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 prenatal development or birth (HP:0001197)

Parent Node:
Abnormality of the amniotic fluid (HP:0001560)

..Starting node
..Polyhydramnios (HP:0001561)

Term ID:

1561

Name:

Polyhydramnios

Synonym:

High levels of amniotic fluid; Hydramnios

Definition:

The presence of excess amniotic fluid in the uterus during pregnancy.

Comments:

Reference:

HP:0001561

Genes and Diseases:

Child Nodes:

Sister Nodes:

Fetal polyuria (HP:0001563)

Meconium stained amniotic fluid (HP:0012420)

Oligohydramnios (HP:0001562)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0001561	HP:0001561	Polyhydramnios	0	ACTA1 CL E G H	58	171433				ORPHA	1	392	129	102610
HP:0001561	HP:0001561	Polyhydramnios	0	ACTA1 CL E G H	58	171430				ORPHA	1	392	129	102610
HP:0001561	HP:0001561	Polyhydramnios	0	ACTA1 CL E G H	58	161800	Nemaline myopathy 3	161800	C3711389	OMIM	1	392	129	102610
HP:0001561	HP:0001561	Polyhydramnios	0	ACTG2 CL E G H	72	2241	Factor XI deficiency, congenital			ORPHA	1	75	145	102545
HP:0001561	HP:0001561	Polyhydramnios	0	ACTG2 CL E G H	72	155310	Visceral myopathy	155310	C1835084	OMIM	1	75	145	102545
HP:0001561	HP:0001561	Polyhydramnios	0	ADGRG6 CL E G H	57211	616503	Lethal congenital contracture syndrome 9	616503	C4225303	OMIM	1	96	13841	612243
HP:0001561	HP:0001561	Polyhydramnios	0	ALPL CL E G H	249	241500	Infantile hypophosphatasia	241500	C0268412	OMIM	1	787	438	171760
HP:0001561	HP:0001561	Polyhydramnios	0	AMER1 CL E G H	139285	300373	Osteopathia striata with cranial sclerosis	300373	C0432268	OMIM	1	293	26837	300647
HP:0001561	HP:0001561	Polyhydramnios	0	ASXL1 CL E G H	171023	605039	C-like syndrome	605039	C0796232	OMIM	1	503	18318	612990
HP:0001561	HP:0001561	Polyhydramnios	0	B3GLCT CL E G H	145173	261540	Peters plus syndrome	261540	C0796012	OMIM	1	266	20207	610308
HP:0001561	HP:0001561	Polyhydramnios	0	BIN1 CL E G H	274	169189				ORPHA	1	552	1052	601248
HP:0001561	HP:0001561	Polyhydramnios	0	BRAF CL E G H	673	115150	Cardiofaciocutaneous syndrome 1	115150	CN029449	OMIM	1	948	1097	164757
HP:0001561	HP:0001561	Polyhydramnios	0	BSND CL E G H	7809	602522	Bartter syndrome type 4	602522	C1865270	OMIM	1	249	16512	606412
HP:0001561	HP:0001561	Polyhydramnios	0	BUB1 CL E G H	699	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	789	1148	602452
HP:0001561	HP:0001561	Polyhydramnios	0	BUB1B CL E G H	701	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	1250	1149	602860
HP:0001561	HP:0001561	Polyhydramnios	0	BUB3 CL E G H	9184	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	299	1151	603719
HP:0001561	HP:0001561	Polyhydramnios	0	CEP57 CL E G H	9702	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	311	30794	607951
HP:0001561	HP:0001561	Polyhydramnios	0	CHD7 CL E G H	55636	138				ORPHA	1	2318	20626	608892
HP:0001561	HP:0001561	Polyhydramnios	0	CHRNA1 CL E G H	1134	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	398	1955	100690
HP:0001561	HP:0001561	Polyhydramnios	0	CHRND CL E G H	1144	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	408	1965	100720
HP:0001561	HP:0001561	Polyhydramnios	0	CHRNG CL E G H	1146	253290	Lethal multiple pterygium syndrome	253290	C1854678	OMIM	1	220	1967	100730
HP:0001561	HP:0001561	Polyhydramnios	0	CLCNKA CL E G H	1187	613090	Bartter syndrome, type 4b	613090	C2751312	OMIM	1	184	2026	602024
HP:0001561	HP:0001561	Polyhydramnios	0	CLCNKB CL E G H	1188	613090	Bartter syndrome, type 4b	613090	C2751312	OMIM	1	369	2027	602023
HP:0001561	HP:0001561	Polyhydramnios	0	CNTN1 CL E G H	1272	612540	Myopathy, congenital, compton-north	612540	C2675527	OMIM	1	476	2171	600016
HP:0001561	HP:0001561	Polyhydramnios	0	CNTNAP1 CL E G H	8506	616286	Lethal congenital contracture syndrome 7	616286	C4225386	OMIM	1	267	8011	602346
HP:0001561	HP:0001561	Polyhydramnios	0	COL2A1 CL E G H	1280	85166				ORPHA	1	1820	2200	120140
HP:0001561	HP:0001561	Polyhydramnios	0	COL2A1 CL E G H	1280	93296				ORPHA	1	1820	2200	120140
HP:0001561	HP:0001561	Polyhydramnios	0	COL2A1 CL E G H	1280	200610	Achondrogenesis, type II	200610	C0220685	OMIM	1	1820	2200	120140
HP:0001561	HP:0001561	Polyhydramnios	0	CRB2 CL E G H	286204	219730	Ventriculomegaly with cystic kidney disease	219730	C1857423	OMIM	1	420	18688	609720
HP:0001561	HP:0001561	Polyhydramnios	0	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1255	2348	600140
HP:0001561	HP:0001561	Polyhydramnios	0	DHCR7 CL E G H	1717	818				ORPHA	1	648	2860	602858
HP:0001561	HP:0001561	Polyhydramnios	0	DIS3L2 CL E G H	129563	267000	Renal hamartomas nephroblastomatosis and fetal gigantism	267000	C0796113	OMIM	1	1714	28648	614184
HP:0001561	HP:0001561	Polyhydramnios	0	DMPK CL E G H	1760	160900	Steinert myotonic dystrophy syndrome	160900	C3250443	OMIM	1	235	2933	605377
HP:0001561	HP:0001561	Polyhydramnios	0	DNM2 CL E G H	1785	169189				ORPHA	1	885	2974	602378
HP:0001561	HP:0001561	Polyhydramnios	0	DNM2 CL E G H	1785	615368	Lethal congenital contracture syndrome 5	615368	C3809272	OMIM	1	885	2974	602378
HP:0001561	HP:0001561	Polyhydramnios	0	DOK7 CL E G H	285489	994				ORPHA	1	840	26594	610285
HP:0001561	HP:0001561	Polyhydramnios	0	DOK7 CL E G H	285489	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	840	26594	610285
HP:0001561	HP:0001561	Polyhydramnios	0	DYNC2LI1 CL E G H	51626	617088	Short-rib thoracic dysplasia 15 with polydactyly	617088	C4310724	OMIM	1	414	24595	617083
HP:0001561	HP:0001561	Polyhydramnios	0	EBP CL E G H	10682	302960	Chondrodysplasia punctata 2 X-linked dominant	302960	C0282102	OMIM	1	291	3133	300205
HP:0001561	HP:0001561	Polyhydramnios	0	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	835	3373	602700
HP:0001561	HP:0001561	Polyhydramnios	0	ERBB3 CL E G H	2065	607598	Lethal congenital contracture syndrome 2	607598	C1843478	OMIM	1	97	3431	190151
HP:0001561	HP:0001561	Polyhydramnios	0	ERF CL E G H	2077	617180	Chitayat syndrome	617180	C4310679	OMIM	1	131	3444	611888
HP:0001561	HP:0001561	Polyhydramnios	0	ESCO2 CL E G H	157570	268300	Roberts-SC phocomelia syndrome	268300	C0392475	OMIM	1	435	27230	609353
HP:0001561	HP:0001561	Polyhydramnios	0	FANCB CL E G H	2187	3412				ORPHA	1	516	3583	300515
HP:0001561	HP:0001561	Polyhydramnios	0	FGFR3 CL E G H	2261	93274				ORPHA	1	746	3690	134934
HP:0001561	HP:0001561	Polyhydramnios	0	FGFR3 CL E G H	2261	1860				ORPHA	1	746	3690	134934
HP:0001561	HP:0001561	Polyhydramnios	0	FGFR3 CL E G H	2261	187600	Thanatophoric dysplasia type 1	187600	C1868678	OMIM	1	746	3690	134934
HP:0001561	HP:0001561	Polyhydramnios	0	FGFR3 CL E G H	2261	187601	Thanatophoric dysplasia, type 2	187601	C1300257	OMIM	1	746	3690	134934
HP:0001561	HP:0001561	Polyhydramnios	0	FIG4 CL E G H	9896	216340	Yunis Varon syndrome	216340	C1857663	OMIM	1	749	16873	609390
HP:0001561	HP:0001561	Polyhydramnios	0	FLNB CL E G H	2317	1263				ORPHA	1	1155	3755	603381
HP:0001561	HP:0001561	Polyhydramnios	0	FLNB CL E G H	2317	108720	Atelosteogenesis type 1	108720	C0265283	OMIM	1	1155	3755	603381
HP:0001561	HP:0001561	Polyhydramnios	0	FLVCR2 CL E G H	55640	225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	225790	C1856972	OMIM	1	141	20105	610865
HP:0001561	HP:0001561	Polyhydramnios	0	FOXE1 CL E G H	2304	241850	Bamforth syndrome	241850	C1855794	OMIM	1	71	3806	602617
HP:0001561	HP:0001561	Polyhydramnios	0	FOXE1 CL E G H	2304	1226	Cervical hypertrichosis peripheral neuropathy			ORPHA	1	71	3806	602617
HP:0001561	HP:0001561	Polyhydramnios	0	FOXF1 CL E G H	2294	265380	Persistent fetal circulation	265380	C0031190	OMIM	1	152	3809	601089
HP:0001561	HP:0001561	Polyhydramnios	0	GBA CL E G H	2629	608013	Gaucher disease, perinatal lethal	608013	C1842704	OMIM	1		4177	606463
HP:0001561	HP:0001561	Polyhydramnios	0	GBE1 CL E G H	2632	232500	Glycogen storage disease, type IV	232500	C0017923	OMIM	1	600	4180	607839
HP:0001561	HP:0001561	Polyhydramnios	0	GLE1 CL E G H	2733	1486	Congenital herpes simplex			ORPHA	1	382	4315	603371
HP:0001561	HP:0001561	Polyhydramnios	0	GPC3 CL E G H	2719	373	Quinquaud's decalvans folliculitis			ORPHA	1	855	4451	300037
HP:0001561	HP:0001561	Polyhydramnios	0	GPC4 CL E G H	2239	373	Quinquaud's decalvans folliculitis			ORPHA	1	214	4452	300168
HP:0001561	HP:0001561	Polyhydramnios	0	HBA1 CL E G H	3039	163596				ORPHA	1	379	4823	141800
HP:0001561	HP:0001561	Polyhydramnios	0	HBA2 CL E G H	3040	163596				ORPHA	1	333	4824	141850
HP:0001561	HP:0001561	Polyhydramnios	0	HIC1 CL E G H	3090	531	Acute myeloblastic leukemia type 6			ORPHA	1	73	4909	603825
HP:0001561	HP:0001561	Polyhydramnios	0	HOXD13 CL E G H	3239	887	Biliary atresia intrahepatic non syndromic form			ORPHA	1	117	5136	142989
HP:0001561	HP:0001561	Polyhydramnios	0	HRAS CL E G H	3265	3071				ORPHA	1	547	5173	190020
HP:0001561	HP:0001561	Polyhydramnios	0	HRAS CL E G H	3265	218040	Costello syndrome	218040	C0587248	OMIM	1	547	5173	190020
HP:0001561	HP:0001561	Polyhydramnios	0	HSD17B4 CL E G H	3295	261515	Bifunctional peroxisomal enzyme deficiency	261515	C0342870	OMIM	1	786	5213	601860
HP:0001561	HP:0001561	Polyhydramnios	0	HYLS1 CL E G H	219844	2189				ORPHA	1	229	26558	610693
HP:0001561	HP:0001561	Polyhydramnios	0	IBA57 CL E G H	200205	615330	Multiple mitochondrial dysfunctions syndrome 3	615330	C3809165	OMIM	1	178	27302	615316
HP:0001561	HP:0001561	Polyhydramnios	0	INPPL1 CL E G H	3636	3144	Krieble Bixler syndrome			ORPHA	1	295	6080	600829
HP:0001561	HP:0001561	Polyhydramnios	0	INPPL1 CL E G H	3636	258480	Opsismodysplasia	258480	C0432219	OMIM	1	295	6080	600829
HP:0001561	HP:0001561	Polyhydramnios	0	ITGA6 CL E G H	3655	79403				ORPHA	1	215	6142	147556
HP:0001561	HP:0001561	Polyhydramnios	0	ITGA6 CL E G H	3655	226730	Epidermolysis bullosa junctionalis with pyloric atresia	226730	C1856934	OMIM	1	215	6142	147556
HP:0001561	HP:0001561	Polyhydramnios	0	ITGB4 CL E G H	3691	158684				ORPHA	1	439	6158	147557
HP:0001561	HP:0001561	Polyhydramnios	0	ITGB4 CL E G H	3691	79403				ORPHA	1	439	6158	147557
HP:0001561	HP:0001561	Polyhydramnios	0	ITGB4 CL E G H	3691	226730	Epidermolysis bullosa junctionalis with pyloric atresia	226730	C1856934	OMIM	1	439	6158	147557
HP:0001561	HP:0001561	Polyhydramnios	0	KAT6B CL E G H	23522	3047				ORPHA	1	605	17582	605880
HP:0001561	HP:0001561	Polyhydramnios	0	KAT6B CL E G H	23522	606170	Genitopatellar syndrome	606170	C1853566	OMIM	1	605	17582	605880
HP:0001561	HP:0001561	Polyhydramnios	0	KCNJ1 CL E G H	3758	241200	Bartter syndrome, type 2, antenatal	241200	C1855849	OMIM	1	213	6255	600359
HP:0001561	HP:0001561	Polyhydramnios	0	KCNJ6 CL E G H	3763	435628				ORPHA	1	122	6267	600877
HP:0001561	HP:0001561	Polyhydramnios	0	KIAA0586 CL E G H	9786	616546	Short-rib thoracic dysplasia 14 with polydactyly	616546	C4225286	OMIM	1	828	19960	610178
HP:0001561	HP:0001561	Polyhydramnios	0	KIF7 CL E G H	374654	2189				ORPHA	1	977	30497	611254
HP:0001561	HP:0001561	Polyhydramnios	0	KLHL40 CL E G H	131377	171430				ORPHA	1	378	30372	615340
HP:0001561	HP:0001561	Polyhydramnios	0	KLHL41 CL E G H	10324	171430				ORPHA	1	220	16905	607701
HP:0001561	HP:0001561	Polyhydramnios	0	KLHL41 CL E G H	10324	171433				ORPHA	1	220	16905	607701
HP:0001561	HP:0001561	Polyhydramnios	0	KRAS CL E G H	3845	3339				ORPHA	1	440	6407	190070
HP:0001561	HP:0001561	Polyhydramnios	0	LBR CL E G H	3930	215140	Greenberg dysplasia	215140	C2931048	OMIM	1	285	6518	600024
HP:0001561	HP:0001561	Polyhydramnios	0	LMNA CL E G H	4000	275210	Lethal tight skin contracture syndrome	275210	C0406585	OMIM	1	1622	6636	150330
HP:0001561	HP:0001561	Polyhydramnios	0	LMOD1 CL E G H	25802	2241	Factor XI deficiency, congenital			ORPHA	1	33	6647	602715
HP:0001561	HP:0001561	Polyhydramnios	0	LMOD3 CL E G H	56203	171430				ORPHA	1	326	6649	616112
HP:0001561	HP:0001561	Polyhydramnios	0	LMOD3 CL E G H	56203	616165	Nemaline myopathy 10	616165	C4015360	OMIM	1	326	6649	616112
HP:0001561	HP:0001561	Polyhydramnios	0	LONP1 CL E G H	9361	600373	CODAS syndrome	600373	C1838180	OMIM	1	501	9479	605490
HP:0001561	HP:0001561	Polyhydramnios	0	MAGED2 CL E G H	10916	300971	Bartter syndrome, type 5, antenatal, transient	300971	C4310820	OMIM	1	186	16353	300470
HP:0001561	HP:0001561	Polyhydramnios	0	MTM1 CL E G H	4534	310400	Severe X-linked myotubular myopathy	310400	C0410203	OMIM	1	720	7448	300415
HP:0001561	HP:0001561	Polyhydramnios	0	MTMR14 CL E G H	64419	169189				ORPHA	1	156	26190	611089
HP:0001561	HP:0001561	Polyhydramnios	0	MUSK CL E G H	4593	994				ORPHA	1	496	7525	601296
HP:0001561	HP:0001561	Polyhydramnios	0	MUSK CL E G H	4593	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	496	7525	601296
HP:0001561	HP:0001561	Polyhydramnios	0	MYCN CL E G H	4613	164280	Feingold syndrome 1	164280	C0796068	OMIM	1	146	7559	164840
HP:0001561	HP:0001561	Polyhydramnios	0	MYF6 CL E G H	4618	169189				ORPHA	1	78	7566	159991
HP:0001561	HP:0001561	Polyhydramnios	0	MYH11 CL E G H	4629	2241	Factor XI deficiency, congenital			ORPHA	1	2721	7569	160745
HP:0001561	HP:0001561	Polyhydramnios	0	MYLK CL E G H	4638	2241	Factor XI deficiency, congenital			ORPHA	1	1445	7590	600922
HP:0001561	HP:0001561	Polyhydramnios	0	MYOD1 CL E G H	4654	994				ORPHA	1	35	7611	159970
HP:0001561	HP:0001561	Polyhydramnios	0	NEB CL E G H	4703	171433				ORPHA	1	6444	7720	161650
HP:0001561	HP:0001561	Polyhydramnios	0	NEB CL E G H	4703	171430				ORPHA	1	6444	7720	161650
HP:0001561	HP:0001561	Polyhydramnios	0	NEB CL E G H	4703	256030	Nemaline myopathy 2	256030	C1850569	OMIM	1	6444	7720	161650
HP:0001561	HP:0001561	Polyhydramnios	0	NPHP3 CL E G H	27031	3032				ORPHA	1	886	7907	608002
HP:0001561	HP:0001561	Polyhydramnios	0	OTX2 CL E G H	5015	990				ORPHA	1	188	8522	600037
HP:0001561	HP:0001561	Polyhydramnios	0	PAFAH1B1 CL E G H	5048	531	Acute myeloblastic leukemia type 6			ORPHA	1	439	8574	601545
HP:0001561	HP:0001561	Polyhydramnios	0	PHGDH CL E G H	26227	2671	Herrmann Opitz craniosynostosis			ORPHA	1	519	8923	606879
HP:0001561	HP:0001561	Polyhydramnios	0	PHGDH CL E G H	26227	256520	Neu-Laxova syndrome 1	256520	CN032230	OMIM	1	519	8923	606879
HP:0001561	HP:0001561	Polyhydramnios	0	PIEZO1 CL E G H	9780	616843	Lymphedema, hereditary, III	616843	C4225184	OMIM	1	931	28993	611184
HP:0001561	HP:0001561	Polyhydramnios	0	PIGN CL E G H	23556	2059				ORPHA	1	857	8967	606097
HP:0001561	HP:0001561	Polyhydramnios	0	PIGN CL E G H	23556	614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	614080	C3279775	OMIM	1	857	8967	606097
HP:0001561	HP:0001561	Polyhydramnios	0	PIGY CL E G H	84992	616809	Hyperphosphatasia with mental retardation syndrome 6	616809	C4225201	OMIM	1	36	28213	610662
HP:0001561	HP:0001561	Polyhydramnios	0	PLEC CL E G H	5339	158684				ORPHA	1	4152	9069	601282
HP:0001561	HP:0001561	Polyhydramnios	0	PLEC CL E G H	5339	226730	Epidermolysis bullosa junctionalis with pyloric atresia	226730	C1856934	OMIM	1	4152	9069	601282
HP:0001561	HP:0001561	Polyhydramnios	0	PLEC CL E G H	5339	612138	Epidermolysis bullosa simplex with pyloric atresia	612138	C2677349	OMIM	1	4152	9069	601282
HP:0001561	HP:0001561	Polyhydramnios	0	PRRX1 CL E G H	5396	990				ORPHA	1	37	9142	167420
HP:0001561	HP:0001561	Polyhydramnios	0	PSAT1 CL E G H	29968	2671	Herrmann Opitz craniosynostosis			ORPHA	1	443	19129	610936
HP:0001561	HP:0001561	Polyhydramnios	0	PTH1R CL E G H	5745	50945				ORPHA	1	200	9608	168468
HP:0001561	HP:0001561	Polyhydramnios	0	PTH1R CL E G H	5745	215045	Chondrodysplasia Blomstrand type	215045	C1859148	OMIM	1	200	9608	168468
HP:0001561	HP:0001561	Polyhydramnios	0	RAPSN CL E G H	5913	994				ORPHA	1	433	9863	601592
HP:0001561	HP:0001561	Polyhydramnios	0	RAPSN CL E G H	5913	208150	Pena-Shokeir syndrome type I	208150	C1276035	OMIM	1	433	9863	601592
HP:0001561	HP:0001561	Polyhydramnios	0	RIT1 CL E G H	6016	615355	Noonan syndrome 8	615355	C3809233	OMIM	1	210	10023	609591
HP:0001561	HP:0001561	Polyhydramnios	0	RPL11 CL E G H	6135	612562	Diamond-Blackfan anemia 7	612562	C2675512	OMIM	1	125	10301	604175
HP:0001561	HP:0001561	Polyhydramnios	0	RSPO2 CL E G H	340419	3301	Lowry syndrome			ORPHA	1	55	28583	610575
HP:0001561	HP:0001561	Polyhydramnios	0	RYR1 CL E G H	6261	169189				ORPHA	1	5062	10483	180901
HP:0001561	HP:0001561	Polyhydramnios	0	RYR1 CL E G H	6261	255320	Minicore myopathy	255320	C1850674	OMIM	1	5062	10483	180901
HP:0001561	HP:0001561	Polyhydramnios	0	SEMA3E CL E G H	9723	138				ORPHA	1	451	10727	608166
HP:0001561	HP:0001561	Polyhydramnios	0	SHOC2 CL E G H	8036	607721	Noonan syndrome-like disorder with loose anagen hair 1	607721	C1843181	OMIM	1	360	15454	602775
HP:0001561	HP:0001561	Polyhydramnios	0	SIN3A CL E G H	25942	613406	Witteveen-kolk syndrome	613406	C3150674	OMIM	1	218	19353	607776
HP:0001561	HP:0001561	Polyhydramnios	0	SLC12A1 CL E G H	6557	601678	Bartter syndrome, type 1, antenatal	601678	C1866495	OMIM	1	358	10910	600839
HP:0001561	HP:0001561	Polyhydramnios	0	SLC25A26 CL E G H	115286	616794	Combined oxidative phosphorylation deficiency 28	616794	C4225206	OMIM	1	108	20661	611037
HP:0001561	HP:0001561	Polyhydramnios	0	SLC26A2 CL E G H	1836	93298				ORPHA	1	549	10994	606718
HP:0001561	HP:0001561	Polyhydramnios	0	SLC26A2 CL E G H	1836	600972	Achondrogenesis, type IB	600972	C0265274	OMIM	1	549	10994	606718
HP:0001561	HP:0001561	Polyhydramnios	0	SLC26A3 CL E G H	1811	214700	Congenital secretory diarrhea, chloride type	214700	C0267662	OMIM	1	356	3018	126650
HP:0001561	HP:0001561	Polyhydramnios	0	SLC35D1 CL E G H	23169	3144	Krieble Bixler syndrome			ORPHA	1	162	20800	610804
HP:0001561	HP:0001561	Polyhydramnios	0	SLC35D1 CL E G H	23169	269250	Schneckenbecken dysplasia	269250	C0432194	OMIM	1	162	20800	610804
HP:0001561	HP:0001561	Polyhydramnios	0	SMG9 CL E G H	56006	616920	Heart and brain malformation syndrome	616920	C4310793	OMIM	1	35	25763	613176
HP:0001561	HP:0001561	Polyhydramnios	0	SNRPB CL E G H	6628	117650	Cerebro-costo-mandibular syndrome	117650	C0265342	OMIM	1	74	11153	182282
HP:0001561	HP:0001561	Polyhydramnios	0	SOX17 CL E G H	64321	613674	Vesicoureteral reflux 3	613674	C3150927	OMIM	1	71	18122	610928
HP:0001561	HP:0001561	Polyhydramnios	0	SOX9 CL E G H	6662	114290	Camptomelic dysplasia	114290	C1861922	OMIM	1	280	11204	608160
HP:0001561	HP:0001561	Polyhydramnios	0	SPINT2 CL E G H	10653	270420	Congenital secretory diarrhea, sodium type	270420	C0267663	OMIM	1	99	11247	605124
HP:0001561	HP:0001561	Polyhydramnios	0	TAPT1 CL E G H	202018	616897	Osteochondrodysplasia, complex lethal, symoens-barnes-gistelinck type	616897	C4225162	OMIM	1	223	26887	612758
HP:0001561	HP:0001561	Polyhydramnios	0	TBC1D24 CL E G H	57465	79500				ORPHA	1	795	29203	613577
HP:0001561	HP:0001561	Polyhydramnios	0	TMCO1 CL E G H	54499	1394				ORPHA	1	65	18188	614123
HP:0001561	HP:0001561	Polyhydramnios	0	TMCO1 CL E G H	54499	213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	213980	C1859252	OMIM	1	65	18188	614123
HP:0001561	HP:0001561	Polyhydramnios	0	TPM3 CL E G H	7170	171433				ORPHA	1	300	12012	191030
HP:0001561	HP:0001561	Polyhydramnios	0	TRAIP CL E G H	10293	616777	Seckel syndrome 9	616777	C4225212	OMIM	1	47	30764	605958
HP:0001561	HP:0001561	Polyhydramnios	0	TRIP11 CL E G H	9321	93299				ORPHA	1	608	12305	604505
HP:0001561	HP:0001561	Polyhydramnios	0	TRIP11 CL E G H	9321	200600	Achondrogenesis, type IA	200600	C0265273	OMIM	1	608	12305	604505
HP:0001561	HP:0001561	Polyhydramnios	0	TRIP13 CL E G H	9319	1052	Mosaic variegated aneuploidy syndrome		C1850343	ORPHA	1	215	12307	604507
HP:0001561	HP:0001561	Polyhydramnios	0	TSEN54 CL E G H	283989	225753	Pontocerebellar hypoplasia type 4	225753	C1856974	OMIM	1	304	27561	608755
HP:0001561	HP:0001561	Polyhydramnios	0	TTC37 CL E G H	9652	222470	Trichohepatoenteric syndrome 1	222470	CN034858	OMIM	1		23639	614589
HP:0001561	HP:0001561	Polyhydramnios	0	TTC7A CL E G H	57217	436252				ORPHA	1	753	19750	609332
HP:0001561	HP:0001561	Polyhydramnios	0	TTC7A CL E G H	57217	2300	Fetal diethylstilbestrol syndrome			ORPHA	1	753	19750	609332
HP:0001561	HP:0001561	Polyhydramnios	0	TTC7A CL E G H	57217	243150	Multiple gastrointestinal atresias	243150	C0220744	OMIM	1	753	19750	609332
HP:0001561	HP:0001561	Polyhydramnios	0	WDR35 CL E G H	57539	613610	Cranioectodermal dysplasia 2	613610	C3150874	OMIM	1	523	29250	613602
HP:0001561	HP:0001561	Polyhydramnios	0	WDR60 CL E G H	55112	615503	Short-rib thoracic dysplasia 8 with or without polydactyly	615503	C3809691	OMIM	1		21862	615462
HP:0001561	HP:0001561	Polyhydramnios	0	WNT3 CL E G H	7473	3301	Lowry syndrome			ORPHA	1	69	12782	165330
HP:0001561	HP:0001561	Polyhydramnios	0	YWHAE CL E G H	7531	531	Acute myeloblastic leukemia type 6			ORPHA	1	177	12851	605066
HP:0001561	HP:0001561	Polyhydramnios	0	ZMPSTE24 CL E G H	10269	275210	Lethal tight skin contracture syndrome	275210	C0406585	OMIM	1	176	12877	606480
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001561	HP:0001561	Polyhydramnios	0	ACTA1 CL E G H	58	171439				ORPHA	0	392	129	102610
HP:0001561	HP:0001561	Polyhydramnios	0	ACTA1 CL E G H	58	2020				ORPHA	0	392	129	102610
HP:0001561	HP:0001561	Polyhydramnios	0	ACTA1 CL E G H	58	171436				ORPHA	0	392	129	102610
HP:0001561	HP:0001561	Polyhydramnios	0	AGRN CL E G H	375790	98914				ORPHA	0	1782	329	103320
HP:0001561	HP:0001561	Polyhydramnios	0	ALG9 CL E G H	79796	263210	Gillessen-Kaesbach-Nishimura syndrome	263210	C1849762	OMIM	0	236	15672	606941
HP:0001561	HP:0001561	Polyhydramnios	0	AQP2 CL E G H	359	223				ORPHA	0	285	634	107777
HP:0001561	HP:0001561	Polyhydramnios	0	ARVCF CL E G H	421	567				ORPHA	0	541	728	602269
HP:0001561	HP:0001561	Polyhydramnios	0	ASCC1 CL E G H	51008	616867	Spinal muscular atrophy with congenital bone fractures 2	616867	C4225176	OMIM	0	102	24268	614215
HP:0001561	HP:0001561	Polyhydramnios	0	ASCL1 CL E G H	429	99803	Haddad syndrome		C1859587	ORPHA	0	32	738	100790
HP:0001561	HP:0001561	Polyhydramnios	0	ASXL1 CL E G H	171023	97297				ORPHA	0	503	18318	612990
HP:0001561	HP:0001561	Polyhydramnios	0	AVPR2 CL E G H	554	223				ORPHA	0	383	897	300538
HP:0001561	HP:0001561	Polyhydramnios	0	B3GLCT CL E G H	145173	709				ORPHA	0	266	20207	610308
HP:0001561	HP:0001561	Polyhydramnios	0	CBL CL E G H	867	613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	613563	C3150803	OMIM	0	1056	1541	165360
HP:0001561	HP:0001561	Polyhydramnios	0	CD96 CL E G H	10225	1308	Chorioretinopathy dominant form microcephaly			ORPHA	0	72	16892	606037
HP:0001561	HP:0001561	Polyhydramnios	0	CFL2 CL E G H	1073	171436				ORPHA	0	147	1875	601443
HP:0001561	HP:0001561	Polyhydramnios	0	CHAT CL E G H	1103	98914				ORPHA	0	771	1912	118490
HP:0001561	HP:0001561	Polyhydramnios	0	COL13A1 CL E G H	1305	98914				ORPHA	0	397	2190	120350
HP:0001561	HP:0001561	Polyhydramnios	0	COMT CL E G H	1312	567				ORPHA	0	586	2228	116790
HP:0001561	HP:0001561	Polyhydramnios	0	ESCO2 CL E G H	157570	3103				ORPHA	0	435	27230	609353
HP:0001561	HP:0001561	Polyhydramnios	0	FIG4 CL E G H	9896	3472	Meningococcemia			ORPHA	0	749	16873	609390
HP:0001561	HP:0001561	Polyhydramnios	0	FLNB CL E G H	2317	56305				ORPHA	0	1155	3755	603381
HP:0001561	HP:0001561	Polyhydramnios	0	GP1BB CL E G H	2812	567				ORPHA	0	449	4440	138720
HP:0001561	HP:0001561	Polyhydramnios	0	HACD1 CL E G H	9200	2020				ORPHA	0	109	9639	610467
HP:0001561	HP:0001561	Polyhydramnios	0	HIRA CL E G H	7290	567				ORPHA	0	435	4916	600237
HP:0001561	HP:0001561	Polyhydramnios	0	HSPG2 CL E G H	3339	800				ORPHA	0	1830	5273	142461
HP:0001561	HP:0001561	Polyhydramnios	0	HYLS1 CL E G H	219844	236680	Hydrolethalus syndrome 1	236680	C1856016	OMIM	0	229	26558	610693
HP:0001561	HP:0001561	Polyhydramnios	0	ITGA7 CL E G H	3679	2020				ORPHA	0	718	6143	600536
HP:0001561	HP:0001561	Polyhydramnios	0	JMJD1C CL E G H	221037	567				ORPHA	0	971	12313	604503
HP:0001561	HP:0001561	Polyhydramnios	0	KBTBD13 CL E G H	390594	171439				ORPHA	0	431	37227	613727
HP:0001561	HP:0001561	Polyhydramnios	0	KIDINS220 CL E G H	57498	521390				ORPHA	0	311	29508	615759
HP:0001561	HP:0001561	Polyhydramnios	0	KLHL41 CL E G H	10324	171436				ORPHA	0	220	16905	607701
HP:0001561	HP:0001561	Polyhydramnios	0	KLHL41 CL E G H	10324	171439				ORPHA	0	220	16905	607701
HP:0001561	HP:0001561	Polyhydramnios	0	KLHL7 CL E G H	55975	97297				ORPHA	0	258	15646	611119
HP:0001561	HP:0001561	Polyhydramnios	0	LMNA CL E G H	4000	1662				ORPHA	0	1622	6636	150330
HP:0001561	HP:0001561	Polyhydramnios	0	LMOD3 CL E G H	56203	171436				ORPHA	0	326	6649	616112
HP:0001561	HP:0001561	Polyhydramnios	0	MAFB CL E G H	9935	2774	Hydrocephalus growth retardation skeletal anomalies			ORPHA	0	119	6408	608968
HP:0001561	HP:0001561	Polyhydramnios	0	MAP3K20 CL E G H	51776	2020				ORPHA	0	243	17797	609479
HP:0001561	HP:0001561	Polyhydramnios	0	MYH3 CL E G H	4621	2053	Ectodermal dysplasia neurosensory deafness			ORPHA	0	641	7573	160720
HP:0001561	HP:0001561	Polyhydramnios	0	MYH3 CL E G H	4621	193700	Freeman-Sheldon syndrome	193700	C0265224	OMIM	0	641	7573	160720
HP:0001561	HP:0001561	Polyhydramnios	0	MYL2 CL E G H	4633	2020				ORPHA	0	445	7583	160781
HP:0001561	HP:0001561	Polyhydramnios	0	MYO9A CL E G H	4649	98914				ORPHA	0	172	7608	604875
HP:0001561	HP:0001561	Polyhydramnios	0	MYPN CL E G H	84665	171439				ORPHA	0	1263	23246	608517
HP:0001561	HP:0001561	Polyhydramnios	0	NALCN CL E G H	259232	2053	Ectodermal dysplasia neurosensory deafness			ORPHA	0	653	19082	611549
HP:0001561	HP:0001561	Polyhydramnios	0	NEB CL E G H	4703	171439				ORPHA	0	6444	7720	161650
HP:0001561	HP:0001561	Polyhydramnios	0	NEB CL E G H	4703	171436				ORPHA	0	6444	7720	161650
HP:0001561	HP:0001561	Polyhydramnios	0	PHOX2B CL E G H	8929	99803	Haddad syndrome		C1859587	ORPHA	0	840	9143	603851
HP:0001561	HP:0001561	Polyhydramnios	0	PIGA CL E G H	5277	300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	300868	C3275508	OMIM	0	421	8957	311770
HP:0001561	HP:0001561	Polyhydramnios	0	RET CL E G H	5979	99803	Haddad syndrome		C1859587	ORPHA	0	2692	9967	164761
HP:0001561	HP:0001561	Polyhydramnios	0	RREB1 CL E G H	6239	567				ORPHA	0	175	10449	602209
HP:0001561	HP:0001561	Polyhydramnios	0	RYR1 CL E G H	6261	98905				ORPHA	0	5062	10483	180901
HP:0001561	HP:0001561	Polyhydramnios	0	SEC24C CL E G H	9632	567				ORPHA	0	25	10705	607185
HP:0001561	HP:0001561	Polyhydramnios	0	SELENON CL E G H	57190	2020				ORPHA	0	537	15999	606210
HP:0001561	HP:0001561	Polyhydramnios	0	SLC18A3 CL E G H	6572	98914				ORPHA	0	215	10936	600336
HP:0001561	HP:0001561	Polyhydramnios	0	SLC25A1 CL E G H	6576	98914				ORPHA	0	505	10979	190315
HP:0001561	HP:0001561	Polyhydramnios	0	SLC26A2 CL E G H	1836	56304				ORPHA	0	549	10994	606718
HP:0001561	HP:0001561	Polyhydramnios	0	SLC5A7 CL E G H	60482	98914				ORPHA	0	375	14025	608761
HP:0001561	HP:0001561	Polyhydramnios	0	SLC5A7 CL E G H	60482	617143	Myasthenic syndrome, congenital, 20, presynaptic	617143	C4310694	OMIM	0	375	14025	608761
HP:0001561	HP:0001561	Polyhydramnios	0	SLC9A3 CL E G H	6550	616868	Diarrhea 8, secretory sodium, congenital	616868	CN515063	OMIM	0	520	11073	182307
HP:0001561	HP:0001561	Polyhydramnios	0	SNAP25 CL E G H	6616	98914				ORPHA	0	191	11132	600322
HP:0001561	HP:0001561	Polyhydramnios	0	STRADA CL E G H	92335	611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy	611087	C1970203	OMIM	0	270	30172	608626
HP:0001561	HP:0001561	Polyhydramnios	0	SYT2 CL E G H	127833	98914				ORPHA	0	160	11510	600104
HP:0001561	HP:0001561	Polyhydramnios	0	TBX1 CL E G H	6899	567				ORPHA	0	972	11592	602054
HP:0001561	HP:0001561	Polyhydramnios	0	TBX18 CL E G H	9096	2190	Erythroblastopenia			ORPHA	0	70	11595	604613
HP:0001561	HP:0001561	Polyhydramnios	0	TPM2 CL E G H	7169	171436				ORPHA	0	280	12011	190990
HP:0001561	HP:0001561	Polyhydramnios	0	TPM2 CL E G H	7169	171439				ORPHA	0	280	12011	190990
HP:0001561	HP:0001561	Polyhydramnios	0	TPM2 CL E G H	7169	2020				ORPHA	0	280	12011	190990
HP:0001561	HP:0001561	Polyhydramnios	0	TPM3 CL E G H	7170	171439				ORPHA	0	300	12012	191030
HP:0001561	HP:0001561	Polyhydramnios	0	TPM3 CL E G H	7170	2020				ORPHA	0	300	12012	191030
HP:0001561	HP:0001561	Polyhydramnios	0	UFD1 CL E G H	7353	567				ORPHA	0	400	12520	601754
HP:0001561	HP:0001561	Polyhydramnios	0	VAC14 CL E G H	55697	3472	Meningococcemia			ORPHA	0	220	25507	604632
HP:0001561	HP:0001561	Polyhydramnios	0	VAMP1 CL E G H	6843	98914				ORPHA	0	118	12642	185880
HP:0001561	HP:0001561	Polyhydramnios	0	WDR34 CL E G H	89891	615633	Short-rib thoracic dysplasia 11 with or without polydactyly	615633	C3810200	OMIM	0		28296	613363
HP:0001561	HP:0001561	Polyhydramnios	0	ZMPSTE24 CL E G H	10269	1662				ORPHA	0	176	12877	606480

Genes (175) :ACTA1 ACTG2 ADGRG6 AGRN ALG9 ALPL AMER1 AQP2 ARVCF ASCC1 ASCL1 ASXL1 AVPR2 B3GLCT BIN1 BRAF BSND BUB1 BUB1B BUB3 CBL CD96 CEP57 CFL2 CHAT CHD7 CHRNA1 CHRND CHRNG CLCNKA CLCNKB CNTN1 CNTNAP1 COL13A1 COL2A1 COMT CRB2 CREBBP DHCR7 DIS3L2 DMPK DNM2 DOK7 DYNC2LI1 EBP EP300 ERBB3 ERF ESCO2 FANCB FGFR3 FIG4 FLNB FLVCR2 FOXE1 FOXF1 GBA GBE1 GLE1 GP1BB GPC3 GPC4 HACD1 HBA1 HBA2 HIC1 HIRA HOXD13 HRAS HSD17B4 HSPG2 HYLS1 IBA57 INPPL1 ITGA6 ITGA7 ITGB4 JMJD1C KAT6B KBTBD13 KCNJ1 KCNJ6 KIAA0586 KIDINS220 KIF7 KLHL40 KLHL41 KLHL7 KRAS LBR LMNA LMOD1 LMOD3 LONP1 MAFB MAGED2 MAP3K20 MTM1 MTMR14 MUSK MYCN MYF6 MYH11 MYH3 MYL2 MYLK MYO9A MYOD1 MYPN NALCN NEB NPHP3 OTX2 PAFAH1B1 PHGDH PHOX2B PIEZO1 PIGA PIGN PIGY PLEC PRRX1 PSAT1 PTH1R RAPSN RET RIT1 RPL11 RREB1 RSPO2 RYR1 SEC24C SELENON SEMA3E SHOC2 SIN3A SLC12A1 SLC18A3 SLC25A1 SLC25A26 SLC26A2 SLC26A3 SLC35D1 SLC5A7 SLC9A3 SMG9 SNAP25 SNRPB SOX17 SOX9 SPINT2 STRADA SYT2 TAPT1 TBC1D24 TBX1 TBX18 TMCO1 TPM2 TPM3 TRAIP TRIP11 TRIP13 TSEN54 TTC37 TTC7A UFD1 VAC14 VAMP1 WDR34 WDR35 WDR60 WNT3 YWHAE ZMPSTE24

Diseases (151) :171433 171430 171439 2020 171436 161800 2241 155310 616503 98914 263210 241500 300373 223 567 616867 99803 97297 605039 709 261540 169189 115150 602522 1052 613563 1308 138 253290 613090 612540 616286 93296 85166 200610 219730 180849 818 267000 160900 615368 994 208150 617088 302960 607598 617180 3103 268300 3412 93274 1860 187600 187601 3472 216340 1263 56305 108720 225790 241850 1226 265380 608013 232500 1486 373 163596 531 887 3071 218040 261515 800 2189 236680 615330 3144 258480 79403 226730 158684 3047 606170 241200 435628 616546 521390 3339 215140 1662 275210 616165 600373 2774 300971 310400 164280 2053 193700 256030 3032 990 2671 256520 616843 300868 2059 614080 616809 612138 50945 215045 615355 612562 3301 98905 255320 607721 613406 601678 616794 93298 56304 600972 214700 269250 617143 616868 616920 117650 613674 114290 270420 611087 616897 79500 2190 1394 213980 616777 93299 200600 225753 222470 436252 2300 243150 615633 613610 615503

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

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