	4	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0002012	HP:0001746	Asplenia	4	TWIST1 CL E G H	7291	12428	OMIM:617746	Sweeney-Cox syndrome	.		18
HP:0002012	HP:0001746	Asplenia	4	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		2
HP:0002012	HP:0001747	Accessory spleen	4	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		2
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040281 - Very frequent		2
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.		25
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040281 - Very frequent		25
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency			15
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0002012	HP:0000952	Jaundice	4	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1			73
HP:0002012	HP:0000952	Jaundice	4	UGT1A1 CL E G H	54658	12530	ORPHA:79235	Crigler-Najjar syndrome type 2			73
HP:0002012	HP:0000952	Jaundice	4	UGT1A1 CL E G H	54658	12530	OMIM:218800	Crigler-Najjar syndrome, type I			73
HP:0002012	HP:0000952	Jaundice	4	UGT1A1 CL E G H	54658	12530	OMIM:606785	Crigler-najjar syndrome, type II	.		73
HP:0002012	HP:0000952	Jaundice	4	UGT1A1 CL E G H	54658	12530	OMIM:237900	Hyperbilirubinemia, familial transient neonatal	.		73
HP:0002012	HP:0000952	Jaundice	4	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040283 - Occasional		116
HP:0002012	HP:0002611	Cholestatic liver disease	4	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent		116
HP:0002012	HP:0001433	Hepatosplenomegaly	4	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3			116
HP:0002012	HP:0000952	Jaundice	4	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic			41
HP:0002012	HP:0000952	Jaundice	4	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0002012	HP:0012852	Hepatic bridging fibrosis	4	USP53 CL E G H	54532	29255	OMIM:619658	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS; PFIC7
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			63
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0002012	HP:0000952	Jaundice	4	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.		27
HP:0002012	HP:0002611	Cholestatic liver disease	4	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.		27
HP:0002012	HP:0200084	Giant cell hepatitis	4	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.		27
HP:0002012	HP:0001433	Hepatosplenomegaly	4	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:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0002012	HP:0000952	Jaundice	4	VPS33B CL E G H	26276	12712	OMIM:620010				63
HP:0002012	HP:0000952	Jaundice	4	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.		63
HP:0002012	HP:0002611	Cholestatic liver disease	4	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.		63
HP:0002012	HP:0200084	Giant cell hepatitis	4	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.		63
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0002012	HP:0012437	Abnormal gallbladder morphology	4	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0002012	HP:0001406	Intrahepatic cholestasis	4	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0002012	HP:0001407	Hepatic cysts	4	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13	HP:0040283 - Occasional		95
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13			95
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	WDR19 CL E G H	57728	18340	ORPHA:3156	Senior-Loken syndrome	HP:0040283 - Occasional		95
HP:0002012	HP:0001407	Hepatic cysts	4	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8	.		95
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8			95
HP:0002012	HP:0001748	Polysplenia	4	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0002012	HP:0002612	Congenital hepatic fibrosis	4	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent		136
HP:0002012	HP:0001746	Asplenia	4	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive	.		12
HP:0002012	HP:0001747	Accessory spleen	4	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0002012	HP:0004787	Fulminant hepatitis	4	XIAP CL E G H	331	592	OMIM:308240	Lymphoproliferative syndrome, X-linked, 1			81
HP:0002012	HP:0006280	Chronic pancreatitis	4	XPNPEP3 CL E G H	63929	28052	OMIM:613159	Nephronophthisis-Like nephropathy 1	HP:0040283 - Occasional		109
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome			9
HP:0002012	HP:0000952	Jaundice	4	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002012	HP:0001738	Exocrine pancreatic insufficiency	4	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002012	HP:0001747	Accessory spleen	4	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002012	HP:0001748	Polysplenia	4	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002012	HP:0002611	Cholestatic liver disease	4	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002012	HP:0006577	Macronodular cirrhosis	4	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002012	HP:0006476	Abnormality of the pancreatic islet cells	4	YY1 CL E G H	7528	12856	ORPHA:97279	Insulinoma	HP:0040281 - Very frequent		7
HP:0002012	HP:0001433	Hepatosplenomegaly	4	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040283 - Occasional		46
HP:0002012	HP:0001746	Asplenia	4	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional		362
HP:0002012	HP:0001746	Asplenia	4	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional		362
HP:0002012	HP:0000952	Jaundice	4	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0002012	HP:0001406	Intrahepatic cholestasis	4	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0002012	HP:0001409	Portal hypertension	4	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0002012	HP:0001413	Micronodular cirrhosis	4	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0002012	HP:0001746	Asplenia	4	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0002012	HP:0001748	Polysplenia	4	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked	.		39
HP:0002012	HP:0012440	Abnormal biliary tract morphology	4	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0002012	HP:0001746	Asplenia	4	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		20
HP:0002012	HP:0001748	Polysplenia	4	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		20
HP:0002012	HP:0001433	Hepatosplenomegaly	4	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0002012	HP:0001433	Hepatosplenomegaly	4	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91
HP:0002012	HP:0006561	Lipid accumulation in hepatocytes	4	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0002012	HP:0004941	Extrahepatic portal hypertension	5	CL E G H
HP:0002012	HP:0012396	Biliary dyskinesia	5	CL E G H
HP:0002012	HP:0025154	Portosystemic collateral veins	5	CL E G H
HP:0002012	HP:0030154	Gallbladder perforation	5	CL E G H
HP:0002012	HP:0030170	Cystic artery pseudoaneurysm	5	CL E G H
HP:0002012	HP:0030986	Biliary epithelial hyperplasia	5	CL E G H
HP:0002012	HP:0031015	Intrahepatic portal vein sclerosis	5	CL E G H
HP:0002012	HP:0031143	Decreased hepatic echogenicity	5	CL E G H
HP:0002012	HP:0031942	Congenital absence of portal vein	5	CL E G H
HP:0002012	HP:0032023	Eosinophilic gallbladder infiltration	5	CL E G H
HP:0002012	HP:0034505	Gallbladder wall thickening	5	CL E G H
HP:0002012	HP:0034506	Gallbladder enlargement	5	CL E G H
HP:0002012	HP:0034507	Gallbladder mass	5	CL E G H
HP:0002012	HP:0100762	Hemobilia	5	CL E G H
HP:0002012	HP:0001081	Cholelithiasis	5	ABCB11 CL E G H	8647	42	OMIM:605479	Cholestasis, benign recurrent intrahepatic, 2	.		146
HP:0002012	HP:0001046	Intermittent jaundice	5	ABCB11 CL E G H	8647	42	OMIM:601847	Cholestasis, progressive familial intrahepatic 2	.		146
HP:0002012	HP:0001082	Cholecystitis	5	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		146
HP:0002012	HP:0001408	Bile duct proliferation	5	ABCB4 CL E G H	5244	45	OMIM:602347	Cholestasis, progressive familial intrahepatic, 3	.		111
HP:0002012	HP:0001081	Cholelithiasis	5	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1	.		111
HP:0002012	HP:0001082	Cholecystitis	5	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1	.		111
HP:0002012	HP:0001408	Bile duct proliferation	5	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1			111
HP:0002012	HP:0030151	Cholangitis	5	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1	.		111
HP:0002012	HP:0001082	Cholecystitis	5	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		111
HP:0002012	HP:0001081	Cholelithiasis	5	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040282 - Frequent		111
HP:0002012	HP:0001082	Cholecystitis	5	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040283 - Occasional		111
HP:0002012	HP:0002613	Biliary cirrhosis	5	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040284 - Very rare		111
HP:0002012	HP:0005230	Biliary tract obstruction	5	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040283 - Occasional		111
HP:0002012	HP:0030151	Cholangitis	5	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040283 - Occasional		111
HP:0002012	HP:0004510	Pancreatic islet-cell hyperplasia	5	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency			245
HP:0002012	HP:0004510	Pancreatic islet-cell hyperplasia	5	ABCC8 CL E G H	6833	59	OMIM:256450	Hyperinsulinemic hypoglycemia, familial, 1	.		245
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional		245
HP:0002012	HP:0006274	Reduced pancreatic beta cells	5	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		245
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	ABCC8 CL E G H	6833	59	ORPHA:552	MODY	HP:0040284 - Very rare		245
HP:0002012	HP:0001397	Hepatic steatosis	5	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent		67
HP:0002012	HP:0001081	Cholelithiasis	5	ABCG8 CL E G H	64241	13887	OMIM:611465	GALLBLADDER DISEASE 4; GBD4			76
HP:0002012	HP:0001397	Hepatic steatosis	5	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent		76
HP:0002012	HP:0001397	Hepatic steatosis	5	ABHD5 CL E G H	51099	21396	OMIM:275630	Chanarin-Dorfman syndrome	.		90
HP:0002012	HP:0001397	Hepatic steatosis	5	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent		90
HP:0002012	HP:0001397	Hepatic steatosis	5	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040282 - Frequent		98
HP:0002012	HP:0001397	Hepatic steatosis	5	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency			98
HP:0002012	HP:0001397	Hepatic steatosis	5	ACADM CL E G H	34	89	OMIM:201450	Acyl-Coa dehydrogenase, medium-chain, deficiency of	.		197
HP:0002012	HP:0001397	Hepatic steatosis	5	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		197
HP:0002012	HP:0001397	Hepatic steatosis	5	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		90
HP:0002012	HP:0001397	Hepatic steatosis	5	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0002012	HP:0001397	Hepatic steatosis	5	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency			120
HP:0002012	HP:0001081	Cholelithiasis	5	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		178
HP:0002012	HP:0001082	Cholecystitis	5	ACVRL1 CL E G H	94	175	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent		178
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	ADAMTS13 CL E G H	11093	1366	OMIM:274150	Thrombotic thrombocytopenic purpura, hereditary	.		129
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		116
HP:0002012	HP:0001397	Hepatic steatosis	5	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	.		26
HP:0002012	HP:0001397	Hepatic steatosis	5	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		85
HP:0002012	HP:0001397	Hepatic steatosis	5	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	.		85
HP:0002012	HP:0001081	Cholelithiasis	5	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0002012	HP:0200120	Chronic active hepatitis	5	AIRE CL E G H	326	360	OMIM:240300	AUTOIMMUNE POLYENDOCRINE SYNDROME, TYPE I, WITH OR WITHOUT REVERSIBLE METAPHYSEAL DYSPLASIA; APS1			92
HP:0002012	HP:0001397	Hepatic steatosis	5	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2			62
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2			62
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	AKR1D1 CL E G H	6718	388	ORPHA:79303	Congenital bile acid synthesis defect type 2			62
HP:0002012	HP:0001397	Hepatic steatosis	5	AKT2 CL E G H	208	392	ORPHA:79085	AKT2-related familial partial lipodystrophy	HP:0040281 - Very frequent		12
HP:0002012	HP:0001081	Cholelithiasis	5	ALAS2 CL E G H	212	397	OMIM:300752	Protoporphyria, erythropoietic, X-linked	HP:0040283 - Occasional		72
HP:0002012	HP:0001081	Cholelithiasis	5	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII	.		50
HP:0002012	HP:0001082	Cholecystitis	5	ALDOA CL E G H	226	414	OMIM:611881	Glycogen storage disease XII	.		50
HP:0002012	HP:0001397	Hepatic steatosis	5	ALDOB CL E G H	229	417	OMIM:229600	Fructose intolerance, hereditary	.		73
HP:0002012	HP:0001397	Hepatic steatosis	5	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0002012	HP:0001397	Hepatic steatosis	5	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0002012	HP:0200120	Chronic active hepatitis	5	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.		404
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	AMACR CL E G H	23600	451	OMIM:214950	Bile acid synthesis defect, congenital, 4	.		44
HP:0002012	HP:0001081	Cholelithiasis	5	AMACR CL E G H	23600	451	ORPHA:79095	Congenital bile acid synthesis defect type 4			44
HP:0002012	HP:0001081	Cholelithiasis	5	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		150
HP:0002012	HP:0001081	Cholelithiasis	5	ANK1 CL E G H	286	492	OMIM:182900	Spherocytosis, type 1	.		150
HP:0002012	HP:0006572	Subacute progressive viral hepatitis	5	APC CL E G H	324	583	OMIM:114550	Hepatocellular carcinoma	.		3179
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		1
HP:0002012	HP:0001397	Hepatic steatosis	5	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent		356
HP:0002012	HP:0001397	Hepatic steatosis	5	APOE CL E G H	348	613	ORPHA:412	Dysbetalipoproteinemia	HP:0040282 - Frequent		39
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	APPL1 CL E G H	26060	24035	ORPHA:552	MODY	HP:0040284 - Very rare		2
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	ARL13B CL E G H	200894	25419	OMIM:612291	JOUBERT SYNDROME 8; JBTS8			62
HP:0002012	HP:0001397	Hepatic steatosis	5	ARMC5 CL E G H	79798	25781	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			7
HP:0002012	HP:0001082	Cholecystitis	5	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.		253
HP:0002012	HP:0005609	Gallbladder dysfunction	5	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.		253
HP:0002012	HP:0001082	Cholecystitis	5	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional		253
HP:0002012	HP:0100575	Neoplasm of the gallbladder	5	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040284 - Very rare		253
HP:0002012	HP:0100574	Biliary tract neoplasm	5	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0002012	HP:0001082	Cholecystitis	5	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional		253
HP:0002012	HP:0001082	Cholecystitis	5	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional		253
HP:0002012	HP:0001081	Cholelithiasis	5	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0002012	HP:0006575	Intrahepatic cholestasis with episodic jaundice	5	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040284 - Very rare		78
HP:0002012	HP:0001081	Cholelithiasis	5	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040284 - Very rare		145
HP:0002012	HP:0001397	Hepatic steatosis	5	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	ATP6AP1 CL E G H	537	868	OMIM:300972	IMMUNODEFICIENCY 47; IMD47			5
HP:0002012	HP:0001397	Hepatic steatosis	5	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R			36
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	ATP7A CL E G H	538	869	ORPHA:565	Menkes disease	HP:0040282 - Frequent		192
HP:0002012	HP:0001397	Hepatic steatosis	5	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease			315
HP:0002012	HP:0001397	Hepatic steatosis	5	ATP7B CL E G H	540	870	ORPHA:905	Wilson disease	HP:0040281 - Very frequent		315
HP:0002012	HP:0001046	Intermittent jaundice	5	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1	.		144
HP:0002012	HP:0006575	Intrahepatic cholestasis with episodic jaundice	5	ATP8B1 CL E G H	5205	3706	OMIM:243300	Cholestasis, benign recurrent intrahepatic 1	.		144
HP:0002012	HP:0001081	Cholelithiasis	5	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1			144
HP:0002012	HP:0006575	Intrahepatic cholestasis with episodic jaundice	5	ATP8B1 CL E G H	5205	3706	OMIM:211600	Cholestasis, progressive familial intrahepatic 1	.		144
HP:0002012	HP:0001082	Cholecystitis	5	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		144
HP:0002012	HP:0006572	Subacute progressive viral hepatitis	5	AXIN1 CL E G H	8312	903	OMIM:114550	Hepatocellular carcinoma	.		3
HP:0002012	HP:0034504	Septate gallbladder	5	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0002012	HP:0001081	Cholelithiasis	5	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001081	Cholelithiasis	5	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001397	Hepatic steatosis	5	BCS1L CL E G H	617	1020	ORPHA:53693	GRACILE syndrome	HP:0040281 - Very frequent		72
HP:0002012	HP:0001397	Hepatic steatosis	5	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0002012	HP:0030151	Cholangitis	5	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.		72
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	BLK CL E G H	640	1057	ORPHA:552	MODY	HP:0040284 - Very rare		75
HP:0002012	HP:0001397	Hepatic steatosis	5	BLM CL E G H	641	1058	OMIM:210900	Bloom syndrome			314
HP:0002012	HP:0001081	Cholelithiasis	5	BLVRA CL E G H	644	1062	OMIM:614156	Hyperbiliverdinemia	.		2
HP:0002012	HP:0100574	Biliary tract neoplasm	5	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0002012	HP:0100574	Biliary tract neoplasm	5	BRCA1 CL E G H	672	1100	ORPHA:70567	Cholangiocarcinoma	HP:0040281 - Very frequent		5769
HP:0002012	HP:0100574	Biliary tract neoplasm	5	BRCA2 CL E G H	675	1101	ORPHA:70567	Cholangiocarcinoma	HP:0040281 - Very frequent		7642
HP:0002012	HP:0001397	Hepatic steatosis	5	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		105
HP:0002012	HP:0001397	Hepatic steatosis	5	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.		105
HP:0002012	HP:0001397	Hepatic steatosis	5	BSCL2 CL E G H	26580	15832	ORPHA:363400	Severe neurodegenerative syndrome with lipodystrophy	HP:0040282 - Frequent		105
HP:0002012	HP:0001412	Enteroviral hepatitis	5	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked	.		109
HP:0002012	HP:0001412	Enteroviral hepatitis	5	BTK CL E G H	695	1133	OMIM:307200	Isolated growth hormone deficiency, type III, with agammaglobulinemia	.		109
HP:0002012	HP:0001081	Cholelithiasis	5	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002012	HP:0200120	Chronic active hepatitis	5	C4B CL E G H	721	1324	OMIM:614379	Complement component 4B deficiency	.		1
HP:0002012	HP:0001082	Cholecystitis	5	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional		1
HP:0002012	HP:0001397	Hepatic steatosis	5	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27			35
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	CASK CL E G H	8573	1497	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			118
HP:0002012	HP:0006572	Subacute progressive viral hepatitis	5	CASP8 CL E G H	841	1509	OMIM:114550	Hepatocellular carcinoma	.		37
HP:0002012	HP:0001397	Hepatic steatosis	5	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0002012	HP:0001397	Hepatic steatosis	5	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		11
HP:0002012	HP:0001397	Hepatic steatosis	5	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3			11
HP:0002012	HP:0001397	Hepatic steatosis	5	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		48
HP:0002012	HP:0001397	Hepatic steatosis	5	CAVIN1 CL E G H	284119	9688	OMIM:613327	Lipodystrophy, congenital generalized, type 4	.		48
HP:0002012	HP:0001397	Hepatic steatosis	5	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency	.		242
HP:0002012	HP:0005912	Biliary atresia	5	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0002012	HP:0001408	Bile duct proliferation	5	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6	.		247
HP:0002012	HP:0011466	Aplasia/Hypoplasia of the gallbladder	5	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6			247
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO	.		3
HP:0002012	HP:0001081	Cholelithiasis	5	CCDC47 CL E G H	57003	24856	OMIM:618268	Trichohepatoneurodevelopmental syndrome	HP:0040284 - Very rare
HP:0002012	HP:0008261	Pancreatic islet cell adenoma	5	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		1
HP:0002012	HP:0030151	Cholangitis	5	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia	.		86
HP:0002012	HP:0008261	Pancreatic islet cell adenoma	5	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1			2
HP:0002012	HP:0008261	Pancreatic islet cell adenoma	5	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1			102
HP:0002012	HP:0008261	Pancreatic islet cell adenoma	5	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4			102
HP:0002012	HP:0008261	Pancreatic islet cell adenoma	5	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1			1
HP:0002012	HP:0008261	Pancreatic islet cell adenoma	5	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	CEL CL E G H	1056	1848	ORPHA:552	MODY	HP:0040284 - Very rare		25
HP:0002012	HP:0001397	Hepatic steatosis	5	CEP19 CL E G H	84984	28209	OMIM:615703	Morbid obesity and spermatogenic failure			1
HP:0002012	HP:0001408	Bile duct proliferation	5	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4	.		342
HP:0002012	HP:0002613	Biliary cirrhosis	5	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis	.		1371
HP:0002012	HP:0001397	Hepatic steatosis	5	CIDEC CL E G H	63924	24229	ORPHA:435651	CIDEC-related familial partial lipodystrophy	HP:0040281 - Very frequent		8
HP:0002012	HP:0001397	Hepatic steatosis	5	CIDEC CL E G H	63924	24229	OMIM:615238	Lipodystrophy, familial partial, type 5	.		8
HP:0002012	HP:0030151	Cholangitis	5	CIITA CL E G H	4261	7067	OMIM:209920	Bare lymphocyte syndrome, type II	.		118
HP:0002012	HP:0200124	Chronic hepatitis due to cryptosporidium infection	5	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent		118
HP:0002012	HP:0030151	Cholangitis	5	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II			118
HP:0002012	HP:0030151	Cholangitis	5	CLDN1 CL E G H	9076	2032	OMIM:607626	Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis	.		11
HP:0002012	HP:0001081	Cholelithiasis	5	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001397	Hepatic steatosis	5	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040283 - Occasional		38
HP:0002012	HP:0001397	Hepatic steatosis	5	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0002012	HP:0100801	Pancreatic aplasia	5	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040282 - Frequent		2
HP:0002012	HP:0011466	Aplasia/Hypoplasia of the gallbladder	5	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome			2
HP:0002012	HP:0001397	Hepatic steatosis	5	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0002012	HP:0001081	Cholelithiasis	5	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0002012	HP:0001397	Hepatic steatosis	5	COX15 CL E G H	1355	2263	OMIM:615119	Mitochondrial complex IV deficiency, nuclear type 6	.		104
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	CPOX CL E G H	1371	2321	OMIM:618892	Harderoporphyria	.		72
HP:0002012	HP:0001397	Hepatic steatosis	5	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency	.		99
HP:0002012	HP:0001397	Hepatic steatosis	5	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040283 - Occasional		101
HP:0002012	HP:0001397	Hepatic steatosis	5	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040283 - Occasional		101
HP:0002012	HP:0001397	Hepatic steatosis	5	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile			101
HP:0002012	HP:0001397	Hepatic steatosis	5	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional		20
HP:0002012	HP:0006572	Subacute progressive viral hepatitis	5	CTNNB1 CL E G H	1499	2514	OMIM:114550	Hepatocellular carcinoma	.		88
HP:0002012	HP:0001397	Hepatic steatosis	5	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040282 - Frequent		60
HP:0002012	HP:0001081	Cholelithiasis	5	CYP27A1 CL E G H	1593	2605	OMIM:213700	Cerebrotendinous xanthomatosis			114
HP:0002012	HP:0001081	Cholelithiasis	5	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional		114
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional		114
HP:0002012	HP:0001081	Cholelithiasis	5	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency			11
HP:0002012	HP:0001397	Hepatic steatosis	5	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0040281 - Very frequent		11
HP:0002012	HP:0001408	Bile duct proliferation	5	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3			57
HP:0002012	HP:0034294	Ductal bile plugs	5	CYP7B1 CL E G H	9420	2652	OMIM:613812	Bile acid synthesis defect, congenital, 3			57
HP:0002012	HP:0001408	Bile duct proliferation	5	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3			57
HP:0002012	HP:0001408	Bile duct proliferation	5	DCDC2 CL E G H	51473	18141	OMIM:616217	Nephronophthisis 19	.		8
HP:0002012	HP:0001408	Bile duct proliferation	5	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal			8
HP:0002012	HP:0034294	Ductal bile plugs	5	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal			8
HP:0002012	HP:0002613	Biliary cirrhosis	5	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal	.		8
HP:0002012	HP:0030151	Cholangitis	5	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal			8
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0002012	HP:0001397	Hepatic steatosis	5	DDOST CL E G H	1650	2728	ORPHA:300536	DDOST-CDG	HP:0040281 - Very frequent		62
HP:0002012	HP:0001397	Hepatic steatosis	5	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0002012	HP:0001397	Hepatic steatosis	5	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.		57
HP:0002012	HP:0001397	Hepatic steatosis	5	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0002012	HP:0004510	Pancreatic islet-cell hyperplasia	5	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.		164
HP:0002012	HP:0001081	Cholelithiasis	5	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1	.		152
HP:0002012	HP:0001397	Hepatic steatosis	5	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V			25
HP:0002012	HP:0001397	Hepatic steatosis	5	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent		5
HP:0002012	HP:0001081	Cholelithiasis	5	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001397	Hepatic steatosis	5	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40			6
HP:0002012	HP:0001397	Hepatic steatosis	5	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional		27
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	DUOX2 CL E G H	50506	13273	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		121
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism	HP:0040283 - Occasional		121
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	DUOXA2 CL E G H	405753	32698	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		11
HP:0002012	HP:0100574	Biliary tract neoplasm	5	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0002012	HP:0006560	Biliary hyperplasia	5	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		4
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		4
HP:0002012	HP:0030151	Cholangitis	5	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional		4
HP:0002012	HP:0001397	Hepatic steatosis	5	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12			80
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent		1
HP:0002012	HP:0006274	Reduced pancreatic beta cells	5	EIF2AK3 CL E G H	9451	3255	OMIM:226980	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	.		65
HP:0002012	HP:0001081	Cholelithiasis	5	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001081	Cholelithiasis	5	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0002012	HP:0001081	Cholelithiasis	5	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		186
HP:0002012	HP:0001082	Cholecystitis	5	ENG CL E G H	2022	3349	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent		186
HP:0002012	HP:0001081	Cholelithiasis	5	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		6
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		6
HP:0002012	HP:0001081	Cholelithiasis	5	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		51
HP:0002012	HP:0005912	Biliary atresia	5	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q	.		158
HP:0002012	HP:0001397	Hepatic steatosis	5	ETFA CL E G H	2108	3481	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		37
HP:0002012	HP:0001397	Hepatic steatosis	5	ETFB CL E G H	2109	3482	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		27
HP:0002012	HP:0001397	Hepatic steatosis	5	ETFDH CL E G H	2110	3483	OMIM:231680	Multiple acyl-coa dehydrogenase deficiency	.		77
HP:0002012	HP:0001082	Cholecystitis	5	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional		159
HP:0002012	HP:0004510	Pancreatic islet-cell hyperplasia	5	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.		107
HP:0002012	HP:0001397	Hepatic steatosis	5	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0002012	HP:0001397	Hepatic steatosis	5	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002012	HP:0001408	Bile duct proliferation	5	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0002012	HP:0001397	Hepatic steatosis	5	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional		64
HP:0002012	HP:0002613	Biliary cirrhosis	5	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis	.		6
HP:0002012	HP:0001081	Cholelithiasis	5	FECH CL E G H	2235	3647	ORPHA:79278	Autosomal erythropoietic protoporphyria	HP:0040283 - Occasional		145
HP:0002012	HP:0001081	Cholelithiasis	5	FECH CL E G H	2235	3647	OMIM:177000	Protoporphyria, erythropoietic, 1	.		145
HP:0002012	HP:0001081	Cholelithiasis	5	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001397	Hepatic steatosis	5	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0006560	Biliary hyperplasia	5	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0002012	HP:0001397	Hepatic steatosis	5	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0002012	HP:0011466	Aplasia/Hypoplasia of the gallbladder	5	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	G6PD CL E G H	2539	4057	OMIM:300908	Anemia, nonspherocytic hemolytic, due to g6pd deficiency			101
HP:0002012	HP:0001397	Hepatic steatosis	5	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	GALK1 CL E G H	2584	4118	OMIM:230200	Galactokinase deficiency	.		23
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	GALM CL E G H	130589	24063	OMIM:618881	GALACTOSEMIA IV; GALAC4
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects	.		37
HP:0002012	HP:0005912	Biliary atresia	5	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0002012	HP:0011466	Aplasia/Hypoplasia of the gallbladder	5	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0002012	HP:0100801	Pancreatic aplasia	5	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040282 - Frequent		37
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040282 - Frequent		37
HP:0002012	HP:0005912	Biliary atresia	5	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040284 - Very rare		37
HP:0002012	HP:0011466	Aplasia/Hypoplasia of the gallbladder	5	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040284 - Very rare		37
HP:0002012	HP:0005230	Biliary tract obstruction	5	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional
HP:0002012	HP:0001081	Cholelithiasis	5	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0002012	HP:0001081	Cholelithiasis	5	GCGR CL E G H	2642	4192	ORPHA:438274	GCGR-related hyperglucagonemia	HP:0040282 - Frequent		1
HP:0002012	HP:0004510	Pancreatic islet-cell hyperplasia	5	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH			1
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional		237
HP:0002012	HP:0006274	Reduced pancreatic beta cells	5	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		237
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	GCK CL E G H	2645	4195	ORPHA:552	MODY	HP:0040284 - Very rare		237
HP:0002012	HP:0001081	Cholelithiasis	5	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		8
HP:0002012	HP:0001082	Cholecystitis	5	GDF2 CL E G H	2658	4217	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent		8
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	GH1 CL E G H	2688	4261	OMIM:262400	Growth hormone deficiency, isolated, type IA			50
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	GLIS3 CL E G H	169792	28510	OMIM:610199	Diabetes mellitus, neonatal, with congenital hypothyroidism	HP:0040283 - Occasional		143
HP:0002012	HP:0001397	Hepatic steatosis	5	GNAS CL E G H	2778	4392	ORPHA:189427	Cushing syndrome due to macronodular adrenal hyperplasia			101
HP:0002012	HP:0001397	Hepatic steatosis	5	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002012	HP:0001081	Cholelithiasis	5	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent		173
HP:0002012	HP:0001081	Cholelithiasis	5	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0002012	HP:0004510	Pancreatic islet-cell hyperplasia	5	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional		73
HP:0002012	HP:0004510	Pancreatic islet-cell hyperplasia	5	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0002012	HP:0004510	Pancreatic islet-cell hyperplasia	5	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0002012	HP:0004510	Pancreatic islet-cell hyperplasia	5	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002012	HP:0001397	Hepatic steatosis	5	GPD1 CL E G H	2819	4455	OMIM:614480	Hypertriglyceridemia, transient infantile	.		3
HP:0002012	HP:0001081	Cholelithiasis	5	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency	.		12
HP:0002012	HP:0001082	Cholecystitis	5	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency	.		12
HP:0002012	HP:0001081	Cholelithiasis	5	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		2
HP:0002012	HP:0100575	Neoplasm of the gallbladder	5	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040284 - Very rare		2
HP:0002012	HP:0100574	Biliary tract neoplasm	5	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis			2
HP:0002012	HP:0001081	Cholelithiasis	5	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0002012	HP:0001081	Cholelithiasis	5	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0002012	HP:0001081	Cholelithiasis	5	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0002012	HP:0001081	Cholelithiasis	5	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		5
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		5
HP:0002012	HP:0001397	Hepatic steatosis	5	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency	.		41
HP:0002012	HP:0001397	Hepatic steatosis	5	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040281 - Very frequent		41
HP:0002012	HP:0001397	Hepatic steatosis	5	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0002012	HP:0001397	Hepatic steatosis	5	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0002012	HP:0001081	Cholelithiasis	5	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040283 - Occasional		580
HP:0002012	HP:0001081	Cholelithiasis	5	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia			580
HP:0002012	HP:0001081	Cholelithiasis	5	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia	.		580
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	HESX1 CL E G H	8820	4877	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		21
HP:0002012	HP:0100574	Biliary tract neoplasm	5	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0002012	HP:0001081	Cholelithiasis	5	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0002012	HP:0001081	Cholelithiasis	5	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency	.		11
HP:0002012	HP:0001082	Cholecystitis	5	HK1 CL E G H	3098	4922	OMIM:235700	Hemolytic anemia, nonspherocytic, due to hexokinase deficiency	.		11
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	HNF1A CL E G H	6927	11621	ORPHA:552	MODY	HP:0040284 - Very rare		161
HP:0002012	HP:0100801	Pancreatic aplasia	5	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional		90
HP:0002012	HP:0001397	Hepatic steatosis	5	HNF1B CL E G H	6928	11630	ORPHA:93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	HP:0040283 - Occasional		90
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	HNF1B CL E G H	6928	11630	OMIM:137920	Renal cysts and diabetes syndrome			90
HP:0002012	HP:0004510	Pancreatic islet-cell hyperplasia	5	HNF4A CL E G H	3172	5024	ORPHA:263455	Hyperinsulinism due to HNF4A deficiency	HP:0040281 - Very frequent		138
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	HNF4A CL E G H	3172	5024	ORPHA:552	MODY	HP:0040284 - Very rare		138
HP:0002012	HP:0001397	Hepatic steatosis	5	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional		31
HP:0002012	HP:0001397	Hepatic steatosis	5	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional		5
HP:0002012	HP:0001397	Hepatic steatosis	5	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0002012	HP:0001408	Bile duct proliferation	5	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0002012	HP:0006566	Neonatal cholestatic liver disease	5	HSD3B7 CL E G H	80270	18324	ORPHA:79301	Congenital bile acid synthesis defect type 1	HP:0040281 - Very frequent		26
HP:0002012	HP:0001397	Hepatic steatosis	5	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	HYOU1 CL E G H	10525	16931	OMIM:233600	Immunodeficiency 59 and hypoglycemia
HP:0002012	HP:0001397	Hepatic steatosis	5	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040282 - Frequent
HP:0002012	HP:0001397	Hepatic steatosis	5	IARS1 CL E G H	3376	5330	OMIM:617093	Growth retardation, impaired intellectual development, hypotonia, and hepatopathy	HP:0040283 - Occasional
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		28
HP:0002012	HP:0001397	Hepatic steatosis	5	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0002012	HP:0030151	Cholangitis	5	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly			148
HP:0002012	HP:0006572	Subacute progressive viral hepatitis	5	IGF2R CL E G H	3482	5467	OMIM:114550	Hepatocellular carcinoma	.		4
HP:0002012	HP:0001082	Cholecystitis	5	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0002012	HP:0030151	Cholangitis	5	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0002012	HP:0001082	Cholecystitis	5	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0002012	HP:0030151	Cholangitis	5	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0002012	HP:0002613	Biliary cirrhosis	5	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002012	HP:0002613	Biliary cirrhosis	5	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent		46
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent		46
HP:0002012	HP:0200124	Chronic hepatitis due to cryptosporidium infection	5	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56			7
HP:0002012	HP:0030151	Cholangitis	5	IL21R CL E G H	50615	6006	OMIM:615207	IMMUNODEFICIENCY 56; IMD56			7
HP:0002012	HP:0030151	Cholangitis	5	IL36RN CL E G H	26525	15561	OMIM:614204	PSORIASIS 14, PUSTULAR; PSORS14			51
HP:0002012	HP:0005912	Biliary atresia	5	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional		62
HP:0002012	HP:0006274	Reduced pancreatic beta cells	5	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		62
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	INS CL E G H	3630	6081	ORPHA:552	MODY	HP:0040284 - Very rare		62
HP:0002012	HP:0004510	Pancreatic islet-cell hyperplasia	5	INSR CL E G H	3643	6091	OMIM:246200	Donohue syndrome	.		229
HP:0002012	HP:0011466	Aplasia/Hypoplasia of the gallbladder	5	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0002012	HP:0002613	Biliary cirrhosis	5	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent		4
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent		4
HP:0002012	HP:0030151	Cholangitis	5	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040283 - Occasional		3
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	IYD CL E G H	389434	21071	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		130
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.		257
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0002012	HP:0001082	Cholecystitis	5	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome	HP:0040283 - Occasional		57
HP:0002012	HP:0001081	Cholelithiasis	5	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0002012	HP:0001397	Hepatic steatosis	5	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0002012	HP:0004510	Pancreatic islet-cell hyperplasia	5	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency			127
HP:0002012	HP:0004510	Pancreatic islet-cell hyperplasia	5	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0002012	HP:0008261	Pancreatic islet cell adenoma	5	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0002012	HP:0004510	Pancreatic islet-cell hyperplasia	5	KCNJ11 CL E G H	3767	6257	OMIM:601820	Hyperinsulinemic hypoglycemia, familial, 2	.		127
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional		127
HP:0002012	HP:0006274	Reduced pancreatic beta cells	5	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		127
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	KCNJ11 CL E G H	3767	6257	ORPHA:552	MODY	HP:0040284 - Very rare		127
HP:0002012	HP:0001046	Intermittent jaundice	5	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional		3
HP:0002012	HP:0001081	Cholelithiasis	5	KCNN4 CL E G H	3783	6293	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent		3
HP:0002012	HP:0001081	Cholelithiasis	5	KDM5C CL E G H	8242	11114	OMIM:300534	Mental retardation, X-linked, syndromic, Claes-Jensen type			81
HP:0002012	HP:0001408	Bile duct proliferation	5	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8			1
HP:0002012	HP:0030151	Cholangitis	5	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8			1
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	KLF11 CL E G H	8462	11811	ORPHA:552	MODY	HP:0040284 - Very rare		78
HP:0002012	HP:0001397	Hepatic steatosis	5	KMT2B CL E G H	9757	15840	OMIM:619934				11
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	KMT2E CL E G H	55904	18541	OMIM:618512	O'donnell-Luria-Rodan syndrome	.		1
HP:0002012	HP:0002613	Biliary cirrhosis	5	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial			19
HP:0002012	HP:0001397	Hepatic steatosis	5	LARS1 CL E G H	51520	6512	OMIM:615438	Infantile liver failure syndrome 1	.
HP:0002012	HP:0004510	Pancreatic islet-cell hyperplasia	5	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0002012	HP:0002613	Biliary cirrhosis	5	LBR CL E G H	3930	6518	OMIM:613471	Reynolds syndrome	.		70
HP:0002012	HP:0001397	Hepatic steatosis	5	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent		2157
HP:0002012	HP:0001397	Hepatic steatosis	5	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent		73
HP:0002012	HP:0100801	Pancreatic aplasia	5	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	LHX3 CL E G H	8022	6595	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		51
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	LHX4 CL E G H	89884	21734	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		43
HP:0002012	HP:0001397	Hepatic steatosis	5	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0002012	HP:0001081	Cholelithiasis	5	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001397	Hepatic steatosis	5	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0002012	HP:0031141	Increased hepatic echogenicity	5	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency			73
HP:0002012	HP:0001397	Hepatic steatosis	5	LIPE CL E G H	3991	6621	ORPHA:435660	LIPE-related familial partial lipodystrophy	HP:0040281 - Very frequent		7
HP:0002012	HP:0001397	Hepatic steatosis	5	LIPE CL E G H	3991	6621	OMIM:615980	Lipodystrophy, familial partial, type 6	.		7
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF			46
HP:0002012	HP:0001397	Hepatic steatosis	5	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0002012	HP:0001397	Hepatic steatosis	5	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040282 - Frequent		645
HP:0002012	HP:0001397	Hepatic steatosis	5	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040283 - Occasional		645
HP:0002012	HP:0001397	Hepatic steatosis	5	LMNA CL E G H	4000	6636	ORPHA:79084	Familial partial lipodystrophy, Köbberling type	HP:0040282 - Frequent		645
HP:0002012	HP:0001397	Hepatic steatosis	5	LMNA CL E G H	4000	6636	OMIM:151660	Lipodystrophy, familial partial, type 2	.		645
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent		645
HP:0002012	HP:0001397	Hepatic steatosis	5	LMNB2 CL E G H	84823	6638	ORPHA:79087	Acquired partial lipodystrophy	HP:0040283 - Occasional		11
HP:0002012	HP:0005912	Biliary atresia	5	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0002012	HP:0001397	Hepatic steatosis	5	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040282 - Frequent		191
HP:0002012	HP:0001397	Hepatic steatosis	5	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0002012	HP:0006565	Increased hepatocellular lipid droplets	5	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.		191
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001397	Hepatic steatosis	5	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001397	Hepatic steatosis	5	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19	.		4
HP:0002012	HP:0008261	Pancreatic islet cell adenoma	5	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus
HP:0002012	HP:0001397	Hepatic steatosis	5	MARS1 CL E G H	4141	6898	OMIM:615486	Interstitial lung and liver disease	.
HP:0002012	HP:0001397	Hepatic steatosis	5	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency			81
HP:0002012	HP:0001082	Cholecystitis	5	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome	HP:0040283 - Occasional		950
HP:0002012	HP:0001408	Bile duct proliferation	5	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0002012	HP:0030151	Cholangitis	5	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0002012	HP:0001081	Cholelithiasis	5	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional		43
HP:0002012	HP:0008261	Pancreatic islet cell adenoma	5	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1	.		462
HP:0002012	HP:0008261	Pancreatic islet cell adenoma	5	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1			462
HP:0002012	HP:0006572	Subacute progressive viral hepatitis	5	MET CL E G H	4233	7029	OMIM:114550	Hepatocellular carcinoma	.		375
HP:0002012	HP:0001081	Cholelithiasis	5	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0002012	HP:0001397	Hepatic steatosis	5	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0002012	HP:0001408	Bile duct proliferation	5	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0002012	HP:0001408	Bile duct proliferation	5	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.		127
HP:0002012	HP:0001081	Cholelithiasis	5	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0002012	HP:0002613	Biliary cirrhosis	5	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002012	HP:0001397	Hepatic steatosis	5	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001397	Hepatic steatosis	5	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE			56
HP:0002012	HP:0001397	Hepatic steatosis	5	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy			56
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.		56
HP:0002012	HP:0001397	Hepatic steatosis	5	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0002012	HP:0001397	Hepatic steatosis	5	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16			13
HP:0002012	HP:0001397	Hepatic steatosis	5	MRPS7 CL E G H	51081	14499	OMIM:617872	Combined oxidative phosphorylation deficiency 34	.		12
HP:0002012	HP:0001081	Cholelithiasis	5	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		1
HP:0002012	HP:0100575	Neoplasm of the gallbladder	5	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040284 - Very rare		1
HP:0002012	HP:0100574	Biliary tract neoplasm	5	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis			1
HP:0002012	HP:0001397	Hepatic steatosis	5	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040283 - Occasional		81
HP:0002012	HP:0001397	Hepatic steatosis	5	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0002012	HP:0001397	Hepatic steatosis	5	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0002012	HP:0001081	Cholelithiasis	5	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0002012	HP:0001397	Hepatic steatosis	5	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11			40
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	NEUROD1 CL E G H	4760	7762	ORPHA:552	MODY	HP:0040284 - Very rare		32
HP:0002012	HP:0001397	Hepatic steatosis	5	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52			5
HP:0002012	HP:0001397	Hepatic steatosis	5	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0002012	HP:0001397	Hepatic steatosis	5	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1	.		258
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.		33
HP:0002012	HP:0001408	Bile duct proliferation	5	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0002012	HP:0002613	Biliary cirrhosis	5	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0002012	HP:0001408	Bile duct proliferation	5	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.		157
HP:0002012	HP:0002613	Biliary cirrhosis	5	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.		157
HP:0002012	HP:0001082	Cholecystitis	5	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		14
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		544
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0002012	HP:0001397	Hepatic steatosis	5	NSMCE2 CL E G H	286053	26513	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040281 - Very frequent		2
HP:0002012	HP:0001397	Hepatic steatosis	5	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10			2
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0002012	HP:0006279	Beta-cell dysfunction	5	PAX4 CL E G H	5078	8618	OMIM:612227	Diabetes mellitus, ketosis-prone	.		55
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	PAX4 CL E G H	5078	8618	ORPHA:552	MODY	HP:0040284 - Very rare		55
HP:0002012	HP:0001397	Hepatic steatosis	5	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic	.		53
HP:0002012	HP:0031141	Increased hepatic echogenicity	5	PCK1 CL E G H	5105	8724	OMIM:261680	Phosphoenolpyruvate carboxykinase deficiency, cytosolic			53
HP:0002012	HP:0001397	Hepatic steatosis	5	PCK2 CL E G H	5106	8725	OMIM:261650	Phosphoenolpyruvate carboxykinase 2, mitochondrial	.		6
HP:0002012	HP:0001397	Hepatic steatosis	5	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent		178
HP:0002012	HP:0001397	Hepatic steatosis	5	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0002012	HP:0001397	Hepatic steatosis	5	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0002012	HP:0006572	Subacute progressive viral hepatitis	5	PDGFRL CL E G H	5157	8805	OMIM:114550	Hepatocellular carcinoma	.		2
HP:0002012	HP:0001397	Hepatic steatosis	5	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional		30
HP:0002012	HP:0006274	Reduced pancreatic beta cells	5	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		30
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	PDX1 CL E G H	3651	6107	ORPHA:552	MODY	HP:0040284 - Very rare		30
HP:0002012	HP:0100801	Pancreatic aplasia	5	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital			30
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital	.		30
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	PEPD CL E G H	5184	8840	OMIM:170100	Prolidase deficiency			66
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.		169
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	PEX10 CL E G H	5192	8851	OMIM:614871	Peroxisome biogenesis disorder 6B			75
HP:0002012	HP:0001081	Cholelithiasis	5	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.		62
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)			82
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)			99
HP:0002012	HP:0001081	Cholelithiasis	5	PFKM CL E G H	5213	8877	OMIM:232800	Glycogen storage disease VII	.		64
HP:0002012	HP:0001397	Hepatic steatosis	5	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0002012	HP:0001397	Hepatic steatosis	5	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional		54
HP:0002012	HP:0001397	Hepatic steatosis	5	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040283 - Occasional		48
HP:0002012	HP:0001408	Bile duct proliferation	5	PHKG2 CL E G H	5261	8931	OMIM:613027	Glycogen storage disease IXc			48
HP:0002012	HP:0100889	Abnormality of the ductus choledochus	5	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040283 - Occasional		11
HP:0002012	HP:0001046	Intermittent jaundice	5	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional		36
HP:0002012	HP:0001081	Cholelithiasis	5	PIEZO1 CL E G H	9780	28993	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent		36
HP:0002012	HP:0001081	Cholelithiasis	5	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:0002012	HP:0001397	Hepatic steatosis	5	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0002012	HP:0006572	Subacute progressive viral hepatitis	5	PIK3CA CL E G H	5290	8975	OMIM:114550	Hepatocellular carcinoma	.		162
HP:0002012	HP:0100574	Biliary tract neoplasm	5	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0002012	HP:0006560	Biliary hyperplasia	5	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		563
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		563
HP:0002012	HP:0030151	Cholangitis	5	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional		563
HP:0002012	HP:0001081	Cholelithiasis	5	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040283 - Occasional		563
HP:0002012	HP:0100574	Biliary tract neoplasm	5	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease			563
HP:0002012	HP:0002613	Biliary cirrhosis	5	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040284 - Very rare		563
HP:0002012	HP:0030151	Cholangitis	5	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040282 - Frequent		563
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency	HP:0040282 - Frequent		51
HP:0002012	HP:0001081	Cholelithiasis	5	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells	.		51
HP:0002012	HP:0001082	Cholecystitis	5	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells	.		51
HP:0002012	HP:0001397	Hepatic steatosis	5	PLIN1 CL E G H	5346	9076	OMIM:613877	Lipodystrophy, familial partial, type 4	.		19
HP:0002012	HP:0001397	Hepatic steatosis	5	PLIN1 CL E G H	5346	9076	ORPHA:280356	PLIN1-related familial partial lipodystrophy	HP:0040280 - Obligate		19
HP:0002012	HP:0001397	Hepatic steatosis	5	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.		150
HP:0002012	HP:0001397	Hepatic steatosis	5	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy	.		65
HP:0002012	HP:0001082	Cholecystitis	5	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040284 - Very rare		65
HP:0002012	HP:0001397	Hepatic steatosis	5	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040282 - Frequent		65
HP:0002012	HP:0001397	Hepatic steatosis	5	POLD1 CL E G H	5424	9175	OMIM:615381	Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome	.		731
HP:0002012	HP:0001397	Hepatic steatosis	5	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)			464
HP:0002012	HP:0001408	Bile duct proliferation	5	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.		464
HP:0002012	HP:0001397	Hepatic steatosis	5	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0002012	HP:0001397	Hepatic steatosis	5	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	POU1F1 CL E G H	5449	9210	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		36
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	POU1F1 CL E G H	5449	9210	OMIM:613038	Pituitary hormone deficiency, combined, 1	.		36
HP:0002012	HP:0002613	Biliary cirrhosis	5	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002012	HP:0001397	Hepatic steatosis	5	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		42
HP:0002012	HP:0001397	Hepatic steatosis	5	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.		42
HP:0002012	HP:0001397	Hepatic steatosis	5	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional		42
HP:0002012	HP:0001397	Hepatic steatosis	5	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0002012	HP:0001397	Hepatic steatosis	5	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0002012	HP:0001397	Hepatic steatosis	5	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0002012	HP:0001397	Hepatic steatosis	5	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	PROP1 CL E G H	5626	9455	ORPHA:226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	HP:0040282 - Frequent		54
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040283 - Occasional		49
HP:0002012	HP:0001082	Cholecystitis	5	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040283 - Occasional		81
HP:0002012	HP:0100575	Neoplasm of the gallbladder	5	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040284 - Very rare		81
HP:0002012	HP:0100574	Biliary tract neoplasm	5	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0002012	HP:0001082	Cholecystitis	5	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040283 - Occasional		81
HP:0002012	HP:0001082	Cholecystitis	5	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040283 - Occasional		81
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	PTF1A CL E G H	256297	23734	OMIM:615935	Pancreatic agenesis 2	.		22
HP:0002012	HP:0100801	Pancreatic aplasia	5	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	.		22
HP:0002012	HP:0100574	Biliary tract neoplasm	5	PTPN3 CL E G H	5774	9655	ORPHA:70567	Cholangiocarcinoma	HP:0040281 - Very frequent		1
HP:0002012	HP:0001397	Hepatic steatosis	5	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.		6
HP:0002012	HP:0005201	Anomalous splenoportal venous system	5	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.		445
HP:0002012	HP:0030151	Cholangitis	5	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92			1
HP:0002012	HP:0001397	Hepatic steatosis	5	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0002012	HP:0001081	Cholelithiasis	5	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002012	HP:0030151	Cholangitis	5	RFX5 CL E G H	5993	9986	OMIM:209920	Bare lymphocyte syndrome, type II	.		38
HP:0002012	HP:0200124	Chronic hepatitis due to cryptosporidium infection	5	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent		38
HP:0002012	HP:0030151	Cholangitis	5	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II			38
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome	.		28
HP:0002012	HP:0005912	Biliary atresia	5	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome	.		28
HP:0002012	HP:0011466	Aplasia/Hypoplasia of the gallbladder	5	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome			28
HP:0002012	HP:0030151	Cholangitis	5	RFXANK CL E G H	8625	9987	OMIM:209920	Bare lymphocyte syndrome, type II	.		26
HP:0002012	HP:0200124	Chronic hepatitis due to cryptosporidium infection	5	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent		26
HP:0002012	HP:0030151	Cholangitis	5	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II			26
HP:0002012	HP:0030151	Cholangitis	5	RFXAP CL E G H	5994	9988	OMIM:209920	Bare lymphocyte syndrome, type II	.		34
HP:0002012	HP:0200124	Chronic hepatitis due to cryptosporidium infection	5	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent		34
HP:0002012	HP:0030151	Cholangitis	5	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II			34
HP:0002012	HP:0001046	Intermittent jaundice	5	RHAG CL E G H	6005	10006	ORPHA:3203	Overhydrated hereditary stomatocytosis	HP:0040283 - Occasional		13
HP:0002012	HP:0001397	Hepatic steatosis	5	RINT1 CL E G H	60561	21876	OMIM:618641	INFANTILE LIVER FAILURE SYNDROME 3; ILFS3			99
HP:0002012	HP:0001397	Hepatic steatosis	5	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.		26
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		33
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		34
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		60
HP:0002012	HP:0100574	Biliary tract neoplasm	5	RNF43 CL E G H	54894	18505	ORPHA:157798	Serrated polyposis syndrome	HP:0040284 - Very rare		5
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001397	Hepatic steatosis	5	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002012	HP:0005912	Biliary atresia	5	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0002012	HP:0001408	Bile duct proliferation	5	RPGRIP1L CL E G H	23322	29168	OMIM:611561	Meckel syndrome, type 5	.		167
HP:0002012	HP:0001081	Cholelithiasis	5	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001397	Hepatic steatosis	5	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		55
HP:0002012	HP:0001397	Hepatic steatosis	5	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease	HP:0040283 - Occasional		8
HP:0002012	HP:0006565	Increased hepatocellular lipid droplets	5	SAR1B CL E G H	51128	10535	ORPHA:71	Chylomicron retention disease	HP:0040282 - Frequent		8
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent		26
HP:0002012	HP:0034504	Septate gallbladder	5	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0002012	HP:0005230	Biliary tract obstruction	5	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional		77
HP:0002012	HP:0001081	Cholelithiasis	5	SCNN1A CL E G H	6337	10599	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040283 - Occasional		67
HP:0002012	HP:0001081	Cholelithiasis	5	SCNN1B CL E G H	6338	10600	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040283 - Occasional		61
HP:0002012	HP:0001081	Cholelithiasis	5	SCNN1G CL E G H	6340	10602	ORPHA:171876	Generalized pseudohypoaldosteronism type 1	HP:0040283 - Occasional		57
HP:0002012	HP:0001397	Hepatic steatosis	5	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0002012	HP:0001081	Cholelithiasis	5	SEC23B CL E G H	10483	10702	OMIM:224100	Anemia, dyserythropoietic congenital, type II	.		60
HP:0002012	HP:0001081	Cholelithiasis	5	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001081	Cholelithiasis	5	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0002012	HP:0100575	Neoplasm of the gallbladder	5	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040284 - Very rare
HP:0002012	HP:0100574	Biliary tract neoplasm	5	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040282 - Frequent		60
HP:0002012	HP:0001397	Hepatic steatosis	5	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	SLC10A1 CL E G H	6554	10905	OMIM:619256	HYPERCHOLANEMIA, FAMILIAL, 2; FHCA2
HP:0002012	HP:0004510	Pancreatic islet-cell hyperplasia	5	SLC16A1 CL E G H	6566	10922	OMIM:610021	HYPERINSULINEMIC HYPOGLYCEMIA, FAMILIAL, 7; HHF7			74
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional		57
HP:0002012	HP:0001397	Hepatic steatosis	5	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.		207
HP:0002012	HP:0001397	Hepatic steatosis	5	SLC25A13 CL E G H	10165	10983	ORPHA:247585	Citrullinemia type II	HP:0040281 - Very frequent		82
HP:0002012	HP:0001397	Hepatic steatosis	5	SLC25A13 CL E G H	10165	10983	OMIM:603471	Citrullinemia, type II, adult-onset	.		82
HP:0002012	HP:0001397	Hepatic steatosis	5	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040282 - Frequent		82
HP:0002012	HP:0001397	Hepatic steatosis	5	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency			40
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome	HP:0040284 - Very rare		68
HP:0002012	HP:0001397	Hepatic steatosis	5	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0002012	HP:0001408	Bile duct proliferation	5	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0002012	HP:0031141	Increased hepatic echogenicity	5	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0002012	HP:0001397	Hepatic steatosis	5	SLC37A4 CL E G H	2542	4061	ORPHA:79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	HP:0040282 - Frequent		110
HP:0002012	HP:0001397	Hepatic steatosis	5	SLC40A1 CL E G H	30061	10909	ORPHA:139491	Hemochromatosis type 4	HP:0040282 - Frequent		56
HP:0002012	HP:0001397	Hepatic steatosis	5	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4			56
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	SLC44A1 CL E G H	23446	18798	OMIM:618868	NEURODEGENERATION, CHILDHOOD-ONSET, WITH ATAXIA, TREMOR, OPTIC ATROPHY, AND COGNITIVE DECLINE; CONATOC			1
HP:0002012	HP:0001046	Intermittent jaundice	5	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040283 - Occasional		109
HP:0002012	HP:0001081	Cholelithiasis	5	SLC4A1 CL E G H	6521	11027	ORPHA:3202	Dehydrated hereditary stomatocytosis	HP:0040282 - Frequent		109
HP:0002012	HP:0001081	Cholelithiasis	5	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		109
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	SLC5A5 CL E G H	6528	11040	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		59
HP:0002012	HP:0001046	Intermittent jaundice	5	SLCO1B1 CL E G H	10599	10959	ORPHA:3111	Rotor syndrome	HP:0040283 - Occasional		52
HP:0002012	HP:0001046	Intermittent jaundice	5	SLCO1B3 CL E G H	28234	10961	ORPHA:3111	Rotor syndrome	HP:0040283 - Occasional		60
HP:0002012	HP:0001081	Cholelithiasis	5	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040283 - Occasional		504
HP:0002012	HP:0001082	Cholecystitis	5	SMAD4 CL E G H	4089	6770	ORPHA:774	Hereditary hemorrhagic telangiectasia	HP:0040282 - Frequent		504
HP:0002012	HP:0001081	Cholelithiasis	5	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040284 - Very rare		164
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A			164
HP:0002012	HP:0011466	Aplasia/Hypoplasia of the gallbladder	5	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0002012	HP:0011466	Aplasia/Hypoplasia of the gallbladder	5	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0002012	HP:0001397	Hepatic steatosis	5	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0002012	HP:0002613	Biliary cirrhosis	5	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	SPOP CL E G H	8405	11254	OMIM:618828	NABAIS SA-DE VRIES SYNDROME, TYPE 1; NSDVS1			16
HP:0002012	HP:0001081	Cholelithiasis	5	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		228
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		228
HP:0002012	HP:0001081	Cholelithiasis	5	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		228
HP:0002012	HP:0001046	Intermittent jaundice	5	SPTB CL E G H	6710	11274	OMIM:617948	ELLIPTOCYTOSIS 3; EL3			156
HP:0002012	HP:0001081	Cholelithiasis	5	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		156
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis	HP:0040283 - Occasional		156
HP:0002012	HP:0001081	Cholelithiasis	5	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040282 - Frequent		156
HP:0002012	HP:0001397	Hepatic steatosis	5	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040282 - Frequent
HP:0002012	HP:0002594	Pancreatic hypoplasia	5	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040283 - Occasional		110
HP:0002012	HP:0006274	Reduced pancreatic beta cells	5	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040281 - Very frequent		110
HP:0002012	HP:0034352	Bile duct polyp	5	STK11 CL E G H	6794	11389	OMIM:175200	Peutz-Jeghers syndrome			740
HP:0002012	HP:0100574	Biliary tract neoplasm	5	STK11 CL E G H	6794	11389	ORPHA:2869	Peutz-Jeghers syndrome	HP:0040283 - Occasional		740
HP:0002012	HP:0001081	Cholelithiasis	5	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001397	Hepatic steatosis	5	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040282 - Frequent		60
HP:0002012	HP:0100889	Abnormality of the ductus choledochus	5	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0002012	HP:0006565	Increased hepatocellular lipid droplets	5	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.		73
HP:0002012	HP:0001397	Hepatic steatosis	5	TARS2 CL E G H	80222	30740	OMIM:615918	Combined oxidative phosphorylation deficiency 21	.		28
HP:0002012	HP:0001081	Cholelithiasis	5	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001081	Cholelithiasis	5	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0002012	HP:0001081	Cholelithiasis	5	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.		32
HP:0002012	HP:0001397	Hepatic steatosis	5	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	TBX19 CL E G H	9095	11596	ORPHA:199296	Congenital isolated ACTH deficiency	HP:0040282 - Frequent		57
HP:0002012	HP:0001081	Cholelithiasis	5	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		241
HP:0002012	HP:0100575	Neoplasm of the gallbladder	5	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040284 - Very rare		241
HP:0002012	HP:0100574	Biliary tract neoplasm	5	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis			241
HP:0002012	HP:0005912	Biliary atresia	5	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18			31
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18			31
HP:0002012	HP:0001397	Hepatic steatosis	5	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)			1
HP:0002012	HP:0001081	Cholelithiasis	5	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0002012	HP:0001082	Cholecystitis	5	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	TG CL E G H	7038	11764	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		155
HP:0002012	HP:0002613	Biliary cirrhosis	5	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis	.		13
HP:0002012	HP:0001397	Hepatic steatosis	5	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0002012	HP:0001397	Hepatic steatosis	5	TMEM199 CL E G H	147007	18085	OMIM:616829	Congenital disorder of glycosylation, type IIP			4
HP:0002012	HP:0001408	Bile duct proliferation	5	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2			45
HP:0002012	HP:0001081	Cholelithiasis	5	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0002012	HP:0001408	Bile duct proliferation	5	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.		166
HP:0002012	HP:0005912	Biliary atresia	5	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0002012	HP:0001408	Bile duct proliferation	5	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3	.		166
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0002012	HP:0002613	Biliary cirrhosis	5	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent
HP:0002012	HP:0002613	Biliary cirrhosis	5	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040281 - Very frequent		71
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040282 - Frequent		71
HP:0002012	HP:0006572	Subacute progressive viral hepatitis	5	TP53 CL E G H	7157	11998	OMIM:114550	Hepatocellular carcinoma	.		911
HP:0002012	HP:0001081	Cholelithiasis	5	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency	.		28
HP:0002012	HP:0001082	Cholecystitis	5	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency	.		28
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	TPO CL E G H	7173	12015	ORPHA:95716	Familial thyroid dyshormonogenesis	HP:0040282 - Frequent		92
HP:0002012	HP:0001397	Hepatic steatosis	5	TRAPPC11 CL E G H	60684	25751	OMIM:615356	Muscular dystrophy, limb-girdle, autosomal recessive 18	HP:0040283 - Occasional		27
HP:0002012	HP:0001397	Hepatic steatosis	5	TRAPPC11 CL E G H	60684	25751	ORPHA:369840	TRAPPC11-related limb-girdle muscular dystrophy R18	HP:0040283 - Occasional		27
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		56
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1	.		56
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	TRHR CL E G H	7201	12299	ORPHA:99832	Resistance to thyrotropin-releasing hormone syndrome	HP:0040282 - Frequent		2
HP:0002012	HP:0001397	Hepatic steatosis	5	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient			101
HP:0002012	HP:0006565	Increased hepatocellular lipid droplets	5	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0002012	HP:0006565	Increased hepatocellular lipid droplets	5	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	TSHB CL E G H	7252	12372	ORPHA:90674	Isolated thyroid-stimulating hormone deficiency	HP:0040282 - Frequent		9
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	TSHR CL E G H	7253	12373	ORPHA:90673	Hypothyroidism due to TSH receptor mutations	HP:0040282 - Frequent		97
HP:0002012	HP:0001408	Bile duct proliferation	5	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002012	HP:0002613	Biliary cirrhosis	5	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002012	HP:0100889	Abnormality of the ductus choledochus	5	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040283 - Occasional		26
HP:0002012	HP:0001397	Hepatic steatosis	5	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0002012	HP:0001397	Hepatic steatosis	5	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0002012	HP:0004510	Pancreatic islet-cell hyperplasia	5	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency			15
HP:0002012	HP:0001081	Cholelithiasis	5	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	UGT1A1 CL E G H	54658	12530	ORPHA:79234	Crigler-Najjar syndrome type 1	HP:0040281 - Very frequent		73
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	UGT1A1 CL E G H	54658	12530	ORPHA:79235	Crigler-Najjar syndrome type 2	HP:0040281 - Very frequent		73
HP:0002012	HP:0001397	Hepatic steatosis	5	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0002012	HP:0001081	Cholelithiasis	5	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0002012	HP:0001081	Cholelithiasis	5	UROS CL E G H	7390	12592	OMIM:263700	Porphyria, congenital erythropoietic	.		41
HP:0002012	HP:0100889	Abnormality of the ductus choledochus	5	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0002012	HP:0001397	Hepatic steatosis	5	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional		63
HP:0002012	HP:0008261	Pancreatic islet cell adenoma	5	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		490
HP:0002012	HP:0001397	Hepatic steatosis	5	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0002012	HP:0005912	Biliary atresia	5	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0002012	HP:0001081	Cholelithiasis	5	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002012	HP:0001081	Cholelithiasis	5	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0002012	HP:0001397	Hepatic steatosis	5	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13			95
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8			95
HP:0002012	HP:0001408	Bile duct proliferation	5	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0002012	HP:0002613	Biliary cirrhosis	5	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0002012	HP:0030151	Cholangitis	5	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0002012	HP:0001397	Hepatic steatosis	5	XRCC4 CL E G H	7518	12831	ORPHA:436182	Microcephalic primordial dwarfism-insulin resistance syndrome	HP:0040281 - Very frequent		9
HP:0002012	HP:0001397	Hepatic steatosis	5	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002012	HP:0006579	Prolonged neonatal jaundice	5	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002012	HP:0011040	Abnormal intrahepatic bile duct morphology	5	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0002012	HP:0005912	Biliary atresia	5	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked	.		39
HP:0002012	HP:0001397	Hepatic steatosis	5	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0002012	HP:0005233	Hypoplasia of the gallbladder	6	CL E G H
HP:0002012	HP:0011984	Atretic gallbladder	6	CL E G H
HP:0002012	HP:0012441	Sphincter of Oddi dyskinesia	6	CL E G H
HP:0002012	HP:0012442	Gallbladder dyskinesia	6	CL E G H
HP:0002012	HP:0025344	Interlobular bile duct destruction	6	CL E G H
HP:0002012	HP:0025519	Multiple biliary hamartomas	6	CL E G H
HP:0002012	HP:0030987	Suppurative cholangitis	6	CL E G H
HP:0002012	HP:0030988	Granulomatous cholangitis	6	CL E G H
HP:0002012	HP:0030989	Lymphoid cholangitis	6	CL E G H
HP:0002012	HP:0030990	Pleomorphic cholangitis	6	CL E G H
HP:0002012	HP:0011980	Cholesterol gallstones	6	ABCB4 CL E G H	5244	45	OMIM:600803	Gallbladder disease 1	.		111
HP:0002012	HP:0030991	Sclerosing cholangitis	6	ABCB4 CL E G H	5244	45	ORPHA:69663	Low phospholipid-associated cholelithiasis	HP:0040284 - Very rare		111
HP:0002012	HP:0031223	Focal pancreatic islet hyperplasia	6	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040282 - Frequent		245
HP:0002012	HP:0031224	Diffuse pancreatic islet hyperplasia	6	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040282 - Frequent		245
HP:0002012	HP:0001414	Microvesicular hepatic steatosis	6	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency	.		98
HP:0002012	HP:0006555	Diffuse hepatic steatosis	6	ACOX1 CL E G H	51	119	OMIM:264470	Peroxisomal acyl-coa oxidase deficiency	.		120
HP:0002012	HP:0100575	Neoplasm of the gallbladder	6	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040284 - Very rare		253
HP:0002012	HP:0005608	Bilobate gallbladder	6	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0002012	HP:0001414	Microvesicular hepatic steatosis	6	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.		72
HP:0002012	HP:0030153	Cholangiocarcinoma	6	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040284 - Very rare
HP:0002012	HP:0001414	Microvesicular hepatic steatosis	6	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27	.		35
HP:0002012	HP:0005248	Intrahepatic biliary atresia	6	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		247
HP:0002012	HP:0011467	Absent gallbladder	6	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6			247
HP:0002012	HP:0030991	Sclerosing cholangitis	6	CD40LG CL E G H	959	11935	OMIM:308230	Immunodeficiency, X-linked, with hyper-IgM			33
HP:0002012	HP:0012197	Insulinoma	6	CDKN1A CL E G H	1026	1784	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		2
HP:0002012	HP:0012197	Insulinoma	6	CDKN1B CL E G H	1027	1785	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		102
HP:0002012	HP:0012197	Insulinoma	6	CDKN1B CL E G H	1027	1785	ORPHA:276152	Multiple endocrine neoplasia type 4	HP:0040282 - Frequent		102
HP:0002012	HP:0012197	Insulinoma	6	CDKN2B CL E G H	1030	1788	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		1
HP:0002012	HP:0012197	Insulinoma	6	CDKN2C CL E G H	1031	1789	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional
HP:0002012	HP:0030991	Sclerosing cholangitis	6	CIITA CL E G H	4261	7067	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent		118
HP:0002012	HP:0011467	Absent gallbladder	6	CNOT1 CL E G H	23019	7877	ORPHA:556955	Pancreatic agenesis-holoprosencephaly syndrome	HP:0040282 - Frequent		2
HP:0002012	HP:0006555	Diffuse hepatic steatosis	6	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0002012	HP:0001403	Macrovesicular hepatic steatosis	6	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile	.		101
HP:0002012	HP:0001403	Macrovesicular hepatic steatosis	6	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.		101
HP:0002012	HP:0001403	Macrovesicular hepatic steatosis	6	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0040281 - Very frequent		11
HP:0002012	HP:0006573	Acute hepatic steatosis	6	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0040281 - Very frequent		11
HP:0002012	HP:0011980	Cholesterol gallstones	6	CYP7A1 CL E G H	1581	2651	ORPHA:209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	HP:0040281 - Very frequent		11
HP:0002012	HP:0030991	Sclerosing cholangitis	6	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal	.		8
HP:0002012	HP:0006571	Reduced number of intrahepatic bile ducts	6	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome			8
HP:0002012	HP:0001414	Microvesicular hepatic steatosis	6	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V	.		25
HP:0002012	HP:0001414	Microvesicular hepatic steatosis	6	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040283 - Occasional		25
HP:0002012	HP:0001403	Macrovesicular hepatic steatosis	6	DOCK2 CL E G H	1794	2988	OMIM:616433	Immunodeficiency 40			6
HP:0002012	HP:0030153	Cholangiocarcinoma	6	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040284 - Very rare		4
HP:0002012	HP:0001403	Macrovesicular hepatic steatosis	6	EARS2 CL E G H	124454	29419	OMIM:614924	Combined oxidative phosphorylation deficiency 12	HP:0040283 - Occasional		80
HP:0002012	HP:0011467	Absent gallbladder	6	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional		61
HP:0002012	HP:0011467	Absent gallbladder	6	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0002012	HP:4000061	Pancreatic alpha-cell hyperplasia	6	GCGR CL E G H	2642	4192	OMIM:619290	MAHVASH DISEASE; MVAH			1
HP:0002012	HP:0011981	Pigment gallstones	6	GPI CL E G H	2821	4458	OMIM:613470	Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerasedeficiency	.		12
HP:0002012	HP:0100575	Neoplasm of the gallbladder	6	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040284 - Very rare		2
HP:0002012	HP:0030153	Cholangiocarcinoma	6	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		2
HP:0002012	HP:0006555	Diffuse hepatic steatosis	6	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent		99
HP:0002012	HP:0006555	Diffuse hepatic steatosis	6	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent		60
HP:0002012	HP:0011981	Pigment gallstones	6	HBB CL E G H	3043	4827	ORPHA:232	Sickle cell anemia	HP:0040282 - Frequent		580
HP:0002012	HP:0030153	Cholangiocarcinoma	6	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040284 - Very rare		38
HP:0002012	HP:0005248	Intrahepatic biliary atresia	6	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		111
HP:0002012	HP:0011467	Absent gallbladder	6	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly	.
HP:0002012	HP:0006571	Reduced number of intrahepatic bile ducts	6	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.		257
HP:0002012	HP:0031224	Diffuse pancreatic islet hyperplasia	6	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040282 - Frequent		127
HP:0002012	HP:0008194	Multiple pancreatic beta-cell adenomas	6	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0002012	HP:0031223	Focal pancreatic islet hyperplasia	6	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0002012	HP:0031224	Diffuse pancreatic islet hyperplasia	6	KCNJ11 CL E G H	3767	6257	ORPHA:79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency			127
HP:0002012	HP:0030991	Sclerosing cholangitis	6	KIF12 CL E G H	113220	21495	OMIM:619662	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8; PFIC8			1
HP:0002012	HP:0033149	Intrahepatic bile duct dilatation	6	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0002012	HP:0001403	Macrovesicular hepatic steatosis	6	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional		1
HP:0002012	HP:0006571	Reduced number of intrahepatic bile ducts	6	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040283 - Occasional		46
HP:0002012	HP:0005242	Extrahepatic biliary duct atresia	6	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome	HP:0040283 - Occasional		8
HP:0002012	HP:0001414	Microvesicular hepatic steatosis	6	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.		191
HP:0002012	HP:0001403	Macrovesicular hepatic steatosis	6	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0002012	HP:0001414	Microvesicular hepatic steatosis	6	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0002012	HP:0008194	Multiple pancreatic beta-cell adenomas	6	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus	.
HP:0002012	HP:0012197	Insulinoma	6	MAFA CL E G H	389692	23145	OMIM:147630	Insulinomatosis and diabetes mellitus
HP:0002012	HP:0006573	Acute hepatic steatosis	6	MCCC1 CL E G H	56922	6936	OMIM:210200	3-Methylcrotonyl-CoA carboxylase 1 deficiency	.		81
HP:0002012	HP:0033149	Intrahepatic bile duct dilatation	6	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0002012	HP:0005209	Intrahepatic bile duct cysts	6	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0002012	HP:0012197	Insulinoma	6	MEN1 CL E G H	4221	7010	OMIM:131100	Multiple endocrine neoplasia 1			462
HP:0002012	HP:0012197	Insulinoma	6	MEN1 CL E G H	4221	7010	ORPHA:652	Multiple endocrine neoplasia type 1	HP:0040283 - Occasional		462
HP:0002012	HP:0001403	Macrovesicular hepatic steatosis	6	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0002012	HP:0001403	Macrovesicular hepatic steatosis	6	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.		56
HP:0002012	HP:0001414	Microvesicular hepatic steatosis	6	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy	.		56
HP:0002012	HP:0001414	Microvesicular hepatic steatosis	6	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16	.		13
HP:0002012	HP:0100575	Neoplasm of the gallbladder	6	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040284 - Very rare		1
HP:0002012	HP:0030153	Cholangiocarcinoma	6	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		1
HP:0002012	HP:0001403	Macrovesicular hepatic steatosis	6	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0002012	HP:0001403	Macrovesicular hepatic steatosis	6	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0002012	HP:0001414	Microvesicular hepatic steatosis	6	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0002012	HP:0001403	Macrovesicular hepatic steatosis	6	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11	.		40
HP:0002012	HP:0001414	Microvesicular hepatic steatosis	6	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional		32
HP:0002012	HP:0001414	Microvesicular hepatic steatosis	6	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0002012	HP:0001401	Intrahepatic biliary dysgenesis	6	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.		169
HP:0002012	HP:0001401	Intrahepatic biliary dysgenesis	6	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.		82
HP:0002012	HP:0001401	Intrahepatic biliary dysgenesis	6	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.		99
HP:0002012	HP:0001414	Microvesicular hepatic steatosis	6	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0002012	HP:0030153	Cholangiocarcinoma	6	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040284 - Very rare		563
HP:0002012	HP:0030153	Cholangiocarcinoma	6	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040284 - Very rare		563
HP:0002012	HP:0001414	Microvesicular hepatic steatosis	6	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.		464
HP:0002012	HP:0001403	Macrovesicular hepatic steatosis	6	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional		464
HP:0002012	HP:0100575	Neoplasm of the gallbladder	6	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040284 - Very rare		81
HP:0002012	HP:0030991	Sclerosing cholangitis	6	REL CL E G H	5966	9954	OMIM:619652	IMMUNODEFICIENCY 92; IMD92			1
HP:0002012	HP:0030991	Sclerosing cholangitis	6	RFX5 CL E G H	5993	9986	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent		38
HP:0002012	HP:0011467	Absent gallbladder	6	RFX6 CL E G H	222546	21478	OMIM:615710	Mitchell-Riley syndrome	.		28
HP:0002012	HP:0030991	Sclerosing cholangitis	6	RFXANK CL E G H	8625	9987	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent		26
HP:0002012	HP:0030991	Sclerosing cholangitis	6	RFXAP CL E G H	5994	9988	ORPHA:572	Immunodeficiency by defective expression of MHC class II	HP:0040282 - Frequent		34
HP:0002012	HP:0005248	Intrahepatic biliary atresia	6	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		167
HP:0002012	HP:0001403	Macrovesicular hepatic steatosis	6	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional		125
HP:0002012	HP:0005608	Bilobate gallbladder	6	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS			80
HP:0002012	HP:0100575	Neoplasm of the gallbladder	6	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040284 - Very rare
HP:0002012	HP:0030153	Cholangiocarcinoma	6	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional
HP:0002012	HP:0001414	Microvesicular hepatic steatosis	6	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary			207
HP:0002012	HP:0011467	Absent gallbladder	6	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0002012	HP:0011467	Absent gallbladder	6	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0002012	HP:0100890	Cyst of the ductus choledochus	6	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0002012	HP:0100575	Neoplasm of the gallbladder	6	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040284 - Very rare		241
HP:0002012	HP:0030153	Cholangiocarcinoma	6	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040283 - Occasional		241
HP:0002012	HP:0005248	Intrahepatic biliary atresia	6	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18			31
HP:0002012	HP:0001414	Microvesicular hepatic steatosis	6	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	.		1
HP:0002012	HP:0033149	Intrahepatic bile duct dilatation	6	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1			166
HP:0002012	HP:0005248	Intrahepatic biliary atresia	6	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent		166
HP:0002012	HP:0006571	Reduced number of intrahepatic bile ducts	6	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome			166
HP:0002012	HP:0001403	Macrovesicular hepatic steatosis	6	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient	.		101
HP:0002012	HP:0001414	Microvesicular hepatic steatosis	6	TRMU CL E G H	55687	25481	OMIM:613070	Liver failure, infantile, transient	.		101
HP:0002012	HP:0033149	Intrahepatic bile duct dilatation	6	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002012	HP:0001403	Macrovesicular hepatic steatosis	6	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040283 - Occasional		138
HP:0002012	HP:0031224	Diffuse pancreatic islet hyperplasia	6	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040283 - Occasional		15
HP:0002012	HP:0001414	Microvesicular hepatic steatosis	6	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0002012	HP:0100890	Cyst of the ductus choledochus	6	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional		27
HP:0002012	HP:0001403	Macrovesicular hepatic steatosis	6	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0002012	HP:0005248	Intrahepatic biliary atresia	6	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0002012	HP:0001414	Microvesicular hepatic steatosis	6	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG			1
HP:0002012	HP:0033149	Intrahepatic bile duct dilatation	6	WDR19 CL E G H	57728	18340	OMIM:614377	Nephronophthisis 13			95
HP:0002012	HP:0033149	Intrahepatic bile duct dilatation	6	WDR19 CL E G H	57728	18340	OMIM:616307	Senior-Loken syndrome 8			95
HP:0002012	HP:0001414	Microvesicular hepatic steatosis	6	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002012	HP:0034328	Fibro-obliterative bile-duct lesion	6	ZFYVE19 CL E G H	84936	20758	OMIM:619849
HP:0002012	HP:0011982	Black pigment gallstones	7	CL E G H
HP:0002012	HP:0011983	Brown pigment gallstones	7	CL E G H