Human Phenotype Ontology

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

Grandparent Node:
Abnormality of the digestive system (HP:0025031)

Parent Node:
Abnormal abdomen morphology (HP:0001438)

..Starting node
..Ascites (HP:0001541)

Term ID:

1541

Name:

Ascites

Synonym:

Accumulation of fluid in the abdomen

Definition:

Accumulation of fluid in the peritoneal cavity.

Comments:

Reference:

HP:0001541

Genes and Diseases:

Child Nodes:

........

Fetal ascites (HP:0001791)

........

Chylous ascites (HP:0012281)

........

Eosinophilic ascites (HP:0031780)

Sister Nodes:

Abdominal aseptic abscess (HP:0025181)

Abdominal mass (HP:0031500)

Duplication of internal organs (HP:0005217)

Pelvic mass (HP:0031501)

Pelvic organ prolapse (HP:0031607)

Visceromegaly (HP:0003271)

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:0001541	HP:0001541	Ascites	0	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	146
HP:0001541	HP:0001541	Ascites	0	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	111
HP:0001541	HP:0001541	Ascites	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	415
HP:0001541	HP:0001541	Ascites	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040282 - Frequent	1
HP:0001541	HP:0001541	Ascites	0	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040283 - Occasional	1
HP:0001541	HP:0001541	Ascites	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040282 - Frequent	46
HP:0001541	HP:0001541	Ascites	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.	46
HP:0001541	HP:0001541	Ascites	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il	.	93
HP:0001541	HP:0001541	Ascites	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	147
HP:0001541	HP:0001541	Ascites	0	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional	1
HP:0001541	HP:0001541	Ascites	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040284 - Very rare	78
HP:0001541	HP:0001541	Ascites	0	ASXL1 CL E G H	171023	18318	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	145
HP:0001541	HP:0001541	Ascites	0	ATP6AP2 CL E G H	10159	18305	OMIM:301045	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIr; CDG2R		36
HP:0001541	HP:0001541	Ascites	0	ATP7B CL E G H	540	870	OMIM:277900	Wilson disease		315
HP:0001541	HP:0001541	Ascites	0	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	144
HP:0001541	HP:0001541	Ascites	0	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1	.	13
HP:0001541	HP:0001541	Ascites	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	5
HP:0001541	HP:0001541	Ascites	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	76
HP:0001541	HP:0001541	Ascites	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent
HP:0001541	HP:0001541	Ascites	0	CALR CL E G H	811	1455	ORPHA:131	Budd-Chiari syndrome	HP:0040281 - Very frequent	1
HP:0001541	HP:0001541	Ascites	0	CBL CL E G H	867	1541	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	317
HP:0001541	HP:0001541	Ascites	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040282 - Frequent	147
HP:0001541	HP:0001541	Ascites	0	CD27 CL E G H	939	11922	OMIM:615122	Lymphoproliferative syndrome 2	HP:0040283 - Occasional	4
HP:0001541	HP:0001541	Ascites	0	CD55 CL E G H	1604	2665	OMIM:226300	Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy	.	9
HP:0001541	HP:0001541	Ascites	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	17
HP:0001541	HP:0001541	Ascites	0	CYBB CL E G H	1536	2578	OMIM:306400	Chronic granulomatous disease, X-linked		111
HP:0001541	HP:0001541	Ascites	0	DCDC2 CL E G H	51473	18141	OMIM:617394	Sclerosing cholangitis, neonatal		8
HP:0001541	HP:0001541	Ascites	0	DCDC2 CL E G H	51473	18141	ORPHA:84081	Senior-Boichis syndrome		8
HP:0001541	HP:0001541	Ascites	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001541	HP:0001541	Ascites	0	DGUOK CL E G H	1716	2858	OMIM:251880	Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)	.	57
HP:0001541	HP:0001541	Ascites	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.	164
HP:0001541	HP:0001541	Ascites	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	9
HP:0001541	HP:0001541	Ascites	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040283 - Occasional	3
HP:0001541	HP:0001541	Ascites	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	18
HP:0001541	HP:0001541	Ascites	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	4
HP:0001541	HP:0001541	Ascites	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040284 - Very rare	65
HP:0001541	HP:0001541	Ascites	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0001541	HP:0001541	Ascites	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional	151
HP:0001541	HP:0001541	Ascites	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	4
HP:0001541	HP:0001541	Ascites	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.	158
HP:0001541	HP:0001541	Ascites	0	EWSR1 CL E G H	2130	3508	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040283 - Occasional
HP:0001541	HP:0001541	Ascites	0	F5 CL E G H	2153	3542	ORPHA:131	Budd-Chiari syndrome	HP:0040281 - Very frequent	159
HP:0001541	HP:0001541	Ascites	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.	107
HP:0001541	HP:0001541	Ascites	0	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia	.	8
HP:0001541	HP:0001541	Ascites	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0001541	HP:0001541	Ascites	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040282 - Frequent	114
HP:0001541	HP:0001541	Ascites	0	FLI1 CL E G H	2313	3749	ORPHA:370348	Peripheral primitive neuroectodermal tumor	HP:0040283 - Occasional	8
HP:0001541	HP:0001541	Ascites	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0001541	HP:0001541	Ascites	0	FSHR CL E G H	2492	3969	OMIM:608115	Ovarian hyperstimulation syndrome	.	50
HP:0001541	HP:0001541	Ascites	0	FSHR CL E G H	2492	3969	ORPHA:64739	Ovarian hyperstimulation syndrome	HP:0040281 - Very frequent	50
HP:0001541	HP:0001541	Ascites	0	GALT CL E G H	2592	4135	ORPHA:79239	Classic galactosemia	HP:0040284 - Very rare	351
HP:0001541	HP:0001541	Ascites	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional
HP:0001541	HP:0001541	Ascites	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0001541	HP:0001541	Ascites	0	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV	.	86
HP:0001541	HP:0001541	Ascites	0	GIMAP5 CL E G H	55340	18005	OMIM:619463	PORTAL HYPERTENSION, NONCIRRHOTIC, 2; NCPH2
HP:0001541	HP:0001541	Ascites	0	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional	16
HP:0001541	HP:0001541	Ascites	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001541	HP:0001541	Ascites	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	2
HP:0001541	HP:0001541	Ascites	0	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7	HP:0040281 - Very frequent	54
HP:0001541	HP:0001541	Ascites	0	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1	.	38
HP:0001541	HP:0001541	Ascites	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0001541	HP:0001541	Ascites	0	IL12A CL E G H	3592	5969	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0001541	HP:0001541	Ascites	0	IL12RB1 CL E G H	3594	5971	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional	46
HP:0001541	HP:0001541	Ascites	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0001541	HP:0001541	Ascites	0	IRF5 CL E G H	3663	6120	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional	4
HP:0001541	HP:0001541	Ascites	0	JAK2 CL E G H	3717	6192	ORPHA:131	Budd-Chiari syndrome	HP:0040281 - Very frequent	57
HP:0001541	HP:0001541	Ascites	0	KIF20A CL E G H	10112	9787	OMIM:619433	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0001541	HP:0001541	Ascites	0	KRT18 CL E G H	3875	6430	OMIM:215600	Cirrhosis, familial		19
HP:0001541	HP:0001541	Ascites	0	LBR CL E G H	3930	6518	ORPHA:779	Reynolds syndrome	HP:0040283 - Occasional	70
HP:0001541	HP:0001541	Ascites	0	LIPA CL E G H	3988	6617	ORPHA:75233	Wolman disease	HP:0040282 - Frequent	73
HP:0001541	HP:0001541	Ascites	0	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0001541	HP:0001541	Ascites	0	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040283 - Occasional	281
HP:0001541	HP:0001541	Ascites	0	MMEL1 CL E G H	79258	14668	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0001541	HP:0001541	Ascites	0	MPV17 CL E G H	4358	7224	OMIM:256810	Navajo neurohepatopathy		56
HP:0001541	HP:0001541	Ascites	0	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5	.	25
HP:0001541	HP:0001541	Ascites	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	1
HP:0001541	HP:0001541	Ascites	0	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4	.	1143
HP:0001541	HP:0001541	Ascites	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040282 - Frequent	43
HP:0001541	HP:0001541	Ascites	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.	43
HP:0001541	HP:0001541	Ascites	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	452
HP:0001541	HP:0001541	Ascites	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1		258
HP:0001541	HP:0001541	Ascites	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2		33
HP:0001541	HP:0001541	Ascites	0	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5		14
HP:0001541	HP:0001541	Ascites	0	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare	14
HP:0001541	HP:0001541	Ascites	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.	73
HP:0001541	HP:0001541	Ascites	0	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III	.	36
HP:0001541	HP:0001541	Ascites	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0001541	HP:0001541	Ascites	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040283 - Occasional	563
HP:0001541	HP:0001541	Ascites	0	PKHD1 CL E G H	5314	9016	ORPHA:53035	Caroli disease	HP:0040283 - Occasional	563
HP:0001541	HP:0001541	Ascites	0	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0001541	HP:0001541	Ascites	0	POU2AF1 CL E G H	5450	9211	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0001541	HP:0001541	Ascites	0	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome		6
HP:0001541	HP:0001541	Ascites	0	PRKAG2 CL E G H	51422	9386	OMIM:261740	Glycogen storage disease of heart, lethal congenital	.	235
HP:0001541	HP:0001541	Ascites	0	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma	HP:0040283 - Occasional	134
HP:0001541	HP:0001541	Ascites	0	PRKCSH CL E G H	5589	9411	OMIM:174050	Polycystic liver disease 1 with or without kidney cysts	.	63
HP:0001541	HP:0001541	Ascites	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional	3
HP:0001541	HP:0001541	Ascites	0	RHBDF2 CL E G H	79651	20788	ORPHA:2198	Palmoplantar keratoderma-esophageal carcinoma syndrome	HP:0040282 - Frequent	80
HP:0001541	HP:0001541	Ascites	0	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced		16
HP:0001541	HP:0001541	Ascites	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001541	HP:0001541	Ascites	0	RUNX1 CL E G H	861	10471	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	181
HP:0001541	HP:0001541	Ascites	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional	77
HP:0001541	HP:0001541	Ascites	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent
HP:0001541	HP:0001541	Ascites	0	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease	.	78
HP:0001541	HP:0001541	Ascites	0	SMPD1 CL E G H	6609	11120	OMIM:257200	Niemann-Pick disease, type A		164
HP:0001541	HP:0001541	Ascites	0	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040283 - Occasional	7
HP:0001541	HP:0001541	Ascites	0	SP110 CL E G H	3431	5401	ORPHA:79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	HP:0040283 - Occasional	49
HP:0001541	HP:0001541	Ascites	0	SPIB CL E G H	6689	11242	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0001541	HP:0001541	Ascites	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional
HP:0001541	HP:0001541	Ascites	0	SRSF2 CL E G H	6427	10783	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	1
HP:0001541	HP:0001541	Ascites	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040283 - Occasional	2
HP:0001541	HP:0001541	Ascites	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0001541	HP:0001541	Ascites	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	241
HP:0001541	HP:0001541	Ascites	0	TET2 CL E G H	54790	25941	ORPHA:98850	Aggressive systemic mastocytosis	HP:0040283 - Occasional	3
HP:0001541	HP:0001541	Ascites	0	TFAM CL E G H	7019	11741	OMIM:617156	Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)	.	1
HP:0001541	HP:0001541	Ascites	0	TMEM67 CL E G H	91147	28396	ORPHA:84081	Senior-Boichis syndrome		166
HP:0001541	HP:0001541	Ascites	0	TNFSF15 CL E G H	9966	11931	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional
HP:0001541	HP:0001541	Ascites	0	TNPO3 CL E G H	23534	17103	ORPHA:186	Primary biliary cholangitis	HP:0040283 - Occasional	71
HP:0001541	HP:0001541	Ascites	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0001541	HP:0001541	Ascites	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	2
HP:0001541	HP:0001541	Ascites	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	1090
HP:0001541	HP:0001541	Ascites	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional	2738
HP:0001541	HP:0001541	Ascites	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001541	HP:0001541	Ascites	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2	.	2
HP:0001541	HP:0001541	Ascites	0	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly	.	136
HP:0001541	HP:0001541	Ascites	0	WT1 CL E G H	7490	12796	ORPHA:83469	Desmoplastic small round cell tumor	HP:0040283 - Occasional	177
HP:0001541	HP:0031780	Eosinophilic ascites	1	CL E G H
HP:0001541	HP:0025673	Loculated ascites	1	CL E G H
HP:0001541	HP:0012281	Chylous ascites	1	CL E G H
HP:0001541	HP:0001791	Fetal ascites	1	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0001541	HP:0001791	Fetal ascites	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001541	HP:0001791	Fetal ascites	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency	.	98
HP:0001541	HP:0001791	Fetal ascites	1	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0001541	HP:0001791	Fetal ascites	1	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1	.	258
HP:0001541	HP:0001791	Fetal ascites	1	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.	33
HP:0001541	HP:0001791	Fetal ascites	1	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced		16

Genes (118) :ABCB11 ABCB4 ABCC6 ADAMTS3 AGGF1 ALG8 ALG9 ARHGAP31 ARL6IP6 ASAH1 ASXL1 ATP6AP2 ATP7B ATP8B1 BMP2 BUB1 BUB1B BUB3 CALR CBL CCBE1 CD27 CD55 CEP57 CYBB DCDC2 DEF6 DGUOK DIS3L2 DLL4 DNASE1L3 DOCK6 DZIP1L EIF2AK3 EIF5A ENPP1 EOGT ERCC4 EWSR1 F5 FAH FAM111A FARSB FAT4 FLI1 FOCAD FSHR GALT GBA1 GBE1 GIMAP5 GNA11 GNB2 GPR35 GUSB HFE HSD17B4 IL12A IL12RB1 IRAK1 IRF5 JAK2 KIF20A KRT18 LBR LIPA MDFIC MEFV MMEL1 MPV17 MRPS22 MST1 MYBPC3 NEU1 NOTCH1 NPC1 NPC2 NR1H4 OSTM1 PIEZO1 PIGA PKHD1 PLVAP POU2AF1 PRG4 PRKAG2 PRKAR1A PRKCSH RBPJ RHBDF2 RHD RNU7-1 RUNX1 SCARB2 SEMA4D SLC17A5 SMPD1 SOX18 SP110 SPIB SPP1 SRSF2 STAT4 TAPT1 TCF4 TET2 TFAM TMEM67 TNFSF15 TNPO3 TRIM37 TRIP13 TSC1 TSC2 TTC26 USP18 WDR35 WT1

Diseases (85) :ORPHA:69665 ORPHA:51608 ORPHA:2136 ORPHA:90308 ORPHA:79325 OMIM:608104 OMIM:608776 ORPHA:974 ORPHA:1556 ORPHA:333 ORPHA:98850 OMIM:301045 OMIM:277900 OMIM:235200 ORPHA:1052 ORPHA:131 OMIM:615122 OMIM:226300 OMIM:306400 OMIM:617394 ORPHA:84081 OMIM:619573 OMIM:251880 OMIM:267000 ORPHA:36412 ORPHA:731 ORPHA:1667 OMIM:619376 OMIM:610965 ORPHA:83469 OMIM:276700 OMIM:602361 OMIM:613658 ORPHA:370348 OMIM:619991 OMIM:608115 ORPHA:64739 ORPHA:79239 ORPHA:77259 OMIM:608013 OMIM:232500 OMIM:619463 OMIM:619503 ORPHA:171 ORPHA:584 OMIM:261515 ORPHA:186 ORPHA:93552 OMIM:619433 OMIM:215600 ORPHA:779 ORPHA:75233 OMIM:620014 ORPHA:342 OMIM:256810 OMIM:611719 OMIM:115197 ORPHA:93400 OMIM:256550 OMIM:257220 OMIM:607625 OMIM:617049 OMIM:259720 OMIM:616843 OMIM:301072 ORPHA:53035 OMIM:618183 ORPHA:2848 OMIM:261740 ORPHA:615 OMIM:174050 ORPHA:2198 OMIM:619462 OMIM:619487 OMIM:269920 OMIM:257200 ORPHA:69735 ORPHA:79124 OMIM:616897 OMIM:617156 OMIM:253250 ORPHA:538 OMIM:619534 OMIM:617397 OMIM:614091

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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