Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy			146
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy			111
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis			113
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy			96
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3			96
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy			96
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy			96
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome			23
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5			23
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1			23
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ADAMTS3 CL E G H	9508	219	OMIM:618154	Hennekam lymphangiectasia-lymphedema syndrome 3			1
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9			5
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis			48
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis			33
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ALB CL E G H	213	399	OMIM:616000	Analbuminemia			104
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia			104
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy			227
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik	.		58
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG			46
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile			126
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome			132
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus			75
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome			15
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD			239
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ATP6V0A1 CL E G H	535	865	OMIM:619971				1
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy			144
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus			67
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME			38
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome			28
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome			34
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2			99
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve			22
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness			53
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			53
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CALCRL CL E G H	10203	16709	OMIM:618773	LYMPHATIC MALFORMATION 8; LMPHM8			3
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome			247
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome			342
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly			2
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy			35
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome			4
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome			4
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type			74
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type			88
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type			68
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			9
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			9
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			27
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			27
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north			40
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7			9
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia			222
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita			3
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II			284
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type			284
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type			284
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10			4
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CRB2 CL E G H	286204	18688	OMIM:219730	Ventriculomegaly with cystic kidney disease			12
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome			57
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome			164
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1			152
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5			167
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2			18
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome			9
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	DYNC2I2 CL E G H	89891	28296	OMIM:615633	Short-Rib thoracic dysplasia 11 with or without polydactyly
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB			45
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2			12
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome			12
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome			92
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome			102
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked			58
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus			58
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA			63
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral			2
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1			145
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2			145
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II			145
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I			233
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III			233
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I			233
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia			233
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome			47
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FOXE1 CL E G H	2304	3806	ORPHA:1226	Bamforth-Lazarus syndrome			9
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FOXE1 CL E G H	2304	3806	OMIM:241850	Hypothyroidism, athyroidal, with spiky hair and cleft palate			9
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1			3
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		29
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV			86
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	GFRA1 CL E G H	2674	4243	OMIM:619887				1
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral			1
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	GLDN CL E G H	342035	29514	OMIM:617194	Lethal congenital contracture syndrome 11			6
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	GLE1 CL E G H	2733	4315	OMIM:253310	Lethal congenital contracture syndrome 1	.		45
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1			45
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14			34
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			4
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency	.		99
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency	.		60
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis			200
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis			88
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome			90
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association			25
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus			31
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3			16
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			9
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13			8
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA			18
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia			18
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2			106
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip			99
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia			79
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral			4
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1			4
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			124
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			124
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia			124
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome			141
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome			3
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly			24
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome			4
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12			9
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus			167
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8			28
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy			28
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy			13
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy			13
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy			13
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome			196
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia			54
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	LMOD1 CL E G H	25802	6647	OMIM:619362	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10			11
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy			11
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy			11
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3			12
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy			63
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MAGED2 CL E G H	10916	16353	OMIM:300971	Bartter syndrome, type 5, antenatal, transient			6
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome			5
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome			22
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome			127
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5	.		25
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip			12
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly			183
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy			185
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome			185
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome			418
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2			418
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MYL9 CL E G H	10398	15754	OMIM:619365	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome			326
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MYLK CL E G H	4638	7590	OMIM:249210	MOVED TO 155310			326
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6			745
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy			745
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy			745
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy			745
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip			4
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2			43
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2			33
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome			157
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy			14
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			41
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation			231
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome			231
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PAICS CL E G H	10606	8587	OMIM:619859
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay			3
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital			30
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome			86
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease			563
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			759
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy			6
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.		150
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040282 - Frequent		92
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH			2
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			4
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex			4
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2			27
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia			58
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type			58
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis			25
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome			572
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral			572
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome			13
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome			8
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced			16
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome			16
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome			109
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome			167
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia			1200
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia			357
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2			5
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal			75
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28			5
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E			14
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B			166
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB			166
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital			89
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS			26
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia			9
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3			81
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SLC9A3 CL E G H	6550	11073	OMIM:616868	Diarrhea 8, secretory sodium, congenital			7
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SOX17 CL E G H	64321	18122	OMIM:613674	Vesicoureteral reflux 3			3
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies			6
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome			6
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome			45
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome			76
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8			76
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome			31
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome			4
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome			45
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome			33
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TMEM231 CL E G H	79583	37234	OMIM:615397	Meckel syndrome, type 11			33
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome			82
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome			166
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2			63
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip			140
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy			54
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy			108
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome			2
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A			133
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal			4
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4			102
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4			102
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome			26
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TTC7A CL E G H	57217	19750	ORPHA:2300	Multiple intestinal atresia			26
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome			2
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040283 - Occasional		31
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		41
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly			2
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies			27
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome			12
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs			4
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome			4
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome			14
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ZBTB42 CL E G H	100128927	32550	OMIM:616248	Lethal congenital contracture syndrome 6			1
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked			39
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0001560	HP:0001560	Abnormality of the amniotic fluid	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001560	HP:0012420	Meconium stained amniotic fluid	1	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional		146
HP:0001560	HP:0012420	Meconium stained amniotic fluid	1	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional		111
HP:0001560	HP:0001561	Polyhydramnios	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent		415
HP:0001560	HP:0001562	Oligohydramnios	1	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis	.		113
HP:0001560	HP:0001561	Polyhydramnios	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		96
HP:0001560	HP:0001561	Polyhydramnios	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0001560	HP:0001561	Polyhydramnios	1	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		96
HP:0001560	HP:0001561	Polyhydramnios	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.		96
HP:0001560	HP:0001561	Polyhydramnios	1	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		96
HP:0001560	HP:0001561	Polyhydramnios	1	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		96
HP:0001560	HP:0001561	Polyhydramnios	1	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040282 - Frequent		23
HP:0001560	HP:0001562	Oligohydramnios	1	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5			23
HP:0001560	HP:0001561	Polyhydramnios	1	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1	.		23
HP:0001560	HP:0001561	Polyhydramnios	1	ADAMTS3 CL E G H	9508	219	OMIM:618154	Hennekam lymphangiectasia-lymphedema syndrome 3	.		1
HP:0001560	HP:0001561	Polyhydramnios	1	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0001560	HP:0001561	Polyhydramnios	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional		9
HP:0001560	HP:0001561	Polyhydramnios	1	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9	.		5
HP:0001560	HP:0001561	Polyhydramnios	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		127
HP:0001560	HP:0001562	Oligohydramnios	1	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis	.		48
HP:0001560	HP:0001562	Oligohydramnios	1	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis	.		33
HP:0001560	HP:0001562	Oligohydramnios	1	ALB CL E G H	213	399	OMIM:616000	Analbuminemia			104
HP:0001560	HP:0001562	Oligohydramnios	1	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040283 - Occasional		104
HP:0001560	HP:0001561	Polyhydramnios	1	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0001560	HP:0012420	Meconium stained amniotic fluid	1	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional		227
HP:0001560	HP:0001561	Polyhydramnios	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040284 - Very rare		68
HP:0001560	HP:0001561	Polyhydramnios	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.		68
HP:0001560	HP:0001561	Polyhydramnios	1	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0001560	HP:0001562	Oligohydramnios	1	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional		46
HP:0001560	HP:0001562	Oligohydramnios	1	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.		46
HP:0001560	HP:0001562	Oligohydramnios	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0001560	HP:0001562	Oligohydramnios	1	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0001560	HP:0001561	Polyhydramnios	1	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0001560	HP:0001561	Polyhydramnios	1	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.		126
HP:0001560	HP:0001562	Oligohydramnios	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0001560	HP:0001562	Oligohydramnios	1	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040282 - Frequent		132
HP:0001560	HP:0001561	Polyhydramnios	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0001560	HP:0001562	Oligohydramnios	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0001560	HP:0001561	Polyhydramnios	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0001560	HP:0001561	Polyhydramnios	1	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0001560	HP:0001561	Polyhydramnios	1	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040284 - Very rare		75
HP:0001560	HP:0001561	Polyhydramnios	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0001560	HP:0001561	Polyhydramnios	1	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0001560	HP:0001561	Polyhydramnios	1	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional		15
HP:0001560	HP:0001562	Oligohydramnios	1	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional		15
HP:0001560	HP:0001561	Polyhydramnios	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0001560	HP:0001561	Polyhydramnios	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0001560	HP:0001561	Polyhydramnios	1	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0001560	HP:0001562	Oligohydramnios	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0001560	HP:0001561	Polyhydramnios	1	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD			239
HP:0001560	HP:0001561	Polyhydramnios	1	ATP6V0A1 CL E G H	535	865	OMIM:619971				1
HP:0001560	HP:0001561	Polyhydramnios	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent		5
HP:0001560	HP:0012420	Meconium stained amniotic fluid	1	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional		144
HP:0001560	HP:0001561	Polyhydramnios	1	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040284 - Very rare		67
HP:0001560	HP:0001561	Polyhydramnios	1	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME			38
HP:0001560	HP:0001562	Oligohydramnios	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional		38
HP:0001560	HP:0001561	Polyhydramnios	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional		36
HP:0001560	HP:0001561	Polyhydramnios	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0001560	HP:0001562	Oligohydramnios	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		28
HP:0001560	HP:0001562	Oligohydramnios	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		34
HP:0001560	HP:0001561	Polyhydramnios	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		99
HP:0001560	HP:0001562	Oligohydramnios	1	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2			99
HP:0001560	HP:0001562	Oligohydramnios	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.		78
HP:0001560	HP:0001562	Oligohydramnios	1	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040284 - Very rare		22
HP:0001560	HP:0001561	Polyhydramnios	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.		276
HP:0001560	HP:0001562	Oligohydramnios	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		5769
HP:0001560	HP:0001562	Oligohydramnios	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		7642
HP:0001560	HP:0001562	Oligohydramnios	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1086
HP:0001560	HP:0001563	Fetal polyuria	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.		53
HP:0001560	HP:0001561	Polyhydramnios	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.		53
HP:0001560	HP:0001561	Polyhydramnios	1	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		53
HP:0001560	HP:0001561	Polyhydramnios	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent		5
HP:0001560	HP:0001561	Polyhydramnios	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent		76
HP:0001560	HP:0001562	Oligohydramnios	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.		76
HP:0001560	HP:0001561	Polyhydramnios	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent
HP:0001560	HP:0001562	Oligohydramnios	1	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33	.
HP:0001560	HP:0001562	Oligohydramnios	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0001560	HP:0001561	Polyhydramnios	1	CALCRL CL E G H	10203	16709	OMIM:618773	LYMPHATIC MALFORMATION 8; LMPHM8			3
HP:0001560	HP:0001561	Polyhydramnios	1	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	HP:0040283 - Occasional		317
HP:0001560	HP:0001562	Oligohydramnios	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		247
HP:0001560	HP:0001561	Polyhydramnios	1	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040283 - Occasional		83
HP:0001560	HP:0001562	Oligohydramnios	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001560	HP:0001561	Polyhydramnios	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001560	HP:0001561	Polyhydramnios	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0001560	HP:0001562	Oligohydramnios	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent		114
HP:0001560	HP:0001562	Oligohydramnios	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		342
HP:0001560	HP:0001562	Oligohydramnios	1	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly			2
HP:0001560	HP:0001561	Polyhydramnios	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent		17
HP:0001560	HP:0001562	Oligohydramnios	1	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0001560	HP:0001561	Polyhydramnios	1	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		35
HP:0001560	HP:0001561	Polyhydramnios	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		65
HP:0001560	HP:0001561	Polyhydramnios	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0001560	HP:0001561	Polyhydramnios	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		515
HP:0001560	HP:0001562	Oligohydramnios	1	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040282 - Frequent		4
HP:0001560	HP:0001562	Oligohydramnios	1	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome	.		4
HP:0001560	HP:0001561	Polyhydramnios	1	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		74
HP:0001560	HP:0001561	Polyhydramnios	1	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		88
HP:0001560	HP:0001561	Polyhydramnios	1	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		68
HP:0001560	HP:0001561	Polyhydramnios	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0001560	HP:0001561	Polyhydramnios	1	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development	.		102
HP:0001560	HP:0001561	Polyhydramnios	1	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		9
HP:0001560	HP:0001563	Fetal polyuria	1	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		9
HP:0001560	HP:0001561	Polyhydramnios	1	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		9
HP:0001560	HP:0001563	Fetal polyuria	1	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		27
HP:0001560	HP:0001561	Polyhydramnios	1	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		27
HP:0001560	HP:0001561	Polyhydramnios	1	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		27
HP:0001560	HP:0001561	Polyhydramnios	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0001560	HP:0001562	Oligohydramnios	1	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040283 - Occasional		6
HP:0001560	HP:0001561	Polyhydramnios	1	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north	.		40
HP:0001560	HP:0001561	Polyhydramnios	1	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7	.		9
HP:0001560	HP:0001561	Polyhydramnios	1	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.		9
HP:0001560	HP:0001562	Oligohydramnios	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional		79
HP:0001560	HP:0001561	Polyhydramnios	1	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040283 - Occasional		222
HP:0001560	HP:0001561	Polyhydramnios	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		6
HP:0001560	HP:0001562	Oligohydramnios	1	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional		3
HP:0001560	HP:0001561	Polyhydramnios	1	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II	.		284
HP:0001560	HP:0001561	Polyhydramnios	1	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type	HP:0040282 - Frequent		284
HP:0001560	HP:0001561	Polyhydramnios	1	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0001560	HP:0001561	Polyhydramnios	1	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040283 - Occasional		284
HP:0001560	HP:0001561	Polyhydramnios	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0001560	HP:0001562	Oligohydramnios	1	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040283 - Occasional		54
HP:0001560	HP:0001562	Oligohydramnios	1	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8	.		1
HP:0001560	HP:0001562	Oligohydramnios	1	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10			4
HP:0001560	HP:0001562	Oligohydramnios	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	HP:0040283 - Occasional		101
HP:0001560	HP:0001561	Polyhydramnios	1	CRB2 CL E G H	286204	18688	OMIM:219730	Ventriculomegaly with cystic kidney disease	.		12
HP:0001560	HP:0001561	Polyhydramnios	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001560	HP:0001561	Polyhydramnios	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional		291
HP:0001560	HP:0001562	Oligohydramnios	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		57
HP:0001560	HP:0001562	Oligohydramnios	1	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0001560	HP:0001562	Oligohydramnios	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001560	HP:0001562	Oligohydramnios	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001560	HP:0001561	Polyhydramnios	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent		159
HP:0001560	HP:0001562	Oligohydramnios	1	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment	.
HP:0001560	HP:0001561	Polyhydramnios	1	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.		164
HP:0001560	HP:0001561	Polyhydramnios	1	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040281 - Very frequent		1
HP:0001560	HP:0001561	Polyhydramnios	1	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040281 - Very frequent		1
HP:0001560	HP:0001561	Polyhydramnios	1	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:0001560	HP:0001561	Polyhydramnios	1	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0001560	HP:0001561	Polyhydramnios	1	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1	.		152
HP:0001560	HP:0001561	Polyhydramnios	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		167
HP:0001560	HP:0001561	Polyhydramnios	1	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5	.		167
HP:0001560	HP:0001562	Oligohydramnios	1	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	.		18
HP:0001560	HP:0001561	Polyhydramnios	1	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent		91
HP:0001560	HP:0001562	Oligohydramnios	1	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome	.		9
HP:0001560	HP:0001561	Polyhydramnios	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001560	HP:0001562	Oligohydramnios	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001560	HP:0001561	Polyhydramnios	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001560	HP:0001561	Polyhydramnios	1	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040283 - Occasional		26
HP:0001560	HP:0001562	Oligohydramnios	1	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional		747
HP:0001560	HP:0001561	Polyhydramnios	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0001560	HP:0001561	Polyhydramnios	1	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI	.
HP:0001560	HP:0001561	Polyhydramnios	1	DYNC2I2 CL E G H	89891	28296	OMIM:615633	Short-Rib thoracic dysplasia 11 with or without polydactyly	HP:0040283 - Occasional
HP:0001560	HP:0001561	Polyhydramnios	1	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	.		7
HP:0001560	HP:0001562	Oligohydramnios	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040283 - Occasional		134
HP:0001560	HP:0001561	Polyhydramnios	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040284 - Very rare		134
HP:0001560	HP:0001562	Oligohydramnios	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040284 - Very rare		134
HP:0001560	HP:0001562	Oligohydramnios	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		4
HP:0001560	HP:0001562	Oligohydramnios	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0001560	HP:0001561	Polyhydramnios	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.		51
HP:0001560	HP:0001562	Oligohydramnios	1	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	HP:0040283 - Occasional		45
HP:0001560	HP:0001561	Polyhydramnios	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent		151
HP:0001560	HP:0001561	Polyhydramnios	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001560	HP:0001561	Polyhydramnios	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional		250
HP:0001560	HP:0001561	Polyhydramnios	1	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2	.		12
HP:0001560	HP:0001562	Oligohydramnios	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		158
HP:0001560	HP:0001561	Polyhydramnios	1	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome			12
HP:0001560	HP:0001562	Oligohydramnios	1	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0001560	HP:0001561	Polyhydramnios	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040283 - Occasional		92
HP:0001560	HP:0001561	Polyhydramnios	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0001560	HP:0001562	Oligohydramnios	1	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0001560	HP:0001561	Polyhydramnios	1	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040283 - Occasional		102
HP:0001560	HP:0001561	Polyhydramnios	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0001560	HP:0001562	Oligohydramnios	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		340
HP:0001560	HP:0001562	Oligohydramnios	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		58
HP:0001560	HP:0001561	Polyhydramnios	1	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked			58
HP:0001560	HP:0001561	Polyhydramnios	1	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040281 - Very frequent		58
HP:0001560	HP:0001562	Oligohydramnios	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		410
HP:0001560	HP:0001562	Oligohydramnios	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		147
HP:0001560	HP:0001562	Oligohydramnios	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0001560	HP:0001562	Oligohydramnios	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		87
HP:0001560	HP:0001561	Polyhydramnios	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001560	HP:0001562	Oligohydramnios	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0001560	HP:0001562	Oligohydramnios	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		157
HP:0001560	HP:0001562	Oligohydramnios	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		53
HP:0001560	HP:0001562	Oligohydramnios	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		107
HP:0001560	HP:0001562	Oligohydramnios	1	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0001560	HP:0001562	Oligohydramnios	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0001560	HP:0001562	Oligohydramnios	1	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA	.		63
HP:0001560	HP:0001562	Oligohydramnios	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0001560	HP:0001562	Oligohydramnios	1	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent		2
HP:0001560	HP:0001563	Fetal polyuria	1	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral	HP:0040282 - Frequent		2
HP:0001560	HP:0001561	Polyhydramnios	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0001560	HP:0001561	Polyhydramnios	1	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040282 - Frequent		145
HP:0001560	HP:0001561	Polyhydramnios	1	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2	HP:0040282 - Frequent		145
HP:0001560	HP:0001561	Polyhydramnios	1	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.		145
HP:0001560	HP:0001561	Polyhydramnios	1	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II	.		145
HP:0001560	HP:0001561	Polyhydramnios	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0001560	HP:0001561	Polyhydramnios	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional		111
HP:0001560	HP:0001561	Polyhydramnios	1	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0001560	HP:0001561	Polyhydramnios	1	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040283 - Occasional		233
HP:0001560	HP:0001561	Polyhydramnios	1	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040283 - Occasional		233
HP:0001560	HP:0001561	Polyhydramnios	1	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.		233
HP:0001560	HP:0001561	Polyhydramnios	1	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia	HP:0040282 - Frequent		233
HP:0001560	HP:0001561	Polyhydramnios	1	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	.		47
HP:0001560	HP:0001561	Polyhydramnios	1	FOXE1 CL E G H	2304	3806	ORPHA:1226	Bamforth-Lazarus syndrome	HP:0040281 - Very frequent		9
HP:0001560	HP:0001561	Polyhydramnios	1	FOXE1 CL E G H	2304	3806	OMIM:241850	Hypothyroidism, athyroidal, with spiky hair and cleft palate	.		9
HP:0001560	HP:0001561	Polyhydramnios	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001560	HP:0001561	Polyhydramnios	1	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	.		3
HP:0001560	HP:0001562	Oligohydramnios	1	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0001560	HP:0001562	Oligohydramnios	1	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0001560	HP:0001562	Oligohydramnios	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040283 - Occasional		37
HP:0001560	HP:0001561	Polyhydramnios	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0001560	HP:0001561	Polyhydramnios	1	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV	.		86
HP:0001560	HP:0025700	Anhydramnios	1	GFRA1 CL E G H	2674	4243	OMIM:619887				1
HP:0001560	HP:0001563	Fetal polyuria	1	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral	HP:0040282 - Frequent		1
HP:0001560	HP:0001562	Oligohydramnios	1	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent		1
HP:0001560	HP:0001561	Polyhydramnios	1	GLDN CL E G H	342035	29514	OMIM:617194	Lethal congenital contracture syndrome 11	.		6
HP:0001560	HP:0001561	Polyhydramnios	1	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1	HP:0040282 - Frequent		45
HP:0001560	HP:0001562	Oligohydramnios	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040284 - Very rare		270
HP:0001560	HP:0001562	Oligohydramnios	1	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14	.		34
HP:0001560	HP:0001562	Oligohydramnios	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001560	HP:0001562	Oligohydramnios	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional		240
HP:0001560	HP:0001561	Polyhydramnios	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0001560	HP:0001561	Polyhydramnios	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent		73
HP:0001560	HP:0001561	Polyhydramnios	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0001560	HP:0001561	Polyhydramnios	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0001560	HP:0001561	Polyhydramnios	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001560	HP:0001562	Oligohydramnios	1	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent
HP:0001560	HP:0001563	Fetal polyuria	1	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral	HP:0040282 - Frequent
HP:0001560	HP:0001561	Polyhydramnios	1	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0001560	HP:0001562	Oligohydramnios	1	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040282 - Frequent		4
HP:0001560	HP:0001561	Polyhydramnios	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0001560	HP:0001561	Polyhydramnios	1	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040282 - Frequent		200
HP:0001560	HP:0001562	Oligohydramnios	1	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040282 - Frequent		200
HP:0001560	HP:0001561	Polyhydramnios	1	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040282 - Frequent		88
HP:0001560	HP:0001562	Oligohydramnios	1	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040282 - Frequent		88
HP:0001560	HP:0001561	Polyhydramnios	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0001560	HP:0001562	Oligohydramnios	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0001560	HP:0001561	Polyhydramnios	1	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome	HP:0040282 - Frequent
HP:0001560	HP:0001561	Polyhydramnios	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0001560	HP:0001562	Oligohydramnios	1	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent		2
HP:0001560	HP:0001562	Oligohydramnios	1	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional		90
HP:0001560	HP:0001561	Polyhydramnios	1	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040281 - Very frequent		25
HP:0001560	HP:0001561	Polyhydramnios	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040282 - Frequent		113
HP:0001560	HP:0001561	Polyhydramnios	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0001560	HP:0001562	Oligohydramnios	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0001560	HP:0001561	Polyhydramnios	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency	.		98
HP:0001560	HP:0001562	Oligohydramnios	1	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0001560	HP:0001561	Polyhydramnios	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional		345
HP:0001560	HP:0001561	Polyhydramnios	1	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus	HP:0040281 - Very frequent		31
HP:0001560	HP:0001561	Polyhydramnios	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0001560	HP:0001562	Oligohydramnios	1	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0001560	HP:0001562	Oligohydramnios	1	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040283 - Occasional
HP:0001560	HP:0001561	Polyhydramnios	1	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.		16
HP:0001560	HP:0001562	Oligohydramnios	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0001560	HP:0001562	Oligohydramnios	1	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040282 - Frequent		9
HP:0001560	HP:0001562	Oligohydramnios	1	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent		9
HP:0001560	HP:0001561	Polyhydramnios	1	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13			8
HP:0001560	HP:0001562	Oligohydramnios	1	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA			18
HP:0001560	HP:0001561	Polyhydramnios	1	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	.		18
HP:0001560	HP:0001561	Polyhydramnios	1	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent		18
HP:0001560	HP:0001562	Oligohydramnios	1	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	.		106
HP:0001560	HP:0001561	Polyhydramnios	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001560	HP:0001561	Polyhydramnios	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001560	HP:0001562	Oligohydramnios	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001560	HP:0001561	Polyhydramnios	1	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		99
HP:0001560	HP:0001561	Polyhydramnios	1	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent		79
HP:0001560	HP:0001561	Polyhydramnios	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0001560	HP:0001563	Fetal polyuria	1	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral	HP:0040282 - Frequent		4
HP:0001560	HP:0001562	Oligohydramnios	1	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent		4
HP:0001560	HP:0025700	Anhydramnios	1	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1			4
HP:0001560	HP:0001562	Oligohydramnios	1	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1	.		4
HP:0001560	HP:0001561	Polyhydramnios	1	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		124
HP:0001560	HP:0001561	Polyhydramnios	1	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		124
HP:0001560	HP:0001561	Polyhydramnios	1	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent		124
HP:0001560	HP:0001561	Polyhydramnios	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0001560	HP:0001562	Oligohydramnios	1	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional		222
HP:0001560	HP:0001561	Polyhydramnios	1	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent		141
HP:0001560	HP:0001561	Polyhydramnios	1	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.		141
HP:0001560	HP:0001561	Polyhydramnios	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		80
HP:0001560	HP:0001561	Polyhydramnios	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.		51
HP:0001560	HP:0001563	Fetal polyuria	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.		51
HP:0001560	HP:0001561	Polyhydramnios	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent		3
HP:0001560	HP:0001561	Polyhydramnios	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0001560	HP:0001561	Polyhydramnios	1	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.		24
HP:0001560	HP:0001561	Polyhydramnios	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0001560	HP:0001561	Polyhydramnios	1	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	HP:0040283 - Occasional		4
HP:0001560	HP:0001562	Oligohydramnios	1	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12	.		9
HP:0001560	HP:0001561	Polyhydramnios	1	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus	HP:0040281 - Very frequent		167
HP:0001560	HP:0001561	Polyhydramnios	1	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8			28
HP:0001560	HP:0001561	Polyhydramnios	1	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		28
HP:0001560	HP:0001561	Polyhydramnios	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		13
HP:0001560	HP:0001561	Polyhydramnios	1	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		13
HP:0001560	HP:0001561	Polyhydramnios	1	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		13
HP:0001560	HP:0001561	Polyhydramnios	1	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		13
HP:0001560	HP:0001561	Polyhydramnios	1	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0001560	HP:0001561	Polyhydramnios	1	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040282 - Frequent		196
HP:0001560	HP:0001562	Oligohydramnios	1	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0001560	HP:0001562	Oligohydramnios	1	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia	.		54
HP:0001560	HP:0001561	Polyhydramnios	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0001560	HP:0001562	Oligohydramnios	1	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional
HP:0001560	HP:0001562	Oligohydramnios	1	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040282 - Frequent		144
HP:0001560	HP:0001562	Oligohydramnios	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0001560	HP:0001561	Polyhydramnios	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		645
HP:0001560	HP:0001561	Polyhydramnios	1	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040282 - Frequent
HP:0001560	HP:0001561	Polyhydramnios	1	LMOD1 CL E G H	25802	6647	OMIM:619362	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0001560	HP:0001561	Polyhydramnios	1	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10	.		11
HP:0001560	HP:0001561	Polyhydramnios	1	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		11
HP:0001560	HP:0001561	Polyhydramnios	1	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		11
HP:0001560	HP:0001561	Polyhydramnios	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome	.		8
HP:0001560	HP:0001561	Polyhydramnios	1	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3	HP:0040284 - Very rare		12
HP:0001560	HP:0001561	Polyhydramnios	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0001560	HP:0001562	Oligohydramnios	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1
HP:0001560	HP:0001561	Polyhydramnios	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0001560	HP:0001561	Polyhydramnios	1	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	HP:0040283 - Occasional		63
HP:0001560	HP:0001563	Fetal polyuria	1	MAGED2 CL E G H	10916	16353	OMIM:300971	Bartter syndrome, type 5, antenatal, transient	.		6
HP:0001560	HP:0001561	Polyhydramnios	1	MAGED2 CL E G H	10916	16353	OMIM:300971	Bartter syndrome, type 5, antenatal, transient			6
HP:0001560	HP:0001562	Oligohydramnios	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0001560	HP:0001561	Polyhydramnios	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0001560	HP:0001561	Polyhydramnios	1	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent		5
HP:0001560	HP:0001561	Polyhydramnios	1	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0001560	HP:0001561	Polyhydramnios	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0001560	HP:0001562	Oligohydramnios	1	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.		22
HP:0001560	HP:0001561	Polyhydramnios	1	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0001560	HP:0001561	Polyhydramnios	1	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040281 - Very frequent		1
HP:0001560	HP:0001561	Polyhydramnios	1	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040281 - Very frequent		1
HP:0001560	HP:0001561	Polyhydramnios	1	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:0001560	HP:0001562	Oligohydramnios	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0001560	HP:0001561	Polyhydramnios	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0001560	HP:0001562	Oligohydramnios	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001560	HP:0001561	Polyhydramnios	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001560	HP:0001562	Oligohydramnios	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		127
HP:0001560	HP:0001562	Oligohydramnios	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.		127
HP:0001560	HP:0001561	Polyhydramnios	1	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional		37
HP:0001560	HP:0001561	Polyhydramnios	1	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		12
HP:0001560	HP:0001561	Polyhydramnios	1	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly	HP:0040282 - Frequent		183
HP:0001560	HP:0001561	Polyhydramnios	1	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.		185
HP:0001560	HP:0001561	Polyhydramnios	1	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy			185
HP:0001560	HP:0001561	Polyhydramnios	1	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent		185
HP:0001560	HP:0001561	Polyhydramnios	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		7
HP:0001560	HP:0001561	Polyhydramnios	1	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent		72
HP:0001560	HP:0001561	Polyhydramnios	1	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.		72
HP:0001560	HP:0001561	Polyhydramnios	1	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.		35
HP:0001560	HP:0001561	Polyhydramnios	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		19
HP:0001560	HP:0001561	Polyhydramnios	1	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040282 - Frequent		418
HP:0001560	HP:0001562	Oligohydramnios	1	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2			418
HP:0001560	HP:0001561	Polyhydramnios	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0001560	HP:0001562	Oligohydramnios	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0001560	HP:0001561	Polyhydramnios	1	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040283 - Occasional		166
HP:0001560	HP:0001562	Oligohydramnios	1	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040283 - Occasional		166
HP:0001560	HP:0001561	Polyhydramnios	1	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0001560	HP:0001561	Polyhydramnios	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0001560	HP:0001562	Oligohydramnios	1	MYL9 CL E G H	10398	15754	OMIM:619365	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0001560	HP:0001561	Polyhydramnios	1	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040282 - Frequent		326
HP:0001560	HP:0001562	Oligohydramnios	1	MYLK CL E G H	4638	7590	OMIM:249210	MOVED TO 155310			326
HP:0001560	HP:0001561	Polyhydramnios	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare
HP:0001560	HP:0001561	Polyhydramnios	1	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent
HP:0001560	HP:0001561	Polyhydramnios	1	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0001560	HP:0001561	Polyhydramnios	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		217
HP:0001560	HP:0001562	Oligohydramnios	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001560	HP:0001562	Oligohydramnios	1	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040283 - Occasional		48
HP:0001560	HP:0001561	Polyhydramnios	1	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040283 - Occasional		48
HP:0001560	HP:0001562	Oligohydramnios	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0001560	HP:0001562	Oligohydramnios	1	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001560	HP:0001561	Polyhydramnios	1	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6			745
HP:0001560	HP:0001561	Polyhydramnios	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		745
HP:0001560	HP:0001561	Polyhydramnios	1	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		745
HP:0001560	HP:0001561	Polyhydramnios	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.		745
HP:0001560	HP:0001561	Polyhydramnios	1	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		745
HP:0001560	HP:0001561	Polyhydramnios	1	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		745
HP:0001560	HP:0001561	Polyhydramnios	1	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		4
HP:0001560	HP:0001562	Oligohydramnios	1	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	.		43
HP:0001560	HP:0001562	Oligohydramnios	1	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10	.		9
HP:0001560	HP:0001562	Oligohydramnios	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0001560	HP:0001561	Polyhydramnios	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0001560	HP:0001561	Polyhydramnios	1	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2			33
HP:0001560	HP:0001562	Oligohydramnios	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0001560	HP:0001562	Oligohydramnios	1	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome	HP:0040282 - Frequent		157
HP:0001560	HP:0001561	Polyhydramnios	1	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome	HP:0040282 - Frequent		157
HP:0001560	HP:0001562	Oligohydramnios	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.		157
HP:0001560	HP:0012420	Meconium stained amniotic fluid	1	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional		14
HP:0001560	HP:0001561	Polyhydramnios	1	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0001560	HP:0001561	Polyhydramnios	1	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0001560	HP:0001561	Polyhydramnios	1	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent
HP:0001560	HP:0001561	Polyhydramnios	1	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4	.
HP:0001560	HP:0001561	Polyhydramnios	1	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0001560	HP:0001561	Polyhydramnios	1	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:0001560	HP:0001562	Oligohydramnios	1	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0001560	HP:0001561	Polyhydramnios	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001560	HP:0001561	Polyhydramnios	1	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent		41
HP:0001560	HP:0001561	Polyhydramnios	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040283 - Occasional		231
HP:0001560	HP:0001561	Polyhydramnios	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome	HP:0040282 - Frequent		231
HP:0001560	HP:0001561	Polyhydramnios	1	PAICS CL E G H	10606	8587	OMIM:619859
HP:0001560	HP:0001562	Oligohydramnios	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1349
HP:0001560	HP:0001562	Oligohydramnios	1	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0001560	HP:0001562	Oligohydramnios	1	PBX1 CL E G H	5087	8632	OMIM:617641	Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay	.		3
HP:0001560	HP:0001562	Oligohydramnios	1	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0001560	HP:0001561	Polyhydramnios	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	HP:0040284 - Very rare
HP:0001560	HP:0001562	Oligohydramnios	1	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040283 - Occasional		54
HP:0001560	HP:0001562	Oligohydramnios	1	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital			30
HP:0001560	HP:0001562	Oligohydramnios	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0001560	HP:0001562	Oligohydramnios	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		20
HP:0001560	HP:0001561	Polyhydramnios	1	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0001560	HP:0001561	Polyhydramnios	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.		37
HP:0001560	HP:0001562	Oligohydramnios	1	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional		86
HP:0001560	HP:0001561	Polyhydramnios	1	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional		86
HP:0001560	HP:0001561	Polyhydramnios	1	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040282 - Frequent		11
HP:0001560	HP:0001561	Polyhydramnios	1	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III	.		36
HP:0001560	HP:0001561	Polyhydramnios	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	HP:0040283 - Occasional		46
HP:0001560	HP:0001562	Oligohydramnios	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		36
HP:0001560	HP:0001561	Polyhydramnios	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040282 - Frequent		37
HP:0001560	HP:0001561	Polyhydramnios	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.		37
HP:0001560	HP:0001562	Oligohydramnios	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		84
HP:0001560	HP:0001561	Polyhydramnios	1	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0001560	HP:0001562	Oligohydramnios	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		57
HP:0001560	HP:0001562	Oligohydramnios	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		6
HP:0001560	HP:0001561	Polyhydramnios	1	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6	.		2
HP:0001560	HP:0001562	Oligohydramnios	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0001560	HP:0001562	Oligohydramnios	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		563
HP:0001560	HP:0001562	Oligohydramnios	1	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease	.		563
HP:0001560	HP:0001562	Oligohydramnios	1	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent		3
HP:0001560	HP:0001562	Oligohydramnios	1	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0001560	HP:0001561	Polyhydramnios	1	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia	.		759
HP:0001560	HP:0001561	Polyhydramnios	1	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		759
HP:0001560	HP:0001561	Polyhydramnios	1	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		759
HP:0001560	HP:0012420	Meconium stained amniotic fluid	1	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional		6
HP:0001560	HP:0001561	Polyhydramnios	1	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0001560	HP:0001562	Oligohydramnios	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.		76
HP:0001560	HP:0001561	Polyhydramnios	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0001560	HP:0001561	Polyhydramnios	1	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH			2
HP:0001560	HP:0001561	Polyhydramnios	1	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent		4
HP:0001560	HP:0001561	Polyhydramnios	1	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex			4
HP:0001560	HP:0001561	Polyhydramnios	1	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2			27
HP:0001560	HP:0001561	Polyhydramnios	1	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040281 - Very frequent		58
HP:0001560	HP:0001561	Polyhydramnios	1	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type	.		58
HP:0001560	HP:0001562	Oligohydramnios	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional		19
HP:0001560	HP:0001562	Oligohydramnios	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001560	HP:0001561	Polyhydramnios	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001560	HP:0001562	Oligohydramnios	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001560	HP:0001561	Polyhydramnios	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001560	HP:0001562	Oligohydramnios	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		9
HP:0001560	HP:0001562	Oligohydramnios	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		391
HP:0001560	HP:0001561	Polyhydramnios	1	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0001560	HP:0001561	Polyhydramnios	1	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent		73
HP:0001560	HP:0001562	Oligohydramnios	1	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis	.		25
HP:0001560	HP:0001561	Polyhydramnios	1	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional		572
HP:0001560	HP:0001562	Oligohydramnios	1	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional		572
HP:0001560	HP:0001562	Oligohydramnios	1	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent		572
HP:0001560	HP:0001563	Fetal polyuria	1	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral	HP:0040282 - Frequent		572
HP:0001560	HP:0001562	Oligohydramnios	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0001560	HP:0001562	Oligohydramnios	1	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional		13
HP:0001560	HP:0001562	Oligohydramnios	1	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional		8
HP:0001560	HP:0001561	Polyhydramnios	1	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced		HP:0030674 - Antenatal onset	16
HP:0001560	HP:0001562	Oligohydramnios	1	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional		16
HP:0001560	HP:0001561	Polyhydramnios	1	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0001560	HP:0001562	Oligohydramnios	1	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0001560	HP:0001562	Oligohydramnios	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0001560	HP:0001562	Oligohydramnios	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		109
HP:0001560	HP:0001562	Oligohydramnios	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		167
HP:0001560	HP:0001561	Polyhydramnios	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0001560	HP:0001561	Polyhydramnios	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional		10
HP:0001560	HP:0001561	Polyhydramnios	1	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.		22
HP:0001560	HP:0001561	Polyhydramnios	1	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0001560	HP:0001561	Polyhydramnios	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001560	HP:0001561	Polyhydramnios	1	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040281 - Very frequent
HP:0001560	HP:0001561	Polyhydramnios	1	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040281 - Very frequent
HP:0001560	HP:0001561	Polyhydramnios	1	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040281 - Very frequent
HP:0001560	HP:0001561	Polyhydramnios	1	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:0001560	HP:0001561	Polyhydramnios	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		1200
HP:0001560	HP:0001561	Polyhydramnios	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional		1200
HP:0001560	HP:0001561	Polyhydramnios	1	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.		1200
HP:0001560	HP:0001562	Oligohydramnios	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001560	HP:0001561	Polyhydramnios	1	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia			357
HP:0001560	HP:0001561	Polyhydramnios	1	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0001560	HP:0001562	Oligohydramnios	1	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0001560	HP:0001561	Polyhydramnios	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001560	HP:0001562	Oligohydramnios	1	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2	.		5
HP:0001560	HP:0001561	Polyhydramnios	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0001560	HP:0001561	Polyhydramnios	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		16
HP:0001560	HP:0001562	Oligohydramnios	1	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0001560	HP:0001561	Polyhydramnios	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0001560	HP:0001561	Polyhydramnios	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0001560	HP:0001561	Polyhydramnios	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0001560	HP:0001561	Polyhydramnios	1	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.		75
HP:0001560	HP:0001563	Fetal polyuria	1	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.		75
HP:0001560	HP:0001561	Polyhydramnios	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040284 - Very rare		57
HP:0001560	HP:0001561	Polyhydramnios	1	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent		2
HP:0001560	HP:0001561	Polyhydramnios	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0001560	HP:0001561	Polyhydramnios	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		28
HP:0001560	HP:0001561	Polyhydramnios	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0001560	HP:0001562	Oligohydramnios	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001560	HP:0001561	Polyhydramnios	1	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28			5
HP:0001560	HP:0001561	Polyhydramnios	1	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E			14
HP:0001560	HP:0001561	Polyhydramnios	1	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B	HP:0040282 - Frequent		166
HP:0001560	HP:0001561	Polyhydramnios	1	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.		166
HP:0001560	HP:0001561	Polyhydramnios	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040283 - Occasional		166
HP:0001560	HP:0001561	Polyhydramnios	1	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital	.		89
HP:0001560	HP:0001561	Polyhydramnios	1	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS			26
HP:0001560	HP:0001562	Oligohydramnios	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0001560	HP:0001561	Polyhydramnios	1	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent		9
HP:0001560	HP:0001561	Polyhydramnios	1	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia	.		9
HP:0001560	HP:0001561	Polyhydramnios	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		9
HP:0001560	HP:0012420	Meconium stained amniotic fluid	1	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3			81
HP:0001560	HP:0001561	Polyhydramnios	1	SLC9A3 CL E G H	6550	11073	OMIM:616868	Diarrhea 8, secretory sodium, congenital			7
HP:0001560	HP:0001562	Oligohydramnios	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		274
HP:0001560	HP:0001561	Polyhydramnios	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0001560	HP:0001561	Polyhydramnios	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0001560	HP:0001561	Polyhydramnios	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001560	HP:0001562	Oligohydramnios	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001560	HP:0001562	Oligohydramnios	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001560	HP:0001561	Polyhydramnios	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001560	HP:0001561	Polyhydramnios	1	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.		6
HP:0001560	HP:0001562	Oligohydramnios	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0001560	HP:0001561	Polyhydramnios	1	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0001560	HP:0001561	Polyhydramnios	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0001560	HP:0001561	Polyhydramnios	1	SOX17 CL E G H	64321	18122	OMIM:613674	Vesicoureteral reflux 3	.		3
HP:0001560	HP:0001561	Polyhydramnios	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.		109
HP:0001560	HP:0001561	Polyhydramnios	1	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies	.		6
HP:0001560	HP:0001561	Polyhydramnios	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0001560	HP:0001561	Polyhydramnios	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0001560	HP:0001561	Polyhydramnios	1	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0001560	HP:0001561	Polyhydramnios	1	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	HP:0040281 - Very frequent		6
HP:0001560	HP:0001561	Polyhydramnios	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		4
HP:0001560	HP:0001562	Oligohydramnios	1	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.		34
HP:0001560	HP:0001561	Polyhydramnios	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0001560	HP:0001561	Polyhydramnios	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent		271
HP:0001560	HP:0001561	Polyhydramnios	1	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:0001560	HP:0001562	Oligohydramnios	1	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0001560	HP:0001562	Oligohydramnios	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare		13
HP:0001560	HP:0001561	Polyhydramnios	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0001560	HP:0001562	Oligohydramnios	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		45
HP:0001560	HP:0001562	Oligohydramnios	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		76
HP:0001560	HP:0025700	Anhydramnios	1	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8			76
HP:0001560	HP:0001562	Oligohydramnios	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		31
HP:0001560	HP:0001562	Oligohydramnios	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent		31
HP:0001560	HP:0001561	Polyhydramnios	1	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040282 - Frequent		6
HP:0001560	HP:0001561	Polyhydramnios	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0001560	HP:0001562	Oligohydramnios	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		4
HP:0001560	HP:0001562	Oligohydramnios	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		45
HP:0001560	HP:0001562	Oligohydramnios	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		33
HP:0001560	HP:0001562	Oligohydramnios	1	TMEM231 CL E G H	79583	37234	OMIM:615397	Meckel syndrome, type 11	.		33
HP:0001560	HP:0001562	Oligohydramnios	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		82
HP:0001560	HP:0001562	Oligohydramnios	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		166
HP:0001560	HP:0001562	Oligohydramnios	1	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.		63
HP:0001560	HP:0001562	Oligohydramnios	1	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040281 - Very frequent		63
HP:0001560	HP:0001561	Polyhydramnios	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0001560	HP:0001561	Polyhydramnios	1	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		140
HP:0001560	HP:0001562	Oligohydramnios	1	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0001560	HP:0001561	Polyhydramnios	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		54
HP:0001560	HP:0001561	Polyhydramnios	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0001560	HP:0001561	Polyhydramnios	1	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		54
HP:0001560	HP:0001561	Polyhydramnios	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		108
HP:0001560	HP:0001561	Polyhydramnios	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0001560	HP:0001561	Polyhydramnios	1	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		108
HP:0001560	HP:0001561	Polyhydramnios	1	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9	.		2
HP:0001560	HP:0001561	Polyhydramnios	1	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:0001560	HP:0001561	Polyhydramnios	1	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040282 - Frequent		133
HP:0001560	HP:0001561	Polyhydramnios	1	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.		133
HP:0001560	HP:0001561	Polyhydramnios	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent		2
HP:0001560	HP:0001562	Oligohydramnios	1	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0001560	HP:0001561	Polyhydramnios	1	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal	.		4
HP:0001560	HP:0001561	Polyhydramnios	1	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4	HP:0040282 - Frequent		102
HP:0001560	HP:0001561	Polyhydramnios	1	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4	.		102
HP:0001560	HP:0001561	Polyhydramnios	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001560	HP:0001561	Polyhydramnios	1	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040282 - Frequent		26
HP:0001560	HP:0001561	Polyhydramnios	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome	.		26
HP:0001560	HP:0001561	Polyhydramnios	1	TTC7A CL E G H	57217	19750	ORPHA:2300	Multiple intestinal atresia	HP:0040282 - Frequent		26
HP:0001560	HP:0001561	Polyhydramnios	1	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent		106
HP:0001560	HP:0001562	Oligohydramnios	1	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0001560	HP:0001562	Oligohydramnios	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		2
HP:0001560	HP:0001562	Oligohydramnios	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional		7
HP:0001560	HP:0001562	Oligohydramnios	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		2
HP:0001560	HP:0001561	Polyhydramnios	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001560	HP:0001562	Oligohydramnios	1	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0001560	HP:0001561	Polyhydramnios	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional		6
HP:0001560	HP:0001561	Polyhydramnios	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0001560	HP:0001561	Polyhydramnios	1	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly	HP:0040282 - Frequent		2
HP:0001560	HP:0001562	Oligohydramnios	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0001560	HP:0001561	Polyhydramnios	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0001560	HP:0001562	Oligohydramnios	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.		14
HP:0001560	HP:0001561	Polyhydramnios	1	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies	.		27
HP:0001560	HP:0001561	Polyhydramnios	1	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040281 - Very frequent		12
HP:0001560	HP:0001562	Oligohydramnios	1	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	.		4
HP:0001560	HP:0001562	Oligohydramnios	1	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome	HP:0040280 - Obligate		4
HP:0001560	HP:0001563	Fetal polyuria	1	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral	HP:0040282 - Frequent
HP:0001560	HP:0001562	Oligohydramnios	1	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent
HP:0001560	HP:0001562	Oligohydramnios	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		125
HP:0001560	HP:0001561	Polyhydramnios	1	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome	HP:0040282 - Frequent		14
HP:0001560	HP:0001561	Polyhydramnios	1	ZBTB42 CL E G H	100128927	32550	OMIM:616248	Lethal congenital contracture syndrome 6	.		1
HP:0001560	HP:0001561	Polyhydramnios	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0001560	HP:0001561	Polyhydramnios	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001560	HP:0001561	Polyhydramnios	1	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked			39
HP:0001560	HP:0001561	Polyhydramnios	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		83
HP:0001560	HP:0001561	Polyhydramnios	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.		83
HP:0001560	HP:0001562	Oligohydramnios	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0001560	HP:0001561	Polyhydramnios	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS