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; Increased amniotic fluid index

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	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001561	HP:0001561	Polyhydramnios	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent		415
HP:0001561	HP:0001561	Polyhydramnios	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		96
HP:0001561	HP:0001561	Polyhydramnios	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0001561	HP:0001561	Polyhydramnios	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		96
HP:0001561	HP:0001561	Polyhydramnios	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.		96
HP:0001561	HP:0001561	Polyhydramnios	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		96
HP:0001561	HP:0001561	Polyhydramnios	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		96
HP:0001561	HP:0001561	Polyhydramnios	0	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040282 - Frequent		23
HP:0001561	HP:0001561	Polyhydramnios	0	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1	.		23
HP:0001561	HP:0001561	Polyhydramnios	0	ADAMTS3 CL E G H	9508	219	OMIM:618154	Hennekam lymphangiectasia-lymphedema syndrome 3	.		1
HP:0001561	HP:0001561	Polyhydramnios	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0001561	HP:0001561	Polyhydramnios	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional		9
HP:0001561	HP:0001561	Polyhydramnios	0	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9	.		5
HP:0001561	HP:0001561	Polyhydramnios	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		127
HP:0001561	HP:0001561	Polyhydramnios	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0001561	HP:0001561	Polyhydramnios	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040284 - Very rare		68
HP:0001561	HP:0001561	Polyhydramnios	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.		68
HP:0001561	HP:0001561	Polyhydramnios	0	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0001561	HP:0001561	Polyhydramnios	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0001561	HP:0001561	Polyhydramnios	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.		126
HP:0001561	HP:0001561	Polyhydramnios	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0001561	HP:0001561	Polyhydramnios	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0001561	HP:0001561	Polyhydramnios	0	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0001561	HP:0001561	Polyhydramnios	0	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040284 - Very rare		75
HP:0001561	HP:0001561	Polyhydramnios	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0001561	HP:0001561	Polyhydramnios	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0001561	HP:0001561	Polyhydramnios	0	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional		15
HP:0001561	HP:0001561	Polyhydramnios	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0001561	HP:0001561	Polyhydramnios	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0001561	HP:0001561	Polyhydramnios	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0001561	HP:0001561	Polyhydramnios	0	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD			239
HP:0001561	HP:0001561	Polyhydramnios	0	ATP6V0A1 CL E G H	535	865	OMIM:619971				1
HP:0001561	HP:0001561	Polyhydramnios	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent		5
HP:0001561	HP:0001561	Polyhydramnios	0	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040284 - Very rare		67
HP:0001561	HP:0001561	Polyhydramnios	0	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME			38
HP:0001561	HP:0001561	Polyhydramnios	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional		36
HP:0001561	HP:0001561	Polyhydramnios	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0001561	HP:0001561	Polyhydramnios	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		99
HP:0001561	HP:0001561	Polyhydramnios	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.		276
HP:0001561	HP:0001561	Polyhydramnios	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.		53
HP:0001561	HP:0001561	Polyhydramnios	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		53
HP:0001561	HP:0001561	Polyhydramnios	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent		5
HP:0001561	HP:0001561	Polyhydramnios	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent		76
HP:0001561	HP:0001561	Polyhydramnios	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent
HP:0001561	HP:0001561	Polyhydramnios	0	CALCRL CL E G H	10203	16709	OMIM:618773	LYMPHATIC MALFORMATION 8; LMPHM8			3
HP:0001561	HP:0001561	Polyhydramnios	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	HP:0040283 - Occasional		317
HP:0001561	HP:0001561	Polyhydramnios	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040283 - Occasional		83
HP:0001561	HP:0001561	Polyhydramnios	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001561	HP:0001561	Polyhydramnios	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0001561	HP:0001561	Polyhydramnios	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent		17
HP:0001561	HP:0001561	Polyhydramnios	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		35
HP:0001561	HP:0001561	Polyhydramnios	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		65
HP:0001561	HP:0001561	Polyhydramnios	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		515
HP:0001561	HP:0001561	Polyhydramnios	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0001561	HP:0001561	Polyhydramnios	0	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		74
HP:0001561	HP:0001561	Polyhydramnios	0	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		88
HP:0001561	HP:0001561	Polyhydramnios	0	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		68
HP:0001561	HP:0001561	Polyhydramnios	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0001561	HP:0001561	Polyhydramnios	0	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development	.		102
HP:0001561	HP:0001561	Polyhydramnios	0	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		9
HP:0001561	HP:0001561	Polyhydramnios	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		9
HP:0001561	HP:0001561	Polyhydramnios	0	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		27
HP:0001561	HP:0001561	Polyhydramnios	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		27
HP:0001561	HP:0001561	Polyhydramnios	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0001561	HP:0001561	Polyhydramnios	0	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north	.		40
HP:0001561	HP:0001561	Polyhydramnios	0	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7	.		9
HP:0001561	HP:0001561	Polyhydramnios	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.		9
HP:0001561	HP:0001561	Polyhydramnios	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040283 - Occasional		222
HP:0001561	HP:0001561	Polyhydramnios	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		6
HP:0001561	HP:0001561	Polyhydramnios	0	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II	.		284
HP:0001561	HP:0001561	Polyhydramnios	0	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type	HP:0040282 - Frequent		284
HP:0001561	HP:0001561	Polyhydramnios	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0001561	HP:0001561	Polyhydramnios	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040283 - Occasional		284
HP:0001561	HP:0001561	Polyhydramnios	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0001561	HP:0001561	Polyhydramnios	0	CRB2 CL E G H	286204	18688	OMIM:219730	Ventriculomegaly with cystic kidney disease	.		12
HP:0001561	HP:0001561	Polyhydramnios	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001561	HP:0001561	Polyhydramnios	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional		291
HP:0001561	HP:0001561	Polyhydramnios	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent		159
HP:0001561	HP:0001561	Polyhydramnios	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.		164
HP:0001561	HP:0001561	Polyhydramnios	0	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040281 - Very frequent		1
HP:0001561	HP:0001561	Polyhydramnios	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040281 - Very frequent		1
HP:0001561	HP:0001561	Polyhydramnios	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040281 - Very frequent		1
HP:0001561	HP:0001561	Polyhydramnios	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0001561	HP:0001561	Polyhydramnios	0	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1	.		152
HP:0001561	HP:0001561	Polyhydramnios	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		167
HP:0001561	HP:0001561	Polyhydramnios	0	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5	.		167
HP:0001561	HP:0001561	Polyhydramnios	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent		91
HP:0001561	HP:0001561	Polyhydramnios	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001561	HP:0001561	Polyhydramnios	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001561	HP:0001561	Polyhydramnios	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040283 - Occasional		26
HP:0001561	HP:0001561	Polyhydramnios	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0001561	HP:0001561	Polyhydramnios	0	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI	.
HP:0001561	HP:0001561	Polyhydramnios	0	DYNC2I2 CL E G H	89891	28296	OMIM:615633	Short-Rib thoracic dysplasia 11 with or without polydactyly	HP:0040283 - Occasional
HP:0001561	HP:0001561	Polyhydramnios	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	.		7
HP:0001561	HP:0001561	Polyhydramnios	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040284 - Very rare		134
HP:0001561	HP:0001561	Polyhydramnios	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.		51
HP:0001561	HP:0001561	Polyhydramnios	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent		151
HP:0001561	HP:0001561	Polyhydramnios	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001561	HP:0001561	Polyhydramnios	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional		250
HP:0001561	HP:0001561	Polyhydramnios	0	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2	.		12
HP:0001561	HP:0001561	Polyhydramnios	0	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome			12
HP:0001561	HP:0001561	Polyhydramnios	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040283 - Occasional		92
HP:0001561	HP:0001561	Polyhydramnios	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0001561	HP:0001561	Polyhydramnios	0	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040283 - Occasional		102
HP:0001561	HP:0001561	Polyhydramnios	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0001561	HP:0001561	Polyhydramnios	0	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked			58
HP:0001561	HP:0001561	Polyhydramnios	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040281 - Very frequent		58
HP:0001561	HP:0001561	Polyhydramnios	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001561	HP:0001561	Polyhydramnios	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0001561	HP:0001561	Polyhydramnios	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040282 - Frequent		145
HP:0001561	HP:0001561	Polyhydramnios	0	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2	HP:0040282 - Frequent		145
HP:0001561	HP:0001561	Polyhydramnios	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.		145
HP:0001561	HP:0001561	Polyhydramnios	0	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II	.		145
HP:0001561	HP:0001561	Polyhydramnios	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional		111
HP:0001561	HP:0001561	Polyhydramnios	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0001561	HP:0001561	Polyhydramnios	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0001561	HP:0001561	Polyhydramnios	0	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040283 - Occasional		233
HP:0001561	HP:0001561	Polyhydramnios	0	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040283 - Occasional		233
HP:0001561	HP:0001561	Polyhydramnios	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.		233
HP:0001561	HP:0001561	Polyhydramnios	0	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia	HP:0040282 - Frequent		233
HP:0001561	HP:0001561	Polyhydramnios	0	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	.		47
HP:0001561	HP:0001561	Polyhydramnios	0	FOXE1 CL E G H	2304	3806	ORPHA:1226	Bamforth-Lazarus syndrome	HP:0040281 - Very frequent		9
HP:0001561	HP:0001561	Polyhydramnios	0	FOXE1 CL E G H	2304	3806	OMIM:241850	Hypothyroidism, athyroidal, with spiky hair and cleft palate	.		9
HP:0001561	HP:0001561	Polyhydramnios	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001561	HP:0001561	Polyhydramnios	0	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	.		3
HP:0001561	HP:0001561	Polyhydramnios	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0001561	HP:0001561	Polyhydramnios	0	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV	.		86
HP:0001561	HP:0001561	Polyhydramnios	0	GLDN CL E G H	342035	29514	OMIM:617194	Lethal congenital contracture syndrome 11	.		6
HP:0001561	HP:0001561	Polyhydramnios	0	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1	HP:0040282 - Frequent		45
HP:0001561	HP:0001561	Polyhydramnios	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0001561	HP:0001561	Polyhydramnios	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent		73
HP:0001561	HP:0001561	Polyhydramnios	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0001561	HP:0001561	Polyhydramnios	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0001561	HP:0001561	Polyhydramnios	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001561	HP:0001561	Polyhydramnios	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0001561	HP:0001561	Polyhydramnios	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0001561	HP:0001561	Polyhydramnios	0	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040282 - Frequent		200
HP:0001561	HP:0001561	Polyhydramnios	0	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040282 - Frequent		88
HP:0001561	HP:0001561	Polyhydramnios	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0001561	HP:0001561	Polyhydramnios	0	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome	HP:0040282 - Frequent
HP:0001561	HP:0001561	Polyhydramnios	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0001561	HP:0001561	Polyhydramnios	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040281 - Very frequent		25
HP:0001561	HP:0001561	Polyhydramnios	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0001561	HP:0001561	Polyhydramnios	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040282 - Frequent		113
HP:0001561	HP:0001561	Polyhydramnios	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency	.		98
HP:0001561	HP:0001561	Polyhydramnios	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional		345
HP:0001561	HP:0001561	Polyhydramnios	0	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus	HP:0040281 - Very frequent		31
HP:0001561	HP:0001561	Polyhydramnios	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0001561	HP:0001561	Polyhydramnios	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.		16
HP:0001561	HP:0001561	Polyhydramnios	0	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13			8
HP:0001561	HP:0001561	Polyhydramnios	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	.		18
HP:0001561	HP:0001561	Polyhydramnios	0	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent		18
HP:0001561	HP:0001561	Polyhydramnios	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001561	HP:0001561	Polyhydramnios	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001561	HP:0001561	Polyhydramnios	0	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		99
HP:0001561	HP:0001561	Polyhydramnios	0	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent		79
HP:0001561	HP:0001561	Polyhydramnios	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0001561	HP:0001561	Polyhydramnios	0	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		124
HP:0001561	HP:0001561	Polyhydramnios	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		124
HP:0001561	HP:0001561	Polyhydramnios	0	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent		124
HP:0001561	HP:0001561	Polyhydramnios	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0001561	HP:0001561	Polyhydramnios	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent		141
HP:0001561	HP:0001561	Polyhydramnios	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.		141
HP:0001561	HP:0001561	Polyhydramnios	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		80
HP:0001561	HP:0001561	Polyhydramnios	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.		51
HP:0001561	HP:0001561	Polyhydramnios	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent		3
HP:0001561	HP:0001561	Polyhydramnios	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0001561	HP:0001561	Polyhydramnios	0	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.		24
HP:0001561	HP:0001561	Polyhydramnios	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0001561	HP:0001561	Polyhydramnios	0	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	HP:0040283 - Occasional		4
HP:0001561	HP:0001561	Polyhydramnios	0	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus	HP:0040281 - Very frequent		167
HP:0001561	HP:0001561	Polyhydramnios	0	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8			28
HP:0001561	HP:0001561	Polyhydramnios	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		28
HP:0001561	HP:0001561	Polyhydramnios	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		13
HP:0001561	HP:0001561	Polyhydramnios	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		13
HP:0001561	HP:0001561	Polyhydramnios	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		13
HP:0001561	HP:0001561	Polyhydramnios	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		13
HP:0001561	HP:0001561	Polyhydramnios	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0001561	HP:0001561	Polyhydramnios	0	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040282 - Frequent		196
HP:0001561	HP:0001561	Polyhydramnios	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0001561	HP:0001561	Polyhydramnios	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		645
HP:0001561	HP:0001561	Polyhydramnios	0	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040282 - Frequent
HP:0001561	HP:0001561	Polyhydramnios	0	LMOD1 CL E G H	25802	6647	OMIM:619362	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0001561	HP:0001561	Polyhydramnios	0	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10	.		11
HP:0001561	HP:0001561	Polyhydramnios	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		11
HP:0001561	HP:0001561	Polyhydramnios	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		11
HP:0001561	HP:0001561	Polyhydramnios	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome	.		8
HP:0001561	HP:0001561	Polyhydramnios	0	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3	HP:0040284 - Very rare		12
HP:0001561	HP:0001561	Polyhydramnios	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0001561	HP:0001561	Polyhydramnios	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0001561	HP:0001561	Polyhydramnios	0	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	HP:0040283 - Occasional		63
HP:0001561	HP:0001561	Polyhydramnios	0	MAGED2 CL E G H	10916	16353	OMIM:300971	Bartter syndrome, type 5, antenatal, transient			6
HP:0001561	HP:0001561	Polyhydramnios	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0001561	HP:0001561	Polyhydramnios	0	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent		5
HP:0001561	HP:0001561	Polyhydramnios	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0001561	HP:0001561	Polyhydramnios	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0001561	HP:0001561	Polyhydramnios	0	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0001561	HP:0001561	Polyhydramnios	0	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040281 - Very frequent		1
HP:0001561	HP:0001561	Polyhydramnios	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040281 - Very frequent		1
HP:0001561	HP:0001561	Polyhydramnios	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040281 - Very frequent		1
HP:0001561	HP:0001561	Polyhydramnios	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0001561	HP:0001561	Polyhydramnios	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001561	HP:0001561	Polyhydramnios	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional		37
HP:0001561	HP:0001561	Polyhydramnios	0	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		12
HP:0001561	HP:0001561	Polyhydramnios	0	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly	HP:0040282 - Frequent		183
HP:0001561	HP:0001561	Polyhydramnios	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.		185
HP:0001561	HP:0001561	Polyhydramnios	0	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy			185
HP:0001561	HP:0001561	Polyhydramnios	0	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent		185
HP:0001561	HP:0001561	Polyhydramnios	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		7
HP:0001561	HP:0001561	Polyhydramnios	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.		72
HP:0001561	HP:0001561	Polyhydramnios	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent		72
HP:0001561	HP:0001561	Polyhydramnios	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.		35
HP:0001561	HP:0001561	Polyhydramnios	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		19
HP:0001561	HP:0001561	Polyhydramnios	0	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040282 - Frequent		418
HP:0001561	HP:0001561	Polyhydramnios	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0001561	HP:0001561	Polyhydramnios	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040283 - Occasional		166
HP:0001561	HP:0001561	Polyhydramnios	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0001561	HP:0001561	Polyhydramnios	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0001561	HP:0001561	Polyhydramnios	0	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040282 - Frequent		326
HP:0001561	HP:0001561	Polyhydramnios	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare
HP:0001561	HP:0001561	Polyhydramnios	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent
HP:0001561	HP:0001561	Polyhydramnios	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0001561	HP:0001561	Polyhydramnios	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		217
HP:0001561	HP:0001561	Polyhydramnios	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040283 - Occasional		48
HP:0001561	HP:0001561	Polyhydramnios	0	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6			745
HP:0001561	HP:0001561	Polyhydramnios	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		745
HP:0001561	HP:0001561	Polyhydramnios	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		745
HP:0001561	HP:0001561	Polyhydramnios	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.		745
HP:0001561	HP:0001561	Polyhydramnios	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		745
HP:0001561	HP:0001561	Polyhydramnios	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		745
HP:0001561	HP:0001561	Polyhydramnios	0	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		4
HP:0001561	HP:0001561	Polyhydramnios	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0001561	HP:0001561	Polyhydramnios	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2			33
HP:0001561	HP:0001561	Polyhydramnios	0	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome	HP:0040282 - Frequent		157
HP:0001561	HP:0001561	Polyhydramnios	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0001561	HP:0001561	Polyhydramnios	0	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0001561	HP:0001561	Polyhydramnios	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent
HP:0001561	HP:0001561	Polyhydramnios	0	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4	.
HP:0001561	HP:0001561	Polyhydramnios	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0001561	HP:0001561	Polyhydramnios	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040282 - Frequent		1
HP:0001561	HP:0001561	Polyhydramnios	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001561	HP:0001561	Polyhydramnios	0	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent		41
HP:0001561	HP:0001561	Polyhydramnios	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040283 - Occasional		231
HP:0001561	HP:0001561	Polyhydramnios	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome	HP:0040282 - Frequent		231
HP:0001561	HP:0001561	Polyhydramnios	0	PAICS CL E G H	10606	8587	OMIM:619859
HP:0001561	HP:0001561	Polyhydramnios	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	HP:0040284 - Very rare
HP:0001561	HP:0001561	Polyhydramnios	0	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0001561	HP:0001561	Polyhydramnios	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.		37
HP:0001561	HP:0001561	Polyhydramnios	0	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional		86
HP:0001561	HP:0001561	Polyhydramnios	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040282 - Frequent		11
HP:0001561	HP:0001561	Polyhydramnios	0	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III	.		36
HP:0001561	HP:0001561	Polyhydramnios	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	HP:0040283 - Occasional		46
HP:0001561	HP:0001561	Polyhydramnios	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040282 - Frequent		37
HP:0001561	HP:0001561	Polyhydramnios	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.		37
HP:0001561	HP:0001561	Polyhydramnios	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0001561	HP:0001561	Polyhydramnios	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6	.		2
HP:0001561	HP:0001561	Polyhydramnios	0	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia	.		759
HP:0001561	HP:0001561	Polyhydramnios	0	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		759
HP:0001561	HP:0001561	Polyhydramnios	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		759
HP:0001561	HP:0001561	Polyhydramnios	0	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0001561	HP:0001561	Polyhydramnios	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0001561	HP:0001561	Polyhydramnios	0	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH			2
HP:0001561	HP:0001561	Polyhydramnios	0	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent		4
HP:0001561	HP:0001561	Polyhydramnios	0	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex			4
HP:0001561	HP:0001561	Polyhydramnios	0	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2			27
HP:0001561	HP:0001561	Polyhydramnios	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040281 - Very frequent		58
HP:0001561	HP:0001561	Polyhydramnios	0	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type	.		58
HP:0001561	HP:0001561	Polyhydramnios	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001561	HP:0001561	Polyhydramnios	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001561	HP:0001561	Polyhydramnios	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0001561	HP:0001561	Polyhydramnios	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent		73
HP:0001561	HP:0001561	Polyhydramnios	0	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional		572
HP:0001561	HP:0001561	Polyhydramnios	0	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced		HP:0030674 - Antenatal onset	16
HP:0001561	HP:0001561	Polyhydramnios	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0001561	HP:0001561	Polyhydramnios	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0001561	HP:0001561	Polyhydramnios	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional		10
HP:0001561	HP:0001561	Polyhydramnios	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.		22
HP:0001561	HP:0001561	Polyhydramnios	0	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0001561	HP:0001561	Polyhydramnios	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001561	HP:0001561	Polyhydramnios	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040281 - Very frequent
HP:0001561	HP:0001561	Polyhydramnios	0	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040281 - Very frequent
HP:0001561	HP:0001561	Polyhydramnios	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040281 - Very frequent
HP:0001561	HP:0001561	Polyhydramnios	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040281 - Very frequent
HP:0001561	HP:0001561	Polyhydramnios	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		1200
HP:0001561	HP:0001561	Polyhydramnios	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional		1200
HP:0001561	HP:0001561	Polyhydramnios	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.		1200
HP:0001561	HP:0001561	Polyhydramnios	0	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia			357
HP:0001561	HP:0001561	Polyhydramnios	0	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0001561	HP:0001561	Polyhydramnios	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001561	HP:0001561	Polyhydramnios	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0001561	HP:0001561	Polyhydramnios	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		16
HP:0001561	HP:0001561	Polyhydramnios	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0001561	HP:0001561	Polyhydramnios	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0001561	HP:0001561	Polyhydramnios	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0001561	HP:0001561	Polyhydramnios	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.		75
HP:0001561	HP:0001561	Polyhydramnios	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040284 - Very rare		57
HP:0001561	HP:0001561	Polyhydramnios	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent		2
HP:0001561	HP:0001561	Polyhydramnios	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0001561	HP:0001561	Polyhydramnios	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		28
HP:0001561	HP:0001561	Polyhydramnios	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0001561	HP:0001561	Polyhydramnios	0	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28			5
HP:0001561	HP:0001561	Polyhydramnios	0	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E			14
HP:0001561	HP:0001561	Polyhydramnios	0	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B	HP:0040282 - Frequent		166
HP:0001561	HP:0001561	Polyhydramnios	0	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.		166
HP:0001561	HP:0001561	Polyhydramnios	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040283 - Occasional		166
HP:0001561	HP:0001561	Polyhydramnios	0	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital	.		89
HP:0001561	HP:0001561	Polyhydramnios	0	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS			26
HP:0001561	HP:0001561	Polyhydramnios	0	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent		9
HP:0001561	HP:0001561	Polyhydramnios	0	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia	.		9
HP:0001561	HP:0001561	Polyhydramnios	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		9
HP:0001561	HP:0001561	Polyhydramnios	0	SLC9A3 CL E G H	6550	11073	OMIM:616868	Diarrhea 8, secretory sodium, congenital			7
HP:0001561	HP:0001561	Polyhydramnios	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0001561	HP:0001561	Polyhydramnios	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0001561	HP:0001561	Polyhydramnios	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001561	HP:0001561	Polyhydramnios	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001561	HP:0001561	Polyhydramnios	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.		6
HP:0001561	HP:0001561	Polyhydramnios	0	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0001561	HP:0001561	Polyhydramnios	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0001561	HP:0001561	Polyhydramnios	0	SOX17 CL E G H	64321	18122	OMIM:613674	Vesicoureteral reflux 3	.		3
HP:0001561	HP:0001561	Polyhydramnios	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.		109
HP:0001561	HP:0001561	Polyhydramnios	0	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies	.		6
HP:0001561	HP:0001561	Polyhydramnios	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0001561	HP:0001561	Polyhydramnios	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0001561	HP:0001561	Polyhydramnios	0	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0001561	HP:0001561	Polyhydramnios	0	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	HP:0040281 - Very frequent		6
HP:0001561	HP:0001561	Polyhydramnios	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		4
HP:0001561	HP:0001561	Polyhydramnios	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0001561	HP:0001561	Polyhydramnios	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent		271
HP:0001561	HP:0001561	Polyhydramnios	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040283 - Occasional		16
HP:0001561	HP:0001561	Polyhydramnios	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0001561	HP:0001561	Polyhydramnios	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040282 - Frequent		6
HP:0001561	HP:0001561	Polyhydramnios	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0001561	HP:0001561	Polyhydramnios	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0001561	HP:0001561	Polyhydramnios	0	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		140
HP:0001561	HP:0001561	Polyhydramnios	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		54
HP:0001561	HP:0001561	Polyhydramnios	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0001561	HP:0001561	Polyhydramnios	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		54
HP:0001561	HP:0001561	Polyhydramnios	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		108
HP:0001561	HP:0001561	Polyhydramnios	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0001561	HP:0001561	Polyhydramnios	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		108
HP:0001561	HP:0001561	Polyhydramnios	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9	.		2
HP:0001561	HP:0001561	Polyhydramnios	0	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	HP:0040283 - Occasional		2
HP:0001561	HP:0001561	Polyhydramnios	0	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040282 - Frequent		133
HP:0001561	HP:0001561	Polyhydramnios	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.		133
HP:0001561	HP:0001561	Polyhydramnios	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent		2
HP:0001561	HP:0001561	Polyhydramnios	0	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal	.		4
HP:0001561	HP:0001561	Polyhydramnios	0	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4	HP:0040282 - Frequent		102
HP:0001561	HP:0001561	Polyhydramnios	0	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4	.		102
HP:0001561	HP:0001561	Polyhydramnios	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001561	HP:0001561	Polyhydramnios	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040282 - Frequent		26
HP:0001561	HP:0001561	Polyhydramnios	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome	.		26
HP:0001561	HP:0001561	Polyhydramnios	0	TTC7A CL E G H	57217	19750	ORPHA:2300	Multiple intestinal atresia	HP:0040282 - Frequent		26
HP:0001561	HP:0001561	Polyhydramnios	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent		106
HP:0001561	HP:0001561	Polyhydramnios	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001561	HP:0001561	Polyhydramnios	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional		6
HP:0001561	HP:0001561	Polyhydramnios	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0001561	HP:0001561	Polyhydramnios	0	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly	HP:0040282 - Frequent		2
HP:0001561	HP:0001561	Polyhydramnios	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0001561	HP:0001561	Polyhydramnios	0	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies	.		27
HP:0001561	HP:0001561	Polyhydramnios	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040281 - Very frequent		12
HP:0001561	HP:0001561	Polyhydramnios	0	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome	HP:0040282 - Frequent		14
HP:0001561	HP:0001561	Polyhydramnios	0	ZBTB42 CL E G H	100128927	32550	OMIM:616248	Lethal congenital contracture syndrome 6	.		1
HP:0001561	HP:0001561	Polyhydramnios	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0001561	HP:0001561	Polyhydramnios	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001561	HP:0001561	Polyhydramnios	0	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked			39
HP:0001561	HP:0001561	Polyhydramnios	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		83
HP:0001561	HP:0001561	Polyhydramnios	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.		83
HP:0001561	HP:0001561	Polyhydramnios	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS

Genes (277) :ABCC6 ACTA1 ACTG2 ADAMTS3 ADARB1 ADAT3 ADGRG6 AGRN ALDH1A2 ALG12 ALG14 ALG9 ALPL AMER1 AMMECR1 ANO1 AQP2 ARVCF ASCC1 ASCL1 ASXL1 ASXL3 ATAD3A ATP1A2 ATP6V0A1 ATP6V1B2 AVPR2 B3GALT6 B3GLCT BIN1 BRAF BSND BUB1 BUB1B BUB3 CALCRL CBL CD96 CDC42BPB CDK13 CEP57 CFL2 CHAT CHD7 CHRNA1 CHRND CHRNG CILK1 CLCN7 CLCNKA CLCNKB CLPB CNTN1 CNTNAP1 COL11A2 COL13A1 COL2A1 COMT CRB2 CREBBP DHCR7 DIS3L2 DLK1 DMPK DNM2 DOK7 DPF2 DPH5 DPM2 DTYMK DYNC2I1 DYNC2I2 DYNC2LI1 DYRK1A EBP ENPP1 EP300 ERBB3 ERF ESCO2 EXT2 EXTL3 FANCB FANCF FGFR3 FIG4 FKBP14 FLNB FLVCR2 FOXE1 FOXF1 FUT8 GBA1 GBE1 GLDN GLE1 GP1BB GPC3 GPC4 GRM7 HACD1 HBA1 HBA2 HERC2 HIC1 HIRA HOXD13 HRAS HSD17B4 HSPG2 HYLS1 IBA57 IKZF1 INPPL1 IPO8 IPW IRF6 ITGA6 ITGA7 ITGB4 JMJD1C KAT6B KBTBD13 KCNJ1 KCNJ6 KDM3B KIAA0586 KIDINS220 KIF7 KLHL40 KLHL41 KRAS LBR LMNA LMOD1 LMOD3 LONP1 LTBP3 LZTR1 MADD MAFB MAGED2 MAGEL2 MAMLD1 MAP2K2 MAP3K20 MDFIC MEG3 MKRN3 MKRN3-AS1 MOGS MSX1 MTHFR MTM1 MTMR14 MUSK MYCN MYF6 MYH11 MYH3 MYL1 MYL2 MYLK MYO9A MYOD1 MYPN NALCN NEB NECTIN1 NPAP1 NPC2 NPHP3 NRAS NRCAM NUP88 ODC1 OTUD5 OTX2 PAFAH1B1 PAICS PCGF2 PHACTR1 PHGDH PHOX2B PI4KA PIEZO1 PIGA PIGN PIGQ PIGY PLEC PLVAP PPP1CB PRDM13 PRRX1 PSAT1 PTH1R PWAR1 PWRN1 RAF1 RAPSN RET RHD RIT1 RPL10 RPL11 RRAS2 RREB1 RSPO2 RTL1 RYR1 SCN8A SCYL2 SEC24C SELENON SEMA3E SHOC2 SIN3A SKIC3 SLC12A1 SLC16A2 SLC18A3 SLC25A1 SLC25A12 SLC25A26 SLC25A46 SLC26A2 SLC26A3 SLC27A4 SLC35D1 SLC5A7 SLC9A3 SMG9 SNAP25 SNORD115-1 SNORD116-1 SNRPB SOD1 SOS1 SOX17 SOX9 SPINT2 SPOP SPRED2 STRADA SYT2 TAPT1 TBC1D24 TBCD TBX1 TMCO1 TOR1A TP63 TPM2 TPM3 TRAIP TRAPPC12 TRIP11 TRIP13 TRPV6 TSEN54 TTC26 TTC7A TUBA1A UFD1 VAC14 VAMP1 VANGL2 WDR35 WDR81 WNT3 YWHAE ZBTB42 ZC4H2 ZIC3 ZMPSTE24 ZNF699

Diseases (260) :ORPHA:51608 ORPHA:171439 ORPHA:2020 ORPHA:171433 OMIM:161800 ORPHA:171430 ORPHA:171436 ORPHA:2241 OMIM:155310 OMIM:618154 OMIM:618862 ORPHA:363528 OMIM:616503 ORPHA:98914 OMIM:620025 ORPHA:79324 OMIM:607143 OMIM:619036 OMIM:263210 OMIM:241500 OMIM:300373 OMIM:300990 OMIM:620045 ORPHA:223 ORPHA:567 OMIM:616867 ORPHA:99803 OMIM:605039 OMIM:615485 OMIM:618810 OMIM:619602 OMIM:619971 ORPHA:79500 OMIM:609465 ORPHA:709 OMIM:261540 ORPHA:169189 OMIM:115150 OMIM:602522 ORPHA:89938 ORPHA:1052 OMIM:618773 OMIM:613563 ORPHA:1308 OMIM:619841 OMIM:617360 ORPHA:138 OMIM:214800 OMIM:253290 OMIM:612651 OMIM:618541 OMIM:613090 OMIM:616271 OMIM:612540 OMIM:616286 OMIM:618186 ORPHA:1427 OMIM:200610 ORPHA:85166 OMIM:151210 ORPHA:93316 OMIM:219730 OMIM:180849 ORPHA:353277 ORPHA:818 OMIM:267000 ORPHA:254534 ORPHA:254528 ORPHA:96334 ORPHA:589821 OMIM:160900 OMIM:615368 ORPHA:994 OMIM:618027 OMIM:620070 ORPHA:329178 OMIM:619847 OMIM:615503 OMIM:615633 OMIM:617088 ORPHA:464311 OMIM:302960 ORPHA:353284 OMIM:607598 OMIM:617180 ORPHA:3103 OMIM:268300 ORPHA:466926 ORPHA:508533 OMIM:314390 ORPHA:3412 OMIM:603467 OMIM:100800 ORPHA:1860 ORPHA:93274 OMIM:187600 OMIM:187601 ORPHA:3472 OMIM:216340 OMIM:614557 ORPHA:1190 ORPHA:56305 OMIM:108720 ORPHA:1263 OMIM:225790 ORPHA:1226 OMIM:241850 OMIM:265380 OMIM:618005 OMIM:608013 OMIM:232500 OMIM:617194 ORPHA:1486 ORPHA:373 OMIM:312870 OMIM:618922 ORPHA:163596 OMIM:176270 ORPHA:531 ORPHA:887 OMIM:218040 ORPHA:3071 OMIM:261515 ORPHA:800 ORPHA:2189 OMIM:236680 OMIM:615330 OMIM:616873 OMIM:258480 ORPHA:3144 OMIM:619472 ORPHA:199302 ORPHA:79403 ORPHA:158684 OMIM:226730 ORPHA:3047 OMIM:606170 OMIM:241200 ORPHA:435628 OMIM:618846 OMIM:616546 OMIM:617296 ORPHA:521390 OMIM:615348 OMIM:609942 ORPHA:3339 OMIM:215140 ORPHA:1662 OMIM:619362 OMIM:616165 OMIM:600373 OMIM:617809 OMIM:605275 OMIM:619004 ORPHA:2774 OMIM:300971 ORPHA:456328 OMIM:615280 OMIM:620014 ORPHA:79330 ORPHA:563612 OMIM:310400 ORPHA:596 OMIM:208150 OMIM:164280 OMIM:193700 ORPHA:2053 OMIM:618414 OMIM:618975 OMIM:619334 OMIM:256030 OMIM:607625 ORPHA:3032 OMIM:613224 OMIM:619833 OMIM:618393 OMIM:619075 ORPHA:544488 OMIM:301056 ORPHA:990 ORPHA:95232 OMIM:619859 OMIM:618371 OMIM:618298 OMIM:256520 ORPHA:436252 OMIM:616843 OMIM:300868 ORPHA:2059 OMIM:614080 OMIM:618548 OMIM:616809 OMIM:612138 OMIM:618183 OMIM:617506 OMIM:619761 OMIM:202650 OMIM:616038 ORPHA:50945 OMIM:215045 OMIM:611553 OMIM:619462 OMIM:615355 OMIM:300998 ORPHA:459070 OMIM:612562 OMIM:618624 ORPHA:3301 ORPHA:98905 OMIM:255320 OMIM:614306 OMIM:618766 OMIM:607721 OMIM:613406 OMIM:222470 OMIM:601678 ORPHA:59 OMIM:612949 OMIM:616794 OMIM:619303 ORPHA:93298 OMIM:600972 ORPHA:56304 OMIM:214700 OMIM:608649 OMIM:269250 OMIM:616868 OMIM:616920 OMIM:117650 OMIM:618598 OMIM:610733 OMIM:613674 OMIM:114290 OMIM:270420 OMIM:618829 OMIM:619745 OMIM:611087 ORPHA:500533 OMIM:616897 ORPHA:496641 ORPHA:1394 OMIM:213980 OMIM:618947 OMIM:616777 ORPHA:500144 ORPHA:93299 OMIM:200600 OMIM:618188 ORPHA:166063 OMIM:225753 OMIM:619534 OMIM:243150 ORPHA:2300 OMIM:613610 OMIM:617967 OMIM:616248 OMIM:301041 OMIM:306955 OMIM:275210 OMIM:619488

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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