Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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

Grandparent Node:
Abnormal abdomen morphology (HP:0001438)

Parent Node:
Abnormal liver morphology (HP:0410042)

Parent Node:
Abnormal spleen morphology (HP:0025408)

Parent Node:
Visceromegaly (HP:0003271)

..Starting node
..Hepatosplenomegaly (HP:0001433)

Term ID:

1433

Name:

Hepatosplenomegaly

Synonym:

Enlarged liver and spleen

Definition:

Simultaneous enlargement of the liver and spleen.

Comments:

Reference:

HP:0001433

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hepatomegaly (HP:0002240)

Splenomegaly (HP:0001744)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001433	HP:0001433	Hepatosplenomegaly	0	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease	HP:0040282 - Frequent	191
HP:0001433	HP:0001433	Hepatosplenomegaly	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome		22
HP:0001433	HP:0001433	Hepatosplenomegaly	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	116
HP:0001433	HP:0001433	Hepatosplenomegaly	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il		93
HP:0001433	HP:0001433	Hepatosplenomegaly	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional	404
HP:0001433	HP:0001433	Hepatosplenomegaly	0	ANKRD55 CL E G H	79722	25681	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare
HP:0001433	HP:0001433	Hepatosplenomegaly	0	AP3B1 CL E G H	8546	566	OMIM:608233	Hermansky-Pudlak syndrome 2		83
HP:0001433	HP:0001433	Hepatosplenomegaly	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040283 - Occasional	78
HP:0001433	HP:0001433	Hepatosplenomegaly	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	145
HP:0001433	HP:0001433	Hepatosplenomegaly	0	BRCA1 CL E G H	672	1100	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	5769
HP:0001433	HP:0001433	Hepatosplenomegaly	0	BRCA2 CL E G H	675	1101	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	7642
HP:0001433	HP:0001433	Hepatosplenomegaly	0	CA2 CL E G H	760	1373	OMIM:259730	Osteopetrosis, autosomal recessive 3	.	29
HP:0001433	HP:0001433	Hepatosplenomegaly	0	CALR CL E G H	811	1455	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent	1
HP:0001433	HP:0001433	Hepatosplenomegaly	0	CAV1 CL E G H	857	1527	OMIM:612526	Lipodystrophy, congenital generalized, type 3		11
HP:0001433	HP:0001433	Hepatosplenomegaly	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	317
HP:0001433	HP:0001433	Hepatosplenomegaly	0	CCDC115 CL E G H	84317	28178	OMIM:616828	Congenital disorder of glycosylation, type IIO		3
HP:0001433	HP:0001433	Hepatosplenomegaly	0	CD247 CL E G H	919	1677	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare	8
HP:0001433	HP:0001433	Hepatosplenomegaly	0	CD247 CL E G H	919	1677	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	8
HP:0001433	HP:0001433	Hepatosplenomegaly	0	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2		4
HP:0001433	HP:0001433	Hepatosplenomegaly	0	CD3D CL E G H	915	1673	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	18
HP:0001433	HP:0001433	Hepatosplenomegaly	0	CD3E CL E G H	916	1674	ORPHA:169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	HP:0040283 - Occasional	24
HP:0001433	HP:0001433	Hepatosplenomegaly	0	CD70 CL E G H	970	11937	OMIM:618261	LYMPHOPROLIFERATIVE SYNDROME 3; LPFS3
HP:0001433	HP:0001433	Hepatosplenomegaly	0	CDKN2A CL E G H	1029	1787	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	289
HP:0001433	HP:0001433	Hepatosplenomegaly	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis		1371
HP:0001433	HP:0001433	Hepatosplenomegaly	0	CLCN7 CL E G H	1186	2025	ORPHA:210110	Intermediate osteopetrosis	HP:0040284 - Very rare	102
HP:0001433	HP:0001433	Hepatosplenomegaly	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040283 - Occasional	52
HP:0001433	HP:0001433	Hepatosplenomegaly	0	COG4 CL E G H	25839	18620	ORPHA:263501	COG4-CDG	HP:0040282 - Frequent	67
HP:0001433	HP:0001433	Hepatosplenomegaly	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional	79
HP:0001433	HP:0001433	Hepatosplenomegaly	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG		64
HP:0001433	HP:0001433	Hepatosplenomegaly	0	CSF3R CL E G H	1441	2439	OMIM:162830	Neutrophilia, hereditary	.	34
HP:0001433	HP:0001433	Hepatosplenomegaly	0	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis	HP:0040283 - Occasional	51
HP:0001433	HP:0001433	Hepatosplenomegaly	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0001433	HP:0001433	Hepatosplenomegaly	0	CYBC1 CL E G H	79415	28672	OMIM:618935	GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, 5; CGD5
HP:0001433	HP:0001433	Hepatosplenomegaly	0	CYP7B1 CL E G H	9420	2652	ORPHA:79302	Congenital bile acid synthesis defect type 3		57
HP:0001433	HP:0001433	Hepatosplenomegaly	0	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome		8
HP:0001433	HP:0001433	Hepatosplenomegaly	0	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040283 - Occasional
HP:0001433	HP:0001433	Hepatosplenomegaly	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0001433	HP:0001433	Hepatosplenomegaly	0	DNASE2 CL E G H	1777	2960	OMIM:619858
HP:0001433	HP:0001433	Hepatosplenomegaly	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional	27
HP:0001433	HP:0001433	Hepatosplenomegaly	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	4
HP:0001433	HP:0001433	Hepatosplenomegaly	0	DZIP1L CL E G H	199221	26551	OMIM:617610	Polycystic kidney disease 5		4
HP:0001433	HP:0001433	Hepatosplenomegaly	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0001433	HP:0001433	Hepatosplenomegaly	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis		6
HP:0001433	HP:0001433	Hepatosplenomegaly	0	FERMT3 CL E G H	83706	23151	OMIM:612840	Leukocyte adhesion deficiency, type III		23
HP:0001433	HP:0001433	Hepatosplenomegaly	0	FGFR2 CL E G H	2263	3689	OMIM:614592	Bent bone dysplasia syndrome	HP:0040283 - Occasional	175
HP:0001433	HP:0001433	Hepatosplenomegaly	0	FGFR2 CL E G H	2263	3689	ORPHA:313855	FGFR2-related bent bone dysplasia	HP:0040283 - Occasional	175
HP:0001433	HP:0001433	Hepatosplenomegaly	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive		37
HP:0001433	HP:0001433	Hepatosplenomegaly	0	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040283 - Occasional	23
HP:0001433	HP:0001433	Hepatosplenomegaly	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0001433	HP:0001433	Hepatosplenomegaly	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040282 - Frequent
HP:0001433	HP:0001433	Hepatosplenomegaly	0	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV	.	86
HP:0001433	HP:0001433	Hepatosplenomegaly	0	GCLC CL E G H	2729	4311	ORPHA:33574	Glutamate-cysteine ligase deficiency	HP:0040283 - Occasional	2
HP:0001433	HP:0001433	Hepatosplenomegaly	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040281 - Very frequent	120
HP:0001433	HP:0001433	Hepatosplenomegaly	0	GLRX5 CL E G H	51218	20134	OMIM:616860	Anemia, sideroblastic, 3, pyridoxine-refractory		17
HP:0001433	HP:0001433	Hepatosplenomegaly	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001433	HP:0001433	Hepatosplenomegaly	0	GNE CL E G H	10020	23657	ORPHA:3166	Sialuria	HP:0040281 - Very frequent	173
HP:0001433	HP:0001433	Hepatosplenomegaly	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:0001433	HP:0001433	Hepatosplenomegaly	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	2
HP:0001433	HP:0001433	Hepatosplenomegaly	0	HAVCR2 CL E G H	84868	18437	ORPHA:86884	Subcutaneous panniculitis-like T-cell lymphoma	HP:0040282 - Frequent
HP:0001433	HP:0001433	Hepatosplenomegaly	0	HBB CL E G H	3043	4827	ORPHA:231222	Beta-thalassemia intermedia	HP:0040283 - Occasional	580
HP:0001433	HP:0001433	Hepatosplenomegaly	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040283 - Occasional	580
HP:0001433	HP:0001433	Hepatosplenomegaly	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040283 - Occasional	580
HP:0001433	HP:0001433	Hepatosplenomegaly	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.	80
HP:0001433	HP:0001433	Hepatosplenomegaly	0	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form		80
HP:0001433	HP:0001433	Hepatosplenomegaly	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040283 - Occasional
HP:0001433	HP:0001433	Hepatosplenomegaly	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional	86
HP:0001433	HP:0001433	Hepatosplenomegaly	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional	86
HP:0001433	HP:0001433	Hepatosplenomegaly	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II		86
HP:0001433	HP:0001433	Hepatosplenomegaly	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.	115
HP:0001433	HP:0001433	Hepatosplenomegaly	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	28
HP:0001433	HP:0001433	Hepatosplenomegaly	0	IFNG CL E G H	3458	5438	OMIM:618963	IMMUNODEFICIENCY 69; IMD69		23
HP:0001433	HP:0001433	Hepatosplenomegaly	0	IFNGR1 CL E G H	3459	5439	OMIM:209950	Immunodeficiency 27A, mycobacteriosis, AR		60
HP:0001433	HP:0001433	Hepatosplenomegaly	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0001433	HP:0001433	Hepatosplenomegaly	0	IKBKG CL E G H	8517	5961	OMIM:301081			52
HP:0001433	HP:0001433	Hepatosplenomegaly	0	IL2RA CL E G H	3559	6008	OMIM:606367	IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY; IMD41		65
HP:0001433	HP:0001433	Hepatosplenomegaly	0	IL2RA CL E G H	3559	6008	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare	65
HP:0001433	HP:0001433	Hepatosplenomegaly	0	IL2RB CL E G H	3560	6009	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare
HP:0001433	HP:0001433	Hepatosplenomegaly	0	IL6ST CL E G H	3572	6021	OMIM:619750	IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES; IMD94
HP:0001433	HP:0001433	Hepatosplenomegaly	0	IL7R CL E G H	3575	6024	ORPHA:169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	HP:0040283 - Occasional	94
HP:0001433	HP:0001433	Hepatosplenomegaly	0	ITCH CL E G H	83737	13890	ORPHA:228426	Syndromic multisystem autoimmune disease due to Itch deficiency	HP:0040281 - Very frequent	3
HP:0001433	HP:0001433	Hepatosplenomegaly	0	JAK1 CL E G H	3716	6190	OMIM:618999	AUTOINFLAMMATION, IMMUNE DYSREGULATION, AND EOSINOPHILIA; AIIDE		12
HP:0001433	HP:0001433	Hepatosplenomegaly	0	JAK2 CL E G H	3717	6192	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent	57
HP:0001433	HP:0001433	Hepatosplenomegaly	0	JAK3 CL E G H	3718	6193	ORPHA:35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	HP:0040284 - Very rare	140
HP:0001433	HP:0001433	Hepatosplenomegaly	0	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0001433	HP:0001433	Hepatosplenomegaly	0	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV		42
HP:0001433	HP:0001433	Hepatosplenomegaly	0	KPTN CL E G H	11133	6404	ORPHA:397612	Macrocephaly-developmental delay syndrome	HP:0040283 - Occasional	13
HP:0001433	HP:0001433	Hepatosplenomegaly	0	KRAS CL E G H	3845	6407	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	196
HP:0001433	HP:0001433	Hepatosplenomegaly	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0001433	HP:0001433	Hepatosplenomegaly	0	LIPA CL E G H	3988	6617	OMIM:278000	Lysosomal acid lipase deficiency		73
HP:0001433	HP:0001433	Hepatosplenomegaly	0	LPIN2 CL E G H	9663	14450	OMIM:609628	MAJEED SYNDROME; MJDS		186
HP:0001433	HP:0001433	Hepatosplenomegaly	0	LPL CL E G H	4023	6677	OMIM:238600	Type I hyperlipoproteinemia	.	106
HP:0001433	HP:0001433	Hepatosplenomegaly	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0001433	HP:0001433	Hepatosplenomegaly	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040282 - Frequent	239
HP:0001433	HP:0001433	Hepatosplenomegaly	0	MAN2B1 CL E G H	4125	6826	ORPHA:309288	Alpha-mannosidosis, adult form	HP:0040283 - Occasional	136
HP:0001433	HP:0001433	Hepatosplenomegaly	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040282 - Frequent	136
HP:0001433	HP:0001433	Hepatosplenomegaly	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0001433	HP:0001433	Hepatosplenomegaly	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0001433	HP:0001433	Hepatosplenomegaly	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional	37
HP:0001433	HP:0001433	Hepatosplenomegaly	0	MPL CL E G H	4352	7217	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent	97
HP:0001433	HP:0001433	Hepatosplenomegaly	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	1
HP:0001433	HP:0001433	Hepatosplenomegaly	0	MVK CL E G H	4598	7530	OMIM:260920	Hyper-Igd syndrome		150
HP:0001433	HP:0001433	Hepatosplenomegaly	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0001433	HP:0001433	Hepatosplenomegaly	0	NCKAP1L CL E G H	3071	4862	OMIM:618982	IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION; IMD72
HP:0001433	HP:0001433	Hepatosplenomegaly	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040282 - Frequent	43
HP:0001433	HP:0001433	Hepatosplenomegaly	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional	43
HP:0001433	HP:0001433	Hepatosplenomegaly	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0001433	HP:0001433	Hepatosplenomegaly	0	NLRP3 CL E G H	114548	16400	OMIM:607115	CINCA SYNDROME; CINCA		217
HP:0001433	HP:0001433	Hepatosplenomegaly	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0001433	HP:0001433	Hepatosplenomegaly	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0001433	HP:0001433	Hepatosplenomegaly	0	PALB2 CL E G H	79728	26144	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	1349
HP:0001433	HP:0001433	Hepatosplenomegaly	0	PALLD CL E G H	23022	17068	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	192
HP:0001433	HP:0001433	Hepatosplenomegaly	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.	82
HP:0001433	HP:0001433	Hepatosplenomegaly	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	563
HP:0001433	HP:0001433	Hepatosplenomegaly	0	PLEKHM1 CL E G H	9842	29017	ORPHA:210110	Intermediate osteopetrosis	HP:0040284 - Very rare	2
HP:0001433	HP:0001433	Hepatosplenomegaly	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2		58
HP:0001433	HP:0001433	Hepatosplenomegaly	0	PRKCD CL E G H	5580	9399	OMIM:615559	AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3		10
HP:0001433	HP:0001433	Hepatosplenomegaly	0	PSTPIP1 CL E G H	9051	9580	OMIM:604416	Pyogenic sterile arthritis, pyoderma gangrenosum, and acne		96
HP:0001433	HP:0001433	Hepatosplenomegaly	0	PTPN2 CL E G H	5771	9650	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare
HP:0001433	HP:0001433	Hepatosplenomegaly	0	PTPN22 CL E G H	26191	9652	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare	3
HP:0001433	HP:0001433	Hepatosplenomegaly	0	PTPRC CL E G H	5788	9666	OMIM:619924			25
HP:0001433	HP:0001433	Hepatosplenomegaly	0	RAB27A CL E G H	5873	9766	OMIM:607624	Griscelli syndrome, type 2		67
HP:0001433	HP:0001433	Hepatosplenomegaly	0	RABL3 CL E G H	285282	18072	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional
HP:0001433	HP:0001433	Hepatosplenomegaly	0	RAC2 CL E G H	5880	9802	OMIM:618986	IMMUNODEFICIENCY 73B WITH DEFECTIVE NEUTROPHIL CHEMOTAXIS AND LYMPHOPENIA; IMD73B		9
HP:0001433	HP:0001433	Hepatosplenomegaly	0	RAG1 CL E G H	5896	9831	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional	127
HP:0001433	HP:0001433	Hepatosplenomegaly	0	RAG2 CL E G H	5897	9832	ORPHA:331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	HP:0040283 - Occasional	50
HP:0001433	HP:0001433	Hepatosplenomegaly	0	RASGRP1 CL E G H	10125	9878	OMIM:618534	IMMUNODEFICIENCY 64; IMD64
HP:0001433	HP:0001433	Hepatosplenomegaly	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001433	HP:0001433	Hepatosplenomegaly	0	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional	13
HP:0001433	HP:0001433	Hepatosplenomegaly	0	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional	8
HP:0001433	HP:0001433	Hepatosplenomegaly	0	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional	16
HP:0001433	HP:0001433	Hepatosplenomegaly	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	33
HP:0001433	HP:0001433	Hepatosplenomegaly	0	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4		33
HP:0001433	HP:0001433	Hepatosplenomegaly	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	34
HP:0001433	HP:0001433	Hepatosplenomegaly	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	60
HP:0001433	HP:0001433	Hepatosplenomegaly	0	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3		60
HP:0001433	HP:0001433	Hepatosplenomegaly	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0001433	HP:0001433	Hepatosplenomegaly	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0001433	HP:0001433	Hepatosplenomegaly	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001433	HP:0001433	Hepatosplenomegaly	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0001433	HP:0001433	Hepatosplenomegaly	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	181
HP:0001433	HP:0001433	Hepatosplenomegaly	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	55
HP:0001433	HP:0001433	Hepatosplenomegaly	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0001433	HP:0001433	Hepatosplenomegaly	0	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:0001433	HP:0001433	Hepatosplenomegaly	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent
HP:0001433	HP:0001433	Hepatosplenomegaly	0	SLC25A13 CL E G H	10165	10983	ORPHA:247598	Neonatal intrahepatic cholestasis due to citrin deficiency	HP:0040282 - Frequent	82
HP:0001433	HP:0001433	Hepatosplenomegaly	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040282 - Frequent	68
HP:0001433	HP:0001433	Hepatosplenomegaly	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0001433	HP:0001433	Hepatosplenomegaly	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040282 - Frequent	255
HP:0001433	HP:0001433	Hepatosplenomegaly	0	SLC4A1 CL E G H	6521	11027	OMIM:611590	Renal tubular acidosis, distal, with hemolytic anemia	.	109
HP:0001433	HP:0001433	Hepatosplenomegaly	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040282 - Frequent	104
HP:0001433	HP:0001433	Hepatosplenomegaly	0	SMAD4 CL E G H	4089	6770	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	504
HP:0001433	HP:0001433	Hepatosplenomegaly	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional	14
HP:0001433	HP:0001433	Hepatosplenomegaly	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease		61
HP:0001433	HP:0001433	Hepatosplenomegaly	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040282 - Frequent	49
HP:0001433	HP:0001433	Hepatosplenomegaly	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	1
HP:0001433	HP:0001433	Hepatosplenomegaly	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent	89
HP:0001433	HP:0001433	Hepatosplenomegaly	0	STAT3 CL E G H	6774	11364	OMIM:615952	AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1; ADMIO1		110
HP:0001433	HP:0001433	Hepatosplenomegaly	0	STAT4 CL E G H	6775	11365	ORPHA:85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	HP:0040284 - Very rare	2
HP:0001433	HP:0001433	Hepatosplenomegaly	0	STEAP3 CL E G H	55240	24592	ORPHA:300298	Severe congenital hypochromic anemia with ringed sideroblasts	HP:0040283 - Occasional	1
HP:0001433	HP:0001433	Hepatosplenomegaly	0	STXBP2 CL E G H	6813	11445	OMIM:613101	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5; FHL5		70
HP:0001433	HP:0001433	Hepatosplenomegaly	0	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency	HP:0040281 - Very frequent	34
HP:0001433	HP:0001433	Hepatosplenomegaly	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency		34
HP:0001433	HP:0001433	Hepatosplenomegaly	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	241
HP:0001433	HP:0001433	Hepatosplenomegaly	0	TCIRG1 CL E G H	10312	11647	ORPHA:210110	Intermediate osteopetrosis	HP:0040284 - Very rare	82
HP:0001433	HP:0001433	Hepatosplenomegaly	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040282 - Frequent	3
HP:0001433	HP:0001433	Hepatosplenomegaly	0	TET2 CL E G H	54790	25941	OMIM:619126	IMMUNODEFICIENCY 75; IMD75		3
HP:0001433	HP:0001433	Hepatosplenomegaly	0	TET2 CL E G H	54790	25941	ORPHA:824	Primary myelofibrosis	HP:0040282 - Frequent	3
HP:0001433	HP:0001433	Hepatosplenomegaly	0	TFE3 CL E G H	7030	11752	OMIM:301066	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES; MRXSPF
HP:0001433	HP:0001433	Hepatosplenomegaly	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis		13
HP:0001433	HP:0001433	Hepatosplenomegaly	0	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome		166
HP:0001433	HP:0001433	Hepatosplenomegaly	0	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2	.	44
HP:0001433	HP:0001433	Hepatosplenomegaly	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040282 - Frequent
HP:0001433	HP:0001433	Hepatosplenomegaly	0	TP53 CL E G H	7157	11998	ORPHA:1333	Familial pancreatic carcinoma	HP:0040283 - Occasional	911
HP:0001433	HP:0001433	Hepatosplenomegaly	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	56
HP:0001433	HP:0001433	Hepatosplenomegaly	0	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0001433	HP:0001433	Hepatosplenomegaly	0	UNC13D CL E G H	201294	23147	OMIM:608898	HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3; FHL3		116
HP:0001433	HP:0001433	Hepatosplenomegaly	0	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:0001433	HP:0001433	Hepatosplenomegaly	0	ZAP70 CL E G H	7535	12858	ORPHA:911	Combined immunodeficiency due to ZAP70 deficiency	HP:0040283 - Occasional	46
HP:0001433	HP:0001433	Hepatosplenomegaly	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001433	HP:0001433	Hepatosplenomegaly	0	ZNFX1 CL E G H	57169	29271	OMIM:619644	IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION; IMD91

Genes (160) :ABCA1 ADA2 ADAR ALG9 ALMS1 ANKRD55 AP3B1 ASAH1 ASXL1 BRCA1 BRCA2 CA2 CALR CAV1 CBL CCDC115 CD247 CD27 CD3D CD3E CD70 CDKN2A CFTR CLCN7 COG1 COG4 COG5 COG7 CSF3R CTSA CTSK CYBC1 CYP7B1 DCDC2 DDRGK1 DLK1 DNASE2 DPM1 DZIP1L FARSA FCGR2A FERMT3 FGFR2 G6PC3 GALK1 GBA1 GBE1 GCLC GLB1 GLRX5 GNB2 GNE GNPTAB GPR35 HAVCR2 HBB HEXB IARS1 IDS IDUA IFIH1 IFNG IFNGR1 IFT140 IKBKG IL2RA IL2RB IL6ST IL7R ITCH JAK1 JAK2 JAK3 KIF3B KLF1 KPTN KRAS LBR LIPA LPIN2 LPL LSM11 LYST MAN2B1 MED12 MEG3 MOGS MPL MST1 MVK NCKAP1L NEU1 NHLRC2 NLRP3 NPHP3 OSTM1 PALB2 PALLD PEX2 PKHD1 PLEKHM1 PRF1 PRKCD PSTPIP1 PTPN2 PTPN22 PTPRC RAB27A RABL3 RAC2 RAG1 RAG2 RASGRP1 RBM8A RHAG RHCE RHD RNASEH2A RNASEH2B RNASEH2C RNU4ATAC RNU7-1 RTL1 RUNX1 SAMHD1 SC5D SCYL1 SEMA4D SLC25A13 SLC29A3 SLC2A1 SLC4A1 SLC7A7 SMAD4 SNX14 SOX10 SP110 SRSF2 STAT1 STAT3 STAT4 STEAP3 STXBP2 TALDO1 TCF4 TCIRG1 TET2 TFE3 TGFB1 TMEM67 TNFSF11 TOM1 TP53 TREX1 TULP3 UNC13D VPS33A ZAP70 ZNF699 ZNFX1

Diseases (134) :ORPHA:31150 OMIM:615688 ORPHA:51 OMIM:608776 ORPHA:64 ORPHA:85408 OMIM:608233 ORPHA:333 ORPHA:98850 ORPHA:1333 OMIM:259730 ORPHA:824 OMIM:612526 OMIM:616828 ORPHA:169160 OMIM:615122 OMIM:618261 OMIM:219700 ORPHA:210110 ORPHA:263508 ORPHA:263501 ORPHA:263487 ORPHA:79333 OMIM:162830 OMIM:256540 ORPHA:763 OMIM:618935 ORPHA:79302 ORPHA:84081 ORPHA:93352 ORPHA:96334 OMIM:619858 ORPHA:79322 ORPHA:731 OMIM:617610 OMIM:619013 OMIM:612840 OMIM:614592 ORPHA:313855 OMIM:612541 ORPHA:79237 OMIM:608013 ORPHA:2072 OMIM:232500 ORPHA:33574 ORPHA:79255 OMIM:616860 OMIM:619503 ORPHA:3166 ORPHA:576 ORPHA:171 ORPHA:86884 ORPHA:231222 ORPHA:231214 ORPHA:231226 OMIM:268800 ORPHA:309155 ORPHA:541423 ORPHA:217093 ORPHA:217085 OMIM:309900 OMIM:607014 OMIM:618963 OMIM:209950 OMIM:266920 OMIM:301081 OMIM:606367 OMIM:619750 ORPHA:169154 ORPHA:228426 OMIM:618999 ORPHA:35078 OMIM:618955 OMIM:613673 ORPHA:397612 OMIM:215140 OMIM:278000 OMIM:609628 OMIM:238600 ORPHA:167 ORPHA:309288 ORPHA:309282 OMIM:301068 ORPHA:79330 OMIM:260920 OMIM:610377 OMIM:618982 ORPHA:93400 ORPHA:93399 OMIM:618278 OMIM:607115 OMIM:267010 OMIM:259720 OMIM:614866 OMIM:603553 OMIM:615559 OMIM:604416 OMIM:619924 OMIM:607624 OMIM:618986 ORPHA:331206 OMIM:618534 OMIM:274000 ORPHA:71275 OMIM:610333 OMIM:610329 ORPHA:353298 OMIM:619487 OMIM:607330 ORPHA:466794 ORPHA:247598 ORPHA:168569 OMIM:602782 ORPHA:168577 OMIM:611590 ORPHA:470 ORPHA:397709 OMIM:609136 ORPHA:79124 ORPHA:391487 OMIM:615952 ORPHA:300298 OMIM:613101 ORPHA:101028 OMIM:606003 OMIM:619126 OMIM:301066 OMIM:259710 OMIM:619902 OMIM:608898 ORPHA:505248 ORPHA:911 OMIM:619488 OMIM:619644

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

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