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:0001197	HP:0001197	Abnormality of prenatal development or birth	0	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ABCA12 CL E G H	26154	14637	OMIM:242500	Ichthyosis, congenital, autosomal recessive 4B			130
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ABCA3 CL E G H	21	33	ORPHA:70587	Infant acute respiratory distress syndrome			147
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy			146
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ABCB4 CL E G H	5244	45	OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3			111
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy			111
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum			415
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus			245
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis			113
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy			96
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			96
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3			96
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy			96
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy			96
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy			96
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			94
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome			23
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5			23
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1			23
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome			75
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive			165
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ADAMTS3 CL E G H	9508	219	OMIM:618154	Hennekam lymphangiectasia-lymphedema syndrome 3			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9			5
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe			59
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis			48
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis			33
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency			31
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3			4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	AKAP9 CL E G H	10142	379	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare		289
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ALB CL E G H	213	399	OMIM:616000	Analbuminemia			104
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia			104
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent			227
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy			227
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik			58
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG			46
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27			89
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile			126
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome			132
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ANK2 CL E G H	287	493	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare		539
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ANXA5 CL E G H	308	543	OMIM:614391	Pregnancy loss, recurrent, susceptibility to, 3			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			7
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus			75
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome			15
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD			239
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			239
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			150
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ATP6V0A1 CL E G H	535	865	OMIM:619971				1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ATP8B1 CL E G H	5205	3706	OMIM:147480	Cholestasis, intrahepatic, of pregnancy, 1			144
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy			144
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus			67
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME			38
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome			28
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome			34
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	BCL10 CL E G H	8915	989	OMIM:273300	Testicular tumor, somatic			18
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy			46
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant			46
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2			99
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve			22
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness			53
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			53
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	BTG4 CL E G H	54766	13862	OMIM:619009	OOCYTE MATURATION DEFECT 8; OOMD8
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	C11ORF80 CL E G H	79703	26197	OMIM:618432	HYDATIDIFORM MOLE, RECURRENT, 4; HYDM4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia			56
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia			56
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			449
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CACNA1C CL E G H	775	1390	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare		572
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome			51
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			59
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CALCRL CL E G H	10203	16709	OMIM:618773	LYMPHATIC MALFORMATION 8; LMPHM8			3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CALM1 CL E G H	801	1442	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare		18
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CALM2 CL E G H	805	1445	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare		13
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CALM3 CL E G H	808	1449	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare		16
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27			35
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome			87
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CAV3 CL E G H	859	1529	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare		148
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome			247
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome			39
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia			86
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome			289
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly			200
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome			342
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome			86
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome			57
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy			35
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome			515
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome			833
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia			42
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia			42
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome			4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome			4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type			74
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type			88
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CHRND CL E G H	1144	1965	OMIM:616322	Myasthenic syndrome, congenital, 3B, fast-channel			88
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			139
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type			68
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome			3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			9
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			9
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			27
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			27
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A			38
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			18
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north			40
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7			9
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome			215
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia			222
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			65
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1			373
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA			373
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2			243
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA			243
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita			3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II			284
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type			284
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type			284
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type			284
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome			749
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1			442
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			442
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1			478
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			478
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1			702
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			702
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia			5
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CORIN CL E G H	10699	19012	OMIM:614595	Preeclampsia/eclampsia 5			5
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10			4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	COX15 CL E G H	1355	2263	OMIM:615119	Mitochondrial complex IV deficiency, nuclear type 6			104
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency			99
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CRB2 CL E G H	286204	18688	OMIM:219730	Ventriculomegaly with cystic kidney disease			12
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII			124
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome			57
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent		31
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent		31
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I			112
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I			73
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome			94
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			47
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome			164
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly			22
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly			3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1			152
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome			41
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			72
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5			167
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2			18
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DOK7 CL E G H	285489	26594	OMIM:618389	FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3			91
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial			91
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome			9
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism			121
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			304
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DYNC2I2 CL E G H	89891	28296	OMIM:615633	Short-Rib thoracic dysplasia 11 with or without polydactyly
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome			51
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	EBP CL E G H	10682	3133	ORPHA:35173	X-linked dominant chondrodysplasia punctata			51
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38			60
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			60
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB			45
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			172
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1			151
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum			151
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis			6
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation			3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7			3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2			12
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3			83
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome			12
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome			92
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome			102
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency			28
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency			60
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency			32
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	F2 CL E G H	2147	3535	ORPHA:325	Congenital factor II deficiency			44
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	F2 CL E G H	2147	3535	OMIM:614390	Pregnancy loss, recurrent, susceptibility to, 2			44
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	F5 CL E G H	2153	3542	OMIM:614389	Pregnancy loss, recurrent, susceptibility to, 1			159
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	F5 CL E G H	2153	3542	OMIM:188055	Thrombophilia due to deficiency of activated protein C cofactor			159
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	F7 CL E G H	2155	3544	ORPHA:327	Congenital factor VII deficiency			70
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A			303
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked			58
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus			58
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome			59
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome			37
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA			63
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			1361
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FBXO43 CL E G H	286151	28521	OMIM:619697	OOCYTE MATURATION DEFECT 12; OOMD12
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia			5
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome			136
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly			17
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly			172
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum			172
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FGFR3 CL E G H	2261	3690	OMIM:273300	Testicular tumor, somatic			145
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1			145
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2			145
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II			145
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I			233
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III			233
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I			233
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia			233
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia			11
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1			90
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome			47
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FOXE1 CL E G H	2304	3806	ORPHA:1226	Bamforth-Lazarus syndrome			9
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FOXE1 CL E G H	2304	3806	OMIM:241850	Hypothyroidism, athyroidal, with spiky hair and cleft palate			9
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			23
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly			48
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1			3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence			3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FZD4 CL E G H	8322	4042	ORPHA:90050	Retinopathy of prematurity			109
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			44
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			139
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency			23
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV			86
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			128
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GFRA1 CL E G H	2674	4243	OMIM:619887				1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome			68
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans			199
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GJB2 CL E G H	2706	4284	OMIM:124500	VOHWINKEL SYNDROME; VOWNKL			199
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II			120
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GLDN CL E G H	342035	29514	OMIM:617194	Lethal congenital contracture syndrome 11			6
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GLE1 CL E G H	2733	4315	OMIM:253310	Lethal congenital contracture syndrome 1			45
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1			45
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly			173
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2			46
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14			34
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14			34
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			23
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			8
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia			99
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GRIP1 CL E G H	23426	18708	OMIM:617667	Fraser syndrome 3			80
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia			126
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia			126
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7			54
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis			5
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HACD1 CL E G H	9200	9639	OMIM:619967				2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis			200
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis			88
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease			580
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			54
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum			21
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency			148
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency			161
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome			90
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome			8
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association			25
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HTR1A CL E G H	3350	5286	OMIM:614674	Periodic fever, menstrual cycle-dependent			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus			31
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3			16
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			65
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			9
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13			8
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome			48
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome			94
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA			18
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia			18
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2			106
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip			99
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			119
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			69
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia			79
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral			4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1			4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I			114
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			80
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			124
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			124
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia			124
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome			141
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			65
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KCNE1 CL E G H	3753	6240	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare		148
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KCNE2 CL E G H	9992	6242	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare		43
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KCNH2 CL E G H	3757	6251	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare		901
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency			127
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3			127
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KCNJ11 CL E G H	3767	6257	OMIM:616329	Maturity-onset diabetes of the young, type 13			127
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus			127
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KCNJ5 CL E G H	3762	6266	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare		128
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome			3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KCNQ1 CL E G H	3784	6294	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare		730
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KCNQ5 CL E G H	56479	6299	OMIM:617601	Mental retardation, autosomal dominant 46			5
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KHDC3L CL E G H	154288	33699	OMIM:614293	HYDATIDIFORM MOLE, RECURRENT, 2; HYDM2			5
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly			24
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome			4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12			9
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KIF20A CL E G H	10112	9787	OMIM:619433	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus			167
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KIT CL E G H	3815	6342	OMIM:273300	Testicular tumor, somatic			327
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8			28
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy			28
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy			13
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9			13
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy			13
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy			13
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome			196
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia			54
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia			70
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency			35
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect			6
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome			88
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation			645
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type			645
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related			645
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2			645
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LMOD1 CL E G H	25802	6647	OMIM:619362	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10			11
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy			11
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy			11
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			6
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LRP5 CL E G H	4041	6697	ORPHA:90050	Retinopathy of prematurity			125
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3			12
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy			63
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MAGED2 CL E G H	10916	16353	OMIM:300971	Bartter syndrome, type 5, antenatal, transient			6
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			63
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome			5
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia			140
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia			140
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			13
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome			22
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54			69
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2			4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset			158
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MEI1 CL E G H	150365	28613	OMIM:618431	Hydatidiform mole, recurrent, 3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			11
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome			127
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MME CL E G H	4311	7154	ORPHA:69063	Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization			18
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2			134
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2			60
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5			25
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip			12
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly			183
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly			183
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy			185
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome			185
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D			9
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			418
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome			418
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2			418
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve			1269
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1269
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MYL9 CL E G H	10398	15754	OMIM:619365	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			326
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome			326
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MYLK CL E G H	4638	7590	OMIM:249210	MOVED TO 155310			326
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome			5
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDP CL E G H	4693	7678	ORPHA:90050	Retinopathy of prematurity			39
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDUFB11 CL E G H	54539	20372	OMIM:301021	Mitochondrial complex I deficiency, nuclear type 30			3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDUFB3 CL E G H	4709	7698	OMIM:618246	Mitochondrial complex I deficiency, nuclear type 25			9
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6			745
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy			745
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy			745
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy			745
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NECAP1 CL E G H	25977	24539	OMIM:615833	Epileptic encephalopathy, early infantile, 21			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip			4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2			43
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome			90
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome			217
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NLRP7 CL E G H	199713	22947	OMIM:231090	Hydatidiform mole, recurrent, 1			171
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly			45
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NOS1AP CL E G H	9722	16859	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare		4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NOS3 CL E G H	4846	7876	OMIM:189800	Preeclampsia/eclampsia 1			8
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1			258
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2			33
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome			157
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5			14
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy			14
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NR3C2 CL E G H	4306	7979	OMIM:605115	Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy			109
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			8
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome			5
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14			214
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	OSTM1 CL E G H	28962	21652	ORPHA:85179	Infantile osteopetrosis with neuroaxonal dysplasia			73
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			41
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum			41
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PADI6 CL E G H	353238	20449	OMIM:617234	Preimplantation embryonic lethality 2			5
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation			231
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome			231
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PAICS CL E G H	10606	8587	OMIM:619859
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			14
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	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:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital			30
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)			47
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome			86
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis			11
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease			563
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency			51
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			759
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy			6
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures			92
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency			92
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	POMP CL E G H	51371	20330	OMIM:601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3			42
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome			7
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PREPL CL E G H	9581	30228	ORPHA:163690	Hypotonia-cystinuria syndrome			7
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome			10
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			41
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum			34
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex			4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies			8
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2			27
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form			27
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia			241
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia			241
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly			665
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia			58
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type			58
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PTPN23 CL E G H	25930	14406	OMIM:618890	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS			3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME			9
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome			127
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome			50
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2			73
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency			73
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation			88
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	REC114 CL E G H	283677	25065	OMIM:619176	OOCYTE MATURATION DEFECT 10; OOMD10
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis			25
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome			572
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral			572
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome			13
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome			8
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced			16
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome			16
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia			37
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome			37
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome			109
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome			167
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease			1200
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia			1200
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1200
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome			60
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SCN10A CL E G H	6336	10582	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare		146
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			70
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SCN4B CL E G H	6330	10592	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare		110
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SCN5A CL E G H	6331	10593	OMIM:603830	Long QT syndrome 3			1134
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SCN5A CL E G H	6331	10593	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare		1134
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia			357
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			357
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2			5
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			144
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency			88
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency			39
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SERPINH1 CL E G H	871	1546	OMIM:610504	Preterm premature rupture of the membranes			52
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SFTPB CL E G H	6439	10801	ORPHA:70587	Infant acute respiratory distress syndrome			51
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SFTPC CL E G H	6440	10802	ORPHA:70587	Infant acute respiratory distress syndrome			33
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly			67
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly			32
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal			75
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			73
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease			78
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly			36
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency			40
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28			5
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E			14
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B			166
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB			166
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital			89
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS			26
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome			26
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia			9
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome			55
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC3A1 CL E G H	6519	11025	ORPHA:163690	Hypotonia-cystinuria syndrome			55
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3			81
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLC9A3 CL E G H	6550	11073	OMIM:616868	Diarrhea 8, secretory sodium, congenital			7
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			7
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			260
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			504
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome			6
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia			74
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I			22
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			37
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SNTA1 CL E G H	6640	11167	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare		118
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SOX17 CL E G H	64321	18122	OMIM:613674	Vesicoureteral reflux 3			3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome			7
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome			7
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome			7
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum			33
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum			24
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies			6
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis			228
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis			156
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia			62
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3			9
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	STK11 CL E G H	6794	11389	OMIM:273300	Testicular tumor, somatic			740
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	STOX1 CL E G H	219736	23508	OMIM:609404	Preeclampsia/eclampsia 4			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome			6
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly			124
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SYCP3 CL E G H	50511	18130	OMIM:270960	Spermatogenic failure 4			12
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type			1129
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			108
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			9
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			123
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency			34
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TBX5 CL E G H	6910	11604	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare		123
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome			45
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome			76
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8			76
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome			31
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			162
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			85
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			239
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			253
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly			32
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1			98
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome			4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome			45
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome			33
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TMEM231 CL E G H	79583	37234	OMIM:615397	Meckel syndrome, type 11			33
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome			82
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome			166
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2			63
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome			911
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome			911
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TP63 CL E G H	8626	15979	ORPHA:1072	Ankyloblepharon filiforme adnatum-cleft palate syndrome			140
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip			140
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			54
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy			54
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy			108
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			108
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TRDN CL E G H	10345	12261	ORPHA:101016	Romano-Ward syndrome	HP:0040284 - Very rare		145
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia			31
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia			31
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A			133
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TRIP13 CL E G H	9319	12307	OMIM:619011	OOCYTE MATURATION DEFECT 9; OOMD9			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive			214
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal			4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4			102
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4			102
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3			43
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TSHR CL E G H	7253	12373	ORPHA:99819	Familial gestational hyperthyroidism			97
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TSHR CL E G H	7253	12373	OMIM:603373	HYPERTHYROIDISM, FAMILIAL GESTATIONAL			97
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TSHR CL E G H	7253	12373	OMIM:609152	Hyperthyroidism, nonautoimmune			97
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome			26
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TTC7A CL E G H	57217	19750	ORPHA:2300	Multiple intestinal atresia			26
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2			35
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence			111
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia			63
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia			63
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3			2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			136
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly			136
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome			14
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies			27
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive			12
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome			12
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs			4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome			4
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type			13
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			149
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome			14
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ZBTB42 CL E G H	100128927	32550	OMIM:616248	Lethal congenital contracture syndrome 6			1
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus			30
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly			34
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked			39
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0001197	HP:0001197	Abnormality of prenatal development or birth	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001197	HP:0034057	Fetal anomaly	1	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0001622	Premature birth	1	ABCA12 CL E G H	26154	14637	OMIM:242500	Ichthyosis, congenital, autosomal recessive 4B	.		130
HP:0001197	HP:0001622	Premature birth	1	ABCA3 CL E G H	21	33	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040282 - Frequent		147
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy			146
HP:0001197	HP:0001622	Premature birth	1	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		146
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy			146
HP:0001197	HP:0034057	Fetal anomaly	1	ABCB4 CL E G H	5244	45	OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3			111
HP:0001197	HP:0001622	Premature birth	1	ABCB4 CL E G H	5244	45	OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3	.		111
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy			111
HP:0001197	HP:0001622	Premature birth	1	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		111
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy			111
HP:0001197	HP:0034057	Fetal anomaly	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0001197	HP:0034057	Fetal anomaly	1	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum			415
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus			245
HP:0001197	HP:0034057	Fetal anomaly	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis			113
HP:0001197	HP:0034057	Fetal anomaly	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0001197	HP:0001787	Abnormal delivery	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0001197	HP:0034057	Fetal anomaly	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0001197	HP:0034057	Fetal anomaly	1	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy			96
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy			96
HP:0001197	HP:0001622	Premature birth	1	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional		96
HP:0001197	HP:0034057	Fetal anomaly	1	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			96
HP:0001197	HP:0034057	Fetal anomaly	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3			96
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3			96
HP:0001197	HP:0034057	Fetal anomaly	1	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy			96
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy			96
HP:0001197	HP:0001622	Premature birth	1	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		96
HP:0001197	HP:0001787	Abnormal delivery	1	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy			96
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy			96
HP:0001197	HP:0034057	Fetal anomaly	1	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy			96
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		94
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome			23
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5			23
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1			23
HP:0001197	HP:0034057	Fetal anomaly	1	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001197	HP:0034057	Fetal anomaly	1	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome			75
HP:0001197	HP:0034057	Fetal anomaly	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001197	HP:0001622	Premature birth	1	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.		165
HP:0001197	HP:0001787	Abnormal delivery	1	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive			165
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ADAMTS3 CL E G H	9508	219	OMIM:618154	Hennekam lymphangiectasia-lymphedema syndrome 3			1
HP:0001197	HP:0034057	Fetal anomaly	1	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0001197	HP:0034057	Fetal anomaly	1	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9			5
HP:0001197	HP:0034057	Fetal anomaly	1	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9			5
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9			5
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9			5
HP:0001197	HP:0034057	Fetal anomaly	1	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe			59
HP:0001197	HP:0034057	Fetal anomaly	1	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome			1
HP:0001197	HP:0034057	Fetal anomaly	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis			48
HP:0001197	HP:0001787	Abnormal delivery	1	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis			33
HP:0001197	HP:0034057	Fetal anomaly	1	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency			31
HP:0001197	HP:0001622	Premature birth	1	AIMP1 CL E G H	9255	10648	OMIM:260600	Leukodystrophy, hypomyelinating, 3	.		4
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ALB CL E G H	213	399	OMIM:616000	Analbuminemia			104
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia			104
HP:0001197	HP:0001622	Premature birth	1	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040282 - Frequent		104
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0001197	HP:0034057	Fetal anomaly	1	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent			227
HP:0001197	HP:0034057	Fetal anomaly	1	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy			227
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy			227
HP:0001197	HP:0030917	Low APGAR score	1	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent		227
HP:0001197	HP:0034057	Fetal anomaly	1	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik			58
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik	.		58
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0001197	HP:0001622	Premature birth	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional		68
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0001197	HP:0034057	Fetal anomaly	1	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0001197	HP:0034057	Fetal anomaly	1	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG			46
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG			46
HP:0001197	HP:0001622	Premature birth	1	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040282 - Frequent		46
HP:0001197	HP:0034057	Fetal anomaly	1	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0001197	HP:0034057	Fetal anomaly	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0001197	HP:0034057	Fetal anomaly	1	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0001197	HP:0034057	Fetal anomaly	1	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0001197	HP:0034057	Fetal anomaly	1	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27			89
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile			126
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome			132
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	ANXA5 CL E G H	308	543	OMIM:614391	Pregnancy loss, recurrent, susceptibility to, 3			1
HP:0001197	HP:0034057	Fetal anomaly	1	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			7
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus			75
HP:0001197	HP:0001622	Premature birth	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		147
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum
HP:0001197	HP:0001787	Abnormal delivery	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0001197	HP:0034057	Fetal anomaly	1	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0001197	HP:0034057	Fetal anomaly	1	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0001197	HP:0034057	Fetal anomaly	1	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0001197	HP:0001622	Premature birth	1	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0001197	HP:0034057	Fetal anomaly	1	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome			15
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome			15
HP:0001197	HP:0001787	Abnormal delivery	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0001197	HP:0034057	Fetal anomaly	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0001197	HP:0001787	Abnormal delivery	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0001197	HP:0034057	Fetal anomaly	1	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0001197	HP:0034057	Fetal anomaly	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0001197	HP:0034057	Fetal anomaly	1	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD			239
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD			239
HP:0001197	HP:0034057	Fetal anomaly	1	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			239
HP:0001197	HP:0034057	Fetal anomaly	1	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			150
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ATP6V0A1 CL E G H	535	865	OMIM:619971				1
HP:0001197	HP:0001787	Abnormal delivery	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0001197	HP:0001787	Abnormal delivery	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0001197	HP:0034057	Fetal anomaly	1	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0001197	HP:0034057	Fetal anomaly	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0001197	HP:0034057	Fetal anomaly	1	ATP8B1 CL E G H	5205	3706	OMIM:147480	Cholestasis, intrahepatic, of pregnancy, 1			144
HP:0001197	HP:0001622	Premature birth	1	ATP8B1 CL E G H	5205	3706	OMIM:147480	Cholestasis, intrahepatic, of pregnancy, 1	.		144
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy			144
HP:0001197	HP:0001622	Premature birth	1	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		144
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy			144
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus			67
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME			38
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0001197	HP:0034057	Fetal anomaly	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0001197	HP:0001622	Premature birth	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome			28
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome			34
HP:0001197	HP:0034057	Fetal anomaly	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	BCL10 CL E G H	8915	989	OMIM:273300	Testicular tumor, somatic			18
HP:0001197	HP:0034057	Fetal anomaly	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0001197	HP:0001622	Premature birth	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040281 - Very frequent		5
HP:0001197	HP:0034057	Fetal anomaly	1	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy			46
HP:0001197	HP:0034057	Fetal anomaly	1	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant			46
HP:0001197	HP:0034057	Fetal anomaly	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0001197	HP:0034057	Fetal anomaly	1	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2			99
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2			99
HP:0001197	HP:0034057	Fetal anomaly	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0001197	HP:0034057	Fetal anomaly	1	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve			22
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve			22
HP:0001197	HP:0001622	Premature birth	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		276
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0001197	HP:0001622	Premature birth	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.		276
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0001197	HP:0034057	Fetal anomaly	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0001197	HP:0001622	Premature birth	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0001197	HP:0034057	Fetal anomaly	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness			53
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness			53
HP:0001197	HP:0001622	Premature birth	1	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.		53
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			53
HP:0001197	HP:0001622	Premature birth	1	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		53
HP:0001197	HP:0033334	Abnormal embryonic development	1	BTG4 CL E G H	54766	13862	OMIM:619009	OOCYTE MATURATION DEFECT 8; OOMD8
HP:0001197	HP:0034057	Fetal anomaly	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0001197	HP:0034057	Fetal anomaly	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0001197	HP:0034057	Fetal anomaly	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0001197	HP:0034057	Fetal anomaly	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	C11ORF80 CL E G H	79703	26197	OMIM:618432	HYDATIDIFORM MOLE, RECURRENT, 4; HYDM4
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	C11ORF80 CL E G H	79703	26197	OMIM:618432	HYDATIDIFORM MOLE, RECURRENT, 4; HYDM4
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0001197	HP:0034057	Fetal anomaly	1	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia			56
HP:0001197	HP:0034057	Fetal anomaly	1	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia			56
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0001197	HP:0034057	Fetal anomaly	1	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			449
HP:0001197	HP:0034057	Fetal anomaly	1	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0001197	HP:0001787	Abnormal delivery	1	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome			51
HP:0001197	HP:0034057	Fetal anomaly	1	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			59
HP:0001197	HP:0034057	Fetal anomaly	1	CALCRL CL E G H	10203	16709	OMIM:618773	LYMPHATIC MALFORMATION 8; LMPHM8			3
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CALCRL CL E G H	10203	16709	OMIM:618773	LYMPHATIC MALFORMATION 8; LMPHM8			3
HP:0001197	HP:0034057	Fetal anomaly	1	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001197	HP:0034057	Fetal anomaly	1	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome			1
HP:0001197	HP:0034057	Fetal anomaly	1	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27			35
HP:0001197	HP:0034057	Fetal anomaly	1	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome			87
HP:0001197	HP:0034057	Fetal anomaly	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome			247
HP:0001197	HP:0034057	Fetal anomaly	1	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0001197	HP:0034057	Fetal anomaly	1	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation			1
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0001197	HP:0034057	Fetal anomaly	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0001197	HP:0001787	Abnormal delivery	1	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome			39
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome			39
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome			83
HP:0001197	HP:0034057	Fetal anomaly	1	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia			86
HP:0001197	HP:0034057	Fetal anomaly	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001197	HP:0001787	Abnormal delivery	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0001197	HP:0034057	Fetal anomaly	1	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome			289
HP:0001197	HP:0001622	Premature birth	1	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		200
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly			200
HP:0001197	HP:0034057	Fetal anomaly	1	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome			342
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly			2
HP:0001197	HP:0034057	Fetal anomaly	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome			86
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome			86
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome			57
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome			57
HP:0001197	HP:0001787	Abnormal delivery	1	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy			35
HP:0001197	HP:0034057	Fetal anomaly	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0001197	HP:0034057	Fetal anomaly	1	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome			515
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome			833
HP:0001197	HP:0034057	Fetal anomaly	1	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia			42
HP:0001197	HP:0034057	Fetal anomaly	1	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia			42
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome			4
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome			4
HP:0001197	HP:0034057	Fetal anomaly	1	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type			74
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type			74
HP:0001197	HP:0034057	Fetal anomaly	1	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type			88
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type			88
HP:0001197	HP:0034057	Fetal anomaly	1	CHRND CL E G H	1144	1965	OMIM:616322	Myasthenic syndrome, congenital, 3B, fast-channel			88
HP:0001197	HP:0034057	Fetal anomaly	1	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			139
HP:0001197	HP:0034057	Fetal anomaly	1	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0001197	HP:0034057	Fetal anomaly	1	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type			68
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type			68
HP:0001197	HP:0001787	Abnormal delivery	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0001197	HP:0034057	Fetal anomaly	1	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome			3
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0001197	HP:0034057	Fetal anomaly	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development			102
HP:0001197	HP:0001622	Premature birth	1	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development	.		102
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			9
HP:0001197	HP:0001622	Premature birth	1	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		9
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			9
HP:0001197	HP:0001622	Premature birth	1	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		9
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness			27
HP:0001197	HP:0001622	Premature birth	1	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		27
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness			27
HP:0001197	HP:0001622	Premature birth	1	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		27
HP:0001197	HP:0034057	Fetal anomaly	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0001197	HP:0034057	Fetal anomaly	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A			38
HP:0001197	HP:0034057	Fetal anomaly	1	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability			6
HP:0001197	HP:0034057	Fetal anomaly	1	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			18
HP:0001197	HP:0001622	Premature birth	1	CNOT1 CL E G H	23019	7877	OMIM:619033	VISSERS-BODMER SYNDROME; VIBOS			2
HP:0001197	HP:0034057	Fetal anomaly	1	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north			40
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north			40
HP:0001197	HP:0034057	Fetal anomaly	1	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7			9
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7			9
HP:0001197	HP:0034057	Fetal anomaly	1	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG			79
HP:0001197	HP:0001622	Premature birth	1	COL11A1 CL E G H	1301	2186	ORPHA:440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	HP:0040282 - Frequent		215
HP:0001197	HP:0034057	Fetal anomaly	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0001197	HP:0034057	Fetal anomaly	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia			222
HP:0001197	HP:0034057	Fetal anomaly	1	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			65
HP:0001197	HP:0034057	Fetal anomaly	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0001197	HP:0001622	Premature birth	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		373
HP:0001197	HP:0001787	Abnormal delivery	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0001197	HP:0001787	Abnormal delivery	1	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1			373
HP:0001197	HP:0034057	Fetal anomaly	1	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA			373
HP:0001197	HP:0001622	Premature birth	1	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA	.		373
HP:0001197	HP:0001787	Abnormal delivery	1	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2			243
HP:0001197	HP:0034057	Fetal anomaly	1	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA			243
HP:0001197	HP:0001622	Premature birth	1	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA	.		243
HP:0001197	HP:0034057	Fetal anomaly	1	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita			3
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita			3
HP:0001197	HP:0001787	Abnormal delivery	1	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita			3
HP:0001197	HP:0034057	Fetal anomaly	1	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II			284
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II			284
HP:0001197	HP:0034057	Fetal anomaly	1	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type			284
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type			284
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type			284
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type			284
HP:0001197	HP:0001622	Premature birth	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0001197	HP:0001787	Abnormal delivery	1	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome			749
HP:0001197	HP:0001622	Premature birth	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040282 - Frequent		749
HP:0001197	HP:0001622	Premature birth	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		660
HP:0001197	HP:0001787	Abnormal delivery	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0001197	HP:0001622	Premature birth	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0001197	HP:0001787	Abnormal delivery	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0001197	HP:0001622	Premature birth	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		325
HP:0001197	HP:0001787	Abnormal delivery	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0001197	HP:0034057	Fetal anomaly	1	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1			442
HP:0001197	HP:0034057	Fetal anomaly	1	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			442
HP:0001197	HP:0034057	Fetal anomaly	1	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1			478
HP:0001197	HP:0034057	Fetal anomaly	1	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			478
HP:0001197	HP:0034057	Fetal anomaly	1	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1			702
HP:0001197	HP:0034057	Fetal anomaly	1	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			702
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0001197	HP:0001622	Premature birth	1	COPB2 CL E G H	9276	2232	OMIM:619884
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia			5
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	CORIN CL E G H	10699	19012	OMIM:614595	Preeclampsia/eclampsia 5			5
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10			4
HP:0001197	HP:0034057	Fetal anomaly	1	COX15 CL E G H	1355	2263	OMIM:615119	Mitochondrial complex IV deficiency, nuclear type 6			104
HP:0001197	HP:0034057	Fetal anomaly	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0001197	HP:0034057	Fetal anomaly	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0001197	HP:0034057	Fetal anomaly	1	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency	.		99
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CRB2 CL E G H	286204	18688	OMIM:219730	Ventriculomegaly with cystic kidney disease			12
HP:0001197	HP:0001622	Premature birth	1	CRB2 CL E G H	286204	18688	OMIM:219730	Ventriculomegaly with cystic kidney disease	HP:0040283 - Occasional		12
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0001197	HP:0001622	Premature birth	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040281 - Very frequent
HP:0001197	HP:0034057	Fetal anomaly	1	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0001197	HP:0001787	Abnormal delivery	1	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII			124
HP:0001197	HP:0034057	Fetal anomaly	1	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome			57
HP:0001197	HP:0034057	Fetal anomaly	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001197	HP:0034057	Fetal anomaly	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0001197	HP:0034057	Fetal anomaly	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0001197	HP:0034057	Fetal anomaly	1	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0001197	HP:0034057	Fetal anomaly	1	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001197	HP:0001622	Premature birth	1	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040282 - Frequent		31
HP:0001197	HP:0001787	Abnormal delivery	1	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency			31
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency			31
HP:0001197	HP:0001622	Premature birth	1	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040282 - Frequent		31
HP:0001197	HP:0001787	Abnormal delivery	1	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency			31
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency			31
HP:0001197	HP:0001787	Abnormal delivery	1	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I			112
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I			112
HP:0001197	HP:0001787	Abnormal delivery	1	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I			73
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I			73
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency			60
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0001197	HP:0034057	Fetal anomaly	1	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0034057	Fetal anomaly	1	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome			94
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001197	HP:0034057	Fetal anomaly	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001197	HP:0034057	Fetal anomaly	1	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001197	HP:0001787	Abnormal delivery	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001197	HP:0034057	Fetal anomaly	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0001197	HP:0034057	Fetal anomaly	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0001197	HP:0001622	Premature birth	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0001197	HP:0001787	Abnormal delivery	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0001197	HP:0034057	Fetal anomaly	1	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			47
HP:0001197	HP:0034057	Fetal anomaly	1	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0001197	HP:0001622	Premature birth	1	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment	HP:0040284 - Very rare
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome			164
HP:0001197	HP:0001622	Premature birth	1	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		22
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly			22
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001197	HP:0001622	Premature birth	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0001197	HP:0001622	Premature birth	1	DLK1 CL E G H	8788	2907	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0001197	HP:0001622	Premature birth	1	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		3
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly			3
HP:0001197	HP:0001622	Premature birth	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		9
HP:0001197	HP:0034057	Fetal anomaly	1	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0001197	HP:0001622	Premature birth	1	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0001197	HP:0034057	Fetal anomaly	1	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1			152
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1			152
HP:0001197	HP:0034057	Fetal anomaly	1	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome			41
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0001197	HP:0034057	Fetal anomaly	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0001197	HP:0034057	Fetal anomaly	1	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			72
HP:0001197	HP:0034057	Fetal anomaly	1	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0001197	HP:0034057	Fetal anomaly	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0001197	HP:0034057	Fetal anomaly	1	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5			167
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5			167
HP:0001197	HP:0034057	Fetal anomaly	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0001197	HP:0001622	Premature birth	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		18
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2			18
HP:0001197	HP:0034057	Fetal anomaly	1	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001197	HP:0034057	Fetal anomaly	1	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0001197	HP:0034057	Fetal anomaly	1	DOK7 CL E G H	285489	26594	OMIM:618389	FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3			91
HP:0001197	HP:0034057	Fetal anomaly	1	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial			91
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome			9
HP:0001197	HP:0034057	Fetal anomaly	1	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001197	HP:0034057	Fetal anomaly	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001197	HP:0034057	Fetal anomaly	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy			26
HP:0001197	HP:0034057	Fetal anomaly	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0001197	HP:0001787	Abnormal delivery	1	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0001197	HP:0001787	Abnormal delivery	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism			121
HP:0001197	HP:0031169	Postterm pregnancy	1	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism	HP:0040283 - Occasional		121
HP:0001197	HP:0034057	Fetal anomaly	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			304
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI
HP:0001197	HP:0034057	Fetal anomaly	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0001197	HP:0034057	Fetal anomaly	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	DYNC2I2 CL E G H	89891	28296	OMIM:615633	Short-Rib thoracic dysplasia 11 with or without polydactyly
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease			4
HP:0001197	HP:0034057	Fetal anomaly	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant			51
HP:0001197	HP:0034057	Fetal anomaly	1	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome			51
HP:0001197	HP:0001787	Abnormal delivery	1	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38			60
HP:0001197	HP:0034057	Fetal anomaly	1	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			60
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB			45
HP:0001197	HP:0034057	Fetal anomaly	1	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0001197	HP:0034057	Fetal anomaly	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0001197	HP:0034057	Fetal anomaly	1	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		172
HP:0001197	HP:0034057	Fetal anomaly	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0001197	HP:0034057	Fetal anomaly	1	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0001197	HP:0034057	Fetal anomaly	1	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1			151
HP:0001197	HP:0034057	Fetal anomaly	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0001197	HP:0034057	Fetal anomaly	1	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum			151
HP:0001197	HP:0001622	Premature birth	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		4
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0001197	HP:0034057	Fetal anomaly	1	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis			6
HP:0001197	HP:0034057	Fetal anomaly	1	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation			3
HP:0001197	HP:0034057	Fetal anomaly	1	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7			3
HP:0001197	HP:0034057	Fetal anomaly	1	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2			12
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2			12
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0001197	HP:0034057	Fetal anomaly	1	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3			83
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome			12
HP:0001197	HP:0034057	Fetal anomaly	1	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0001197	HP:0001787	Abnormal delivery	1	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome			92
HP:0001197	HP:0001622	Premature birth	1	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040282 - Frequent		92
HP:0001197	HP:0034057	Fetal anomaly	1	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome			102
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency			28
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency			60
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency			60
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency			32
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency			32
HP:0001197	HP:0001787	Abnormal delivery	1	F2 CL E G H	2147	3535	ORPHA:325	Congenital factor II deficiency			44
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	F2 CL E G H	2147	3535	OMIM:614390	Pregnancy loss, recurrent, susceptibility to, 2			44
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	F5 CL E G H	2153	3542	OMIM:614389	Pregnancy loss, recurrent, susceptibility to, 1			159
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	F5 CL E G H	2153	3542	OMIM:188055	Thrombophilia due to deficiency of activated protein C cofactor			159
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	F7 CL E G H	2155	3544	ORPHA:327	Congenital factor VII deficiency			70
HP:0001197	HP:0001787	Abnormal delivery	1	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A			303
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0001197	HP:0034057	Fetal anomaly	1	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0001197	HP:0034057	Fetal anomaly	1	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked			58
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked			58
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus			58
HP:0001197	HP:0034057	Fetal anomaly	1	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus			58
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus			58
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001197	HP:0034057	Fetal anomaly	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0001197	HP:0034057	Fetal anomaly	1	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome			59
HP:0001197	HP:0034057	Fetal anomaly	1	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome			37
HP:0001197	HP:0034057	Fetal anomaly	1	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA			63
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		1361
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0001197	HP:0001622	Premature birth	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0001197	HP:0034057	Fetal anomaly	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0001197	HP:0033334	Abnormal embryonic development	1	FBXO43 CL E G H	286151	28521	OMIM:619697	OOCYTE MATURATION DEFECT 12; OOMD12
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia			5
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia			5
HP:0001197	HP:0001622	Premature birth	1	FCSK CL E G H	197258	29500	OMIM:618324	Congenital disorder of glycosylation with defective fucosylation 2
HP:0001197	HP:0001622	Premature birth	1	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040283 - Occasional
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome			136
HP:0001197	HP:0034057	Fetal anomaly	1	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001197	HP:0034057	Fetal anomaly	1	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0001197	HP:0034057	Fetal anomaly	1	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral			2
HP:0001197	HP:0001622	Premature birth	1	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		17
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly			17
HP:0001197	HP:0001622	Premature birth	1	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		172
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly			172
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum			172
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0001197	HP:0001787	Abnormal delivery	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	FGFR3 CL E G H	2261	3690	OMIM:273300	Testicular tumor, somatic			145
HP:0001197	HP:0034057	Fetal anomaly	1	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1			145
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1			145
HP:0001197	HP:0034057	Fetal anomaly	1	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2			145
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2			145
HP:0001197	HP:0034057	Fetal anomaly	1	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0001197	HP:0001787	Abnormal delivery	1	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0001197	HP:0030917	Low APGAR score	1	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0001197	HP:0034057	Fetal anomaly	1	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II			145
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II			145
HP:0001197	HP:0034057	Fetal anomaly	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001197	HP:0034057	Fetal anomaly	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001197	HP:0034057	Fetal anomaly	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0001197	HP:0001622	Premature birth	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0001197	HP:0034057	Fetal anomaly	1	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0001197	HP:0034057	Fetal anomaly	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0001197	HP:0001622	Premature birth	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent		8
HP:0001197	HP:0034057	Fetal anomaly	1	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I			233
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III			233
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I			233
HP:0001197	HP:0001622	Premature birth	1	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.		233
HP:0001197	HP:0034057	Fetal anomaly	1	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia			233
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia			233
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia			11
HP:0001197	HP:0034057	Fetal anomaly	1	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1			90
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome			47
HP:0001197	HP:0001622	Premature birth	1	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	.		47
HP:0001197	HP:0034057	Fetal anomaly	1	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FOXE1 CL E G H	2304	3806	ORPHA:1226	Bamforth-Lazarus syndrome			9
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FOXE1 CL E G H	2304	3806	OMIM:241850	Hypothyroidism, athyroidal, with spiky hair and cleft palate			9
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		23
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001197	HP:0034057	Fetal anomaly	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0001197	HP:0034057	Fetal anomaly	1	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0001197	HP:0001622	Premature birth	1	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		48
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly			48
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0001197	HP:0034057	Fetal anomaly	1	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1			3
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence			3
HP:0001197	HP:0034057	Fetal anomaly	1	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0001197	HP:0001622	Premature birth	1	FZD4 CL E G H	8322	4042	ORPHA:90050	Retinopathy of prematurity	HP:0040281 - Very frequent		109
HP:0001197	HP:0034057	Fetal anomaly	1	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0001197	HP:0034057	Fetal anomaly	1	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0001197	HP:0034057	Fetal anomaly	1	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			4
HP:0001197	HP:0034057	Fetal anomaly	1	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0034057	Fetal anomaly	1	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			44
HP:0001197	HP:0034057	Fetal anomaly	1	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			139
HP:0001197	HP:0001622	Premature birth	1	GALK1 CL E G H	2584	4118	ORPHA:79237	Galactokinase deficiency	HP:0040284 - Very rare		23
HP:0001197	HP:0001622	Premature birth	1	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		2
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly			2
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0001197	HP:0034057	Fetal anomaly	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0001197	HP:0034057	Fetal anomaly	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		29
HP:0001197	HP:0034057	Fetal anomaly	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001197	HP:0034057	Fetal anomaly	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0001197	HP:0034057	Fetal anomaly	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0001197	HP:0034057	Fetal anomaly	1	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0001197	HP:0001622	Premature birth	1	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0001197	HP:0034057	Fetal anomaly	1	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42			1
HP:0001197	HP:0001622	Premature birth	1	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42			1
HP:0001197	HP:0034057	Fetal anomaly	1	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0001197	HP:0034057	Fetal anomaly	1	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0001197	HP:0034057	Fetal anomaly	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0001197	HP:0001622	Premature birth	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0001197	HP:0034057	Fetal anomaly	1	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV			86
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV			86
HP:0001197	HP:0034057	Fetal anomaly	1	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			128
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	GFRA1 CL E G H	2674	4243	OMIM:619887				1
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral			1
HP:0001197	HP:0034057	Fetal anomaly	1	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome			68
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans			199
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	GJB2 CL E G H	2706	4284	OMIM:124500	VOHWINKEL SYNDROME; VOWNKL			199
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0001197	HP:0034057	Fetal anomaly	1	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0001197	HP:0034057	Fetal anomaly	1	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0001197	HP:0001622	Premature birth	1	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II			120
HP:0001197	HP:0034057	Fetal anomaly	1	GLDN CL E G H	342035	29514	OMIM:617194	Lethal congenital contracture syndrome 11			6
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	GLDN CL E G H	342035	29514	OMIM:617194	Lethal congenital contracture syndrome 11			6
HP:0001197	HP:0034057	Fetal anomaly	1	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	GLE1 CL E G H	2733	4315	OMIM:253310	Lethal congenital contracture syndrome 1	.		45
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1			45
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1			45
HP:0001197	HP:0001622	Premature birth	1	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		173
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly			173
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0001197	HP:0034057	Fetal anomaly	1	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2			46
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14			34
HP:0001197	HP:0034057	Fetal anomaly	1	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14			34
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001197	HP:0034057	Fetal anomaly	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0001197	HP:0001787	Abnormal delivery	1	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			23
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0001197	HP:0001787	Abnormal delivery	1	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			8
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001197	HP:0034057	Fetal anomaly	1	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia			99
HP:0001197	HP:0034057	Fetal anomaly	1	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral
HP:0001197	HP:0034057	Fetal anomaly	1	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001197	HP:0034057	Fetal anomaly	1	GRIP1 CL E G H	23426	18708	OMIM:617667	Fraser syndrome 3			80
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0001197	HP:0034057	Fetal anomaly	1	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia			126
HP:0001197	HP:0034057	Fetal anomaly	1	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia			126
HP:0001197	HP:0034057	Fetal anomaly	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0001197	HP:0034057	Fetal anomaly	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0001197	HP:0034057	Fetal anomaly	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0001197	HP:0034057	Fetal anomaly	1	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7			54
HP:0001197	HP:0034057	Fetal anomaly	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0001197	HP:0034057	Fetal anomaly	1	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis			5
HP:0001197	HP:0034057	Fetal anomaly	1	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			4
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			4
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0001197	HP:0034057	Fetal anomaly	1	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0001197	HP:0001787	Abnormal delivery	1	HACD1 CL E G H	9200	9639	OMIM:619967				2
HP:0001197	HP:0034057	Fetal anomaly	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0001197	HP:0034057	Fetal anomaly	1	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency	.		99
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency	.		99
HP:0001197	HP:0034057	Fetal anomaly	1	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency	.		60
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency	.		60
HP:0001197	HP:0034057	Fetal anomaly	1	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis			200
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis			200
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis			200
HP:0001197	HP:0034057	Fetal anomaly	1	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis			88
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis			88
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis			88
HP:0001197	HP:0001622	Premature birth	1	HBB CL E G H	3043	4827	ORPHA:2133	Hemoglobin E disease	HP:0040283 - Occasional		580
HP:0001197	HP:0034057	Fetal anomaly	1	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			54
HP:0001197	HP:0034057	Fetal anomaly	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0001197	HP:0001622	Premature birth	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		37
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome
HP:0001197	HP:0034057	Fetal anomaly	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0001197	HP:0001787	Abnormal delivery	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0001197	HP:0030917	Low APGAR score	1	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum			21
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0001197	HP:0034057	Fetal anomaly	1	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency			148
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency			161
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome			90
HP:0001197	HP:0034057	Fetal anomaly	1	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome			8
HP:0001197	HP:0034057	Fetal anomaly	1	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0001197	HP:0034057	Fetal anomaly	1	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association			25
HP:0001197	HP:0034057	Fetal anomaly	1	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association			25
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association			25
HP:0001197	HP:0001622	Premature birth	1	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040281 - Very frequent		25
HP:0001197	HP:0034057	Fetal anomaly	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0001197	HP:0001622	Premature birth	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0001197	HP:0034057	Fetal anomaly	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0001197	HP:0034057	Fetal anomaly	1	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0001197	HP:0034057	Fetal anomaly	1	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0001197	HP:0034057	Fetal anomaly	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	HTR1A CL E G H	3350	5286	OMIM:614674	Periodic fever, menstrual cycle-dependent			2
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus			31
HP:0001197	HP:0001622	Premature birth	1	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus	HP:0040281 - Very frequent		31
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome
HP:0001197	HP:0001787	Abnormal delivery	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3			16
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0001197	HP:0034057	Fetal anomaly	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			65
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0001197	HP:0034057	Fetal anomaly	1	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			9
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			9
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0001197	HP:0034057	Fetal anomaly	1	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0001197	HP:0001622	Premature birth	1	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.		209
HP:0001197	HP:0034057	Fetal anomaly	1	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13			8
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13			8
HP:0001197	HP:0034057	Fetal anomaly	1	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0001197	HP:0034057	Fetal anomaly	1	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0001197	HP:0034057	Fetal anomaly	1	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome			48
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0001197	HP:0034057	Fetal anomaly	1	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome			94
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA			18
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia			18
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2			106
HP:0001197	HP:0034057	Fetal anomaly	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001197	HP:0034057	Fetal anomaly	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001787	Abnormal delivery	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0030917	Low APGAR score	1	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0034057	Fetal anomaly	1	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip			99
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip			99
HP:0001197	HP:0001787	Abnormal delivery	1	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			119
HP:0001197	HP:0001787	Abnormal delivery	1	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			69
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia			79
HP:0001197	HP:0034057	Fetal anomaly	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral			4
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1			4
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I			114
HP:0001197	HP:0001787	Abnormal delivery	1	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia			80
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			124
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			124
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia			124
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair			1
HP:0001197	HP:0034057	Fetal anomaly	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0001197	HP:0034057	Fetal anomaly	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome			141
HP:0001197	HP:0034057	Fetal anomaly	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0001197	HP:0001787	Abnormal delivery	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0001197	HP:0034057	Fetal anomaly	1	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0001197	HP:0034057	Fetal anomaly	1	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			65
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2			51
HP:0001197	HP:0001622	Premature birth	1	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.		51
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency			127
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3			127
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	KCNJ11 CL E G H	3767	6257	OMIM:616329	Maturity-onset diabetes of the young, type 13			127
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus			127
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome			3
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0001197	HP:0034057	Fetal anomaly	1	KCNQ5 CL E G H	56479	6299	OMIM:617601	Mental retardation, autosomal dominant 46			5
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0001197	HP:0001787	Abnormal delivery	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	KHDC3L CL E G H	154288	33699	OMIM:614293	HYDATIDIFORM MOLE, RECURRENT, 2; HYDM2			5
HP:0001197	HP:0034057	Fetal anomaly	1	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly			24
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly			24
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome			4
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12			9
HP:0001197	HP:0034057	Fetal anomaly	1	KIF20A CL E G H	10112	9787	OMIM:619433	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0001197	HP:0034057	Fetal anomaly	1	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus			167
HP:0001197	HP:0001622	Premature birth	1	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus	HP:0040281 - Very frequent		167
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	KIT CL E G H	3815	6342	OMIM:273300	Testicular tumor, somatic			327
HP:0001197	HP:0034057	Fetal anomaly	1	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0001197	HP:0034057	Fetal anomaly	1	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8			28
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8			28
HP:0001197	HP:0034057	Fetal anomaly	1	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy			28
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy			28
HP:0001197	HP:0001622	Premature birth	1	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		28
HP:0001197	HP:0001787	Abnormal delivery	1	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy			28
HP:0001197	HP:0034057	Fetal anomaly	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0001197	HP:0001787	Abnormal delivery	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0001197	HP:0034057	Fetal anomaly	1	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy			13
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy			13
HP:0001197	HP:0001622	Premature birth	1	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional		13
HP:0001197	HP:0034057	Fetal anomaly	1	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9			13
HP:0001197	HP:0001787	Abnormal delivery	1	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9			13
HP:0001197	HP:0034057	Fetal anomaly	1	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy			13
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy			13
HP:0001197	HP:0001622	Premature birth	1	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		13
HP:0001197	HP:0001787	Abnormal delivery	1	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy			13
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy			13
HP:0001197	HP:0001622	Premature birth	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		196
HP:0001197	HP:0034057	Fetal anomaly	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome			196
HP:0001197	HP:0001622	Premature birth	1	LAGE3 CL E G H	8270	26058	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0001197	HP:0034057	Fetal anomaly	1	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia			54
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0001197	HP:0034057	Fetal anomaly	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia			70
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0001197	HP:0001787	Abnormal delivery	1	LDHA CL E G H	3939	6535	ORPHA:284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	HP:0040282 - Frequent		35
HP:0001197	HP:0001787	Abnormal delivery	1	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0001197	HP:0034057	Fetal anomaly	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001197	HP:0034057	Fetal anomaly	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0001197	HP:0034057	Fetal anomaly	1	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect			6
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome			144
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0001197	HP:0034057	Fetal anomaly	1	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome			88
HP:0001197	HP:0034057	Fetal anomaly	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0001197	HP:0034057	Fetal anomaly	1	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation			645
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type			645
HP:0001197	HP:0034057	Fetal anomaly	1	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related			645
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0001197	HP:0034057	Fetal anomaly	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0001197	HP:0001622	Premature birth	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		645
HP:0001197	HP:0034057	Fetal anomaly	1	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2			645
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	LMOD1 CL E G H	25802	6647	OMIM:619362	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0001197	HP:0034057	Fetal anomaly	1	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10			11
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10			11
HP:0001197	HP:0001622	Premature birth	1	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10	.		11
HP:0001197	HP:0034057	Fetal anomaly	1	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy			11
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy			11
HP:0001197	HP:0001622	Premature birth	1	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		11
HP:0001197	HP:0001787	Abnormal delivery	1	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy			11
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy			11
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0001197	HP:0030917	Low APGAR score	1	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent		8
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		6
HP:0001197	HP:0001622	Premature birth	1	LRP5 CL E G H	4041	6697	ORPHA:90050	Retinopathy of prematurity	HP:0040281 - Very frequent		125
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3			12
HP:0001197	HP:0034057	Fetal anomaly	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0001197	HP:0034057	Fetal anomaly	1	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0001197	HP:0034057	Fetal anomaly	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy			63
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MAGED2 CL E G H	10916	16353	OMIM:300971	Bartter syndrome, type 5, antenatal, transient			6
HP:0001197	HP:0001622	Premature birth	1	MAGED2 CL E G H	10916	16353	OMIM:300971	Bartter syndrome, type 5, antenatal, transient	.		6
HP:0001197	HP:0034057	Fetal anomaly	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0001197	HP:0034057	Fetal anomaly	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0001197	HP:0001787	Abnormal delivery	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0001197	HP:0030917	Low APGAR score	1	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0001197	HP:0034057	Fetal anomaly	1	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			63
HP:0001197	HP:0034057	Fetal anomaly	1	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0001197	HP:0031169	Postterm pregnancy	1	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		63
HP:0001197	HP:0034057	Fetal anomaly	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0001197	HP:0031169	Postterm pregnancy	1	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		63
HP:0001197	HP:0034057	Fetal anomaly	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0001197	HP:0031169	Postterm pregnancy	1	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		63
HP:0001197	HP:0034057	Fetal anomaly	1	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome			5
HP:0001197	HP:0001622	Premature birth	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		134
HP:0001197	HP:0001622	Premature birth	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040282 - Frequent		178
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0001197	HP:0034057	Fetal anomaly	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0001197	HP:0034057	Fetal anomaly	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0001197	HP:0001622	Premature birth	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040281 - Very frequent		2
HP:0001197	HP:0034057	Fetal anomaly	1	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia			140
HP:0001197	HP:0034057	Fetal anomaly	1	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia			140
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		13
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome			22
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0001197	HP:0034057	Fetal anomaly	1	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001197	HP:0001787	Abnormal delivery	1	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54			69
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0001197	HP:0034057	Fetal anomaly	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0001197	HP:0030917	Low APGAR score	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0001197	HP:0034057	Fetal anomaly	1	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome			1
HP:0001197	HP:0034057	Fetal anomaly	1	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2			4
HP:0001197	HP:0001622	Premature birth	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent		228
HP:0001197	HP:0001787	Abnormal delivery	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001197	HP:0001622	Premature birth	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0001197	HP:0001622	Premature birth	1	MEG3 CL E G H	55384	14575	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent		1
HP:0001197	HP:0034057	Fetal anomaly	1	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset			158
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	MEI1 CL E G H	150365	28613	OMIM:618431	Hydatidiform mole, recurrent, 3
HP:0001197	HP:0034057	Fetal anomaly	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		11
HP:0001197	HP:0034057	Fetal anomaly	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0001197	HP:0034057	Fetal anomaly	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0001197	HP:0001787	Abnormal delivery	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0001197	HP:0030917	Low APGAR score	1	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0001197	HP:0034057	Fetal anomaly	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001787	Abnormal delivery	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0030917	Low APGAR score	1	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome			127
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0001197	HP:0034057	Fetal anomaly	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0001197	HP:0001787	Abnormal delivery	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0001197	HP:0034057	Fetal anomaly	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0001197	HP:0034057	Fetal anomaly	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	MME CL E G H	4311	7154	ORPHA:69063	Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization			18
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0001197	HP:0034057	Fetal anomaly	1	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2			134
HP:0001197	HP:0034057	Fetal anomaly	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0001197	HP:0034057	Fetal anomaly	1	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2			60
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5	.		25
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip			12
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip			12
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly			183
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly			183
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly			183
HP:0001197	HP:0034057	Fetal anomaly	1	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0001197	HP:0001622	Premature birth	1	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0001197	HP:0001787	Abnormal delivery	1	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0001197	HP:0030917	Low APGAR score	1	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0001197	HP:0034057	Fetal anomaly	1	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy			185
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy			185
HP:0001197	HP:0001622	Premature birth	1	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy			185
HP:0001197	HP:0030917	Low APGAR score	1	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy			185
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome			185
HP:0001197	HP:0034057	Fetal anomaly	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0001197	HP:0034057	Fetal anomaly	1	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0001197	HP:0034057	Fetal anomaly	1	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0001197	HP:0001622	Premature birth	1	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.		72
HP:0001197	HP:0034057	Fetal anomaly	1	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D			9
HP:0001197	HP:0034057	Fetal anomaly	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		418
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome			418
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2			418
HP:0001197	HP:0034057	Fetal anomaly	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0001197	HP:0001787	Abnormal delivery	1	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0001197	HP:0034057	Fetal anomaly	1	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0001197	HP:0034057	Fetal anomaly	1	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0001197	HP:0001622	Premature birth	1	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve	HP:0040281 - Very frequent		1269
HP:0001197	HP:0034057	Fetal anomaly	1	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1269
HP:0001197	HP:0034057	Fetal anomaly	1	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0001197	HP:0034057	Fetal anomaly	1	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0001197	HP:0034057	Fetal anomaly	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0001197	HP:0034057	Fetal anomaly	1	MYL9 CL E G H	10398	15754	OMIM:619365	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MYL9 CL E G H	10398	15754	OMIM:619365	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		326
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome			326
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MYLK CL E G H	4638	7590	OMIM:249210	MOVED TO 155310			326
HP:0001197	HP:0034057	Fetal anomaly	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome			5
HP:0001197	HP:0034057	Fetal anomaly	1	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0001197	HP:0034057	Fetal anomaly	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0001197	HP:0034057	Fetal anomaly	1	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0001197	HP:0034057	Fetal anomaly	1	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0001197	HP:0034057	Fetal anomaly	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0001197	HP:0001787	Abnormal delivery	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0001197	HP:0034057	Fetal anomaly	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001197	HP:0034057	Fetal anomaly	1	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0001197	HP:0034057	Fetal anomaly	1	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0001197	HP:0034057	Fetal anomaly	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0001197	HP:0034057	Fetal anomaly	1	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0001197	HP:0034057	Fetal anomaly	1	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0001197	HP:0034057	Fetal anomaly	1	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0001197	HP:0034057	Fetal anomaly	1	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation
HP:0001197	HP:0034057	Fetal anomaly	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0001197	HP:0031169	Postterm pregnancy	1	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent
HP:0001197	HP:0034057	Fetal anomaly	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0001197	HP:0031169	Postterm pregnancy	1	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional
HP:0001197	HP:0034057	Fetal anomaly	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0001197	HP:0031169	Postterm pregnancy	1	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional
HP:0001197	HP:0001622	Premature birth	1	NDP CL E G H	4693	7678	ORPHA:90050	Retinopathy of prematurity	HP:0040281 - Very frequent		39
HP:0001197	HP:0034057	Fetal anomaly	1	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0001197	HP:0034057	Fetal anomaly	1	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0001197	HP:0034057	Fetal anomaly	1	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0001197	HP:0034057	Fetal anomaly	1	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0001197	HP:0034057	Fetal anomaly	1	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0001197	HP:0034057	Fetal anomaly	1	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0001197	HP:0034057	Fetal anomaly	1	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0001197	HP:0034057	Fetal anomaly	1	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0001197	HP:0034057	Fetal anomaly	1	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0001197	HP:0034057	Fetal anomaly	1	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0001197	HP:0034057	Fetal anomaly	1	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0001197	HP:0034057	Fetal anomaly	1	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0001197	HP:0001622	Premature birth	1	NDUFB11 CL E G H	54539	20372	OMIM:301021	Mitochondrial complex I deficiency, nuclear type 30	.		3
HP:0001197	HP:0034057	Fetal anomaly	1	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0001197	HP:0001622	Premature birth	1	NDUFB3 CL E G H	4709	7698	OMIM:618246	Mitochondrial complex I deficiency, nuclear type 25	.		9
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001197	HP:0034057	Fetal anomaly	1	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0001197	HP:0034057	Fetal anomaly	1	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0001197	HP:0034057	Fetal anomaly	1	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0001197	HP:0034057	Fetal anomaly	1	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0001197	HP:0034057	Fetal anomaly	1	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0001197	HP:0034057	Fetal anomaly	1	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0001197	HP:0034057	Fetal anomaly	1	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0001197	HP:0034057	Fetal anomaly	1	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0001197	HP:0034057	Fetal anomaly	1	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0001197	HP:0034057	Fetal anomaly	1	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0001197	HP:0034057	Fetal anomaly	1	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6			745
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6			745
HP:0001197	HP:0034057	Fetal anomaly	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0001197	HP:0001787	Abnormal delivery	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0001197	HP:0034057	Fetal anomaly	1	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy			745
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy			745
HP:0001197	HP:0001622	Premature birth	1	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional		745
HP:0001197	HP:0034057	Fetal anomaly	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0001197	HP:0034057	Fetal anomaly	1	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy			745
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy			745
HP:0001197	HP:0001622	Premature birth	1	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040283 - Occasional		745
HP:0001197	HP:0001787	Abnormal delivery	1	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy			745
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy			745
HP:0001197	HP:0034057	Fetal anomaly	1	NECAP1 CL E G H	25977	24539	OMIM:615833	Epileptic encephalopathy, early infantile, 21			1
HP:0001197	HP:0034057	Fetal anomaly	1	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip			4
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip			4
HP:0001197	HP:0034057	Fetal anomaly	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2			43
HP:0001197	HP:0034057	Fetal anomaly	1	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0001197	HP:0034057	Fetal anomaly	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0001197	HP:0034057	Fetal anomaly	1	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0001197	HP:0034057	Fetal anomaly	1	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0001197	HP:0034057	Fetal anomaly	1	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0001197	HP:0034057	Fetal anomaly	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0001197	HP:0001622	Premature birth	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		494
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome			90
HP:0001197	HP:0001622	Premature birth	1	NLRP3 CL E G H	114548	16400	ORPHA:1451	CINCA syndrome	HP:0040283 - Occasional		217
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	NLRP7 CL E G H	199713	22947	OMIM:231090	Hydatidiform mole, recurrent, 1			171
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0001197	HP:0001622	Premature birth	1	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		45
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly			45
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	NOS3 CL E G H	4846	7876	OMIM:189800	Preeclampsia/eclampsia 1			8
HP:0001197	HP:0001622	Premature birth	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		452
HP:0001197	HP:0034057	Fetal anomaly	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0001197	HP:0001787	Abnormal delivery	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0001197	HP:0030917	Low APGAR score	1	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0001197	HP:0034057	Fetal anomaly	1	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1			258
HP:0001197	HP:0034057	Fetal anomaly	1	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2			33
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2			33
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome			157
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0001197	HP:0034057	Fetal anomaly	1	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5			14
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy			14
HP:0001197	HP:0001622	Premature birth	1	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040284 - Very rare		14
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy			14
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	NR3C2 CL E G H	4306	7979	OMIM:605115	Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy			109
HP:0001197	HP:0034057	Fetal anomaly	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0001197	HP:0034057	Fetal anomaly	1	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0001197	HP:0034057	Fetal anomaly	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0001197	HP:0034057	Fetal anomaly	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0001197	HP:0034057	Fetal anomaly	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0001197	HP:0034057	Fetal anomaly	1	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0001197	HP:0034057	Fetal anomaly	1	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			8
HP:0001197	HP:0034057	Fetal anomaly	1	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0001197	HP:0001622	Premature birth	1	NUP107 CL E G H	57122	29914	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent		5
HP:0001197	HP:0001622	Premature birth	1	NUP133 CL E G H	55746	18016	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent		1
HP:0001197	HP:0034057	Fetal anomaly	1	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0001197	HP:0034057	Fetal anomaly	1	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0001197	HP:0034057	Fetal anomaly	1	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4
HP:0001197	HP:0034057	Fetal anomaly	1	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001197	HP:0034057	Fetal anomaly	1	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0001197	HP:0031169	Postterm pregnancy	1	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		121
HP:0001197	HP:0034057	Fetal anomaly	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0001197	HP:0031169	Postterm pregnancy	1	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		121
HP:0001197	HP:0034057	Fetal anomaly	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0001197	HP:0031169	Postterm pregnancy	1	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		121
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0001197	HP:0034057	Fetal anomaly	1	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0001197	HP:0034057	Fetal anomaly	1	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0001197	HP:0034057	Fetal anomaly	1	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0001197	HP:0001787	Abnormal delivery	1	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14			214
HP:0001197	HP:0001787	Abnormal delivery	1	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1			53
HP:0001197	HP:0001622	Premature birth	1	OSGEP CL E G H	55644	18028	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3
HP:0001197	HP:0034057	Fetal anomaly	1	OSTM1 CL E G H	28962	21652	ORPHA:85179	Infantile osteopetrosis with neuroaxonal dysplasia			73
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			41
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum			41
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0001197	HP:0034057	Fetal anomaly	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0001197	HP:0034057	Fetal anomaly	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0001197	HP:0032479	Preimplantation lethality	1	PADI6 CL E G H	353238	20449	OMIM:617234	Preimplantation embryonic lethality 2			5
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation			231
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome			231
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PAICS CL E G H	10606	8587	OMIM:619859
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0001197	HP:0034057	Fetal anomaly	1	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0001197	HP:0034057	Fetal anomaly	1	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			14
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0001197	HP:0001622	Premature birth	1	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0001197	HP:0034057	Fetal anomaly	1	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	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:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0001197	HP:0001622	Premature birth	1	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0001197	HP:0030917	Low APGAR score	1	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent		88
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital			30
HP:0001197	HP:0001787	Abnormal delivery	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0001197	HP:0034057	Fetal anomaly	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0001197	HP:0001622	Premature birth	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		169
HP:0001197	HP:0034057	Fetal anomaly	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0001197	HP:0001622	Premature birth	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		75
HP:0001197	HP:0034057	Fetal anomaly	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0001197	HP:0001622	Premature birth	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		4
HP:0001197	HP:0034057	Fetal anomaly	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0001197	HP:0001622	Premature birth	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		65
HP:0001197	HP:0034057	Fetal anomaly	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0001197	HP:0001622	Premature birth	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		66
HP:0001197	HP:0034057	Fetal anomaly	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0001197	HP:0001622	Premature birth	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		46
HP:0001197	HP:0034057	Fetal anomaly	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0001197	HP:0001622	Premature birth	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		59
HP:0001197	HP:0034057	Fetal anomaly	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0001197	HP:0034057	Fetal anomaly	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0001197	HP:0001622	Premature birth	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		62
HP:0001197	HP:0034057	Fetal anomaly	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0001197	HP:0001622	Premature birth	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		82
HP:0001197	HP:0034057	Fetal anomaly	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0001197	HP:0001622	Premature birth	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		106
HP:0001197	HP:0034057	Fetal anomaly	1	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)			47
HP:0001197	HP:0034057	Fetal anomaly	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0001197	HP:0001622	Premature birth	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		47
HP:0001197	HP:0034057	Fetal anomaly	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0001197	HP:0001622	Premature birth	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		99
HP:0001197	HP:0034057	Fetal anomaly	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0001197	HP:0001622	Premature birth	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040282 - Frequent		98
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0001197	HP:0034057	Fetal anomaly	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0001197	HP:0034057	Fetal anomaly	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0001197	HP:0034057	Fetal anomaly	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0001197	HP:0034057	Fetal anomaly	1	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome			86
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome			86
HP:0001197	HP:0034057	Fetal anomaly	1	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0001197	HP:0034057	Fetal anomaly	1	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis			11
HP:0001197	HP:0034057	Fetal anomaly	1	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0001197	HP:0034057	Fetal anomaly	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0001197	HP:0001787	Abnormal delivery	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0001197	HP:0034057	Fetal anomaly	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0001197	HP:0034057	Fetal anomaly	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0001197	HP:0034057	Fetal anomaly	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0001197	HP:0034057	Fetal anomaly	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0001197	HP:0034057	Fetal anomaly	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0001197	HP:0034057	Fetal anomaly	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0001197	HP:0034057	Fetal anomaly	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0001197	HP:0034057	Fetal anomaly	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0001197	HP:0034057	Fetal anomaly	1	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0001197	HP:0034057	Fetal anomaly	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease			563
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease			563
HP:0001197	HP:0034057	Fetal anomaly	1	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency			51
HP:0001197	HP:0034057	Fetal anomaly	1	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus
HP:0001197	HP:0034057	Fetal anomaly	1	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia			759
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia			759
HP:0001197	HP:0034057	Fetal anomaly	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0001197	HP:0001787	Abnormal delivery	1	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0001197	HP:0034057	Fetal anomaly	1	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0001197	HP:0034057	Fetal anomaly	1	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy			6
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy			6
HP:0001197	HP:0030917	Low APGAR score	1	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent		6
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0001197	HP:0034057	Fetal anomaly	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.		150
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040282 - Frequent		92
HP:0001197	HP:0001622	Premature birth	1	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040282 - Frequent		92
HP:0001197	HP:0030917	Low APGAR score	1	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040282 - Frequent		92
HP:0001197	HP:0001622	Premature birth	1	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency	.		92
HP:0001197	HP:0034057	Fetal anomaly	1	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0001197	HP:0001787	Abnormal delivery	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	POMP CL E G H	51371	20330	OMIM:601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma			2
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.		76
HP:0001197	HP:0034057	Fetal anomaly	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3			42
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0001197	HP:0034057	Fetal anomaly	1	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0001197	HP:0034057	Fetal anomaly	1	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH			2
HP:0001197	HP:0034057	Fetal anomaly	1	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome			7
HP:0001197	HP:0034057	Fetal anomaly	1	PREPL CL E G H	9581	30228	ORPHA:163690	Hypotonia-cystinuria syndrome			7
HP:0001197	HP:0034057	Fetal anomaly	1	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome			10
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		41
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum			34
HP:0001197	HP:0030917	Low APGAR score	1	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			4
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex			4
HP:0001197	HP:0034057	Fetal anomaly	1	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies			8
HP:0001197	HP:0034057	Fetal anomaly	1	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2			27
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2			27
HP:0001197	HP:0034057	Fetal anomaly	1	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form			27
HP:0001197	HP:0034057	Fetal anomaly	1	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia			241
HP:0001197	HP:0034057	Fetal anomaly	1	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia			241
HP:0001197	HP:0001787	Abnormal delivery	1	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0001197	HP:0001622	Premature birth	1	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		665
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly			665
HP:0001197	HP:0034057	Fetal anomaly	1	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia			58
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia			58
HP:0001197	HP:0001622	Premature birth	1	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040281 - Very frequent		58
HP:0001197	HP:0034057	Fetal anomaly	1	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type			58
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type			58
HP:0001197	HP:0001622	Premature birth	1	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type	.		58
HP:0001197	HP:0034057	Fetal anomaly	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0001197	HP:0001787	Abnormal delivery	1	PTPN23 CL E G H	25930	14406	OMIM:618890	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS			3
HP:0001197	HP:0034057	Fetal anomaly	1	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0001197	HP:0034057	Fetal anomaly	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001787	Abnormal delivery	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0030917	Low APGAR score	1	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0034057	Fetal anomaly	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001787	Abnormal delivery	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0030917	Low APGAR score	1	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0001197	HP:0034057	Fetal anomaly	1	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0001197	HP:0034057	Fetal anomaly	1	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0001197	HP:0001622	Premature birth	1	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0001197	HP:0034057	Fetal anomaly	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME			9
HP:0001197	HP:0034057	Fetal anomaly	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0001197	HP:0001622	Premature birth	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		25
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0001197	HP:0034057	Fetal anomaly	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0001197	HP:0034057	Fetal anomaly	1	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome			127
HP:0001197	HP:0034057	Fetal anomaly	1	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome			50
HP:0001197	HP:0034057	Fetal anomaly	1	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0001197	HP:0001622	Premature birth	1	RALGAPA1 CL E G H	253959	17770	OMIM:618797	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION; NEDHRIT			1
HP:0001197	HP:0034057	Fetal anomaly	1	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0001197	HP:0034057	Fetal anomaly	1	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2			73
HP:0001197	HP:0034057	Fetal anomaly	1	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency			73
HP:0001197	HP:0034057	Fetal anomaly	1	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation			88
HP:0001197	HP:0034057	Fetal anomaly	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0001197	HP:0034057	Fetal anomaly	1	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0001197	HP:0001622	Premature birth	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040283 - Occasional		3
HP:0001197	HP:0033334	Abnormal embryonic development	1	REC114 CL E G H	283677	25065	OMIM:619176	OOCYTE MATURATION DEFECT 10; OOMD10
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis			25
HP:0001197	HP:0034057	Fetal anomaly	1	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome			572
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome			572
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral			572
HP:0001197	HP:0034057	Fetal anomaly	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome			13
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome			8
HP:0001197	HP:0034057	Fetal anomaly	1	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced			16
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced			16
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome			16
HP:0001197	HP:0034057	Fetal anomaly	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0001197	HP:0034057	Fetal anomaly	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0001197	HP:0001787	Abnormal delivery	1	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia			37
HP:0001197	HP:0034057	Fetal anomaly	1	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome			37
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0001197	HP:0034057	Fetal anomaly	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0001197	HP:0001622	Premature birth	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040281 - Very frequent		15
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0001197	HP:0001787	Abnormal delivery	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0001197	HP:0001622	Premature birth	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome	.		15
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome			109
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome			167
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0001197	HP:0001622	Premature birth	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0001197	HP:0034057	Fetal anomaly	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001197	HP:0034057	Fetal anomaly	1	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0001197	HP:0034057	Fetal anomaly	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001197	HP:0034057	Fetal anomaly	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001197	HP:0034057	Fetal anomaly	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001197	HP:0034057	Fetal anomaly	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001197	HP:0034057	Fetal anomaly	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001197	HP:0034057	Fetal anomaly	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001197	HP:0034057	Fetal anomaly	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0001197	HP:0034057	Fetal anomaly	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0001197	HP:0034057	Fetal anomaly	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0001197	HP:0034057	Fetal anomaly	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001197	HP:0034057	Fetal anomaly	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0001197	HP:0034057	Fetal anomaly	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0001197	HP:0001622	Premature birth	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1	.		42
HP:0001197	HP:0034057	Fetal anomaly	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001197	HP:0034057	Fetal anomaly	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001197	HP:0034057	Fetal anomaly	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001197	HP:0034057	Fetal anomaly	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001197	HP:0034057	Fetal anomaly	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001197	HP:0034057	Fetal anomaly	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001197	HP:0034057	Fetal anomaly	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001197	HP:0034057	Fetal anomaly	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0001197	HP:0034057	Fetal anomaly	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0001197	HP:0001622	Premature birth	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0001197	HP:0001622	Premature birth	1	RTL1 CL E G H	388015	14665	ORPHA:96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	HP:0040282 - Frequent
HP:0001197	HP:0034057	Fetal anomaly	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0001197	HP:0034057	Fetal anomaly	1	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease			1200
HP:0001197	HP:0034057	Fetal anomaly	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia			1200
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia			1200
HP:0001197	HP:0034057	Fetal anomaly	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0001197	HP:0001787	Abnormal delivery	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0001197	HP:0034057	Fetal anomaly	1	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0001197	HP:0034057	Fetal anomaly	1	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1200
HP:0001197	HP:0001622	Premature birth	1	SARS2 CL E G H	54938	17697	OMIM:613845	Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome	.		60
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001197	HP:0001622	Premature birth	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001197	HP:0001787	Abnormal delivery	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0001197	HP:0034057	Fetal anomaly	1	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0001197	HP:0034057	Fetal anomaly	1	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			70
HP:0001197	HP:0034057	Fetal anomaly	1	SCN5A CL E G H	6331	10593	OMIM:603830	Long QT syndrome 3			1134
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia			357
HP:0001197	HP:0034057	Fetal anomaly	1	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			357
HP:0001197	HP:0034057	Fetal anomaly	1	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0001197	HP:0034057	Fetal anomaly	1	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0001197	HP:0001787	Abnormal delivery	1	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2			5
HP:0001197	HP:0034057	Fetal anomaly	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0001197	HP:0034057	Fetal anomaly	1	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			144
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency			88
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency			39
HP:0001197	HP:0001622	Premature birth	1	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency	HP:0040282 - Frequent		39
HP:0001197	HP:0001787	Abnormal delivery	1	SERPINH1 CL E G H	871	1546	OMIM:610504	Preterm premature rupture of the membranes			52
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0001197	HP:0001622	Premature birth	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.		49
HP:0001197	HP:0001622	Premature birth	1	SFTPB CL E G H	6439	10801	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040282 - Frequent		51
HP:0001197	HP:0001622	Premature birth	1	SFTPC CL E G H	6440	10802	ORPHA:70587	Infant acute respiratory distress syndrome	HP:0040282 - Frequent		33
HP:0001197	HP:0001622	Premature birth	1	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		67
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly			67
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0001197	HP:0001787	Abnormal delivery	1	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency			2
HP:0001197	HP:0034057	Fetal anomaly	1	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0001197	HP:0001622	Premature birth	1	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		32
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly			32
HP:0001197	HP:0001622	Premature birth	1	SKIC2 CL E G H	6499	10898	OMIM:614602	Trichohepatoenteric syndrome 2
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal			75
HP:0001197	HP:0001622	Premature birth	1	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.		75
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0001197	HP:0034057	Fetal anomaly	1	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			73
HP:0001197	HP:0034057	Fetal anomaly	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0001197	HP:0001622	Premature birth	1	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040284 - Very rare		57
HP:0001197	HP:0034057	Fetal anomaly	1	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease			78
HP:0001197	HP:0001622	Premature birth	1	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease	.		78
HP:0001197	HP:0034057	Fetal anomaly	1	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0001197	HP:0034057	Fetal anomaly	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001197	HP:0034057	Fetal anomaly	1	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001197	HP:0034057	Fetal anomaly	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0001197	HP:0034057	Fetal anomaly	1	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly			36
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency			40
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001197	HP:0034057	Fetal anomaly	1	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28			5
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28			5
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E			14
HP:0001197	HP:0034057	Fetal anomaly	1	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B			166
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B			166
HP:0001197	HP:0034057	Fetal anomaly	1	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB			166
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB			166
HP:0001197	HP:0001787	Abnormal delivery	1	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB			166
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II			166
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital			89
HP:0001197	HP:0001622	Premature birth	1	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital	.		89
HP:0001197	HP:0034057	Fetal anomaly	1	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS			26
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS			26
HP:0001197	HP:0001622	Premature birth	1	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS			26
HP:0001197	HP:0034057	Fetal anomaly	1	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome			26
HP:0001197	HP:0001622	Premature birth	1	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome	HP:0040281 - Very frequent		26
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0001197	HP:0034057	Fetal anomaly	1	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0001197	HP:0034057	Fetal anomaly	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040283 - Occasional		27
HP:0001197	HP:0034057	Fetal anomaly	1	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia			9
HP:0001197	HP:0034057	Fetal anomaly	1	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0034057	Fetal anomaly	1	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome			55
HP:0001197	HP:0034057	Fetal anomaly	1	SLC3A1 CL E G H	6519	11025	ORPHA:163690	Hypotonia-cystinuria syndrome			55
HP:0001197	HP:0034057	Fetal anomaly	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3			81
HP:0001197	HP:0001787	Abnormal delivery	1	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3			81
HP:0001197	HP:0034057	Fetal anomaly	1	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SLC9A3 CL E G H	6550	11073	OMIM:616868	Diarrhea 8, secretory sodium, congenital			7
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		7
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		260
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		504
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome			6
HP:0001197	HP:0001622	Premature birth	1	SMARCAL1 CL E G H	50485	11102	ORPHA:1830	Schimke immuno-osseous dysplasia	HP:0040282 - Frequent		74
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0001197	HP:0034057	Fetal anomaly	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0001197	HP:0001622	Premature birth	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		135
HP:0001197	HP:0034057	Fetal anomaly	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0001197	HP:0001622	Premature birth	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040282 - Frequent		91
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0001197	HP:0034057	Fetal anomaly	1	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I			22
HP:0001197	HP:0001622	Premature birth	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA			1
HP:0001197	HP:0034057	Fetal anomaly	1	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18			2
HP:0001197	HP:0034057	Fetal anomaly	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001197	HP:0034057	Fetal anomaly	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001787	Abnormal delivery	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0030917	Low APGAR score	1	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0034057	Fetal anomaly	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001787	Abnormal delivery	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0030917	Low APGAR score	1	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0001197	HP:0034057	Fetal anomaly	1	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			37
HP:0001197	HP:0034057	Fetal anomaly	1	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0001197	HP:0031169	Postterm pregnancy	1	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040282 - Frequent		37
HP:0001197	HP:0034057	Fetal anomaly	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0001197	HP:0031169	Postterm pregnancy	1	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		37
HP:0001197	HP:0034057	Fetal anomaly	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0001197	HP:0031169	Postterm pregnancy	1	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		37
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0001197	HP:0034057	Fetal anomaly	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0001197	HP:0001787	Abnormal delivery	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0001197	HP:0034057	Fetal anomaly	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0001197	HP:0034057	Fetal anomaly	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0001197	HP:0034057	Fetal anomaly	1	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SOX17 CL E G H	64321	18122	OMIM:613674	Vesicoureteral reflux 3			3
HP:0001197	HP:0034057	Fetal anomaly	1	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome			7
HP:0001197	HP:0034057	Fetal anomaly	1	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome			7
HP:0001197	HP:0034057	Fetal anomaly	1	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome			7
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum			33
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum			24
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0001197	HP:0034057	Fetal anomaly	1	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0001197	HP:0034057	Fetal anomaly	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies			6
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0001197	HP:0034057	Fetal anomaly	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0001197	HP:0034057	Fetal anomaly	1	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis			228
HP:0001197	HP:0034057	Fetal anomaly	1	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis			156
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001197	HP:0001787	Abnormal delivery	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001197	HP:0034057	Fetal anomaly	1	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia			62
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0001197	HP:0034057	Fetal anomaly	1	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0001197	HP:0001622	Premature birth	1	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3			9
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	STK11 CL E G H	6794	11389	OMIM:273300	Testicular tumor, somatic			740
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia			2
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	STOX1 CL E G H	219736	23508	OMIM:609404	Preeclampsia/eclampsia 4			2
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0001197	HP:0001622	Premature birth	1	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome			6
HP:0001197	HP:0034057	Fetal anomaly	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0001197	HP:0001622	Premature birth	1	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		124
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly			124
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	SYCP3 CL E G H	50511	18130	OMIM:270960	Spermatogenic failure 4			12
HP:0001197	HP:0034057	Fetal anomaly	1	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0001197	HP:0034057	Fetal anomaly	1	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type			1129
HP:0001197	HP:0034057	Fetal anomaly	1	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0001197	HP:0034057	Fetal anomaly	1	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			108
HP:0001197	HP:0034057	Fetal anomaly	1	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			9
HP:0001197	HP:0034057	Fetal anomaly	1	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0001197	HP:0034057	Fetal anomaly	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0001197	HP:0034057	Fetal anomaly	1	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			123
HP:0001197	HP:0001787	Abnormal delivery	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0001197	HP:0034057	Fetal anomaly	1	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency			34
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0001197	HP:0001787	Abnormal delivery	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0001197	HP:0034057	Fetal anomaly	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0001197	HP:0034057	Fetal anomaly	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0001197	HP:0034057	Fetal anomaly	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome			16
HP:0001197	HP:0034057	Fetal anomaly	1	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0001197	HP:0034057	Fetal anomaly	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0001197	HP:0034057	Fetal anomaly	1	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome			45
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome			76
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8			76
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome			31
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4			31
HP:0001197	HP:0001622	Premature birth	1	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		1
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly			1
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		162
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		85
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		239
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		253
HP:0001197	HP:0001622	Premature birth	1	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		32
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly			32
HP:0001197	HP:0034057	Fetal anomaly	1	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1			98
HP:0001197	HP:0001622	Premature birth	1	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35			5
HP:0001197	HP:0034057	Fetal anomaly	1	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0001197	HP:0034057	Fetal anomaly	1	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia			6
HP:0001197	HP:0034057	Fetal anomaly	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0001197	HP:0034057	Fetal anomaly	1	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia
HP:0001197	HP:0034057	Fetal anomaly	1	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome			4
HP:0001197	HP:0034057	Fetal anomaly	1	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome			45
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome			33
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TMEM231 CL E G H	79583	37234	OMIM:615397	Meckel syndrome, type 11			33
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome			82
HP:0001197	HP:0034057	Fetal anomaly	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome			166
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2			63
HP:0001197	HP:0001622	Premature birth	1	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.		63
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0001197	HP:0034057	Fetal anomaly	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome			911
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome			911
HP:0001197	HP:0001622	Premature birth	1	TP53RK CL E G H	112858	16197	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	TP63 CL E G H	8626	15979	ORPHA:1072	Ankyloblepharon filiforme adnatum-cleft palate syndrome			140
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip			140
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip			140
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0001197	HP:0034057	Fetal anomaly	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0001197	HP:0001787	Abnormal delivery	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0001197	HP:0034057	Fetal anomaly	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0001197	HP:0034057	Fetal anomaly	1	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			54
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy			54
HP:0001197	HP:0034057	Fetal anomaly	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0001197	HP:0001787	Abnormal delivery	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0001197	HP:0034057	Fetal anomaly	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0001197	HP:0034057	Fetal anomaly	1	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy			108
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy			108
HP:0001197	HP:0001622	Premature birth	1	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040283 - Occasional		108
HP:0001197	HP:0034057	Fetal anomaly	1	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			108
HP:0001197	HP:0001622	Premature birth	1	TPRKB CL E G H	51002	24259	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0001197	HP:0034057	Fetal anomaly	1	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0001197	HP:0034057	Fetal anomaly	1	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0001197	HP:0034057	Fetal anomaly	1	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome			2
HP:0001197	HP:0034057	Fetal anomaly	1	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia			31
HP:0001197	HP:0034057	Fetal anomaly	1	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia			31
HP:0001197	HP:0034057	Fetal anomaly	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0001197	HP:0034057	Fetal anomaly	1	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A			133
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A			133
HP:0001197	HP:0034057	Fetal anomaly	1	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0001197	HP:0034057	Fetal anomaly	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0001197	HP:0033334	Abnormal embryonic development	1	TRIP13 CL E G H	9319	12307	OMIM:619011	OOCYTE MATURATION DEFECT 9; OOMD9			2
HP:0001197	HP:0034057	Fetal anomaly	1	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0001197	HP:0001622	Premature birth	1	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0001197	HP:0034057	Fetal anomaly	1	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0001197	HP:0034057	Fetal anomaly	1	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive			214
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal			4
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4			102
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4			102
HP:0001197	HP:0034057	Fetal anomaly	1	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3			43
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	TSHR CL E G H	7253	12373	ORPHA:99819	Familial gestational hyperthyroidism			97
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	TSHR CL E G H	7253	12373	OMIM:603373	HYPERTHYROIDISM, FAMILIAL GESTATIONAL			97
HP:0001197	HP:0001622	Premature birth	1	TSHR CL E G H	7253	12373	OMIM:609152	Hyperthyroidism, nonautoimmune	.		97
HP:0001197	HP:0034057	Fetal anomaly	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0001197	HP:0034057	Fetal anomaly	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001197	HP:0034057	Fetal anomaly	1	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0001197	HP:0034057	Fetal anomaly	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome			26
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome			26
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TTC7A CL E G H	57217	19750	ORPHA:2300	Multiple intestinal atresia			26
HP:0001197	HP:0034057	Fetal anomaly	1	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0001197	HP:0034057	Fetal anomaly	1	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0001197	HP:0034057	Fetal anomaly	1	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome			2
HP:0001197	HP:0034057	Fetal anomaly	1	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2			35
HP:0001197	HP:0034057	Fetal anomaly	1	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0001197	HP:0034057	Fetal anomaly	1	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11			1
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0001197	HP:0001787	Abnormal delivery	1	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0001197	HP:0034057	Fetal anomaly	1	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001197	HP:0034057	Fetal anomaly	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040283 - Occasional		31
HP:0001197	HP:0034057	Fetal anomaly	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040283 - Occasional		41
HP:0001197	HP:0034057	Fetal anomaly	1	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2			2
HP:0001197	HP:0034057	Fetal anomaly	1	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0001197	HP:0030917	Low APGAR score	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0001197	HP:0034057	Fetal anomaly	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0001197	HP:0034057	Fetal anomaly	1	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic			2
HP:0001197	HP:0034057	Fetal anomaly	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence			111
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly			2
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly			2
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly			2
HP:0001197	HP:0001622	Premature birth	1	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0001197	HP:0001787	Abnormal delivery	1	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0001197	HP:0034057	Fetal anomaly	1	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia			63
HP:0001197	HP:0034057	Fetal anomaly	1	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia			63
HP:0001197	HP:0034057	Fetal anomaly	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0001197	HP:0034057	Fetal anomaly	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0001197	HP:0001622	Premature birth	1	WARS2 CL E G H	10352	12730	OMIM:619738	PARKINSONISM-DYSTONIA 3, CHILDHOOD-ONSET; PKDYS3			2
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0001197	HP:0034057	Fetal anomaly	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0001197	HP:0034057	Fetal anomaly	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0001197	HP:0034057	Fetal anomaly	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0001197	HP:0034057	Fetal anomaly	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			136
HP:0001197	HP:0034057	Fetal anomaly	1	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly			136
HP:0001197	HP:0001622	Premature birth	1	WDR4 CL E G H	10785	12756	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent
HP:0001197	HP:0034057	Fetal anomaly	1	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0001197	HP:0001622	Premature birth	1	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0001197	HP:0001622	Premature birth	1	WDR73 CL E G H	84942	25928	ORPHA:2065	Galloway-Mowat syndrome	HP:0040282 - Frequent		14
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1			14
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies			27
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive			12
HP:0001197	HP:0034057	Fetal anomaly	1	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive			12
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome			12
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs			4
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome			4
HP:0001197	HP:0034057	Fetal anomaly	1	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type			13
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001197	HP:0034057	Fetal anomaly	1	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001197	HP:0034057	Fetal anomaly	1	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			149
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0001197	HP:0001622	Premature birth	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome			14
HP:0001197	HP:0034057	Fetal anomaly	1	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0034057	Fetal anomaly	1	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0001197	HP:0034057	Fetal anomaly	1	ZBTB42 CL E G H	100128927	32550	OMIM:616248	Lethal congenital contracture syndrome 6			1
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ZBTB42 CL E G H	100128927	32550	OMIM:616248	Lethal congenital contracture syndrome 6			1
HP:0001197	HP:0034057	Fetal anomaly	1	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0001197	HP:0034057	Fetal anomaly	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus			30
HP:0001197	HP:0001622	Premature birth	1	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040282 - Frequent		34
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly			34
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001197	HP:0034057	Fetal anomaly	1	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked			39
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked			39
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0001197	HP:0034057	Fetal anomaly	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0001197	HP:0001622	Premature birth	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		83
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0001197	HP:0034057	Fetal anomaly	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0001197	HP:0001622	Premature birth	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.		83
HP:0001197	HP:0001787	Abnormal delivery	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0001197	HP:0002686	Prenatal maternal abnormality	1	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0001197	HP:0001194	Abnormalities of placenta or umbilical cord	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001197	HP:0034057	Fetal anomaly	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001197	HP:0001560	Abnormality of the amniotic fluid	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001197	HP:0001622	Premature birth	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001197	HP:0001787	Abnormal delivery	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001197	HP:0011411	Forceps delivery	2	CL E G H
HP:0001197	HP:0011413	Shoulder dystocia	2	CL E G H
HP:0001197	HP:0012546	Skewed maternal X inactivation	2	CL E G H
HP:0001197	HP:0025664	Moderate to late preterm birth	2	CL E G H
HP:0001197	HP:0025665	Extremely preterm birth	2	CL E G H
HP:0001197	HP:0025666	Very preterm birth	2	CL E G H
HP:0001197	HP:0030365	Vaginal birth after Caesarian	2	CL E G H
HP:0001197	HP:0030366	Delivery by Odon device	2	CL E G H
HP:0001197	HP:0030449	Therapeutic abortion	2	CL E G H
HP:0001197	HP:0033467	Low 10-minute APGAR score	2	CL E G H
HP:0001197	HP:0040222	Maternal thrombophilia	2	CL E G H
HP:0001197	HP:0100610	Maternal hyperphenylalaninemia	2	CL E G H
HP:0001197	HP:0100622	Maternal seizure	2	CL E G H
HP:0001197	HP:0034059	Abnormal fetal physiology	2	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0100603	Toxemia of pregnancy	2	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy			146
HP:0001197	HP:0012420	Meconium stained amniotic fluid	2	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional		146
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ABCB4 CL E G H	5244	45	OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3			111
HP:0001197	HP:0100603	Toxemia of pregnancy	2	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy			111
HP:0001197	HP:0012420	Meconium stained amniotic fluid	2	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional		111
HP:0001197	HP:0034058	Abnormal fetal morphology	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0001197	HP:0001561	Polyhydramnios	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent		415
HP:0001197	HP:0200067	Recurrent spontaneous abortion	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		415
HP:0001197	HP:0034058	Abnormal fetal morphology	2	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum			415
HP:0001197	HP:0009800	Maternal diabetes	2	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional		245
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0001197	HP:0001562	Oligohydramnios	2	ACE CL E G H	1636	2707	OMIM:267430	Renal tubular dysgenesis	.		113
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0001197	HP:0001561	Polyhydramnios	2	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		96
HP:0001197	HP:0001623	Breech presentation	2	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		96
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0001197	HP:0001561	Polyhydramnios	2	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy			96
HP:0001197	HP:0001561	Polyhydramnios	2	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		96
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			96
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3			96
HP:0001197	HP:0001561	Polyhydramnios	2	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.		96
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy			96
HP:0001197	HP:0001561	Polyhydramnios	2	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		96
HP:0001197	HP:0001623	Breech presentation	2	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		96
HP:0001197	HP:0001561	Polyhydramnios	2	ACTA1 CL E G H	58	129	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		96
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy			96
HP:0001197	HP:0001561	Polyhydramnios	2	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040282 - Frequent		23
HP:0001197	HP:0001562	Oligohydramnios	2	ACTG2 CL E G H	72	145	OMIM:619431	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 5; MMIHS5			23
HP:0001197	HP:0001561	Polyhydramnios	2	ACTG2 CL E G H	72	145	OMIM:155310	Visceral myopathy 1	.		23
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001197	HP:0034058	Abnormal fetal morphology	2	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome			75
HP:0001197	HP:0034058	Abnormal fetal morphology	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001197	HP:0001788	Premature rupture of membranes	2	ADAMTS2 CL E G H	9509	218	OMIM:225410	Ehlers-Danlos syndrome, type VII, autosomal recessive	.		165
HP:0001197	HP:0001561	Polyhydramnios	2	ADAMTS3 CL E G H	9508	219	OMIM:618154	Hennekam lymphangiectasia-lymphedema syndrome 3	.		1
HP:0001197	HP:0034058	Abnormal fetal morphology	2	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0001197	HP:0034058	Abnormal fetal morphology	2	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0001197	HP:0001561	Polyhydramnios	2	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0001197	HP:0001561	Polyhydramnios	2	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional		9
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9			5
HP:0001197	HP:0001561	Polyhydramnios	2	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9	.		5
HP:0001197	HP:0100603	Toxemia of pregnancy	2	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9			5
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9			5
HP:0001197	HP:0034059	Abnormal fetal physiology	2	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe			59
HP:0001197	HP:0034058	Abnormal fetal morphology	2	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome			1
HP:0001197	HP:0034059	Abnormal fetal physiology	2	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0001197	HP:0001561	Polyhydramnios	2	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		127
HP:0001197	HP:0001562	Oligohydramnios	2	AGT CL E G H	183	333	OMIM:267430	Renal tubular dysgenesis	.		48
HP:0001197	HP:0011410	Caesarian section	2	AGTPBP1 CL E G H	23287	17258	OMIM:618276	Neurodegeneration, childhood-onset, with cerebellar atrophy			1
HP:0001197	HP:0001562	Oligohydramnios	2	AGTR1 CL E G H	185	336	OMIM:267430	Renal tubular dysgenesis	.		33
HP:0001197	HP:0034058	Abnormal fetal morphology	2	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency			31
HP:0001197	HP:0001562	Oligohydramnios	2	ALB CL E G H	213	399	OMIM:616000	Analbuminemia			104
HP:0001197	HP:0001562	Oligohydramnios	2	ALB CL E G H	213	399	ORPHA:86816	Congenital analbuminemia	HP:0040283 - Occasional		104
HP:0001197	HP:0001561	Polyhydramnios	2	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent			227
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy			227
HP:0001197	HP:0012420	Meconium stained amniotic fluid	2	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional		227
HP:0001197	HP:0034058	Abnormal fetal morphology	2	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik			58
HP:0001197	HP:0001561	Polyhydramnios	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040284 - Very rare		68
HP:0001197	HP:0001561	Polyhydramnios	2	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.		68
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0001197	HP:0001561	Polyhydramnios	2	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0001197	HP:0034058	Abnormal fetal morphology	2	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG			46
HP:0001197	HP:0001562	Oligohydramnios	2	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional		46
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0001197	HP:0001562	Oligohydramnios	2	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.		46
HP:0001197	HP:0034058	Abnormal fetal morphology	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0001197	HP:0001562	Oligohydramnios	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0001197	HP:0034058	Abnormal fetal morphology	2	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0001197	HP:0001561	Polyhydramnios	2	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0001197	HP:0001562	Oligohydramnios	2	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0001197	HP:0034058	Abnormal fetal morphology	2	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27			89
HP:0001197	HP:0001561	Polyhydramnios	2	ALPL CL E G H	249	438	OMIM:241500	Hypophosphatasia, infantile	.		126
HP:0001197	HP:0001562	Oligohydramnios	2	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2			132
HP:0001197	HP:0001562	Oligohydramnios	2	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040282 - Frequent		132
HP:0001197	HP:0001561	Polyhydramnios	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0001197	HP:0001562	Oligohydramnios	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0001197	HP:0001561	Polyhydramnios	2	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0001197	HP:0001561	Polyhydramnios	2	ANO1 CL E G H	55107	21625	OMIM:620045
HP:0001197	HP:0200067	Recurrent spontaneous abortion	2	ANXA5 CL E G H	308	543	OMIM:614391	Pregnancy loss, recurrent, susceptibility to, 3	.		1
HP:0001197	HP:0034059	Abnormal fetal physiology	2	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			7
HP:0001197	HP:0001561	Polyhydramnios	2	AQP2 CL E G H	359	634	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040284 - Very rare		75
HP:0001197	HP:0009800	Maternal diabetes	2	ARNT2 CL E G H	9915	16876	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional
HP:0001197	HP:0011410	Caesarian section	2	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001197	HP:0001561	Polyhydramnios	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0001197	HP:0034058	Abnormal fetal morphology	2	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease			78
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0001197	HP:0001561	Polyhydramnios	2	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome			15
HP:0001197	HP:0001561	Polyhydramnios	2	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional		15
HP:0001197	HP:0001562	Oligohydramnios	2	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional		15
HP:0001197	HP:0001623	Breech presentation	2	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0001197	HP:0100603	Toxemia of pregnancy	2	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0001197	HP:0001561	Polyhydramnios	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0001197	HP:0034058	Abnormal fetal morphology	2	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0001197	HP:0001561	Polyhydramnios	2	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0001197	HP:0001623	Breech presentation	2	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0001197	HP:0011410	Caesarian section	2	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS			49
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0001197	HP:0001561	Polyhydramnios	2	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0001197	HP:0034058	Abnormal fetal morphology	2	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0001197	HP:0001562	Oligohydramnios	2	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD			239
HP:0001197	HP:0001561	Polyhydramnios	2	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD			239
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			239
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			150
HP:0001197	HP:0001561	Polyhydramnios	2	ATP6V0A1 CL E G H	535	865	OMIM:619971				1
HP:0001197	HP:0001788	Premature rupture of membranes	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent		140
HP:0001197	HP:0001788	Premature rupture of membranes	2	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.		140
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001197	HP:0034058	Abnormal fetal morphology	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0001197	HP:0001561	Polyhydramnios	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent		5
HP:0001197	HP:0011409	Abnormal placental membrane morphology	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare		5
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ATP8B1 CL E G H	5205	3706	OMIM:147480	Cholestasis, intrahepatic, of pregnancy, 1			144
HP:0001197	HP:0100603	Toxemia of pregnancy	2	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy			144
HP:0001197	HP:0012420	Meconium stained amniotic fluid	2	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional		144
HP:0001197	HP:0001561	Polyhydramnios	2	AVPR2 CL E G H	554	897	ORPHA:223	Nephrogenic diabetes insipidus	HP:0040284 - Very rare		67
HP:0001197	HP:0001561	Polyhydramnios	2	B3GALT6 CL E G H	126792	17978	OMIM:609465	AL-GAZALI SYNDROME			38
HP:0001197	HP:0001562	Oligohydramnios	2	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional		38
HP:0001197	HP:0034059	Abnormal fetal physiology	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0001197	HP:0001561	Polyhydramnios	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional		36
HP:0001197	HP:0001561	Polyhydramnios	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0001197	HP:0001562	Oligohydramnios	2	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		28
HP:0001197	HP:0001562	Oligohydramnios	2	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		34
HP:0001197	HP:0034058	Abnormal fetal morphology	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0001197	HP:0100767	Abnormal placenta morphology	2	BCL10 CL E G H	8915	989	OMIM:273300	Testicular tumor, somatic			18
HP:0001197	HP:0034058	Abnormal fetal morphology	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0001197	HP:0034059	Abnormal fetal physiology	2	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy			46
HP:0001197	HP:0034059	Abnormal fetal physiology	2	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant			46
HP:0001197	HP:0034059	Abnormal fetal physiology	2	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0001197	HP:0001561	Polyhydramnios	2	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		99
HP:0001197	HP:0034059	Abnormal fetal physiology	2	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2			99
HP:0001197	HP:0001562	Oligohydramnios	2	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2			99
HP:0001197	HP:0034058	Abnormal fetal morphology	2	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0001197	HP:0001562	Oligohydramnios	2	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.		78
HP:0001197	HP:0034058	Abnormal fetal morphology	2	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve			22
HP:0001197	HP:0001562	Oligohydramnios	2	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040284 - Very rare		22
HP:0001197	HP:0001561	Polyhydramnios	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.		276
HP:0001197	HP:0001562	Oligohydramnios	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		5769
HP:0001197	HP:0001562	Oligohydramnios	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		7642
HP:0001197	HP:0034058	Abnormal fetal morphology	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0001197	HP:0034059	Abnormal fetal physiology	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0001197	HP:0001562	Oligohydramnios	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1086
HP:0001197	HP:0034058	Abnormal fetal morphology	2	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness			53
HP:0001197	HP:0001561	Polyhydramnios	2	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.		53
HP:0001197	HP:0001563	Fetal polyuria	2	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.		53
HP:0001197	HP:0001561	Polyhydramnios	2	BSND CL E G H	7809	16512	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		53
HP:0001197	HP:0033335	Abnormal preimplantation embryonic development	2	BTG4 CL E G H	54766	13862	OMIM:619009	OOCYTE MATURATION DEFECT 8; OOMD8
HP:0001197	HP:0034058	Abnormal fetal morphology	2	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0001197	HP:0001561	Polyhydramnios	2	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent		5
HP:0001197	HP:0034058	Abnormal fetal morphology	2	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0001197	HP:0001561	Polyhydramnios	2	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent		76
HP:0001197	HP:0001562	Oligohydramnios	2	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.		76
HP:0001197	HP:0034058	Abnormal fetal morphology	2	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0001197	HP:0001561	Polyhydramnios	2	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent
HP:0001197	HP:0034058	Abnormal fetal morphology	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0001197	HP:0200067	Recurrent spontaneous abortion	2	C11ORF80 CL E G H	79703	26197	OMIM:618432	HYDATIDIFORM MOLE, RECURRENT, 4; HYDM4
HP:0001197	HP:0032192	Hydatidiform mole	2	C11ORF80 CL E G H	79703	26197	OMIM:618432	HYDATIDIFORM MOLE, RECURRENT, 4; HYDM4
HP:0001197	HP:0001562	Oligohydramnios	2	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33	.
HP:0001197	HP:0034058	Abnormal fetal morphology	2	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia			56
HP:0001197	HP:0034058	Abnormal fetal morphology	2	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia			56
HP:0001197	HP:0001562	Oligohydramnios	2	CA2 CL E G H	760	1373	ORPHA:2785	Osteopetrosis with renal tubular acidosis			29
HP:0001197	HP:0034059	Abnormal fetal physiology	2	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			449
HP:0001197	HP:0034059	Abnormal fetal physiology	2	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0001197	HP:0011410	Caesarian section	2	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040282 - Frequent		51
HP:0001197	HP:0034059	Abnormal fetal physiology	2	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			59
HP:0001197	HP:0034058	Abnormal fetal morphology	2	CALCRL CL E G H	10203	16709	OMIM:618773	LYMPHATIC MALFORMATION 8; LMPHM8			3
HP:0001197	HP:0001561	Polyhydramnios	2	CALCRL CL E G H	10203	16709	OMIM:618773	LYMPHATIC MALFORMATION 8; LMPHM8			3
HP:0001197	HP:0034059	Abnormal fetal physiology	2	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001197	HP:0034059	Abnormal fetal physiology	2	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome			1
HP:0001197	HP:0034058	Abnormal fetal morphology	2	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27			35
HP:0001197	HP:0034058	Abnormal fetal morphology	2	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome			87
HP:0001197	HP:0034058	Abnormal fetal morphology	2	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0001197	HP:0001561	Polyhydramnios	2	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	HP:0040283 - Occasional		317
HP:0001197	HP:0001562	Oligohydramnios	2	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		247
HP:0001197	HP:0034058	Abnormal fetal morphology	2	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0001197	HP:0031456	Ectopic pregnancy	2	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		36
HP:0001197	HP:0034059	Abnormal fetal physiology	2	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation			1
HP:0001197	HP:0034058	Abnormal fetal morphology	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0001197	HP:0031456	Ectopic pregnancy	2	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		126
HP:0001197	HP:0031456	Ectopic pregnancy	2	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		182
HP:0001197	HP:0031456	Ectopic pregnancy	2	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		23
HP:0001197	HP:0031456	Ectopic pregnancy	2	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		23
HP:0001197	HP:0012541	Cephalohematoma	2	CD109 CL E G H	135228	21685	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent
HP:0001197	HP:0100603	Toxemia of pregnancy	2	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome			39
HP:0001197	HP:0100767	Abnormal placenta morphology	2	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome			39
HP:0001197	HP:0001561	Polyhydramnios	2	CD96 CL E G H	10225	16892	ORPHA:1308	C syndrome	HP:0040283 - Occasional		83
HP:0001197	HP:0034058	Abnormal fetal morphology	2	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia			86
HP:0001197	HP:0034058	Abnormal fetal morphology	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001197	HP:0034059	Abnormal fetal physiology	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001197	HP:0001561	Polyhydramnios	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001197	HP:0001562	Oligohydramnios	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001197	HP:0012541	Cephalohematoma	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001197	HP:0001561	Polyhydramnios	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0001197	HP:0034059	Abnormal fetal physiology	2	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0100767	Abnormal placenta morphology	2	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0001197	HP:0001562	Oligohydramnios	2	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent		114
HP:0001197	HP:0100767	Abnormal placenta morphology	2	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0001197	HP:0100767	Abnormal placenta morphology	2	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome			289
HP:0001197	HP:0009800	Maternal diabetes	2	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		200
HP:0001197	HP:0034059	Abnormal fetal physiology	2	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0001562	Oligohydramnios	2	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		342
HP:0001197	HP:0001562	Oligohydramnios	2	CEP55 CL E G H	55165	1161	OMIM:236500	Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly			2
HP:0001197	HP:0034058	Abnormal fetal morphology	2	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0001197	HP:0001561	Polyhydramnios	2	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent		17
HP:0001197	HP:0001562	Oligohydramnios	2	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0001197	HP:0031456	Ectopic pregnancy	2	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001197	HP:0031456	Ectopic pregnancy	2	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001197	HP:0031456	Ectopic pregnancy	2	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001197	HP:0100603	Toxemia of pregnancy	2	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome			86
HP:0001197	HP:0100767	Abnormal placenta morphology	2	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome			86
HP:0001197	HP:0100603	Toxemia of pregnancy	2	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome			57
HP:0001197	HP:0100767	Abnormal placenta morphology	2	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome			57
HP:0001197	HP:0001623	Breech presentation	2	CFL2 CL E G H	1073	1875	OMIM:610687	Nemaline myopathy 7			35
HP:0001197	HP:0001561	Polyhydramnios	2	CFL2 CL E G H	1073	1875	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		35
HP:0001197	HP:0034059	Abnormal fetal physiology	2	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0001197	HP:0001561	Polyhydramnios	2	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		65
HP:0001197	HP:0001561	Polyhydramnios	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		515
HP:0001197	HP:0001561	Polyhydramnios	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0001197	HP:0034058	Abnormal fetal morphology	2	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome			515
HP:0001197	HP:0100767	Abnormal placenta morphology	2	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome			833
HP:0001197	HP:0034058	Abnormal fetal morphology	2	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia			42
HP:0001197	HP:0034058	Abnormal fetal morphology	2	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia			42
HP:0001197	HP:0001562	Oligohydramnios	2	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040282 - Frequent		4
HP:0001197	HP:0001562	Oligohydramnios	2	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome	.		4
HP:0001197	HP:0034059	Abnormal fetal physiology	2	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type			74
HP:0001197	HP:0001561	Polyhydramnios	2	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		74
HP:0001197	HP:0034059	Abnormal fetal physiology	2	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type			88
HP:0001197	HP:0001561	Polyhydramnios	2	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		88
HP:0001197	HP:0034059	Abnormal fetal physiology	2	CHRND CL E G H	1144	1965	OMIM:616322	Myasthenic syndrome, congenital, 3B, fast-channel			88
HP:0001197	HP:0034059	Abnormal fetal physiology	2	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			139
HP:0001197	HP:0034059	Abnormal fetal physiology	2	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0001197	HP:0034059	Abnormal fetal physiology	2	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type			68
HP:0001197	HP:0001561	Polyhydramnios	2	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		68
HP:0001197	HP:0001623	Breech presentation	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0001197	HP:0034059	Abnormal fetal physiology	2	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome			3
HP:0001197	HP:0001561	Polyhydramnios	2	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0001197	HP:0034058	Abnormal fetal morphology	2	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0001197	HP:0001561	Polyhydramnios	2	CLCN7 CL E G H	1186	2025	OMIM:618541	Hypopigmentation, organomegaly, and delayed myelination and development	.		102
HP:0001197	HP:0001561	Polyhydramnios	2	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		9
HP:0001197	HP:0001563	Fetal polyuria	2	CLCNKA CL E G H	1187	2026	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		9
HP:0001197	HP:0001561	Polyhydramnios	2	CLCNKA CL E G H	1187	2026	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		9
HP:0001197	HP:0001561	Polyhydramnios	2	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		27
HP:0001197	HP:0001563	Fetal polyuria	2	CLCNKB CL E G H	1188	2027	OMIM:613090	Bartter syndrome, type 4B, neonatal, with sensorineural deafness	.		27
HP:0001197	HP:0009800	Maternal diabetes	2	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		27
HP:0001197	HP:0001561	Polyhydramnios	2	CLCNKB CL E G H	1188	2027	ORPHA:89938	Infantile Bartter syndrome with sensorineural deafness	HP:0040282 - Frequent		27
HP:0001197	HP:0034058	Abnormal fetal morphology	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0001197	HP:0034059	Abnormal fetal physiology	2	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0001197	HP:0001561	Polyhydramnios	2	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A			38
HP:0001197	HP:0034059	Abnormal fetal physiology	2	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001197	HP:0001562	Oligohydramnios	2	CLTCL1 CL E G H	8218	2093	ORPHA:453510	Congenital insensitivity to pain with severe intellectual disability	HP:0040283 - Occasional		6
HP:0001197	HP:0034059	Abnormal fetal physiology	2	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			18
HP:0001197	HP:0034059	Abnormal fetal physiology	2	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north			40
HP:0001197	HP:0001561	Polyhydramnios	2	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north	.		40
HP:0001197	HP:0034059	Abnormal fetal physiology	2	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7			9
HP:0001197	HP:0001561	Polyhydramnios	2	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7	.		9
HP:0001197	HP:0034059	Abnormal fetal physiology	2	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0001197	HP:0001561	Polyhydramnios	2	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.		9
HP:0001197	HP:0001562	Oligohydramnios	2	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional		79
HP:0001197	HP:0034058	Abnormal fetal morphology	2	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0001197	HP:0034058	Abnormal fetal morphology	2	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0001197	HP:0001561	Polyhydramnios	2	COL11A2 CL E G H	1302	2187	ORPHA:1427	Otospondylomegaepiphyseal dysplasia	HP:0040283 - Occasional		222
HP:0001197	HP:0034059	Abnormal fetal physiology	2	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			65
HP:0001197	HP:0034059	Abnormal fetal physiology	2	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0001197	HP:0001561	Polyhydramnios	2	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		6
HP:0001197	HP:0001788	Premature rupture of membranes	2	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		373
HP:0001197	HP:0001623	Breech presentation	2	COL1A1 CL E G H	1277	2197	OMIM:130060	Ehlers-Danlos syndrome, arthrochalasia type, 1	.		373
HP:0001197	HP:0034058	Abnormal fetal morphology	2	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA			373
HP:0001197	HP:0001623	Breech presentation	2	COL1A2 CL E G H	1278	2198	OMIM:617821	Ehlers-Danlos syndrome, arthrochalasia type, 2	.		243
HP:0001197	HP:0034058	Abnormal fetal morphology	2	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA			243
HP:0001197	HP:0034059	Abnormal fetal physiology	2	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita			3
HP:0001197	HP:0001562	Oligohydramnios	2	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional		3
HP:0001197	HP:0001623	Breech presentation	2	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional		3
HP:0001197	HP:0034058	Abnormal fetal morphology	2	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II			284
HP:0001197	HP:0001561	Polyhydramnios	2	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II	.		284
HP:0001197	HP:0034058	Abnormal fetal morphology	2	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type			284
HP:0001197	HP:0001561	Polyhydramnios	2	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type	HP:0040282 - Frequent		284
HP:0001197	HP:0001561	Polyhydramnios	2	COL2A1 CL E G H	1280	2200	OMIM:151210	Platyspondylic lethal skeletal dysplasia, Torrance type			284
HP:0001197	HP:0009800	Maternal diabetes	2	COL2A1 CL E G H	1280	2200	ORPHA:93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type	HP:0040283 - Occasional		284
HP:0001197	HP:0001561	Polyhydramnios	2	COL2A1 CL E G H	1280	2200	ORPHA:93316	Spondylometaphyseal dysplasia, Schmidt type	HP:0040283 - Occasional		284
HP:0001197	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	2	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type	.		749
HP:0001197	HP:0001788	Premature rupture of membranes	2	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome			749
HP:0001197	HP:0001788	Premature rupture of membranes	2	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		660
HP:0001197	HP:0001788	Premature rupture of membranes	2	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0001197	HP:0005100	Premature birth following premature rupture of fetal membranes	2	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I	.		660
HP:0001197	HP:0001788	Premature rupture of membranes	2	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional		325
HP:0001197	HP:0034059	Abnormal fetal physiology	2	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1			442
HP:0001197	HP:0034059	Abnormal fetal physiology	2	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			442
HP:0001197	HP:0034059	Abnormal fetal physiology	2	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1			478
HP:0001197	HP:0034059	Abnormal fetal physiology	2	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			478
HP:0001197	HP:0034059	Abnormal fetal physiology	2	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1			702
HP:0001197	HP:0034059	Abnormal fetal physiology	2	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			702
HP:0001197	HP:0001561	Polyhydramnios	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0001197	HP:0001562	Oligohydramnios	2	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040283 - Occasional		54
HP:0001197	HP:0001562	Oligohydramnios	2	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8	.		1
HP:0001197	HP:0100767	Abnormal placenta morphology	2	CORIN CL E G H	10699	19012	ORPHA:275555	Preeclampsia	HP:0040281 - Very frequent		5
HP:0001197	HP:0100603	Toxemia of pregnancy	2	CORIN CL E G H	10699	19012	OMIM:614595	Preeclampsia/eclampsia 5			5
HP:0001197	HP:0001562	Oligohydramnios	2	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10			4
HP:0001197	HP:0034059	Abnormal fetal physiology	2	COX15 CL E G H	1355	2263	OMIM:615119	Mitochondrial complex IV deficiency, nuclear type 6			104
HP:0001197	HP:0034059	Abnormal fetal physiology	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0001197	HP:0034059	Abnormal fetal physiology	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0001197	HP:0034059	Abnormal fetal physiology	2	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0001197	HP:0001562	Oligohydramnios	2	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	HP:0040283 - Occasional		101
HP:0001197	HP:0001561	Polyhydramnios	2	CRB2 CL E G H	286204	18688	OMIM:219730	Ventriculomegaly with cystic kidney disease	.		12
HP:0001197	HP:0001561	Polyhydramnios	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001197	HP:0001561	Polyhydramnios	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional		291
HP:0001197	HP:0034059	Abnormal fetal physiology	2	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0001197	HP:0001623	Breech presentation	2	CRTAP CL E G H	10491	2379	OMIM:610682	Osteogenesis imperfecta, type VII	.		124
HP:0001197	HP:0034058	Abnormal fetal morphology	2	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001197	HP:0001562	Oligohydramnios	2	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		57
HP:0001197	HP:0034059	Abnormal fetal physiology	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001197	HP:0034059	Abnormal fetal physiology	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0001197	HP:0034059	Abnormal fetal physiology	2	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0001197	HP:0009800	Maternal diabetes	2	CTRC CL E G H	11330	2523	ORPHA:103918	Tropical pancreatitis			39
HP:0001197	HP:0034058	Abnormal fetal morphology	2	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0001197	HP:0034059	Abnormal fetal physiology	2	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001197	HP:0011436	Abnormal maternal serum screening	2	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency			31
HP:0001197	HP:0030369	Induced vaginal delivery	2	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent		31
HP:0001197	HP:0011436	Abnormal maternal serum screening	2	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency			31
HP:0001197	HP:0030369	Induced vaginal delivery	2	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent		31
HP:0001197	HP:0100603	Toxemia of pregnancy	2	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I			112
HP:0001197	HP:0011410	Caesarian section	2	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I	HP:0040283 - Occasional		112
HP:0001197	HP:0100603	Toxemia of pregnancy	2	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I			73
HP:0001197	HP:0011410	Caesarian section	2	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I	HP:0040283 - Occasional		73
HP:0001197	HP:0008072	Maternal virilization in pregnancy	2	CYP19A1 CL E G H	1588	2594	ORPHA:91	Aromatase deficiency	HP:0040281 - Very frequent		60
HP:0001197	HP:0001562	Oligohydramnios	2	DALRD3 CL E G H	55152	25536	OMIM:618910	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 86; DEE86
HP:0001197	HP:0034059	Abnormal fetal physiology	2	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0034058	Abnormal fetal morphology	2	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome			94
HP:0001197	HP:0034058	Abnormal fetal morphology	2	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001197	HP:0001562	Oligohydramnios	2	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001197	HP:0034059	Abnormal fetal physiology	2	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0001197	HP:0001562	Oligohydramnios	2	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001197	HP:0001788	Premature rupture of membranes	2	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001197	HP:0034058	Abnormal fetal morphology	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0001197	HP:0034059	Abnormal fetal physiology	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0001197	HP:0001561	Polyhydramnios	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent		159
HP:0001197	HP:0001623	Breech presentation	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0001197	HP:0034059	Abnormal fetal physiology	2	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			47
HP:0001197	HP:0034058	Abnormal fetal morphology	2	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0001197	HP:0001562	Oligohydramnios	2	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment	.
HP:0001197	HP:0100603	Toxemia of pregnancy	2	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0001197	HP:0001561	Polyhydramnios	2	DIS3L2 CL E G H	129563	28648	OMIM:267000	Perlman syndrome	.		164
HP:0001197	HP:0009800	Maternal diabetes	2	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		22
HP:0001197	HP:0001561	Polyhydramnios	2	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040281 - Very frequent		1
HP:0001197	HP:0100767	Abnormal placenta morphology	2	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001197	HP:0001561	Polyhydramnios	2	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040281 - Very frequent		1
HP:0001197	HP:0100767	Abnormal placenta morphology	2	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0001197	HP:0001561	Polyhydramnios	2	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:0001197	HP:0100767	Abnormal placenta morphology	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001197	HP:0009800	Maternal diabetes	2	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		3
HP:0001197	HP:0034059	Abnormal fetal physiology	2	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0001197	HP:0001561	Polyhydramnios	2	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0001197	HP:0034059	Abnormal fetal physiology	2	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1			152
HP:0001197	HP:0001561	Polyhydramnios	2	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1	.		152
HP:0001197	HP:0034059	Abnormal fetal physiology	2	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome			41
HP:0001197	HP:0031456	Ectopic pregnancy	2	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		116
HP:0001197	HP:0031456	Ectopic pregnancy	2	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001197	HP:0031456	Ectopic pregnancy	2	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		78
HP:0001197	HP:0031456	Ectopic pregnancy	2	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		63
HP:0001197	HP:0031456	Ectopic pregnancy	2	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		27
HP:0001197	HP:0031456	Ectopic pregnancy	2	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		62
HP:0001197	HP:0031456	Ectopic pregnancy	2	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001197	HP:0031456	Ectopic pregnancy	2	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		21
HP:0001197	HP:0031456	Ectopic pregnancy	2	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		542
HP:0001197	HP:0031456	Ectopic pregnancy	2	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		527
HP:0001197	HP:0031456	Ectopic pregnancy	2	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		18
HP:0001197	HP:0031456	Ectopic pregnancy	2	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		73
HP:0001197	HP:0031456	Ectopic pregnancy	2	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		104
HP:0001197	HP:0031456	Ectopic pregnancy	2	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		2
HP:0001197	HP:0034058	Abnormal fetal morphology	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0001197	HP:0031456	Ectopic pregnancy	2	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		167
HP:0001197	HP:0034059	Abnormal fetal physiology	2	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			72
HP:0001197	HP:0034059	Abnormal fetal physiology	2	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0001197	HP:0034059	Abnormal fetal physiology	2	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0001197	HP:0001561	Polyhydramnios	2	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		167
HP:0001197	HP:0034059	Abnormal fetal physiology	2	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5			167
HP:0001197	HP:0001561	Polyhydramnios	2	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5	.		167
HP:0001197	HP:0034059	Abnormal fetal physiology	2	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0001197	HP:0001562	Oligohydramnios	2	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	.		18
HP:0001197	HP:0034058	Abnormal fetal morphology	2	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001197	HP:0034059	Abnormal fetal physiology	2	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0001197	HP:0001561	Polyhydramnios	2	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent		91
HP:0001197	HP:0034059	Abnormal fetal physiology	2	DOK7 CL E G H	285489	26594	OMIM:618389	FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3			91
HP:0001197	HP:0034059	Abnormal fetal physiology	2	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial			91
HP:0001197	HP:0001562	Oligohydramnios	2	DONSON CL E G H	29980	2993	OMIM:251230	Microcephaly-Micromelia syndrome	.		9
HP:0001197	HP:0034059	Abnormal fetal physiology	2	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0001197	HP:0034058	Abnormal fetal morphology	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001197	HP:0001561	Polyhydramnios	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001197	HP:0001562	Oligohydramnios	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001197	HP:0034059	Abnormal fetal physiology	2	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001197	HP:0001561	Polyhydramnios	2	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001197	HP:0001561	Polyhydramnios	2	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040283 - Occasional		26
HP:0001197	HP:0034058	Abnormal fetal morphology	2	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001197	HP:0034059	Abnormal fetal physiology	2	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001197	HP:0031456	Ectopic pregnancy	2	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		44
HP:0001197	HP:0001562	Oligohydramnios	2	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional		747
HP:0001197	HP:0001623	Breech presentation	2	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0001197	HP:0001561	Polyhydramnios	2	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0001197	HP:0001623	Breech presentation	2	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0001197	HP:0011437	Maternal autoimmune disease	2	DUOX2 CL E G H	50506	13273	ORPHA:226316	Genetic transient congenital hypothyroidism	HP:0040283 - Occasional		121
HP:0001197	HP:0034058	Abnormal fetal morphology	2	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			304
HP:0001197	HP:0001561	Polyhydramnios	2	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI	.
HP:0001197	HP:0034058	Abnormal fetal morphology	2	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0001197	HP:0034058	Abnormal fetal morphology	2	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0001197	HP:0001561	Polyhydramnios	2	DYNC2I2 CL E G H	89891	28296	OMIM:615633	Short-Rib thoracic dysplasia 11 with or without polydactyly	HP:0040283 - Occasional
HP:0001197	HP:0001561	Polyhydramnios	2	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	.		7
HP:0001197	HP:0001562	Oligohydramnios	2	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:0001197	HP:0001561	Polyhydramnios	2	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040284 - Very rare		134
HP:0001197	HP:0001562	Oligohydramnios	2	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040284 - Very rare		134
HP:0001197	HP:0001562	Oligohydramnios	2	DZIP1L CL E G H	199221	26551	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		4
HP:0001197	HP:0034059	Abnormal fetal physiology	2	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0001197	HP:0001562	Oligohydramnios	2	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0001197	HP:0001561	Polyhydramnios	2	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.		51
HP:0001197	HP:0034058	Abnormal fetal morphology	2	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome			51
HP:0001197	HP:0011412	Ventouse delivery	2	EEF1A2 CL E G H	1917	3192	OMIM:616393	Mental retardation, autosomal dominant 38			60
HP:0001197	HP:0034059	Abnormal fetal physiology	2	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			60
HP:0001197	HP:0001562	Oligohydramnios	2	EFEMP2 CL E G H	30008	3219	OMIM:614437	Cutis laxa, autosomal recessive, type IB	HP:0040283 - Occasional		45
HP:0001197	HP:0034058	Abnormal fetal morphology	2	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0001197	HP:0034058	Abnormal fetal morphology	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0001197	HP:0034058	Abnormal fetal morphology	2	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0001197	HP:0034058	Abnormal fetal morphology	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0001197	HP:0034059	Abnormal fetal physiology	2	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1			151
HP:0001197	HP:0034058	Abnormal fetal morphology	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0001197	HP:0001561	Polyhydramnios	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent		151
HP:0001197	HP:0200067	Recurrent spontaneous abortion	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		151
HP:0001197	HP:0034058	Abnormal fetal morphology	2	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum			151
HP:0001197	HP:0001561	Polyhydramnios	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001197	HP:0100603	Toxemia of pregnancy	2	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2			250
HP:0001197	HP:0001561	Polyhydramnios	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional		250
HP:0001197	HP:0034058	Abnormal fetal morphology	2	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis			6
HP:0001197	HP:0034058	Abnormal fetal morphology	2	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation			3
HP:0001197	HP:0034058	Abnormal fetal morphology	2	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7			3
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2			12
HP:0001197	HP:0001561	Polyhydramnios	2	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2	.		12
HP:0001197	HP:0001562	Oligohydramnios	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		158
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3			83
HP:0001197	HP:0001561	Polyhydramnios	2	ERF CL E G H	2077	3444	OMIM:617180	Chitayat syndrome			12
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0001197	HP:0001562	Oligohydramnios	2	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0001197	HP:0001623	Breech presentation	2	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0001197	HP:0001561	Polyhydramnios	2	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0001197	HP:0001561	Polyhydramnios	2	ESCO2 CL E G H	157570	27230	ORPHA:3103	Roberts syndrome	HP:0040283 - Occasional		92
HP:0001197	HP:0034059	Abnormal fetal physiology	2	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0001197	HP:0001562	Oligohydramnios	2	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0001197	HP:0001561	Polyhydramnios	2	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040283 - Occasional		102
HP:0001197	HP:0001561	Polyhydramnios	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0001197	HP:0200067	Recurrent spontaneous abortion	2	F12 CL E G H	2161	3530	ORPHA:330	Congenital factor XII deficiency	HP:0040283 - Occasional		28
HP:0001197	HP:0200067	Recurrent spontaneous abortion	2	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency	HP:0040283 - Occasional		60
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency			60
HP:0001197	HP:0200067	Recurrent spontaneous abortion	2	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency	HP:0040283 - Occasional		32
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency			32
HP:0001197	HP:0012541	Cephalohematoma	2	F2 CL E G H	2147	3535	ORPHA:325	Congenital factor II deficiency	HP:0040283 - Occasional		44
HP:0001197	HP:0200067	Recurrent spontaneous abortion	2	F2 CL E G H	2147	3535	OMIM:614390	Pregnancy loss, recurrent, susceptibility to, 2	.		44
HP:0001197	HP:0200067	Recurrent spontaneous abortion	2	F5 CL E G H	2153	3542	OMIM:614389	Pregnancy loss, recurrent, susceptibility to, 1	.		159
HP:0001197	HP:0100603	Toxemia of pregnancy	2	F5 CL E G H	2153	3542	OMIM:188055	Thrombophilia due to deficiency of activated protein C cofactor			159
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	F7 CL E G H	2155	3544	ORPHA:327	Congenital factor VII deficiency	HP:0040283 - Occasional		70
HP:0001197	HP:0012541	Cephalohematoma	2	F8 CL E G H	2157	3546	ORPHA:169802	Severe hemophilia A	HP:0040283 - Occasional		303
HP:0001197	HP:0001562	Oligohydramnios	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		340
HP:0001197	HP:0001562	Oligohydramnios	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		58
HP:0001197	HP:0034058	Abnormal fetal morphology	2	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0001197	HP:0034058	Abnormal fetal morphology	2	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked			58
HP:0001197	HP:0001561	Polyhydramnios	2	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked			58
HP:0001197	HP:0034058	Abnormal fetal morphology	2	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus			58
HP:0001197	HP:0001561	Polyhydramnios	2	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040281 - Very frequent		58
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus			58
HP:0001197	HP:0001562	Oligohydramnios	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		410
HP:0001197	HP:0001562	Oligohydramnios	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		147
HP:0001197	HP:0001562	Oligohydramnios	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0001197	HP:0001562	Oligohydramnios	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		87
HP:0001197	HP:0034058	Abnormal fetal morphology	2	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001197	HP:0001561	Polyhydramnios	2	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001197	HP:0100767	Abnormal placenta morphology	2	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001197	HP:0001562	Oligohydramnios	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0001197	HP:0001562	Oligohydramnios	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		157
HP:0001197	HP:0001562	Oligohydramnios	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		53
HP:0001197	HP:0001562	Oligohydramnios	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		107
HP:0001197	HP:0001562	Oligohydramnios	2	FARSA CL E G H	2193	3592	OMIM:619013	RAJAB INTERSTITIAL LUNG DISEASE WITH BRAIN CALCIFICATIONS 2; RILDBC2
HP:0001197	HP:0001562	Oligohydramnios	2	FARSB CL E G H	10056	17800	OMIM:613658	Rajab interstitial lung disease with brain calcifications
HP:0001197	HP:0034058	Abnormal fetal morphology	2	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome			59
HP:0001197	HP:0034058	Abnormal fetal morphology	2	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome			37
HP:0001197	HP:0034058	Abnormal fetal morphology	2	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0001197	HP:0001562	Oligohydramnios	2	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA	.		63
HP:0001197	HP:0001562	Oligohydramnios	2	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0001197	HP:0034059	Abnormal fetal physiology	2	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0001197	HP:0033335	Abnormal preimplantation embryonic development	2	FBXO43 CL E G H	286151	28521	OMIM:619697	OOCYTE MATURATION DEFECT 12; OOMD12
HP:0001197	HP:0009800	Maternal diabetes	2	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia	HP:0040283 - Occasional		5
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia			5
HP:0001197	HP:0100603	Toxemia of pregnancy	2	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0001197	HP:0011409	Abnormal placental membrane morphology	2	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome			136
HP:0001197	HP:0034059	Abnormal fetal physiology	2	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001197	HP:0034058	Abnormal fetal morphology	2	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0001197	HP:0034059	Abnormal fetal physiology	2	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001197	HP:0001562	Oligohydramnios	2	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent		2
HP:0001197	HP:0001563	Fetal polyuria	2	FGF20 CL E G H	26281	3677	ORPHA:1848	Renal agenesis, bilateral	HP:0040282 - Frequent		2
HP:0001197	HP:0009800	Maternal diabetes	2	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		17
HP:0001197	HP:0009800	Maternal diabetes	2	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		172
HP:0001197	HP:0009800	Maternal diabetes	2	FGFR1 CL E G H	2260	3688	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		172
HP:0001197	HP:0001561	Polyhydramnios	2	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0001197	HP:0001788	Premature rupture of membranes	2	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0001197	HP:0100767	Abnormal placenta morphology	2	FGFR3 CL E G H	2261	3690	OMIM:273300	Testicular tumor, somatic			145
HP:0001197	HP:0034058	Abnormal fetal morphology	2	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1			145
HP:0001197	HP:0001561	Polyhydramnios	2	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040282 - Frequent		145
HP:0001197	HP:0034058	Abnormal fetal morphology	2	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2			145
HP:0001197	HP:0001561	Polyhydramnios	2	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2	HP:0040282 - Frequent		145
HP:0001197	HP:0034058	Abnormal fetal morphology	2	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0001197	HP:0034059	Abnormal fetal physiology	2	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0001197	HP:0001561	Polyhydramnios	2	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.		145
HP:0001197	HP:0001623	Breech presentation	2	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0001197	HP:0030918	Low 1-minute APGAR score	2	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0001197	HP:0030919	Low 5-minute APGAR score	2	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0001197	HP:0034059	Abnormal fetal physiology	2	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II			145
HP:0001197	HP:0001561	Polyhydramnios	2	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II	.		145
HP:0001197	HP:0034059	Abnormal fetal physiology	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001197	HP:0034058	Abnormal fetal morphology	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001197	HP:0034058	Abnormal fetal morphology	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0001197	HP:0001561	Polyhydramnios	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0001197	HP:0001561	Polyhydramnios	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional		111
HP:0001197	HP:0034059	Abnormal fetal physiology	2	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0001197	HP:0001561	Polyhydramnios	2	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0001197	HP:0034058	Abnormal fetal morphology	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0001197	HP:0034059	Abnormal fetal physiology	2	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0001197	HP:0001561	Polyhydramnios	2	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040283 - Occasional		233
HP:0001197	HP:0001561	Polyhydramnios	2	FLNB CL E G H	2317	3755	ORPHA:56305	Atelosteogenesis type III	HP:0040283 - Occasional		233
HP:0001197	HP:0001561	Polyhydramnios	2	FLNB CL E G H	2317	3755	OMIM:108720	Atelosteogenesis, type I	.		233
HP:0001197	HP:0034058	Abnormal fetal morphology	2	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia			233
HP:0001197	HP:0001561	Polyhydramnios	2	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia	HP:0040282 - Frequent		233
HP:0001197	HP:0100767	Abnormal placenta morphology	2	FLT1 CL E G H	2321	3763	ORPHA:275555	Preeclampsia	HP:0040281 - Very frequent		11
HP:0001197	HP:0034058	Abnormal fetal morphology	2	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1			90
HP:0001197	HP:0001561	Polyhydramnios	2	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	.		47
HP:0001197	HP:0034058	Abnormal fetal morphology	2	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0001197	HP:0001561	Polyhydramnios	2	FOXE1 CL E G H	2304	3806	ORPHA:1226	Bamforth-Lazarus syndrome	HP:0040281 - Very frequent		9
HP:0001197	HP:0001561	Polyhydramnios	2	FOXE1 CL E G H	2304	3806	OMIM:241850	Hypothyroidism, athyroidal, with spiky hair and cleft palate	.		9
HP:0001197	HP:0034058	Abnormal fetal morphology	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001197	HP:0001561	Polyhydramnios	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001197	HP:0034058	Abnormal fetal morphology	2	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0001197	HP:0009800	Maternal diabetes	2	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		48
HP:0001197	HP:0031456	Ectopic pregnancy	2	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001197	HP:0034059	Abnormal fetal physiology	2	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0001197	HP:0001561	Polyhydramnios	2	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	.		3
HP:0001197	HP:0009800	Maternal diabetes	2	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence	HP:0040281 - Very frequent		3
HP:0001197	HP:0034059	Abnormal fetal physiology	2	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0001197	HP:0001562	Oligohydramnios	2	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0001197	HP:0001562	Oligohydramnios	2	FXR1 CL E G H	8087	4023	OMIM:618822	MYOPATHY, CONGENITAL, WITH RESPIRATORY INSUFFICIENCY AND BONE FRACTURES; MYORIBF
HP:0001197	HP:0034059	Abnormal fetal physiology	2	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0001197	HP:0034059	Abnormal fetal physiology	2	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0001197	HP:0034059	Abnormal fetal physiology	2	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			4
HP:0001197	HP:0034059	Abnormal fetal physiology	2	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0034059	Abnormal fetal physiology	2	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			44
HP:0001197	HP:0034059	Abnormal fetal physiology	2	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			139
HP:0001197	HP:0009800	Maternal diabetes	2	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		2
HP:0001197	HP:0031456	Ectopic pregnancy	2	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		1
HP:0001197	HP:0031456	Ectopic pregnancy	2	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		9
HP:0001197	HP:0034058	Abnormal fetal morphology	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0001197	HP:0034058	Abnormal fetal morphology	2	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0001197	HP:0034058	Abnormal fetal morphology	2	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001197	HP:0034058	Abnormal fetal morphology	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001197	HP:0034058	Abnormal fetal morphology	2	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0001197	HP:0001562	Oligohydramnios	2	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040283 - Occasional		37
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0001197	HP:0034058	Abnormal fetal morphology	2	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0001197	HP:0034058	Abnormal fetal morphology	2	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42			1
HP:0001197	HP:0034058	Abnormal fetal morphology	2	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0001197	HP:0034059	Abnormal fetal physiology	2	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0001197	HP:0034058	Abnormal fetal morphology	2	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0001197	HP:0034058	Abnormal fetal morphology	2	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0001197	HP:0034059	Abnormal fetal physiology	2	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0001197	HP:0001561	Polyhydramnios	2	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0001197	HP:0034058	Abnormal fetal morphology	2	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV			86
HP:0001197	HP:0034059	Abnormal fetal physiology	2	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV			86
HP:0001197	HP:0001561	Polyhydramnios	2	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV	.		86
HP:0001197	HP:0034059	Abnormal fetal physiology	2	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			128
HP:0001197	HP:0025700	Anhydramnios	2	GFRA1 CL E G H	2674	4243	OMIM:619887				1
HP:0001197	HP:0001562	Oligohydramnios	2	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent		1
HP:0001197	HP:0001563	Fetal polyuria	2	GFRA1 CL E G H	2674	4243	ORPHA:1848	Renal agenesis, bilateral	HP:0040282 - Frequent		1
HP:0001197	HP:0034059	Abnormal fetal physiology	2	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0001197	HP:0011409	Abnormal placental membrane morphology	2	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0001197	HP:0009800	Maternal diabetes	2	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional		68
HP:0001197	HP:0011409	Abnormal placental membrane morphology	2	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans			199
HP:0001197	HP:0011409	Abnormal placental membrane morphology	2	GJB2 CL E G H	2706	4284	OMIM:124500	VOHWINKEL SYNDROME; VOWNKL			199
HP:0001197	HP:0034058	Abnormal fetal morphology	2	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0001197	HP:0100767	Abnormal placenta morphology	2	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040283 - Occasional		120
HP:0001197	HP:0034058	Abnormal fetal morphology	2	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0001197	HP:0034059	Abnormal fetal physiology	2	GLDN CL E G H	342035	29514	OMIM:617194	Lethal congenital contracture syndrome 11			6
HP:0001197	HP:0001561	Polyhydramnios	2	GLDN CL E G H	342035	29514	OMIM:617194	Lethal congenital contracture syndrome 11	.		6
HP:0001197	HP:0034059	Abnormal fetal physiology	2	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0001197	HP:0001561	Polyhydramnios	2	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1	HP:0040282 - Frequent		45
HP:0001197	HP:0011409	Abnormal placental membrane morphology	2	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1			45
HP:0001197	HP:0009800	Maternal diabetes	2	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		173
HP:0001197	HP:0001562	Oligohydramnios	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040284 - Very rare		270
HP:0001197	HP:0034059	Abnormal fetal physiology	2	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2			46
HP:0001197	HP:0001562	Oligohydramnios	2	GMPPB CL E G H	29925	22932	OMIM:615350	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14	.		34
HP:0001197	HP:0034059	Abnormal fetal physiology	2	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14			34
HP:0001197	HP:0034058	Abnormal fetal morphology	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001197	HP:0034059	Abnormal fetal physiology	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001197	HP:0001562	Oligohydramnios	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001197	HP:0001562	Oligohydramnios	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional		240
HP:0001197	HP:0012541	Cephalohematoma	2	GP1BA CL E G H	2811	4439	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent		23
HP:0001197	HP:0001561	Polyhydramnios	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0001197	HP:0012541	Cephalohematoma	2	GP1BB CL E G H	2812	4440	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent		8
HP:0001197	HP:0001561	Polyhydramnios	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent		73
HP:0001197	HP:0001561	Polyhydramnios	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0001197	HP:0001561	Polyhydramnios	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0001197	HP:0001561	Polyhydramnios	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001197	HP:0034058	Abnormal fetal morphology	2	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia			99
HP:0001197	HP:0034059	Abnormal fetal physiology	2	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0001197	HP:0001562	Oligohydramnios	2	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent
HP:0001197	HP:0001563	Fetal polyuria	2	GREB1L CL E G H	80000	31042	ORPHA:1848	Renal agenesis, bilateral	HP:0040282 - Frequent
HP:0001197	HP:0034059	Abnormal fetal physiology	2	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001197	HP:0034058	Abnormal fetal morphology	2	GRIP1 CL E G H	23426	18708	OMIM:617667	Fraser syndrome 3			80
HP:0001197	HP:0001561	Polyhydramnios	2	GRM7 CL E G H	2917	4599	OMIM:618922	NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES; NEDSHBA			5
HP:0001197	HP:0034058	Abnormal fetal morphology	2	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia			126
HP:0001197	HP:0034058	Abnormal fetal morphology	2	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia			126
HP:0001197	HP:0034058	Abnormal fetal morphology	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0001197	HP:0034058	Abnormal fetal morphology	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0001197	HP:0034058	Abnormal fetal morphology	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0001197	HP:0034058	Abnormal fetal morphology	2	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7			54
HP:0001197	HP:0034058	Abnormal fetal morphology	2	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0001197	HP:0034058	Abnormal fetal morphology	2	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis			5
HP:0001197	HP:0034059	Abnormal fetal physiology	2	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			4
HP:0001197	HP:0001562	Oligohydramnios	2	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040282 - Frequent		4
HP:0001197	HP:0100767	Abnormal placenta morphology	2	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0001197	HP:0034059	Abnormal fetal physiology	2	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0001197	HP:0001623	Breech presentation	2	HACD1 CL E G H	9200	9639	OMIM:619967				2
HP:0001197	HP:0034059	Abnormal fetal physiology	2	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0001197	HP:0001561	Polyhydramnios	2	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0001197	HP:0034058	Abnormal fetal morphology	2	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0001197	HP:0034058	Abnormal fetal morphology	2	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0001197	HP:0034058	Abnormal fetal morphology	2	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis			200
HP:0001197	HP:0001561	Polyhydramnios	2	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040282 - Frequent		200
HP:0001197	HP:0001562	Oligohydramnios	2	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040282 - Frequent		200
HP:0001197	HP:0100603	Toxemia of pregnancy	2	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis			200
HP:0001197	HP:0034058	Abnormal fetal morphology	2	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis			88
HP:0001197	HP:0001561	Polyhydramnios	2	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040282 - Frequent		88
HP:0001197	HP:0001562	Oligohydramnios	2	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040282 - Frequent		88
HP:0001197	HP:0100603	Toxemia of pregnancy	2	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis			88
HP:0001197	HP:0034059	Abnormal fetal physiology	2	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			54
HP:0001197	HP:0034058	Abnormal fetal morphology	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0001197	HP:0034059	Abnormal fetal physiology	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0001197	HP:0100603	Toxemia of pregnancy	2	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome
HP:0001197	HP:0100767	Abnormal placenta morphology	2	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome
HP:0001197	HP:0034059	Abnormal fetal physiology	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0001197	HP:0001561	Polyhydramnios	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0001197	HP:0001562	Oligohydramnios	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0001197	HP:0001623	Breech presentation	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0001197	HP:0030918	Low 1-minute APGAR score	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0001197	HP:0030919	Low 5-minute APGAR score	2	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0001197	HP:0009800	Maternal diabetes	2	HESX1 CL E G H	8820	4877	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		21
HP:0001197	HP:0001561	Polyhydramnios	2	HIC1 CL E G H	3090	4909	ORPHA:531	Miller-Dieker syndrome	HP:0040282 - Frequent
HP:0001197	HP:0001561	Polyhydramnios	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0001197	HP:0034058	Abnormal fetal morphology	2	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency			148
HP:0001197	HP:0001562	Oligohydramnios	2	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent		2
HP:0001197	HP:0100767	Abnormal placenta morphology	2	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0001197	HP:0009800	Maternal diabetes	2	HNF1A CL E G H	6927	11621	ORPHA:324575	Hyperinsulinism due to HNF1A deficiency	HP:0040283 - Occasional		161
HP:0001197	HP:0001562	Oligohydramnios	2	HNF1B CL E G H	6928	11630	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional		90
HP:0001197	HP:0034058	Abnormal fetal morphology	2	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome			8
HP:0001197	HP:0034058	Abnormal fetal morphology	2	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0001197	HP:0034058	Abnormal fetal morphology	2	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0001197	HP:0034058	Abnormal fetal morphology	2	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association			25
HP:0001197	HP:0001561	Polyhydramnios	2	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040281 - Very frequent		25
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association			25
HP:0001197	HP:0034058	Abnormal fetal morphology	2	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0001197	HP:0001561	Polyhydramnios	2	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0001197	HP:0001561	Polyhydramnios	2	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040282 - Frequent		113
HP:0001197	HP:0001562	Oligohydramnios	2	HS2ST1 CL E G H	9653	5193	OMIM:619194	NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS; NFSRA
HP:0001197	HP:0034058	Abnormal fetal morphology	2	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0001197	HP:0001561	Polyhydramnios	2	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency	.		98
HP:0001197	HP:0001562	Oligohydramnios	2	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0001197	HP:0034058	Abnormal fetal morphology	2	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0001197	HP:0034058	Abnormal fetal morphology	2	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0001197	HP:0100767	Abnormal placenta morphology	2	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0001197	HP:0034059	Abnormal fetal physiology	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome			345
HP:0001197	HP:0001561	Polyhydramnios	2	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional		345
HP:0001197	HP:0200067	Recurrent spontaneous abortion	2	HTR1A CL E G H	3350	5286	OMIM:614674	Periodic fever, menstrual cycle-dependent	HP:0040283 - Occasional		2
HP:0001197	HP:0031456	Ectopic pregnancy	2	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		21
HP:0001197	HP:0001561	Polyhydramnios	2	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus	HP:0040281 - Very frequent		31
HP:0001197	HP:0001561	Polyhydramnios	2	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0001197	HP:0001562	Oligohydramnios	2	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0001197	HP:0100767	Abnormal placenta morphology	2	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040283 - Occasional
HP:0001197	HP:0009800	Maternal diabetes	2	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional
HP:0001197	HP:0001562	Oligohydramnios	2	IARS1 CL E G H	3376	5330	ORPHA:541423	Growth delay-intellectual disability-hepatopathy syndrome	HP:0040283 - Occasional
HP:0001197	HP:0001623	Breech presentation	2	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0001197	HP:0001561	Polyhydramnios	2	IBA57 CL E G H	200205	27302	OMIM:615330	Multiple mitochondrial dysfunctions syndrome 3	.		16
HP:0001197	HP:0001562	Oligohydramnios	2	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0001197	HP:0034058	Abnormal fetal morphology	2	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			65
HP:0001197	HP:0100767	Abnormal placenta morphology	2	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0001197	HP:0100767	Abnormal placenta morphology	2	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0001197	HP:0034059	Abnormal fetal physiology	2	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			9
HP:0001197	HP:0001562	Oligohydramnios	2	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040282 - Frequent		9
HP:0001197	HP:0001562	Oligohydramnios	2	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent		9
HP:0001197	HP:0100767	Abnormal placenta morphology	2	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0001197	HP:0034059	Abnormal fetal physiology	2	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0001197	HP:0034059	Abnormal fetal physiology	2	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13			8
HP:0001197	HP:0001561	Polyhydramnios	2	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13			8
HP:0001197	HP:0034059	Abnormal fetal physiology	2	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0001197	HP:0034059	Abnormal fetal physiology	2	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0001197	HP:0034058	Abnormal fetal morphology	2	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome			48
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0001197	HP:0034058	Abnormal fetal morphology	2	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome			94
HP:0001197	HP:0001561	Polyhydramnios	2	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA	.		18
HP:0001197	HP:0001562	Oligohydramnios	2	INPPL1 CL E G H	3636	6080	OMIM:258480	OPSISMODYSPLASIA			18
HP:0001197	HP:0001561	Polyhydramnios	2	INPPL1 CL E G H	3636	6080	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent		18
HP:0001197	HP:0001562	Oligohydramnios	2	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	.		106
HP:0001197	HP:0034059	Abnormal fetal physiology	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001197	HP:0001561	Polyhydramnios	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001197	HP:0034059	Abnormal fetal physiology	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001561	Polyhydramnios	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001562	Oligohydramnios	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001623	Breech presentation	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0030918	Low 1-minute APGAR score	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0030919	Low 5-minute APGAR score	2	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0034059	Abnormal fetal physiology	2	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0001197	HP:0001561	Polyhydramnios	2	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		99
HP:0001197	HP:0031437	Pregnancy exposure	2	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip			99
HP:0001197	HP:0012541	Cephalohematoma	2	ITGA2 CL E G H	3673	6137	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent		119
HP:0001197	HP:0012541	Cephalohematoma	2	ITGA2B CL E G H	3674	6138	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent		69
HP:0001197	HP:0001561	Polyhydramnios	2	ITGA6 CL E G H	3655	6142	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent		79
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0001197	HP:0001561	Polyhydramnios	2	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0001197	HP:0001562	Oligohydramnios	2	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent		4
HP:0001197	HP:0001563	Fetal polyuria	2	ITGA8 CL E G H	8516	6144	ORPHA:1848	Renal agenesis, bilateral	HP:0040282 - Frequent		4
HP:0001197	HP:0001562	Oligohydramnios	2	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1	.		4
HP:0001197	HP:0025700	Anhydramnios	2	ITGA8 CL E G H	8516	6144	OMIM:191830	Renal hypodysplasia/aplasia 1			4
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I			114
HP:0001197	HP:0012541	Cephalohematoma	2	ITGB3 CL E G H	3690	6156	ORPHA:853	Fetal and neonatal alloimmune thrombocytopenia	HP:0040282 - Frequent		80
HP:0001197	HP:0001561	Polyhydramnios	2	ITGB4 CL E G H	3691	6158	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		124
HP:0001197	HP:0001561	Polyhydramnios	2	ITGB4 CL E G H	3691	6158	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		124
HP:0001197	HP:0001561	Polyhydramnios	2	ITGB4 CL E G H	3691	6158	ORPHA:79403	Junctional epidermolysis bullosa with pyloric atresia	HP:0040282 - Frequent		124
HP:0001197	HP:0001561	Polyhydramnios	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0001197	HP:0001562	Oligohydramnios	2	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional		222
HP:0001197	HP:0011409	Abnormal placental membrane morphology	2	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair			1
HP:0001197	HP:0034058	Abnormal fetal morphology	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0001197	HP:0034058	Abnormal fetal morphology	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0001197	HP:0001561	Polyhydramnios	2	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent		141
HP:0001197	HP:0001561	Polyhydramnios	2	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.		141
HP:0001197	HP:0034059	Abnormal fetal physiology	2	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0001197	HP:0001561	Polyhydramnios	2	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		80
HP:0001197	HP:0001623	Breech presentation	2	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		80
HP:0001197	HP:0034059	Abnormal fetal physiology	2	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0001197	HP:0034059	Abnormal fetal physiology	2	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			65
HP:0001197	HP:0001561	Polyhydramnios	2	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.		51
HP:0001197	HP:0001563	Fetal polyuria	2	KCNJ1 CL E G H	3758	6255	OMIM:241200	Bartter syndrome, antenatal, type 2	.		51
HP:0001197	HP:0009800	Maternal diabetes	2	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040283 - Occasional		127
HP:0001197	HP:0009800	Maternal diabetes	2	KCNJ11 CL E G H	3767	6257	OMIM:610582	Diabetes mellitus, transient neonatal, 3	.		127
HP:0001197	HP:0009800	Maternal diabetes	2	KCNJ11 CL E G H	3767	6257	OMIM:616329	Maturity-onset diabetes of the young, type 13	.		127
HP:0001197	HP:0009800	Maternal diabetes	2	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional		127
HP:0001197	HP:0001561	Polyhydramnios	2	KCNJ6 CL E G H	3763	6267	ORPHA:435628	Keppen-Lubinsky syndrome	HP:0040282 - Frequent		3
HP:0001197	HP:0100767	Abnormal placenta morphology	2	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0001197	HP:0100767	Abnormal placenta morphology	2	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0001197	HP:0034059	Abnormal fetal physiology	2	KCNQ5 CL E G H	56479	6299	OMIM:617601	Mental retardation, autosomal dominant 46			5
HP:0001197	HP:0001561	Polyhydramnios	2	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0001197	HP:0001623	Breech presentation	2	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0001197	HP:0032192	Hydatidiform mole	2	KHDC3L CL E G H	154288	33699	OMIM:614293	HYDATIDIFORM MOLE, RECURRENT, 2; HYDM2			5
HP:0001197	HP:0034058	Abnormal fetal morphology	2	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly			24
HP:0001197	HP:0001561	Polyhydramnios	2	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.		24
HP:0001197	HP:0001561	Polyhydramnios	2	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO			4
HP:0001197	HP:0001561	Polyhydramnios	2	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	HP:0040283 - Occasional		4
HP:0001197	HP:0001562	Oligohydramnios	2	KIF14 CL E G H	9928	19181	OMIM:616258	Meckel syndrome 12	.		9
HP:0001197	HP:0034058	Abnormal fetal morphology	2	KIF20A CL E G H	10112	9787	OMIM:619433	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0001197	HP:0034059	Abnormal fetal physiology	2	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0001197	HP:0001561	Polyhydramnios	2	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus	HP:0040281 - Very frequent		167
HP:0001197	HP:0100767	Abnormal placenta morphology	2	KIT CL E G H	3815	6342	OMIM:273300	Testicular tumor, somatic			327
HP:0001197	HP:0034058	Abnormal fetal morphology	2	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0001197	HP:0034059	Abnormal fetal physiology	2	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8			28
HP:0001197	HP:0001561	Polyhydramnios	2	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8			28
HP:0001197	HP:0034059	Abnormal fetal physiology	2	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy			28
HP:0001197	HP:0001561	Polyhydramnios	2	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		28
HP:0001197	HP:0001623	Breech presentation	2	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		28
HP:0001197	HP:0034059	Abnormal fetal physiology	2	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0001197	HP:0001561	Polyhydramnios	2	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		13
HP:0001197	HP:0001623	Breech presentation	2	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		13
HP:0001197	HP:0034059	Abnormal fetal physiology	2	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy			13
HP:0001197	HP:0001561	Polyhydramnios	2	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		13
HP:0001197	HP:0034059	Abnormal fetal physiology	2	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9			13
HP:0001197	HP:0001623	Breech presentation	2	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9	HP:0040283 - Occasional		13
HP:0001197	HP:0034059	Abnormal fetal physiology	2	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy			13
HP:0001197	HP:0001561	Polyhydramnios	2	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		13
HP:0001197	HP:0001623	Breech presentation	2	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		13
HP:0001197	HP:0001561	Polyhydramnios	2	KLHL41 CL E G H	10324	16905	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		13
HP:0001197	HP:0034058	Abnormal fetal morphology	2	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0001197	HP:0001561	Polyhydramnios	2	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0001197	HP:0001561	Polyhydramnios	2	KRAS CL E G H	3845	6407	ORPHA:3339	Toriello-Lacassie-Droste syndrome	HP:0040282 - Frequent		196
HP:0001197	HP:0034058	Abnormal fetal morphology	2	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0001197	HP:0001562	Oligohydramnios	2	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome			92
HP:0001197	HP:0001562	Oligohydramnios	2	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia	.		54
HP:0001197	HP:0034058	Abnormal fetal morphology	2	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0001197	HP:0001561	Polyhydramnios	2	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0001197	HP:0100603	Toxemia of pregnancy	2	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia			70
HP:0001197	HP:0100603	Toxemia of pregnancy	2	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0001197	HP:0100767	Abnormal placenta morphology	2	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0001197	HP:0001788	Premature rupture of membranes	2	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0001197	HP:0034059	Abnormal fetal physiology	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001197	HP:0034059	Abnormal fetal physiology	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0001197	HP:0034059	Abnormal fetal physiology	2	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect			6
HP:0001197	HP:0001562	Oligohydramnios	2	LHX1 CL E G H	3975	6593	ORPHA:261265	17q12 microdeletion syndrome	HP:0040283 - Occasional
HP:0001197	HP:0001562	Oligohydramnios	2	LIFR CL E G H	3977	6597	ORPHA:3206	Stüve-Wiedemann syndrome	HP:0040282 - Frequent		144
HP:0001197	HP:0001562	Oligohydramnios	2	LIFR CL E G H	3977	6597	OMIM:601559	Stuve-Wiedemann syndrome			144
HP:0001197	HP:0034058	Abnormal fetal morphology	2	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome			88
HP:0001197	HP:0034058	Abnormal fetal morphology	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0001197	HP:0034059	Abnormal fetal physiology	2	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation			645
HP:0001197	HP:0100603	Toxemia of pregnancy	2	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type			645
HP:0001197	HP:0034059	Abnormal fetal physiology	2	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related			645
HP:0001197	HP:0034059	Abnormal fetal physiology	2	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0001197	HP:0001561	Polyhydramnios	2	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		645
HP:0001197	HP:0100767	Abnormal placenta morphology	2	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0001197	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	2	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		645
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0001197	HP:0034059	Abnormal fetal physiology	2	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2			645
HP:0001197	HP:0001561	Polyhydramnios	2	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040282 - Frequent
HP:0001197	HP:0001561	Polyhydramnios	2	LMOD1 CL E G H	25802	6647	OMIM:619362	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 3; MMIHS3
HP:0001197	HP:0034059	Abnormal fetal physiology	2	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10			11
HP:0001197	HP:0001561	Polyhydramnios	2	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10	.		11
HP:0001197	HP:0034059	Abnormal fetal physiology	2	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy			11
HP:0001197	HP:0001561	Polyhydramnios	2	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		11
HP:0001197	HP:0001623	Breech presentation	2	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		11
HP:0001197	HP:0001561	Polyhydramnios	2	LMOD3 CL E G H	56203	6649	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		11
HP:0001197	HP:0001561	Polyhydramnios	2	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome	.		8
HP:0001197	HP:0011409	Abnormal placental membrane morphology	2	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis
HP:0001197	HP:0031456	Ectopic pregnancy	2	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001197	HP:0001561	Polyhydramnios	2	LTBP3 CL E G H	4054	6716	OMIM:617809	Geleophysic dysplasia 3	HP:0040284 - Very rare		12
HP:0001197	HP:0034058	Abnormal fetal morphology	2	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0001197	HP:0034058	Abnormal fetal morphology	2	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0001197	HP:0034058	Abnormal fetal morphology	2	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0001197	HP:0001561	Polyhydramnios	2	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0001197	HP:0001562	Oligohydramnios	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1
HP:0001197	HP:0001561	Polyhydramnios	2	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0001197	HP:0001561	Polyhydramnios	2	MAFB CL E G H	9935	6408	ORPHA:2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	HP:0040283 - Occasional		63
HP:0001197	HP:0001561	Polyhydramnios	2	MAGED2 CL E G H	10916	16353	OMIM:300971	Bartter syndrome, type 5, antenatal, transient			6
HP:0001197	HP:0001563	Fetal polyuria	2	MAGED2 CL E G H	10916	16353	OMIM:300971	Bartter syndrome, type 5, antenatal, transient	.		6
HP:0001197	HP:0034059	Abnormal fetal physiology	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0001197	HP:0034059	Abnormal fetal physiology	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0001197	HP:0001561	Polyhydramnios	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0001197	HP:0001562	Oligohydramnios	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0001197	HP:0001623	Breech presentation	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0001197	HP:0030918	Low 1-minute APGAR score	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0001197	HP:0030919	Low 5-minute APGAR score	2	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0001197	HP:0034059	Abnormal fetal physiology	2	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			63
HP:0001197	HP:0034059	Abnormal fetal physiology	2	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0001197	HP:0034059	Abnormal fetal physiology	2	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0001197	HP:0034059	Abnormal fetal physiology	2	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0001197	HP:0034059	Abnormal fetal physiology	2	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0001197	HP:0001561	Polyhydramnios	2	MAMLD1 CL E G H	10046	2568	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent		5
HP:0001197	HP:0001561	Polyhydramnios	2	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0001197	HP:0034059	Abnormal fetal physiology	2	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0001197	HP:0001561	Polyhydramnios	2	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0001197	HP:0034059	Abnormal fetal physiology	2	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0001197	HP:0034058	Abnormal fetal morphology	2	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia			140
HP:0001197	HP:0034058	Abnormal fetal morphology	2	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia			140
HP:0001197	HP:0001562	Oligohydramnios	2	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.		22
HP:0001197	HP:0031456	Ectopic pregnancy	2	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		13
HP:0001197	HP:0034058	Abnormal fetal morphology	2	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001197	HP:0011410	Caesarian section	2	MCM4 CL E G H	4173	6947	OMIM:609981	Immunodeficiency 54			69
HP:0001197	HP:0034058	Abnormal fetal morphology	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0001197	HP:0030918	Low 1-minute APGAR score	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent		3
HP:0001197	HP:0034058	Abnormal fetal morphology	2	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0001197	HP:0001561	Polyhydramnios	2	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0001197	HP:0100767	Abnormal placenta morphology	2	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome			1
HP:0001197	HP:0034058	Abnormal fetal morphology	2	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2			4
HP:0001197	HP:0001788	Premature rupture of membranes	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0001197	HP:0001561	Polyhydramnios	2	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040281 - Very frequent		1
HP:0001197	HP:0100767	Abnormal placenta morphology	2	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001197	HP:0001561	Polyhydramnios	2	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040281 - Very frequent		1
HP:0001197	HP:0100767	Abnormal placenta morphology	2	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0001197	HP:0001561	Polyhydramnios	2	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:0001197	HP:0100767	Abnormal placenta morphology	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001197	HP:0034059	Abnormal fetal physiology	2	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset			158
HP:0001197	HP:0032192	Hydatidiform mole	2	MEI1 CL E G H	150365	28613	OMIM:618431	Hydatidiform mole, recurrent, 3	.
HP:0001197	HP:0034058	Abnormal fetal morphology	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0001197	HP:0034058	Abnormal fetal morphology	2	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0001197	HP:0034059	Abnormal fetal physiology	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0001197	HP:0001561	Polyhydramnios	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0001197	HP:0001562	Oligohydramnios	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0001197	HP:0001623	Breech presentation	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0001197	HP:0030918	Low 1-minute APGAR score	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0001197	HP:0030919	Low 5-minute APGAR score	2	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0001197	HP:0034059	Abnormal fetal physiology	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001561	Polyhydramnios	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001562	Oligohydramnios	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001623	Breech presentation	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0030918	Low 1-minute APGAR score	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0030919	Low 5-minute APGAR score	2	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001562	Oligohydramnios	2	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		127
HP:0001197	HP:0034058	Abnormal fetal morphology	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0001197	HP:0001562	Oligohydramnios	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.		127
HP:0001197	HP:0001623	Breech presentation	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.		127
HP:0001197	HP:0100767	Abnormal placenta morphology	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0001197	HP:0034058	Abnormal fetal morphology	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0001197	HP:0034058	Abnormal fetal morphology	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0001197	HP:0031437	Pregnancy exposure	2	MME CL E G H	4311	7154	ORPHA:69063	Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization	HP:0040281 - Very frequent		18
HP:0001197	HP:0001561	Polyhydramnios	2	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional		37
HP:0001197	HP:0034059	Abnormal fetal physiology	2	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2			134
HP:0001197	HP:0034058	Abnormal fetal morphology	2	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0001197	HP:0034058	Abnormal fetal morphology	2	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2			60
HP:0001197	HP:0001561	Polyhydramnios	2	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		12
HP:0001197	HP:0031437	Pregnancy exposure	2	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip			12
HP:0001197	HP:0009800	Maternal diabetes	2	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly	HP:0040283 - Occasional		183
HP:0001197	HP:0030244	Maternal fever in pregnancy	2	MTHFR CL E G H	4524	7436	ORPHA:563609	Isolated anencephaly	HP:0040283 - Occasional		183
HP:0001197	HP:0001561	Polyhydramnios	2	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly	HP:0040282 - Frequent		183
HP:0001197	HP:0009800	Maternal diabetes	2	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly	HP:0040283 - Occasional		183
HP:0001197	HP:0030244	Maternal fever in pregnancy	2	MTHFR CL E G H	4524	7436	ORPHA:563612	Isolated exencephaly	HP:0040283 - Occasional		183
HP:0001197	HP:0034059	Abnormal fetal physiology	2	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0001197	HP:0001561	Polyhydramnios	2	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.		185
HP:0001197	HP:0011410	Caesarian section	2	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0001197	HP:0030918	Low 1-minute APGAR score	2	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0001197	HP:0030919	Low 5-minute APGAR score	2	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0001197	HP:0034059	Abnormal fetal physiology	2	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy			185
HP:0001197	HP:0001561	Polyhydramnios	2	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy			185
HP:0001197	HP:0001561	Polyhydramnios	2	MTM1 CL E G H	4534	7448	ORPHA:456328	X-linked myotubular myopathy-abnormal genitalia syndrome	HP:0040282 - Frequent		185
HP:0001197	HP:0034059	Abnormal fetal physiology	2	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0001197	HP:0001561	Polyhydramnios	2	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		7
HP:0001197	HP:0034059	Abnormal fetal physiology	2	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0001197	HP:0034059	Abnormal fetal physiology	2	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0001197	HP:0001561	Polyhydramnios	2	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent		72
HP:0001197	HP:0001561	Polyhydramnios	2	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.		72
HP:0001197	HP:0100767	Abnormal placenta morphology	2	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0001197	HP:0034059	Abnormal fetal physiology	2	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0001197	HP:0001561	Polyhydramnios	2	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.		35
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D			9
HP:0001197	HP:0034059	Abnormal fetal physiology	2	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0001197	HP:0001561	Polyhydramnios	2	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		19
HP:0001197	HP:0001561	Polyhydramnios	2	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040282 - Frequent		418
HP:0001197	HP:0001562	Oligohydramnios	2	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2			418
HP:0001197	HP:0034059	Abnormal fetal physiology	2	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0001197	HP:0001561	Polyhydramnios	2	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0001197	HP:0001562	Oligohydramnios	2	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0001197	HP:0001623	Breech presentation	2	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A	.		166
HP:0001197	HP:0034059	Abnormal fetal physiology	2	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome			166
HP:0001197	HP:0001561	Polyhydramnios	2	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040283 - Occasional		166
HP:0001197	HP:0001562	Oligohydramnios	2	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040283 - Occasional		166
HP:0001197	HP:0034058	Abnormal fetal morphology	2	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0001197	HP:0034059	Abnormal fetal physiology	2	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1269
HP:0001197	HP:0034059	Abnormal fetal physiology	2	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0001197	HP:0001561	Polyhydramnios	2	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0001197	HP:0034058	Abnormal fetal morphology	2	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0001197	HP:0034059	Abnormal fetal physiology	2	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0001197	HP:0001561	Polyhydramnios	2	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0001197	HP:0034058	Abnormal fetal morphology	2	MYL9 CL E G H	10398	15754	OMIM:619365	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0001197	HP:0001562	Oligohydramnios	2	MYL9 CL E G H	10398	15754	OMIM:619365	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0001197	HP:0001561	Polyhydramnios	2	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040282 - Frequent		326
HP:0001197	HP:0001562	Oligohydramnios	2	MYLK CL E G H	4638	7590	OMIM:249210	MOVED TO 155310			326
HP:0001197	HP:0034059	Abnormal fetal physiology	2	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome			5
HP:0001197	HP:0034059	Abnormal fetal physiology	2	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0001197	HP:0034059	Abnormal fetal physiology	2	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0001197	HP:0001561	Polyhydramnios	2	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare
HP:0001197	HP:0034059	Abnormal fetal physiology	2	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0001197	HP:0001561	Polyhydramnios	2	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent
HP:0001197	HP:0034059	Abnormal fetal physiology	2	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0001197	HP:0001561	Polyhydramnios	2	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0001197	HP:0034059	Abnormal fetal physiology	2	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0001197	HP:0001561	Polyhydramnios	2	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		217
HP:0001197	HP:0001623	Breech presentation	2	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		217
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001197	HP:0001562	Oligohydramnios	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001197	HP:0009800	Maternal diabetes	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome			48
HP:0001197	HP:0001561	Polyhydramnios	2	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040283 - Occasional		48
HP:0001197	HP:0001562	Oligohydramnios	2	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040283 - Occasional		48
HP:0001197	HP:0034058	Abnormal fetal morphology	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0001197	HP:0001562	Oligohydramnios	2	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0001197	HP:0034058	Abnormal fetal morphology	2	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0001197	HP:0001562	Oligohydramnios	2	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6			745
HP:0001197	HP:0001561	Polyhydramnios	2	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6			745
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0001197	HP:0001561	Polyhydramnios	2	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		745
HP:0001197	HP:0001623	Breech presentation	2	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		745
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy			745
HP:0001197	HP:0001561	Polyhydramnios	2	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		745
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0001197	HP:0001561	Polyhydramnios	2	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.		745
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy			745
HP:0001197	HP:0001561	Polyhydramnios	2	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		745
HP:0001197	HP:0001623	Breech presentation	2	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		745
HP:0001197	HP:0001561	Polyhydramnios	2	NEB CL E G H	4703	7720	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		745
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NECAP1 CL E G H	25977	24539	OMIM:615833	Epileptic encephalopathy, early infantile, 21			1
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001197	HP:0001561	Polyhydramnios	2	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		4
HP:0001197	HP:0031437	Pregnancy exposure	2	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip			4
HP:0001197	HP:0034058	Abnormal fetal morphology	2	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0001197	HP:0031456	Ectopic pregnancy	2	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001197	HP:0001562	Oligohydramnios	2	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	.		43
HP:0001197	HP:0034058	Abnormal fetal morphology	2	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0001197	HP:0001562	Oligohydramnios	2	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10	.		9
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0001197	HP:0034058	Abnormal fetal morphology	2	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0001197	HP:0034058	Abnormal fetal morphology	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0001197	HP:0009800	Maternal diabetes	2	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional		90
HP:0001197	HP:0032192	Hydatidiform mole	2	NLRP7 CL E G H	199713	22947	OMIM:231090	Hydatidiform mole, recurrent, 1	.		171
HP:0001197	HP:0031456	Ectopic pregnancy	2	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		50
HP:0001197	HP:0009800	Maternal diabetes	2	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		45
HP:0001197	HP:0100603	Toxemia of pregnancy	2	NOS3 CL E G H	4846	7876	OMIM:189800	Preeclampsia/eclampsia 1			8
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0001197	HP:0001561	Polyhydramnios	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0001197	HP:0001562	Oligohydramnios	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0001197	HP:0001623	Breech presentation	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0001197	HP:0030918	Low 1-minute APGAR score	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0001197	HP:0030919	Low 5-minute APGAR score	2	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0001197	HP:0034058	Abnormal fetal morphology	2	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1			258
HP:0001197	HP:0034058	Abnormal fetal morphology	2	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2			33
HP:0001197	HP:0001561	Polyhydramnios	2	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2			33
HP:0001197	HP:0001562	Oligohydramnios	2	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0001197	HP:0001561	Polyhydramnios	2	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome	HP:0040282 - Frequent		157
HP:0001197	HP:0001562	Oligohydramnios	2	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome	HP:0040282 - Frequent		157
HP:0001197	HP:0001562	Oligohydramnios	2	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.		157
HP:0001197	HP:0034058	Abnormal fetal morphology	2	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5			14
HP:0001197	HP:0100603	Toxemia of pregnancy	2	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy			14
HP:0001197	HP:0012420	Meconium stained amniotic fluid	2	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional		14
HP:0001197	HP:0100603	Toxemia of pregnancy	2	NR3C2 CL E G H	4306	7979	OMIM:605115	Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy			109
HP:0001197	HP:0034058	Abnormal fetal morphology	2	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0001197	HP:0034058	Abnormal fetal morphology	2	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0001197	HP:0001561	Polyhydramnios	2	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0001197	HP:0001561	Polyhydramnios	2	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0001197	HP:0034058	Abnormal fetal morphology	2	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			8
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0001197	HP:0001561	Polyhydramnios	2	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4
HP:0001197	HP:0001561	Polyhydramnios	2	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4	.
HP:0001197	HP:0034059	Abnormal fetal physiology	2	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001197	HP:0034059	Abnormal fetal physiology	2	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0001197	HP:0034059	Abnormal fetal physiology	2	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0001197	HP:0034059	Abnormal fetal physiology	2	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0001197	HP:0031456	Ectopic pregnancy	2	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001197	HP:0031456	Ectopic pregnancy	2	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001197	HP:0031456	Ectopic pregnancy	2	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001197	HP:0031456	Ectopic pregnancy	2	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0001197	HP:0001561	Polyhydramnios	2	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0001197	HP:0034058	Abnormal fetal morphology	2	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0001197	HP:0001561	Polyhydramnios	2	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:0001197	HP:0031456	Ectopic pregnancy	2	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		201
HP:0001197	HP:0034058	Abnormal fetal morphology	2	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0001197	HP:0001623	Breech presentation	2	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14			214
HP:0001197	HP:0011410	Caesarian section	2	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14			214
HP:0001197	HP:0001623	Breech presentation	2	ORC1 CL E G H	4998	8487	OMIM:224690	Meier-Gorlin syndrome 1	.		53
HP:0001197	HP:0001562	Oligohydramnios	2	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0001197	HP:0034059	Abnormal fetal physiology	2	OSTM1 CL E G H	28962	21652	ORPHA:85179	Infantile osteopetrosis with neuroaxonal dysplasia			73
HP:0001197	HP:0001561	Polyhydramnios	2	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001197	HP:0001561	Polyhydramnios	2	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent		41
HP:0001197	HP:0009800	Maternal diabetes	2	OTX2 CL E G H	5015	8522	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		41
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0001197	HP:0001561	Polyhydramnios	2	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040283 - Occasional		231
HP:0001197	HP:0001561	Polyhydramnios	2	PAFAH1B1 CL E G H	5048	8574	ORPHA:531	Miller-Dieker syndrome	HP:0040282 - Frequent		231
HP:0001197	HP:0001561	Polyhydramnios	2	PAICS CL E G H	10606	8587	OMIM:619859
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0001197	HP:0001562	Oligohydramnios	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1349
HP:0001197	HP:0034059	Abnormal fetal physiology	2	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			14
HP:0001197	HP:0001562	Oligohydramnios	2	PAX2 CL E G H	5076	8616	ORPHA:97362	Renal hypoplasia, bilateral			39
HP:0001197	HP:0034059	Abnormal fetal physiology	2	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0001197	HP:0001562	Oligohydramnios	2	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:0001197	HP:0001562	Oligohydramnios	2	PBX1 CL E G H	5087	8632	ORPHA:97362	Renal hypoplasia, bilateral			3
HP:0001197	HP:0001561	Polyhydramnios	2	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	HP:0040284 - Very rare
HP:0001197	HP:0001562	Oligohydramnios	2	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040283 - Occasional		54
HP:0001197	HP:0001562	Oligohydramnios	2	PDX1 CL E G H	3651	6107	OMIM:260370	Pancreatic agenesis, congenital			30
HP:0001197	HP:0001623	Breech presentation	2	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.		169
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0001197	HP:0034059	Abnormal fetal physiology	2	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0001197	HP:0034059	Abnormal fetal physiology	2	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)			47
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0001197	HP:0001562	Oligohydramnios	2	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0001197	HP:0001562	Oligohydramnios	2	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		20
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0001197	HP:0001561	Polyhydramnios	2	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70			1
HP:0001197	HP:0034059	Abnormal fetal physiology	2	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0001197	HP:0001561	Polyhydramnios	2	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.		37
HP:0001197	HP:0100767	Abnormal placenta morphology	2	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0001197	HP:0034059	Abnormal fetal physiology	2	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome			86
HP:0001197	HP:0001561	Polyhydramnios	2	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional		86
HP:0001197	HP:0001562	Oligohydramnios	2	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional		86
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0001197	HP:0001561	Polyhydramnios	2	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040282 - Frequent		11
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis			11
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0001197	HP:0001561	Polyhydramnios	2	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III	.		36
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0001197	HP:0034059	Abnormal fetal physiology	2	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0001197	HP:0001561	Polyhydramnios	2	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	HP:0040283 - Occasional		46
HP:0001197	HP:0001623	Breech presentation	2	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0001197	HP:0034059	Abnormal fetal physiology	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0001197	HP:0001562	Oligohydramnios	2	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		36
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0001197	HP:0001561	Polyhydramnios	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040282 - Frequent		37
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0001197	HP:0001561	Polyhydramnios	2	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.		37
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0001197	HP:0001562	Oligohydramnios	2	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		84
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0001197	HP:0001561	Polyhydramnios	2	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4			3
HP:0001197	HP:0034059	Abnormal fetal physiology	2	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0001197	HP:0001562	Oligohydramnios	2	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		57
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0001197	HP:0001562	Oligohydramnios	2	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		6
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0001197	HP:0001561	Polyhydramnios	2	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6	.		2
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0001197	HP:0001562	Oligohydramnios	2	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0001197	HP:0001562	Oligohydramnios	2	PKHD1 CL E G H	5314	9016	ORPHA:731	Autosomal recessive polycystic kidney disease	HP:0040282 - Frequent		563
HP:0001197	HP:0001562	Oligohydramnios	2	PKHD1 CL E G H	5314	9016	OMIM:263200	Polycystic kidney disease 4 with or without polycystic liver disease	.		563
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency			51
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0001197	HP:0001562	Oligohydramnios	2	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040282 - Frequent		3
HP:0001197	HP:0100767	Abnormal placenta morphology	2	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0001197	HP:0001562	Oligohydramnios	2	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0001197	HP:0100767	Abnormal placenta morphology	2	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040283 - Occasional
HP:0001197	HP:0009800	Maternal diabetes	2	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0001197	HP:0001561	Polyhydramnios	2	PLEC CL E G H	5339	9069	OMIM:612138	Epidermolysis bullosa simplex with pyloric atresia	.		759
HP:0001197	HP:0001561	Polyhydramnios	2	PLEC CL E G H	5339	9069	ORPHA:158684	Epidermolysis bullosa simplex with pyloric atresia	HP:0040283 - Occasional		759
HP:0001197	HP:0001561	Polyhydramnios	2	PLEC CL E G H	5339	9069	OMIM:226730	Epidermolysis bullosa, junctional, with pyloric atresia	.		759
HP:0001197	HP:0034059	Abnormal fetal physiology	2	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0001197	HP:0001788	Premature rupture of membranes	2	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.		105
HP:0001197	HP:0034059	Abnormal fetal physiology	2	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0001197	HP:0034059	Abnormal fetal physiology	2	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy			6
HP:0001197	HP:0012420	Meconium stained amniotic fluid	2	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional		6
HP:0001197	HP:0001561	Polyhydramnios	2	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0001197	HP:0034059	Abnormal fetal physiology	2	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0001197	HP:0011410	Caesarian section	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0001197	HP:0011409	Abnormal placental membrane morphology	2	POMP CL E G H	51371	20330	OMIM:601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma			2
HP:0001197	HP:0034058	Abnormal fetal morphology	2	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0001197	HP:0001562	Oligohydramnios	2	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.		76
HP:0001197	HP:0008072	Maternal virilization in pregnancy	2	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.		76
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0001197	HP:0011436	Abnormal maternal serum screening	2	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0001197	HP:0008072	Maternal virilization in pregnancy	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional		76
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0001197	HP:0100603	Toxemia of pregnancy	2	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3			42
HP:0001197	HP:0009800	Maternal diabetes	2	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.		42
HP:0001197	HP:0100603	Toxemia of pregnancy	2	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0001197	HP:0009800	Maternal diabetes	2	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional		42
HP:0001197	HP:0034059	Abnormal fetal physiology	2	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0001197	HP:0001561	Polyhydramnios	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0001197	HP:0034059	Abnormal fetal physiology	2	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001197	HP:0001561	Polyhydramnios	2	PRDM13 CL E G H	59336	13998	OMIM:619761	CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM; CDIDHH			2
HP:0001197	HP:0034059	Abnormal fetal physiology	2	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome			7
HP:0001197	HP:0034059	Abnormal fetal physiology	2	PREPL CL E G H	9581	30228	ORPHA:163690	Hypotonia-cystinuria syndrome			7
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome			10
HP:0001197	HP:0009800	Maternal diabetes	2	PROKR2 CL E G H	128674	15836	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		34
HP:0001197	HP:0030918	Low 1-minute APGAR score	2	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0001197	HP:0030919	Low 5-minute APGAR score	2	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome			49
HP:0001197	HP:0001561	Polyhydramnios	2	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent		4
HP:0001197	HP:0001561	Polyhydramnios	2	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex			4
HP:0001197	HP:0034059	Abnormal fetal physiology	2	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies			8
HP:0001197	HP:0034059	Abnormal fetal physiology	2	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2			27
HP:0001197	HP:0001561	Polyhydramnios	2	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2			27
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form			27
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia			241
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia			241
HP:0001197	HP:0011410	Caesarian section	2	PTCD3 CL E G H	55037	24717	OMIM:619057	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 51; COXPD51
HP:0001197	HP:0009800	Maternal diabetes	2	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		665
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia			58
HP:0001197	HP:0001561	Polyhydramnios	2	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040281 - Very frequent		58
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type			58
HP:0001197	HP:0001561	Polyhydramnios	2	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type	.		58
HP:0001197	HP:0034058	Abnormal fetal morphology	2	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0001197	HP:0001623	Breech presentation	2	PTPN23 CL E G H	25930	14406	OMIM:618890	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS			3
HP:0001197	HP:0034059	Abnormal fetal physiology	2	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0001197	HP:0001562	Oligohydramnios	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional		19
HP:0001197	HP:0034059	Abnormal fetal physiology	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001561	Polyhydramnios	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001562	Oligohydramnios	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001623	Breech presentation	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0030918	Low 1-minute APGAR score	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0030919	Low 5-minute APGAR score	2	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0034059	Abnormal fetal physiology	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001561	Polyhydramnios	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001562	Oligohydramnios	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001623	Breech presentation	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0030918	Low 1-minute APGAR score	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0030919	Low 5-minute APGAR score	2	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0034058	Abnormal fetal morphology	2	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0001197	HP:0034058	Abnormal fetal morphology	2	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME			9
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0001197	HP:0034059	Abnormal fetal physiology	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0001197	HP:0001562	Oligohydramnios	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		9
HP:0001197	HP:0001562	Oligohydramnios	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		391
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0001197	HP:0001561	Polyhydramnios	2	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome			127
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome			50
HP:0001197	HP:0034059	Abnormal fetal physiology	2	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0001197	HP:0034059	Abnormal fetal physiology	2	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0001197	HP:0001561	Polyhydramnios	2	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent		73
HP:0001197	HP:0034059	Abnormal fetal physiology	2	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2			73
HP:0001197	HP:0034059	Abnormal fetal physiology	2	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency			73
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation			88
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0001197	HP:0033335	Abnormal preimplantation embryonic development	2	REC114 CL E G H	283677	25065	OMIM:619176	OOCYTE MATURATION DEFECT 10; OOMD10
HP:0001197	HP:0001562	Oligohydramnios	2	REN CL E G H	5972	9958	OMIM:267430	Renal tubular dysgenesis	.		25
HP:0001197	HP:0034059	Abnormal fetal physiology	2	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome			572
HP:0001197	HP:0001561	Polyhydramnios	2	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional		572
HP:0001197	HP:0001562	Oligohydramnios	2	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional		572
HP:0001197	HP:0001562	Oligohydramnios	2	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent		572
HP:0001197	HP:0001563	Fetal polyuria	2	RET CL E G H	5979	9967	ORPHA:1848	Renal agenesis, bilateral	HP:0040282 - Frequent		572
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0001197	HP:0001562	Oligohydramnios	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0001197	HP:0001562	Oligohydramnios	2	RHAG CL E G H	6005	10006	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional		13
HP:0001197	HP:0001562	Oligohydramnios	2	RHCE CL E G H	6006	10008	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional		8
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced			16
HP:0001197	HP:0001561	Polyhydramnios	2	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced		HP:0030674 - Antenatal onset	16
HP:0001197	HP:0001562	Oligohydramnios	2	RHD CL E G H	6007	10009	ORPHA:71275	Rh deficiency syndrome	HP:0040283 - Occasional		16
HP:0001197	HP:0034059	Abnormal fetal physiology	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0001197	HP:0001561	Polyhydramnios	2	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0001197	HP:0001623	Breech presentation	2	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia			37
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome			37
HP:0001197	HP:0011436	Abnormal maternal serum screening	2	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy
HP:0001197	HP:0001562	Oligohydramnios	2	RNF2 CL E G H	6045	10061	OMIM:619460	LUO-SCHOCH-YAMAMOTO SYNDROME; LUSYAM
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0001197	HP:0001562	Oligohydramnios	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0001197	HP:0001623	Breech presentation	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0001197	HP:0031456	Ectopic pregnancy	2	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		200
HP:0001197	HP:0001562	Oligohydramnios	2	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		109
HP:0001197	HP:0001562	Oligohydramnios	2	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		167
HP:0001197	HP:0001561	Polyhydramnios	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0001197	HP:0001561	Polyhydramnios	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional		10
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001197	HP:0034059	Abnormal fetal physiology	2	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0001197	HP:0001561	Polyhydramnios	2	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.		22
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0001197	HP:0001561	Polyhydramnios	2	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0001197	HP:0001561	Polyhydramnios	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001197	HP:0031456	Ectopic pregnancy	2	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		31
HP:0001197	HP:0031456	Ectopic pregnancy	2	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		5
HP:0001197	HP:0031456	Ectopic pregnancy	2	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		58
HP:0001197	HP:0031456	Ectopic pregnancy	2	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		20
HP:0001197	HP:0001561	Polyhydramnios	2	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040281 - Very frequent
HP:0001197	HP:0001561	Polyhydramnios	2	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040281 - Very frequent
HP:0001197	HP:0100767	Abnormal placenta morphology	2	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0001197	HP:0001561	Polyhydramnios	2	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040281 - Very frequent
HP:0001197	HP:0100767	Abnormal placenta morphology	2	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0001197	HP:0001561	Polyhydramnios	2	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:0001197	HP:0100767	Abnormal placenta morphology	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0001197	HP:0034059	Abnormal fetal physiology	2	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0001197	HP:0001561	Polyhydramnios	2	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		1200
HP:0001197	HP:0034059	Abnormal fetal physiology	2	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease			1200
HP:0001197	HP:0034059	Abnormal fetal physiology	2	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia			1200
HP:0001197	HP:0001561	Polyhydramnios	2	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040283 - Occasional		1200
HP:0001197	HP:0034059	Abnormal fetal physiology	2	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0001197	HP:0001623	Breech presentation	2	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0001197	HP:0034058	Abnormal fetal morphology	2	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0001197	HP:0034059	Abnormal fetal physiology	2	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0001197	HP:0001561	Polyhydramnios	2	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.		1200
HP:0001197	HP:0034059	Abnormal fetal physiology	2	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1200
HP:0001197	HP:0001562	Oligohydramnios	2	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001197	HP:0011410	Caesarian section	2	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001197	HP:0011412	Ventouse delivery	2	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001197	HP:0034058	Abnormal fetal morphology	2	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			70
HP:0001197	HP:0034058	Abnormal fetal morphology	2	SCN5A CL E G H	6331	10593	OMIM:603830	Long QT syndrome 3			1134
HP:0001197	HP:0001561	Polyhydramnios	2	SCN8A CL E G H	6334	10596	OMIM:614306	Cognitive impairment with or without cerebellar ataxia			357
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			357
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0001197	HP:0001561	Polyhydramnios	2	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0001197	HP:0001562	Oligohydramnios	2	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0001197	HP:0001623	Breech presentation	2	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0001197	HP:0001561	Polyhydramnios	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001197	HP:0001562	Oligohydramnios	2	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2	.		5
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0001197	HP:0001561	Polyhydramnios	2	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			144
HP:0001197	HP:0001561	Polyhydramnios	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		16
HP:0001197	HP:0200067	Recurrent spontaneous abortion	2	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040283 - Occasional		88
HP:0001197	HP:0031437	Pregnancy exposure	2	SERPINC1 CL E G H	462	775	ORPHA:82	Hereditary thrombophilia due to congenital antithrombin deficiency	HP:0040282 - Frequent		88
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency			39
HP:0001197	HP:0001788	Premature rupture of membranes	2	SERPINH1 CL E G H	871	1546	OMIM:610504	Preterm premature rupture of the membranes	.		52
HP:0001197	HP:0001562	Oligohydramnios	2	SETD1A CL E G H	9739	29010	OMIM:619056	NEURODEVELOPMENTAL DISORDER WITH SPEECH IMPAIRMENT AND DYSMORPHIC FACIES; NEDSID			6
HP:0001197	HP:0009800	Maternal diabetes	2	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		67
HP:0001197	HP:0001561	Polyhydramnios	2	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0001197	HP:0001623	Breech presentation	2	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent		2
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0001197	HP:0001561	Polyhydramnios	2	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome			9
HP:0001197	HP:0009800	Maternal diabetes	2	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		32
HP:0001197	HP:0001561	Polyhydramnios	2	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0001197	HP:0100767	Abnormal placenta morphology	2	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0001197	HP:0001561	Polyhydramnios	2	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.		75
HP:0001197	HP:0001563	Fetal polyuria	2	SLC12A1 CL E G H	6557	10910	OMIM:601678	Bartter syndrome, type 1, antenatal	.		75
HP:0001197	HP:0009800	Maternal diabetes	2	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		145
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			73
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0001197	HP:0001561	Polyhydramnios	2	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040284 - Very rare		57
HP:0001197	HP:0034058	Abnormal fetal morphology	2	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease			78
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0001197	HP:0001561	Polyhydramnios	2	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent		2
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001197	HP:0001561	Polyhydramnios	2	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0001197	HP:0001561	Polyhydramnios	2	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		28
HP:0001197	HP:0001561	Polyhydramnios	2	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly			36
HP:0001197	HP:0100603	Toxemia of pregnancy	2	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency			40
HP:0001197	HP:0001562	Oligohydramnios	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28			5
HP:0001197	HP:0001561	Polyhydramnios	2	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28			5
HP:0001197	HP:0001561	Polyhydramnios	2	SLC25A46 CL E G H	91137	25198	OMIM:619303	PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E			14
HP:0001197	HP:0034058	Abnormal fetal morphology	2	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B			166
HP:0001197	HP:0001561	Polyhydramnios	2	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B	HP:0040282 - Frequent		166
HP:0001197	HP:0034058	Abnormal fetal morphology	2	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB			166
HP:0001197	HP:0001561	Polyhydramnios	2	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.		166
HP:0001197	HP:0001623	Breech presentation	2	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.		166
HP:0001197	HP:0001561	Polyhydramnios	2	SLC26A2 CL E G H	1836	10994	ORPHA:56304	Atelosteogenesis type II	HP:0040283 - Occasional		166
HP:0001197	HP:0001561	Polyhydramnios	2	SLC26A3 CL E G H	1811	3018	OMIM:214700	Diarrhea 1, secretory chloride, congenital	.		89
HP:0001197	HP:0034058	Abnormal fetal morphology	2	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS			26
HP:0001197	HP:0001561	Polyhydramnios	2	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS			26
HP:0001197	HP:0034058	Abnormal fetal morphology	2	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome			26
HP:0001197	HP:0034058	Abnormal fetal morphology	2	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0001197	HP:0001562	Oligohydramnios	2	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0001197	HP:0034058	Abnormal fetal morphology	2	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0001197	HP:0034058	Abnormal fetal morphology	2	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0001197	HP:0001561	Polyhydramnios	2	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia	.		9
HP:0001197	HP:0001561	Polyhydramnios	2	SLC35D1 CL E G H	23169	20800	ORPHA:3144	Schneckenbecken dysplasia	HP:0040281 - Very frequent		9
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome			55
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SLC3A1 CL E G H	6519	11025	ORPHA:163690	Hypotonia-cystinuria syndrome			55
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0001197	HP:0001561	Polyhydramnios	2	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		9
HP:0001197	HP:0011412	Ventouse delivery	2	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3			81
HP:0001197	HP:0012420	Meconium stained amniotic fluid	2	SLC6A5 CL E G H	9152	11051	OMIM:614618	Hyperekplexia 3			81
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0001197	HP:0001561	Polyhydramnios	2	SLC9A3 CL E G H	6550	11073	OMIM:616868	Diarrhea 8, secretory sodium, congenital			7
HP:0001197	HP:0001562	Oligohydramnios	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		274
HP:0001197	HP:0011409	Abnormal placental membrane morphology	2	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome			6
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0001197	HP:0034058	Abnormal fetal morphology	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0001197	HP:0034058	Abnormal fetal morphology	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0001197	HP:0001561	Polyhydramnios	2	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I			22
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18			2
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001197	HP:0001561	Polyhydramnios	2	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001561	Polyhydramnios	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001562	Oligohydramnios	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001623	Breech presentation	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0030918	Low 1-minute APGAR score	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0030919	Low 5-minute APGAR score	2	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001561	Polyhydramnios	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001562	Oligohydramnios	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001623	Breech presentation	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0030918	Low 1-minute APGAR score	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0030919	Low 5-minute APGAR score	2	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001561	Polyhydramnios	2	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.		6
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			37
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0001197	HP:0001562	Oligohydramnios	2	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0001197	HP:0001561	Polyhydramnios	2	SOD1 CL E G H	6647	11179	OMIM:618598	SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE; STAHP			53
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0001197	HP:0001623	Breech presentation	2	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0001197	HP:0034058	Abnormal fetal morphology	2	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0001197	HP:0001561	Polyhydramnios	2	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0001197	HP:0034058	Abnormal fetal morphology	2	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0001197	HP:0001561	Polyhydramnios	2	SOX17 CL E G H	64321	18122	OMIM:613674	Vesicoureteral reflux 3	.		3
HP:0001197	HP:0034058	Abnormal fetal morphology	2	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome			7
HP:0001197	HP:0034058	Abnormal fetal morphology	2	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome			7
HP:0001197	HP:0034058	Abnormal fetal morphology	2	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome			7
HP:0001197	HP:0009800	Maternal diabetes	2	SOX2 CL E G H	6657	11195	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		33
HP:0001197	HP:0009800	Maternal diabetes	2	SOX3 CL E G H	6658	11199	ORPHA:3157	Septo-optic dysplasia spectrum	HP:0040283 - Occasional		24
HP:0001197	HP:0001561	Polyhydramnios	2	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.		109
HP:0001197	HP:0031456	Ectopic pregnancy	2	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		45
HP:0001197	HP:0034058	Abnormal fetal morphology	2	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0001197	HP:0031456	Ectopic pregnancy	2	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		15
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0001197	HP:0009800	Maternal diabetes	2	SPINK1 CL E G H	6690	11244	ORPHA:103918	Tropical pancreatitis			34
HP:0001197	HP:0001561	Polyhydramnios	2	SPINT2 CL E G H	10653	11247	OMIM:270420	Diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies	.		6
HP:0001197	HP:0001561	Polyhydramnios	2	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0001197	HP:0034058	Abnormal fetal morphology	2	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0001197	HP:0001561	Polyhydramnios	2	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0001197	HP:0034058	Abnormal fetal morphology	2	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis			228
HP:0001197	HP:0034058	Abnormal fetal morphology	2	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis			156
HP:0001197	HP:0100603	Toxemia of pregnancy	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001197	HP:0100767	Abnormal placenta morphology	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001197	HP:0012498	Nuchal cord	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001197	HP:0034058	Abnormal fetal morphology	2	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia			62
HP:0001197	HP:0034058	Abnormal fetal morphology	2	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0001197	HP:0100767	Abnormal placenta morphology	2	STK11 CL E G H	6794	11389	OMIM:273300	Testicular tumor, somatic			740
HP:0001197	HP:0031456	Ectopic pregnancy	2	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		3
HP:0001197	HP:0100767	Abnormal placenta morphology	2	STOX1 CL E G H	219736	23508	ORPHA:275555	Preeclampsia	HP:0040281 - Very frequent		2
HP:0001197	HP:0100603	Toxemia of pregnancy	2	STOX1 CL E G H	219736	23508	OMIM:609404	Preeclampsia/eclampsia 4			2
HP:0001197	HP:0001561	Polyhydramnios	2	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0001197	HP:0001561	Polyhydramnios	2	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	HP:0040281 - Very frequent		6
HP:0001197	HP:0034058	Abnormal fetal morphology	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0001197	HP:0009800	Maternal diabetes	2	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		124
HP:0001197	HP:0200067	Recurrent spontaneous abortion	2	SYCP3 CL E G H	50511	18130	OMIM:270960	Spermatogenic failure 4	.		12
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type			1129
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			108
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			9
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0001197	HP:0001561	Polyhydramnios	2	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		4
HP:0001197	HP:0034059	Abnormal fetal physiology	2	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			123
HP:0001197	HP:0011410	Caesarian section	2	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33			21
HP:0001197	HP:0034058	Abnormal fetal morphology	2	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency			34
HP:0001197	HP:0001562	Oligohydramnios	2	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.		34
HP:0001197	HP:0011410	Caesarian section	2	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0001197	HP:0034058	Abnormal fetal morphology	2	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0001197	HP:0001561	Polyhydramnios	2	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0001197	HP:0034058	Abnormal fetal morphology	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0001197	HP:0034058	Abnormal fetal morphology	2	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0001197	HP:0001561	Polyhydramnios	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent		271
HP:0001197	HP:0011409	Abnormal placental membrane morphology	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare		271
HP:0001197	HP:0001561	Polyhydramnios	2	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:0001197	HP:0034058	Abnormal fetal morphology	2	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0001197	HP:0034059	Abnormal fetal physiology	2	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0001197	HP:0001562	Oligohydramnios	2	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0001197	HP:0001562	Oligohydramnios	2	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040284 - Very rare		13
HP:0001197	HP:0034058	Abnormal fetal morphology	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0001197	HP:0001561	Polyhydramnios	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0001197	HP:0034058	Abnormal fetal morphology	2	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0001197	HP:0001562	Oligohydramnios	2	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		45
HP:0001197	HP:0001562	Oligohydramnios	2	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		76
HP:0001197	HP:0025700	Anhydramnios	2	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8			76
HP:0001197	HP:0001562	Oligohydramnios	2	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		31
HP:0001197	HP:0001562	Oligohydramnios	2	TCTN3 CL E G H	26123	24519	ORPHA:2753	Orofaciodigital syndrome type 4	HP:0040281 - Very frequent		31
HP:0001197	HP:0009800	Maternal diabetes	2	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		1
HP:0001197	HP:0009800	Maternal diabetes	2	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		32
HP:0001197	HP:0034058	Abnormal fetal morphology	2	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1			98
HP:0001197	HP:0034059	Abnormal fetal physiology	2	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0001197	HP:0034058	Abnormal fetal morphology	2	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0001197	HP:0001561	Polyhydramnios	2	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040282 - Frequent		6
HP:0001197	HP:0034059	Abnormal fetal physiology	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0001197	HP:0001561	Polyhydramnios	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0001197	HP:0034058	Abnormal fetal morphology	2	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia
HP:0001197	HP:0034058	Abnormal fetal morphology	2	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia
HP:0001197	HP:0001562	Oligohydramnios	2	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		4
HP:0001197	HP:0034059	Abnormal fetal physiology	2	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0001197	HP:0001562	Oligohydramnios	2	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		45
HP:0001197	HP:0001562	Oligohydramnios	2	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		33
HP:0001197	HP:0001562	Oligohydramnios	2	TMEM231 CL E G H	79583	37234	OMIM:615397	Meckel syndrome, type 11	.		33
HP:0001197	HP:0001562	Oligohydramnios	2	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		82
HP:0001197	HP:0034058	Abnormal fetal morphology	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0001197	HP:0001562	Oligohydramnios	2	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		166
HP:0001197	HP:0001562	Oligohydramnios	2	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.		63
HP:0001197	HP:0001562	Oligohydramnios	2	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040281 - Very frequent		63
HP:0001197	HP:0034059	Abnormal fetal physiology	2	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0001197	HP:0001561	Polyhydramnios	2	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0001197	HP:0100767	Abnormal placenta morphology	2	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome			911
HP:0001197	HP:0100767	Abnormal placenta morphology	2	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome			911
HP:0001197	HP:0011409	Abnormal placental membrane morphology	2	TP63 CL E G H	8626	15979	ORPHA:1072	Ankyloblepharon filiforme adnatum-cleft palate syndrome			140
HP:0001197	HP:0001561	Polyhydramnios	2	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		140
HP:0001197	HP:0031437	Pregnancy exposure	2	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip			140
HP:0001197	HP:0001562	Oligohydramnios	2	TPI1 CL E G H	7167	12009	OMIM:615512	Triosephosphate isomerase deficiency			28
HP:0001197	HP:0034059	Abnormal fetal physiology	2	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0001197	HP:0001561	Polyhydramnios	2	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		54
HP:0001197	HP:0001623	Breech presentation	2	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		54
HP:0001197	HP:0034059	Abnormal fetal physiology	2	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0001197	HP:0001561	Polyhydramnios	2	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0001197	HP:0034059	Abnormal fetal physiology	2	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			54
HP:0001197	HP:0001561	Polyhydramnios	2	TPM2 CL E G H	7169	12011	ORPHA:171436	Typical nemaline myopathy	HP:0040283 - Occasional		54
HP:0001197	HP:0034059	Abnormal fetal physiology	2	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0001197	HP:0001561	Polyhydramnios	2	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040284 - Very rare		108
HP:0001197	HP:0001623	Breech presentation	2	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		108
HP:0001197	HP:0034059	Abnormal fetal physiology	2	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0001197	HP:0001561	Polyhydramnios	2	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0001197	HP:0034059	Abnormal fetal physiology	2	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy			108
HP:0001197	HP:0001561	Polyhydramnios	2	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		108
HP:0001197	HP:0034059	Abnormal fetal physiology	2	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			108
HP:0001197	HP:0034058	Abnormal fetal morphology	2	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0001197	HP:0034059	Abnormal fetal physiology	2	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0001197	HP:0001561	Polyhydramnios	2	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9	.		2
HP:0001197	HP:0034059	Abnormal fetal physiology	2	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0001561	Polyhydramnios	2	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:0001197	HP:0034058	Abnormal fetal morphology	2	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia			31
HP:0001197	HP:0034058	Abnormal fetal morphology	2	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia			31
HP:0001197	HP:0034058	Abnormal fetal morphology	2	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0001197	HP:0034058	Abnormal fetal morphology	2	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A			133
HP:0001197	HP:0001561	Polyhydramnios	2	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040282 - Frequent		133
HP:0001197	HP:0034058	Abnormal fetal morphology	2	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0001197	HP:0001561	Polyhydramnios	2	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.		133
HP:0001197	HP:0034058	Abnormal fetal morphology	2	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0001197	HP:0001561	Polyhydramnios	2	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent		2
HP:0001197	HP:0033335	Abnormal preimplantation embryonic development	2	TRIP13 CL E G H	9319	12307	OMIM:619011	OOCYTE MATURATION DEFECT 9; OOMD9			2
HP:0001197	HP:0034059	Abnormal fetal physiology	2	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0001197	HP:0001562	Oligohydramnios	2	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0001197	HP:0034059	Abnormal fetal physiology	2	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0001197	HP:0034059	Abnormal fetal physiology	2	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive			214
HP:0001197	HP:0001561	Polyhydramnios	2	TRPV6 CL E G H	55503	14006	OMIM:618188	Hyperparathyroidism, transient neonatal	.		4
HP:0001197	HP:0001561	Polyhydramnios	2	TSEN54 CL E G H	283989	27561	ORPHA:166063	Pontocerebellar hypoplasia type 4	HP:0040282 - Frequent		102
HP:0001197	HP:0001561	Polyhydramnios	2	TSEN54 CL E G H	283989	27561	OMIM:225753	Pontocerebellar hypoplasia, type 4	.		102
HP:0001197	HP:0034059	Abnormal fetal physiology	2	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3			43
HP:0001197	HP:0012188	Hyperemesis gravidarum	2	TSHR CL E G H	7253	12373	ORPHA:99819	Familial gestational hyperthyroidism	HP:0040280 - Obligate		97
HP:0001197	HP:0012188	Hyperemesis gravidarum	2	TSHR CL E G H	7253	12373	OMIM:603373	HYPERTHYROIDISM, FAMILIAL GESTATIONAL			97
HP:0001197	HP:0034058	Abnormal fetal morphology	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001197	HP:0031456	Ectopic pregnancy	2	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001197	HP:0034059	Abnormal fetal physiology	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001197	HP:0001561	Polyhydramnios	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001197	HP:0034058	Abnormal fetal morphology	2	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0001197	HP:0001561	Polyhydramnios	2	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040282 - Frequent		26
HP:0001197	HP:0034058	Abnormal fetal morphology	2	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome			26
HP:0001197	HP:0001561	Polyhydramnios	2	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome	.		26
HP:0001197	HP:0001561	Polyhydramnios	2	TTC7A CL E G H	57217	19750	ORPHA:2300	Multiple intestinal atresia	HP:0040282 - Frequent		26
HP:0001197	HP:0034059	Abnormal fetal physiology	2	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0001197	HP:0001561	Polyhydramnios	2	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040282 - Frequent		106
HP:0001197	HP:0034058	Abnormal fetal morphology	2	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0001197	HP:0034058	Abnormal fetal morphology	2	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0001197	HP:0001562	Oligohydramnios	2	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0001197	HP:0001562	Oligohydramnios	2	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040282 - Frequent		2
HP:0001197	HP:0034059	Abnormal fetal physiology	2	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2			35
HP:0001197	HP:0034059	Abnormal fetal physiology	2	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0001197	HP:0001562	Oligohydramnios	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional		7
HP:0001197	HP:0001562	Oligohydramnios	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		2
HP:0001197	HP:0001561	Polyhydramnios	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001197	HP:0034059	Abnormal fetal physiology	2	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11			1
HP:0001197	HP:0001562	Oligohydramnios	2	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0001197	HP:0001623	Breech presentation	2	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0001197	HP:0034059	Abnormal fetal physiology	2	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001197	HP:0034058	Abnormal fetal morphology	2	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0001197	HP:0034058	Abnormal fetal morphology	2	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0001197	HP:0034059	Abnormal fetal physiology	2	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2			2
HP:0001197	HP:0034059	Abnormal fetal physiology	2	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0001197	HP:0030918	Low 1-minute APGAR score	2	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0001197	HP:0030919	Low 5-minute APGAR score	2	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0001197	HP:0034058	Abnormal fetal morphology	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0001197	HP:0001561	Polyhydramnios	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional		6
HP:0001197	HP:0034059	Abnormal fetal physiology	2	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic			2
HP:0001197	HP:0034059	Abnormal fetal physiology	2	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001197	HP:0001561	Polyhydramnios	2	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040284 - Very rare		2
HP:0001197	HP:0009800	Maternal diabetes	2	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence	HP:0040281 - Very frequent		111
HP:0001197	HP:0009800	Maternal diabetes	2	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly	HP:0040283 - Occasional		2
HP:0001197	HP:0030244	Maternal fever in pregnancy	2	VANGL2 CL E G H	57216	15511	ORPHA:563609	Isolated anencephaly	HP:0040283 - Occasional		2
HP:0001197	HP:0001561	Polyhydramnios	2	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly	HP:0040282 - Frequent		2
HP:0001197	HP:0009800	Maternal diabetes	2	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly	HP:0040283 - Occasional		2
HP:0001197	HP:0030244	Maternal fever in pregnancy	2	VANGL2 CL E G H	57216	15511	ORPHA:563612	Isolated exencephaly	HP:0040283 - Occasional		2
HP:0001197	HP:0001623	Breech presentation	2	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0001197	HP:0034058	Abnormal fetal morphology	2	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia			63
HP:0001197	HP:0034058	Abnormal fetal morphology	2	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia			63
HP:0001197	HP:0034059	Abnormal fetal physiology	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0001197	HP:0001562	Oligohydramnios	2	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0001197	HP:0034058	Abnormal fetal morphology	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0001197	HP:0034058	Abnormal fetal morphology	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0001197	HP:0034058	Abnormal fetal morphology	2	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0001197	HP:0034058	Abnormal fetal morphology	2	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0001197	HP:0001561	Polyhydramnios	2	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0001197	HP:0034058	Abnormal fetal morphology	2	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type			136
HP:0001197	HP:0034058	Abnormal fetal morphology	2	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly			136
HP:0001197	HP:0034059	Abnormal fetal physiology	2	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0001197	HP:0001562	Oligohydramnios	2	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.		14
HP:0001197	HP:0001561	Polyhydramnios	2	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies	.		27
HP:0001197	HP:0034058	Abnormal fetal morphology	2	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive			12
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive			12
HP:0001197	HP:0001561	Polyhydramnios	2	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040281 - Very frequent		12
HP:0001197	HP:0001562	Oligohydramnios	2	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	.		4
HP:0001197	HP:0001562	Oligohydramnios	2	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome	HP:0040280 - Obligate		4
HP:0001197	HP:0034058	Abnormal fetal morphology	2	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type			13
HP:0001197	HP:0001562	Oligohydramnios	2	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral	HP:0040281 - Very frequent
HP:0001197	HP:0001563	Fetal polyuria	2	WNT9B CL E G H	7484	12779	ORPHA:1848	Renal agenesis, bilateral	HP:0040282 - Frequent
HP:0001197	HP:0034058	Abnormal fetal morphology	2	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001197	HP:0034059	Abnormal fetal physiology	2	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			149
HP:0001197	HP:0001562	Oligohydramnios	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		125
HP:0001197	HP:0001561	Polyhydramnios	2	YWHAE CL E G H	7531	12851	ORPHA:531	Miller-Dieker syndrome	HP:0040282 - Frequent		14
HP:0001197	HP:0034059	Abnormal fetal physiology	2	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0034058	Abnormal fetal morphology	2	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ZBTB42 CL E G H	100128927	32550	OMIM:616248	Lethal congenital contracture syndrome 6			1
HP:0001197	HP:0001561	Polyhydramnios	2	ZBTB42 CL E G H	100128927	32550	OMIM:616248	Lethal congenital contracture syndrome 6	.		1
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0001197	HP:0001561	Polyhydramnios	2	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0001197	HP:0009800	Maternal diabetes	2	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional		30
HP:0001197	HP:0009800	Maternal diabetes	2	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		34
HP:0001197	HP:0001561	Polyhydramnios	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001197	HP:0034058	Abnormal fetal morphology	2	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked			39
HP:0001197	HP:0001561	Polyhydramnios	2	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked			39
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0001197	HP:0001561	Polyhydramnios	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		83
HP:0001197	HP:0100767	Abnormal placenta morphology	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0001197	HP:0005267	Premature delivery because of cervical insufficiency or membrane fragility	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		83
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0001197	HP:0034059	Abnormal fetal physiology	2	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0001197	HP:0001561	Polyhydramnios	2	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.		83
HP:0001197	HP:0001562	Oligohydramnios	2	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0001197	HP:0001788	Premature rupture of membranes	2	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.		83
HP:0001197	HP:0100767	Abnormal placenta morphology	2	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0001197	HP:0011409	Abnormal placental membrane morphology	2	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0001197	HP:0031456	Ectopic pregnancy	2	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		20
HP:0001197	HP:0034058	Abnormal fetal morphology	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001197	HP:0001561	Polyhydramnios	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001197	HP:0001623	Breech presentation	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001197	HP:0010881	Abnormality of the umbilical cord	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001197	HP:0010570	Low maternal circulating alpha-fetoprotein concentration	3	CL E G H
HP:0001197	HP:0010859	Frank breech presentation	3	CL E G H
HP:0001197	HP:0010860	Complete breech presentation	3	CL E G H
HP:0001197	HP:0010861	Incomplete breech presentation	3	CL E G H
HP:0001197	HP:0011415	Calcified placenta	3	CL E G H
HP:0001197	HP:0011416	Placental infarction	3	CL E G H
HP:0001197	HP:0011417	Long umbilical cord	3	CL E G H
HP:0001197	HP:0011418	Abnormal insertion of umbilical cord	3	CL E G H
HP:0001197	HP:0011433	High maternal circulating chorionic gonadotropin concentration	3	CL E G H
HP:0001197	HP:0011434	Low maternal circulating chorionic gonadotropin concentration	3	CL E G H
HP:0001197	HP:0011435	Low maternal circulating PAPP-A concentration	3	CL E G H
HP:0001197	HP:0012536	Maternal anticardiolipin antibody positive	3	CL E G H
HP:0001197	HP:0025652	Abnormal placental adhesion into the uterine wall	3	CL E G H
HP:0001197	HP:0025657	Abnormal umbilical blood flow measurement	3	CL E G H
HP:0001197	HP:0025675	Premature closure of the ductus arteriosus	3	CL E G H
HP:0001197	HP:0025716	Fetal anemia	3	CL E G H
HP:0001197	HP:0025719	Maternal vascular malperfusion	3	CL E G H
HP:0001197	HP:0025729	Fetal vascular malperfusion	3	CL E G H
HP:0001197	HP:0030245	Intrapartum fever	3	CL E G H
HP:0001197	HP:0030246	Maternal first trimester fever	3	CL E G H
HP:0001197	HP:0030363	Primary Caesarian section	3	CL E G H
HP:0001197	HP:0030364	Secondary Caesarian section	3	CL E G H
HP:0001197	HP:0030654	Umbilical cord cyst	3	CL E G H
HP:0001197	HP:0030655	Umbilical cord knot	3	CL E G H
HP:0001197	HP:0030656	Umbilical vein varix	3	CL E G H
HP:0001197	HP:0030714	Subchorionic thrombohematoma	3	CL E G H
HP:0001197	HP:0030720	Subchorionic septal cyst	3	CL E G H
HP:0001197	HP:0030753	Intrauterine fetal demise of one twin after midgestation	3	CL E G H
HP:0001197	HP:0030763	Amniotic Sheet	3	CL E G H
HP:0001197	HP:0030920	5-minute APGAR score of 0	3	CL E G H
HP:0001197	HP:0030922	5-minute APGAR score of 2	3	CL E G H
HP:0001197	HP:0030923	5-minute APGAR score of 3	3	CL E G H
HP:0001197	HP:0030924	5-minute APGAR score of 4	3	CL E G H
HP:0001197	HP:0030926	5-minute APGAR score of 6	3	CL E G H
HP:0001197	HP:0030929	1-minute APGAR score of 2	3	CL E G H
HP:0001197	HP:0030930	1-minute APGAR score of 3	3	CL E G H
HP:0001197	HP:0030931	1-minute APGAR score of 4	3	CL E G H
HP:0001197	HP:0030932	1-minute APGAR score of 5	3	CL E G H
HP:0001197	HP:0030933	1-minute APGAR score of 6	3	CL E G H
HP:0001197	HP:0031110	Twin-to-twin transfusion	3	CL E G H
HP:0001197	HP:0033042	Abnormal chorion morphology	3	CL E G H
HP:0001197	HP:0033468	10-minute APGAR score of 0	3	CL E G H
HP:0001197	HP:0033469	10-minute APGAR score of 1	3	CL E G H
HP:0001197	HP:0033470	10-minute APGAR score of 2	3	CL E G H
HP:0001197	HP:0033471	10-minute APGAR score of 3	3	CL E G H
HP:0001197	HP:0033472	10-minute APGAR score of 4	3	CL E G H
HP:0001197	HP:0033473	10-minute APGAR score of 5	3	CL E G H
HP:0001197	HP:0033474	10-minute APGAR score of 6	3	CL E G H
HP:0001197	HP:0033552	Chronic villitis	3	CL E G H
HP:0001197	HP:0034245	Fetal head anomaly	3	CL E G H
HP:0001197	HP:0034248	Increased fetal lens echogenicity	3	CL E G H
HP:0001197	HP:0100883	Chorangioma	3	CL E G H
HP:0001197	HP:0410210	Abnormal cord blood measurement	3	CL E G H
HP:0001197	HP:0001557	Prenatal movement abnormality	3	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0100602	Preeclampsia	3	ABCB11 CL E G H	8647	42	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional		146
HP:0001197	HP:0025116	Fetal distress	3	ABCB4 CL E G H	5244	45	OMIM:614972	Cholestasis, intrahepatic, of pregnancy 3	.		111
HP:0001197	HP:0100602	Preeclampsia	3	ABCB4 CL E G H	5244	45	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional		111
HP:0001197	HP:0001789	Hydrops fetalis	3	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		415
HP:0001197	HP:0025116	Fetal distress	3	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent		415
HP:0001197	HP:0025667	Fetal neck anomaly	3	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum			415
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum			415
HP:0001197	HP:0025116	Fetal distress	3	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy			96
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			96
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3			96
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy			96
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy			96
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001197	HP:0025723	Abnormal fetal skin morphology	3	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome			75
HP:0001197	HP:0001789	Hydrops fetalis	3	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001197	HP:0001789	Hydrops fetalis	3	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		1
HP:0001197	HP:0025667	Fetal neck anomaly	3	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0001197	HP:0001196	Short umbilical cord	3	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9	HP:0040283 - Occasional		5
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9			5
HP:0001197	HP:0100602	Preeclampsia	3	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9	.		5
HP:0001197	HP:0025116	Fetal distress	3	AFF2 CL E G H	2334	3776	OMIM:309548	Mental retardation, X-linked, associated with fragile site fraxe			59
HP:0001197	HP:0001789	Hydrops fetalis	3	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040283 - Occasional		1
HP:0001197	HP:0001557	Prenatal movement abnormality	3	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes			127
HP:0001197	HP:0001789	Hydrops fetalis	3	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040282 - Frequent		31
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent	.		227
HP:0001197	HP:0025116	Fetal distress	3	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent	.		227
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent		227
HP:0001197	HP:0025116	Fetal distress	3	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent		227
HP:0001197	HP:0001789	Hydrops fetalis	3	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik			58
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0001197	HP:0001789	Hydrops fetalis	3	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040282 - Frequent		46
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0001197	HP:0001789	Hydrops fetalis	3	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0001197	HP:0025667	Fetal neck anomaly	3	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0001197	HP:0025667	Fetal neck anomaly	3	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0001197	HP:0001789	Hydrops fetalis	3	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27	.		89
HP:0001197	HP:0001557	Prenatal movement abnormality	3	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			7
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001197	HP:0001789	Hydrops fetalis	3	ASAH1 CL E G H	427	735	ORPHA:333	Farber disease	HP:0040284 - Very rare		78
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome			15
HP:0001197	HP:0008071	Maternal hypertension	3	ASH1L CL E G H	55870	19088	OMIM:617796	Mental retardation, autosomal dominant 52			1
HP:0001197	HP:0034206	Abnormal fetal central nervous system morphology	3	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0001197	HP:0025116	Fetal distress	3	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0001197	HP:0025667	Fetal neck anomaly	3	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD			239
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			239
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			150
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001197	HP:0025667	Fetal neck anomaly	3	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0001197	HP:0025116	Fetal distress	3	ATP8B1 CL E G H	5205	3706	OMIM:147480	Cholestasis, intrahepatic, of pregnancy, 1	.		144
HP:0001197	HP:0100602	Preeclampsia	3	ATP8B1 CL E G H	5205	3706	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional		144
HP:0001197	HP:0001557	Prenatal movement abnormality	3	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0001197	HP:0025667	Fetal neck anomaly	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0001197	HP:0100768	Choriocarcinoma	3	BCL10 CL E G H	8915	989	OMIM:273300	Testicular tumor, somatic	.		18
HP:0001197	HP:0025667	Fetal neck anomaly	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0001197	HP:0001557	Prenatal movement abnormality	3	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy			46
HP:0001197	HP:0001557	Prenatal movement abnormality	3	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant			46
HP:0001197	HP:0001557	Prenatal movement abnormality	3	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy			99
HP:0001197	HP:0001557	Prenatal movement abnormality	3	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2			99
HP:0001197	HP:0025662	Abnormal fetal skeletal morphology	3	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0001197	HP:0025667	Fetal neck anomaly	3	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0001197	HP:0034242	Abnormal fetal genitourinary system morphology	3	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve			22
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve			22
HP:0001197	HP:0001557	Prenatal movement abnormality	3	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional
HP:0001197	HP:0025667	Fetal neck anomaly	3	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0001197	HP:0001789	Hydrops fetalis	3	BSND CL E G H	7809	16512	OMIM:602522	Bartter syndrome, type 4A, neonatal, with sensorineural deafness	.		53
HP:0001197	HP:0033336	Zygotic cleavage failure	3	BTG4 CL E G H	54766	13862	OMIM:619009	OOCYTE MATURATION DEFECT 8; OOMD8
HP:0001197	HP:0025667	Fetal neck anomaly	3	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0001197	HP:0025667	Fetal neck anomaly	3	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0001197	HP:0025667	Fetal neck anomaly	3	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0001197	HP:0025667	Fetal neck anomaly	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0001197	HP:0025667	Fetal neck anomaly	3	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia			56
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia			56
HP:0001197	HP:0025667	Fetal neck anomaly	3	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia			56
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia			56
HP:0001197	HP:0001557	Prenatal movement abnormality	3	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			449
HP:0001197	HP:0001557	Prenatal movement abnormality	3	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0001197	HP:0001557	Prenatal movement abnormality	3	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			59
HP:0001197	HP:0001789	Hydrops fetalis	3	CALCRL CL E G H	10203	16709	OMIM:618773	LYMPHATIC MALFORMATION 8; LMPHM8			3
HP:0001197	HP:0025116	Fetal distress	3	CAMK2B CL E G H	816	1461	OMIM:617799	Mental retardation, autosomal dominant 54
HP:0001197	HP:0001557	Prenatal movement abnormality	3	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome			1
HP:0001197	HP:0001789	Hydrops fetalis	3	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27			35
HP:0001197	HP:0001789	Hydrops fetalis	3	CASP10 CL E G H	843	1500	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		87
HP:0001197	HP:0025667	Fetal neck anomaly	3	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0001197	HP:0001789	Hydrops fetalis	3	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		147
HP:0001197	HP:0001557	Prenatal movement abnormality	3	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation			1
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0001197	HP:0100601	Eclampsia	3	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		39
HP:0001197	HP:0100602	Preeclampsia	3	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent		39
HP:0001197	HP:0008071	Maternal hypertension	3	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent		39
HP:0001197	HP:0011419	Placental abruption	3	CD46 CL E G H	4179	6953	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		39
HP:0001197	HP:0001789	Hydrops fetalis	3	CDAN1 CL E G H	146059	1713	OMIM:224120	Anemia, congenital dyserythropoietic, type Ia	.		86
HP:0001197	HP:0034206	Abnormal fetal central nervous system morphology	3	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001197	HP:0034242	Abnormal fetal genitourinary system morphology	3	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001197	HP:0001557	Prenatal movement abnormality	3	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001197	HP:0001557	Prenatal movement abnormality	3	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0032165	Placental mesenchymal dysplasia	3	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0001197	HP:0012767	Abnormal placental size	3	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation			114
HP:0001197	HP:0100768	Choriocarcinoma	3	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare		289
HP:0001197	HP:0001557	Prenatal movement abnormality	3	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0025667	Fetal neck anomaly	3	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0001197	HP:0100601	Eclampsia	3	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		86
HP:0001197	HP:0100602	Preeclampsia	3	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent		86
HP:0001197	HP:0008071	Maternal hypertension	3	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent		86
HP:0001197	HP:0011419	Placental abruption	3	CFH CL E G H	3075	4883	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		86
HP:0001197	HP:0100601	Eclampsia	3	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		57
HP:0001197	HP:0100602	Preeclampsia	3	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent		57
HP:0001197	HP:0008071	Maternal hypertension	3	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent		57
HP:0001197	HP:0011419	Placental abruption	3	CFI CL E G H	3426	5394	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional		57
HP:0001197	HP:0001557	Prenatal movement abnormality	3	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes			65
HP:0001197	HP:0025723	Abnormal fetal skin morphology	3	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome			515
HP:0001197	HP:0100768	Choriocarcinoma	3	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare		833
HP:0001197	HP:0025667	Fetal neck anomaly	3	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia			42
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia			42
HP:0001197	HP:0025667	Fetal neck anomaly	3	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia			42
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia			42
HP:0001197	HP:0001557	Prenatal movement abnormality	3	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type			74
HP:0001197	HP:0001557	Prenatal movement abnormality	3	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type			88
HP:0001197	HP:0001557	Prenatal movement abnormality	3	CHRND CL E G H	1144	1965	OMIM:616322	Myasthenic syndrome, congenital, 3B, fast-channel			88
HP:0001197	HP:0001557	Prenatal movement abnormality	3	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			139
HP:0001197	HP:0001557	Prenatal movement abnormality	3	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant			68
HP:0001197	HP:0001557	Prenatal movement abnormality	3	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type			68
HP:0001197	HP:0001557	Prenatal movement abnormality	3	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome			3
HP:0001197	HP:0034242	Abnormal fetal genitourinary system morphology	3	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0001197	HP:0025667	Fetal neck anomaly	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0001197	HP:0001557	Prenatal movement abnormality	3	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0001197	HP:0032435	Neonatal omphalitis	3	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A			38
HP:0001197	HP:0001557	Prenatal movement abnormality	3	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001197	HP:0001557	Prenatal movement abnormality	3	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			18
HP:0001197	HP:0001557	Prenatal movement abnormality	3	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north			40
HP:0001197	HP:0001557	Prenatal movement abnormality	3	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7			9
HP:0001197	HP:0001557	Prenatal movement abnormality	3	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3			9
HP:0001197	HP:0001789	Hydrops fetalis	3	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.		215
HP:0001197	HP:0025662	Abnormal fetal skeletal morphology	3	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0001197	HP:0001557	Prenatal movement abnormality	3	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			65
HP:0001197	HP:0001557	Prenatal movement abnormality	3	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes			6
HP:0001197	HP:0001789	Hydrops fetalis	3	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA			373
HP:0001197	HP:0001789	Hydrops fetalis	3	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA			243
HP:0001197	HP:0001557	Prenatal movement abnormality	3	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita			3
HP:0001197	HP:0001789	Hydrops fetalis	3	COL2A1 CL E G H	1280	2200	OMIM:200610	Achondrogenesis, type II	.		284
HP:0001197	HP:0001789	Hydrops fetalis	3	COL2A1 CL E G H	1280	2200	ORPHA:85166	Platyspondylic dysplasia, Torrance type	HP:0040282 - Frequent		284
HP:0001197	HP:0005100	Premature birth following premature rupture of fetal membranes	3	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I	.		660
HP:0001197	HP:0001557	Prenatal movement abnormality	3	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1			442
HP:0001197	HP:0001557	Prenatal movement abnormality	3	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			442
HP:0001197	HP:0001557	Prenatal movement abnormality	3	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1			478
HP:0001197	HP:0001557	Prenatal movement abnormality	3	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			478
HP:0001197	HP:0001557	Prenatal movement abnormality	3	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1			702
HP:0001197	HP:0001557	Prenatal movement abnormality	3	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type			702
HP:0001197	HP:0100602	Preeclampsia	3	CORIN CL E G H	10699	19012	OMIM:614595	Preeclampsia/eclampsia 5			5
HP:0001197	HP:0001557	Prenatal movement abnormality	3	COX15 CL E G H	1355	2263	OMIM:615119	Mitochondrial complex IV deficiency, nuclear type 6			104
HP:0001197	HP:0001557	Prenatal movement abnormality	3	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0001197	HP:0001557	Prenatal movement abnormality	3	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0001197	HP:0001557	Prenatal movement abnormality	3	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0001197	HP:0001557	Prenatal movement abnormality	3	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0001197	HP:0025667	Fetal neck anomaly	3	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001197	HP:0001557	Prenatal movement abnormality	3	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001197	HP:0001557	Prenatal movement abnormality	3	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0001197	HP:0025116	Fetal distress	3	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040283 - Occasional		20
HP:0001197	HP:0001789	Hydrops fetalis	3	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0001197	HP:0001557	Prenatal movement abnormality	3	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001197	HP:0008073	Low maternal circulating estriol concentration	3	CYP11A1 CL E G H	1583	2590	ORPHA:168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	HP:0040281 - Very frequent		31
HP:0001197	HP:0008073	Low maternal circulating estriol concentration	3	CYP11A1 CL E G H	1583	2590	ORPHA:289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	HP:0040281 - Very frequent		31
HP:0001197	HP:0100602	Preeclampsia	3	CYP11B1 CL E G H	1584	2591	ORPHA:403	Familial hyperaldosteronism type I	HP:0040283 - Occasional		112
HP:0001197	HP:0100602	Preeclampsia	3	CYP11B2 CL E G H	1585	2592	ORPHA:403	Familial hyperaldosteronism type I	HP:0040283 - Occasional		73
HP:0001197	HP:0001557	Prenatal movement abnormality	3	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0025723	Abnormal fetal skin morphology	3	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome			94
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001197	HP:0001557	Prenatal movement abnormality	3	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome			33
HP:0001197	HP:0001557	Prenatal movement abnormality	3	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0001197	HP:0025667	Fetal neck anomaly	3	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0001197	HP:0001557	Prenatal movement abnormality	3	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			47
HP:0001197	HP:0034206	Abnormal fetal central nervous system morphology	3	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0001197	HP:0100602	Preeclampsia	3	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment	.
HP:0001197	HP:0025667	Fetal neck anomaly	3	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0001197	HP:0012767	Abnormal placental size	3	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001197	HP:0012767	Abnormal placental size	3	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0001197	HP:0012767	Abnormal placental size	3	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001197	HP:0001557	Prenatal movement abnormality	3	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0001197	HP:0001557	Prenatal movement abnormality	3	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1			152
HP:0001197	HP:0001557	Prenatal movement abnormality	3	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome			41
HP:0001197	HP:0025667	Fetal neck anomaly	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0001197	HP:0001557	Prenatal movement abnormality	3	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			72
HP:0001197	HP:0001557	Prenatal movement abnormality	3	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0001197	HP:0001557	Prenatal movement abnormality	3	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy			167
HP:0001197	HP:0001557	Prenatal movement abnormality	3	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5			167
HP:0001197	HP:0025116	Fetal distress	3	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0001197	HP:0025667	Fetal neck anomaly	3	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001197	HP:0001557	Prenatal movement abnormality	3	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0001197	HP:0001557	Prenatal movement abnormality	3	DOK7 CL E G H	285489	26594	OMIM:618389	FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3			91
HP:0001197	HP:0001557	Prenatal movement abnormality	3	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial			91
HP:0001197	HP:0001557	Prenatal movement abnormality	3	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG			38
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001197	HP:0001557	Prenatal movement abnormality	3	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001197	HP:0034206	Abnormal fetal central nervous system morphology	3	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001197	HP:0001557	Prenatal movement abnormality	3	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001197	HP:0001789	Hydrops fetalis	3	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent		304
HP:0001197	HP:0001789	Hydrops fetalis	3	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0001197	HP:0001789	Hydrops fetalis	3	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent
HP:0001197	HP:0001557	Prenatal movement abnormality	3	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0001197	HP:0025667	Fetal neck anomaly	3	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome			51
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome			51
HP:0001197	HP:0001557	Prenatal movement abnormality	3	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			60
HP:0001197	HP:0025667	Fetal neck anomaly	3	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia			27
HP:0001197	HP:0025667	Fetal neck anomaly	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0001197	HP:0034207	Abnormal fetal gastrointestinal system morphology	3	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0001197	HP:0025667	Fetal neck anomaly	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0001197	HP:0025116	Fetal distress	3	EMC10 CL E G H	284361	27609	OMIM:619264	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND VARIABLE SEIZURES; NEDDFAS
HP:0001197	HP:0025116	Fetal distress	3	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1			151
HP:0001197	HP:0001789	Hydrops fetalis	3	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		151
HP:0001197	HP:0025116	Fetal distress	3	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040282 - Frequent		151
HP:0001197	HP:0025667	Fetal neck anomaly	3	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum			151
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum			151
HP:0001197	HP:0100602	Preeclampsia	3	EP300 CL E G H	2033	3373	OMIM:613684	Rubinstein-Taybi syndrome 2	HP:0040283 - Occasional		250
HP:0001197	HP:0001789	Hydrops fetalis	3	EPB41 CL E G H	2035	3377	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		6
HP:0001197	HP:0001789	Hydrops fetalis	3	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation			3
HP:0001197	HP:0001789	Hydrops fetalis	3	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7			3
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2			12
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3			83
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0001197	HP:0001557	Prenatal movement abnormality	3	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0001197	HP:0025116	Fetal distress	3	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D
HP:0001197	HP:0030657	Umbilical cord hematoma	3	F13A1 CL E G H	2162	3531	ORPHA:331	Congenital factor XIII deficiency	HP:0040281 - Very frequent		60
HP:0001197	HP:0030657	Umbilical cord hematoma	3	F13B CL E G H	2165	3534	ORPHA:331	Congenital factor XIII deficiency	HP:0040281 - Very frequent		32
HP:0001197	HP:0100602	Preeclampsia	3	F5 CL E G H	2153	3542	OMIM:188055	Thrombophilia due to deficiency of activated protein C cofactor	.		159
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0001197	HP:0034207	Abnormal fetal gastrointestinal system morphology	3	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked			58
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked			58
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus			58
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus			58
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus			58
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001197	HP:0011419	Placental abruption	3	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001197	HP:0001789	Hydrops fetalis	3	FAS CL E G H	355	11920	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		59
HP:0001197	HP:0001789	Hydrops fetalis	3	FASLG CL E G H	356	11936	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		37
HP:0001197	HP:0001789	Hydrops fetalis	3	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		114
HP:0001197	HP:0001557	Prenatal movement abnormality	3	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0001197	HP:0032435	Neonatal omphalitis	3	FCGR3B CL E G H	2215	3620	ORPHA:464370	Neonatal alloimmune neutropenia	HP:0040283 - Occasional		5
HP:0001197	HP:0100602	Preeclampsia	3	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040283 - Occasional
HP:0001197	HP:0009775	Amniotic constriction ring	3	FERMT1 CL E G H	55612	15889	OMIM:173650	Kindler syndrome	.		136
HP:0001197	HP:0001557	Prenatal movement abnormality	3	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001197	HP:0034242	Abnormal fetal genitourinary system morphology	3	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0001197	HP:0001557	Prenatal movement abnormality	3	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001197	HP:0100768	Choriocarcinoma	3	FGFR3 CL E G H	2261	3690	OMIM:273300	Testicular tumor, somatic	.		145
HP:0001197	HP:0025667	Fetal neck anomaly	3	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1			145
HP:0001197	HP:0025667	Fetal neck anomaly	3	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2			145
HP:0001197	HP:0001557	Prenatal movement abnormality	3	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0001197	HP:0025662	Abnormal fetal skeletal morphology	3	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0001197	HP:0030921	5-minute APGAR score of 1	3	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0001197	HP:0030928	1-minute APGAR score of 1	3	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0001197	HP:0001557	Prenatal movement abnormality	3	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II			145
HP:0001197	HP:0001557	Prenatal movement abnormality	3	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001197	HP:0001789	Hydrops fetalis	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0001197	HP:0001789	Hydrops fetalis	3	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional		111
HP:0001197	HP:0025667	Fetal neck anomaly	3	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0001197	HP:0001557	Prenatal movement abnormality	3	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0001197	HP:0025667	Fetal neck anomaly	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0001197	HP:0001557	Prenatal movement abnormality	3	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome
HP:0001197	HP:0001789	Hydrops fetalis	3	FLNB CL E G H	2317	3755	ORPHA:1263	Boomerang dysplasia	HP:0040282 - Frequent		233
HP:0001197	HP:0001789	Hydrops fetalis	3	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1			90
HP:0001197	HP:0001789	Hydrops fetalis	3	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0001197	HP:0001789	Hydrops fetalis	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001197	HP:0025667	Fetal neck anomaly	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0001197	HP:0025116	Fetal distress	3	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		61
HP:0001197	HP:0001557	Prenatal movement abnormality	3	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0001197	HP:0001557	Prenatal movement abnormality	3	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0032435	Neonatal omphalitis	3	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0001197	HP:0001557	Prenatal movement abnormality	3	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			5
HP:0001197	HP:0001557	Prenatal movement abnormality	3	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			4
HP:0001197	HP:0001557	Prenatal movement abnormality	3	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0001557	Prenatal movement abnormality	3	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			44
HP:0001197	HP:0001557	Prenatal movement abnormality	3	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			139
HP:0001197	HP:0001789	Hydrops fetalis	3	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0001197	HP:0001789	Hydrops fetalis	3	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria			29
HP:0001197	HP:0034207	Abnormal fetal gastrointestinal system morphology	3	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001197	HP:0025662	Abnormal fetal skeletal morphology	3	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001197	HP:0025667	Fetal neck anomaly	3	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0001197	HP:0001789	Hydrops fetalis	3	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0001197	HP:0001789	Hydrops fetalis	3	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42			1
HP:0001197	HP:0001557	Prenatal movement abnormality	3	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease
HP:0001197	HP:0001789	Hydrops fetalis	3	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease	HP:0040281 - Very frequent
HP:0001197	HP:0001789	Hydrops fetalis	3	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040282 - Frequent
HP:0001197	HP:0001557	Prenatal movement abnormality	3	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0001197	HP:0001789	Hydrops fetalis	3	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0001197	HP:0025723	Abnormal fetal skin morphology	3	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0001197	HP:0001557	Prenatal movement abnormality	3	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV			86
HP:0001197	HP:0001789	Hydrops fetalis	3	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV	.		86
HP:0001197	HP:0001557	Prenatal movement abnormality	3	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency			128
HP:0001197	HP:0001557	Prenatal movement abnormality	3	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0001197	HP:0009775	Amniotic constriction ring	3	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0001197	HP:0009775	Amniotic constriction ring	3	GJB2 CL E G H	2706	4284	ORPHA:494	Keratoderma hereditarium mutilans	HP:0040281 - Very frequent		199
HP:0001197	HP:0009775	Amniotic constriction ring	3	GJB2 CL E G H	2706	4284	OMIM:124500	VOHWINKEL SYNDROME; VOWNKL			199
HP:0001197	HP:0001789	Hydrops fetalis	3	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040283 - Occasional		120
HP:0001197	HP:0001789	Hydrops fetalis	3	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0001197	HP:0001557	Prenatal movement abnormality	3	GLDN CL E G H	342035	29514	OMIM:617194	Lethal congenital contracture syndrome 11			6
HP:0001197	HP:0001557	Prenatal movement abnormality	3	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0001197	HP:0009775	Amniotic constriction ring	3	GLE1 CL E G H	2733	4315	ORPHA:1486	Lethal congenital contracture syndrome type 1	HP:0040282 - Frequent		45
HP:0001197	HP:0001557	Prenatal movement abnormality	3	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2			46
HP:0001197	HP:0001557	Prenatal movement abnormality	3	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14			34
HP:0001197	HP:0034207	Abnormal fetal gastrointestinal system morphology	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001197	HP:0001557	Prenatal movement abnormality	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001197	HP:0025667	Fetal neck anomaly	3	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia			99
HP:0001197	HP:0001557	Prenatal movement abnormality	3	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
HP:0001197	HP:0001557	Prenatal movement abnormality	3	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001197	HP:0001789	Hydrops fetalis	3	GRIP1 CL E G H	23426	18708	OMIM:617667	Fraser syndrome 3	.		80
HP:0001197	HP:0025667	Fetal neck anomaly	3	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia			126
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia			126
HP:0001197	HP:0025667	Fetal neck anomaly	3	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia			126
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia			126
HP:0001197	HP:0025667	Fetal neck anomaly	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0001197	HP:0025667	Fetal neck anomaly	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0001197	HP:0025667	Fetal neck anomaly	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0001197	HP:0001789	Hydrops fetalis	3	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7	HP:0040282 - Frequent		54
HP:0001197	HP:0001789	Hydrops fetalis	3	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.		54
HP:0001197	HP:0001789	Hydrops fetalis	3	GYPC CL E G H	2995	4704	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		5
HP:0001197	HP:0001557	Prenatal movement abnormality	3	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			4
HP:0001197	HP:0032165	Placental mesenchymal dysplasia	3	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0001197	HP:0001557	Prenatal movement abnormality	3	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0001197	HP:0001557	Prenatal movement abnormality	3	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0001197	HP:0001789	Hydrops fetalis	3	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency	.		99
HP:0001197	HP:0001789	Hydrops fetalis	3	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency	.		60
HP:0001197	HP:0001789	Hydrops fetalis	3	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040281 - Very frequent		200
HP:0001197	HP:0100602	Preeclampsia	3	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040282 - Frequent		200
HP:0001197	HP:0001789	Hydrops fetalis	3	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040281 - Very frequent		88
HP:0001197	HP:0100602	Preeclampsia	3	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040282 - Frequent		88
HP:0001197	HP:0001557	Prenatal movement abnormality	3	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			54
HP:0001197	HP:0001557	Prenatal movement abnormality	3	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		37
HP:0001197	HP:0025667	Fetal neck anomaly	3	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0001197	HP:0100601	Eclampsia	3	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional
HP:0001197	HP:0100602	Preeclampsia	3	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent
HP:0001197	HP:0008071	Maternal hypertension	3	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040282 - Frequent
HP:0001197	HP:0011419	Placental abruption	3	HELLPAR CL E G H	101101692	43984	ORPHA:244242	HELLP syndrome	HP:0040283 - Occasional
HP:0001197	HP:0001557	Prenatal movement abnormality	3	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0001197	HP:0025723	Abnormal fetal skin morphology	3	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency			148
HP:0001197	HP:0012767	Abnormal placental size	3	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation			2
HP:0001197	HP:0025667	Fetal neck anomaly	3	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome			8
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome			8
HP:0001197	HP:0025667	Fetal neck anomaly	3	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion			8
HP:0001197	HP:0025667	Fetal neck anomaly	3	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation			8
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association			25
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association			25
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association			25
HP:0001197	HP:0025667	Fetal neck anomaly	3	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0001197	HP:0034207	Abnormal fetal gastrointestinal system morphology	3	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency			98
HP:0001197	HP:0001789	Hydrops fetalis	3	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional		345
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0001197	HP:0012767	Abnormal placental size	3	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0001197	HP:0001557	Prenatal movement abnormality	3	HSPG2 CL E G H	3339	5273	ORPHA:800	Schwartz-Jampel syndrome	HP:0040283 - Occasional		345
HP:0001197	HP:0001789	Hydrops fetalis	3	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent		65
HP:0001197	HP:0012767	Abnormal placental size	3	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency			91
HP:0001197	HP:0032165	Placental mesenchymal dysplasia	3	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0001197	HP:0001557	Prenatal movement abnormality	3	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication			9
HP:0001197	HP:0012767	Abnormal placental size	3	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation			9
HP:0001197	HP:0001557	Prenatal movement abnormality	3	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1			209
HP:0001197	HP:0025116	Fetal distress	3	IKZF1 CL E G H	10320	13176	OMIM:616873	IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13			8
HP:0001197	HP:0025116	Fetal distress	3	IL1RN CL E G H	3557	6000	OMIM:612852	Interleukin 1 receptor antagonist deficiency			40
HP:0001197	HP:0001557	Prenatal movement abnormality	3	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity
HP:0001197	HP:0025723	Abnormal fetal skin morphology	3	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome			48
HP:0001197	HP:0032434	Delayed umbilical cord separation	3	IL6ST CL E G H	3572	6021	OMIM:619752	HYPER-IgE RECURRENT INFECTION SYNDROME 4A, AUTOSOMAL DOMINANT; HIES4A
HP:0001197	HP:0025723	Abnormal fetal skin morphology	3	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome			94
HP:0001197	HP:0025116	Fetal distress	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001197	HP:0001557	Prenatal movement abnormality	3	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001557	Prenatal movement abnormality	3	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome			119
HP:0001197	HP:0011438	Maternal teratogenic exposure	3	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional		99
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0001197	HP:0032434	Delayed umbilical cord separation	3	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I			114
HP:0001197	HP:0032435	Neonatal omphalitis	3	ITGB2 CL E G H	3689	6155	OMIM:116920	Leukocyte adhesion deficiency, type I			114
HP:0001197	HP:0009775	Amniotic constriction ring	3	KANK2 CL E G H	25959	29300	OMIM:616099	Palmoplantar keratoderma and woolly hair			1
HP:0001197	HP:0034242	Abnormal fetal genitourinary system morphology	3	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0001197	HP:0034242	Abnormal fetal genitourinary system morphology	3	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0001197	HP:0001557	Prenatal movement abnormality	3	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0001197	HP:0001557	Prenatal movement abnormality	3	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0001197	HP:0001557	Prenatal movement abnormality	3	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			65
HP:0001197	HP:0032165	Placental mesenchymal dysplasia	3	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0001197	HP:0032165	Placental mesenchymal dysplasia	3	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0001197	HP:0025116	Fetal distress	3	KCNQ5 CL E G H	56479	6299	OMIM:617601	Mental retardation, autosomal dominant 46			5
HP:0001197	HP:0001789	Hydrops fetalis	3	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	HP:0040283 - Occasional		24
HP:0001197	HP:0001789	Hydrops fetalis	3	KIF20A CL E G H	10112	9787	OMIM:619433	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0001197	HP:0001557	Prenatal movement abnormality	3	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0001197	HP:0100768	Choriocarcinoma	3	KIT CL E G H	3815	6342	OMIM:273300	Testicular tumor, somatic	.		327
HP:0001197	HP:0001789	Hydrops fetalis	3	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV	.		42
HP:0001197	HP:0001557	Prenatal movement abnormality	3	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8			28
HP:0001197	HP:0001557	Prenatal movement abnormality	3	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy			28
HP:0001197	HP:0001557	Prenatal movement abnormality	3	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0001197	HP:0001557	Prenatal movement abnormality	3	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy			13
HP:0001197	HP:0001557	Prenatal movement abnormality	3	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9			13
HP:0001197	HP:0001557	Prenatal movement abnormality	3	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy			13
HP:0001197	HP:0025667	Fetal neck anomaly	3	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0001197	HP:0025667	Fetal neck anomaly	3	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0001197	HP:0034207	Abnormal fetal gastrointestinal system morphology	3	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0001197	HP:0001789	Hydrops fetalis	3	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0001197	HP:0100602	Preeclampsia	3	LBR CL E G H	3930	6518	ORPHA:1426	Greenberg dysplasia	HP:0040282 - Frequent		70
HP:0001197	HP:0025667	Fetal neck anomaly	3	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0001197	HP:0012767	Abnormal placental size	3	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0001197	HP:0001557	Prenatal movement abnormality	3	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001197	HP:0001557	Prenatal movement abnormality	3	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0001197	HP:0001557	Prenatal movement abnormality	3	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect			6
HP:0001197	HP:0025723	Abnormal fetal skin morphology	3	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome			88
HP:0001197	HP:0025667	Fetal neck anomaly	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0001197	HP:0001557	Prenatal movement abnormality	3	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation			645
HP:0001197	HP:0100601	Eclampsia	3	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040283 - Occasional		645
HP:0001197	HP:0001557	Prenatal movement abnormality	3	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related			645
HP:0001197	HP:0001196	Short umbilical cord	3	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		645
HP:0001197	HP:0001557	Prenatal movement abnormality	3	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0001197	HP:0012767	Abnormal placental size	3	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0001197	HP:0001557	Prenatal movement abnormality	3	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2			645
HP:0001197	HP:0025116	Fetal distress	3	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2			645
HP:0001197	HP:0001557	Prenatal movement abnormality	3	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10			11
HP:0001197	HP:0001557	Prenatal movement abnormality	3	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy			11
HP:0001197	HP:0009775	Amniotic constriction ring	3	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis	HP:0040283 - Occasional
HP:0001197	HP:0025667	Fetal neck anomaly	3	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0001197	HP:0025667	Fetal neck anomaly	3	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0001197	HP:0025667	Fetal neck anomaly	3	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0001197	HP:0001557	Prenatal movement abnormality	3	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0001197	HP:0001557	Prenatal movement abnormality	3	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0001197	HP:0001557	Prenatal movement abnormality	3	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			63
HP:0001197	HP:0001557	Prenatal movement abnormality	3	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			63
HP:0001197	HP:0001557	Prenatal movement abnormality	3	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			63
HP:0001197	HP:0001557	Prenatal movement abnormality	3	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			63
HP:0001197	HP:0001557	Prenatal movement abnormality	3	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome			63
HP:0001197	HP:0001557	Prenatal movement abnormality	3	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0001197	HP:0001557	Prenatal movement abnormality	3	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0001197	HP:0025667	Fetal neck anomaly	3	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia			140
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia			140
HP:0001197	HP:0025667	Fetal neck anomaly	3	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia			140
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia			140
HP:0001197	HP:0001789	Hydrops fetalis	3	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0001197	HP:0034207	Abnormal fetal gastrointestinal system morphology	3	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0001197	HP:0034243	Abnormal fetal pulmonary morphology	3	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0001197	HP:0001789	Hydrops fetalis	3	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0001197	HP:0100768	Choriocarcinoma	3	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare		1
HP:0001197	HP:0001789	Hydrops fetalis	3	MECOM CL E G H	2122	3498	OMIM:616738	RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2			4
HP:0001197	HP:0012767	Abnormal placental size	3	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001197	HP:0012767	Abnormal placental size	3	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion			1
HP:0001197	HP:0012767	Abnormal placental size	3	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001197	HP:0001557	Prenatal movement abnormality	3	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset			158
HP:0001197	HP:0025667	Fetal neck anomaly	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0001197	HP:0001789	Hydrops fetalis	3	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional		39
HP:0001197	HP:0001557	Prenatal movement abnormality	3	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0001197	HP:0001557	Prenatal movement abnormality	3	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0001197	HP:0012767	Abnormal placental size	3	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0001197	HP:0025667	Fetal neck anomaly	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0001197	HP:0001789	Hydrops fetalis	3	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional		101
HP:0001197	HP:0001557	Prenatal movement abnormality	3	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2			134
HP:0001197	HP:0025667	Fetal neck anomaly	3	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0001197	HP:0034206	Abnormal fetal central nervous system morphology	3	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2			60
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2			60
HP:0001197	HP:0011438	Maternal teratogenic exposure	3	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional		12
HP:0001197	HP:0001557	Prenatal movement abnormality	3	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0001197	HP:0001557	Prenatal movement abnormality	3	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy			185
HP:0001197	HP:0001557	Prenatal movement abnormality	3	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy			7
HP:0001197	HP:0001196	Short umbilical cord	3	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.		72
HP:0001197	HP:0001557	Prenatal movement abnormality	3	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0001197	HP:0001557	Prenatal movement abnormality	3	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0001197	HP:0012767	Abnormal placental size	3	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0001197	HP:0001557	Prenatal movement abnormality	3	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0001197	HP:0032434	Delayed umbilical cord separation	3	MYD88 CL E G H	4615	7562	OMIM:612260	MYD88 DEFICIENCY; MYD88D			9
HP:0001197	HP:0001557	Prenatal movement abnormality	3	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy			19
HP:0001197	HP:0001557	Prenatal movement abnormality	3	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0001197	HP:0001557	Prenatal movement abnormality	3	MYH3 CL E G H	4621	7573	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040282 - Frequent		166
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0001197	HP:0001557	Prenatal movement abnormality	3	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1269
HP:0001197	HP:0001557	Prenatal movement abnormality	3	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy
HP:0001197	HP:0025667	Fetal neck anomaly	3	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0001197	HP:0001557	Prenatal movement abnormality	3	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0001197	HP:0034242	Abnormal fetal genitourinary system morphology	3	MYL9 CL E G H	10398	15754	OMIM:619365	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	MYL9 CL E G H	10398	15754	OMIM:619365	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0001197	HP:0001557	Prenatal movement abnormality	3	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome			5
HP:0001197	HP:0001557	Prenatal movement abnormality	3	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic
HP:0001197	HP:0001557	Prenatal movement abnormality	3	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes
HP:0001197	HP:0001557	Prenatal movement abnormality	3	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0001197	HP:0001557	Prenatal movement abnormality	3	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0001197	HP:0001557	Prenatal movement abnormality	3	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0001197	HP:0001557	Prenatal movement abnormality	3	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001197	HP:0001557	Prenatal movement abnormality	3	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0001197	HP:0001557	Prenatal movement abnormality	3	NALCN CL E G H	259232	19082	ORPHA:2053	Freeman-Sheldon syndrome	HP:0040282 - Frequent		48
HP:0001197	HP:0025667	Fetal neck anomaly	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0001197	HP:0025116	Fetal distress	3	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0001197	HP:0025116	Fetal distress	3	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0001197	HP:0025116	Fetal distress	3	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0001197	HP:0001557	Prenatal movement abnormality	3	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation
HP:0001197	HP:0001557	Prenatal movement abnormality	3	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
HP:0001197	HP:0001557	Prenatal movement abnormality	3	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
HP:0001197	HP:0001557	Prenatal movement abnormality	3	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
HP:0001197	HP:0025116	Fetal distress	3	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		7
HP:0001197	HP:0025116	Fetal distress	3	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		32
HP:0001197	HP:0025116	Fetal distress	3	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		1
HP:0001197	HP:0025116	Fetal distress	3	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		40
HP:0001197	HP:0025116	Fetal distress	3	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		26
HP:0001197	HP:0025116	Fetal distress	3	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		31
HP:0001197	HP:0025116	Fetal distress	3	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		50
HP:0001197	HP:0025116	Fetal distress	3	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		34
HP:0001197	HP:0025116	Fetal distress	3	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0001197	HP:0025116	Fetal distress	3	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional
HP:0001197	HP:0001789	Hydrops fetalis	3	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0001197	HP:0025116	Fetal distress	3	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		3
HP:0001197	HP:0025116	Fetal distress	3	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		9
HP:0001197	HP:0025116	Fetal distress	3	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		16
HP:0001197	HP:0025116	Fetal distress	3	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		81
HP:0001197	HP:0025116	Fetal distress	3	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		65
HP:0001197	HP:0025116	Fetal distress	3	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		22
HP:0001197	HP:0025116	Fetal distress	3	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		27
HP:0001197	HP:0025116	Fetal distress	3	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		21
HP:0001197	HP:0025116	Fetal distress	3	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		38
HP:0001197	HP:0025116	Fetal distress	3	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		42
HP:0001197	HP:0025116	Fetal distress	3	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		74
HP:0001197	HP:0025116	Fetal distress	3	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		27
HP:0001197	HP:0001557	Prenatal movement abnormality	3	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6			745
HP:0001197	HP:0001557	Prenatal movement abnormality	3	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0001197	HP:0001557	Prenatal movement abnormality	3	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy			745
HP:0001197	HP:0001557	Prenatal movement abnormality	3	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive			745
HP:0001197	HP:0001557	Prenatal movement abnormality	3	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy			745
HP:0001197	HP:0001557	Prenatal movement abnormality	3	NECAP1 CL E G H	25977	24539	OMIM:615833	Epileptic encephalopathy, early infantile, 21			1
HP:0001197	HP:0001557	Prenatal movement abnormality	3	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001197	HP:0011438	Maternal teratogenic exposure	3	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional		4
HP:0001197	HP:0001789	Hydrops fetalis	3	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	.		101
HP:0001197	HP:0001557	Prenatal movement abnormality	3	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0001197	HP:0001789	Hydrops fetalis	3	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10	.		9
HP:0001197	HP:0001557	Prenatal movement abnormality	3	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0001197	HP:0001789	Hydrops fetalis	3	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.		43
HP:0001197	HP:0001557	Prenatal movement abnormality	3	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0001197	HP:0001557	Prenatal movement abnormality	3	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction
HP:0001197	HP:0001557	Prenatal movement abnormality	3	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		494
HP:0001197	HP:0025667	Fetal neck anomaly	3	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0001197	HP:0100601	Eclampsia	3	NOS3 CL E G H	4846	7876	OMIM:189800	Preeclampsia/eclampsia 1	.		8
HP:0001197	HP:0100602	Preeclampsia	3	NOS3 CL E G H	4846	7876	OMIM:189800	Preeclampsia/eclampsia 1	.		8
HP:0001197	HP:0008071	Maternal hypertension	3	NOS3 CL E G H	4846	7876	OMIM:189800	Preeclampsia/eclampsia 1	.		8
HP:0001197	HP:0001557	Prenatal movement abnormality	3	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0001197	HP:0034207	Abnormal fetal gastrointestinal system morphology	3	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1			258
HP:0001197	HP:0034207	Abnormal fetal gastrointestinal system morphology	3	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2			33
HP:0001197	HP:0001789	Hydrops fetalis	3	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5			14
HP:0001197	HP:0100602	Preeclampsia	3	NR1H4 CL E G H	9971	7967	ORPHA:69665	Intrahepatic cholestasis of pregnancy	HP:0040283 - Occasional		14
HP:0001197	HP:0008071	Maternal hypertension	3	NR3C2 CL E G H	4306	7979	OMIM:605115	Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy			109
HP:0001197	HP:0025667	Fetal neck anomaly	3	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0001197	HP:0001557	Prenatal movement abnormality	3	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0001197	HP:0001557	Prenatal movement abnormality	3	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0001197	HP:0001557	Prenatal movement abnormality	3	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0001197	HP:0001789	Hydrops fetalis	3	NSF CL E G H	4905	8016	OMIM:619340	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 96; DEE96
HP:0001197	HP:0001557	Prenatal movement abnormality	3	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			8
HP:0001197	HP:0025116	Fetal distress	3	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		89
HP:0001197	HP:0001557	Prenatal movement abnormality	3	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0001197	HP:0001557	Prenatal movement abnormality	3	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0001197	HP:0001557	Prenatal movement abnormality	3	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4
HP:0001197	HP:0001557	Prenatal movement abnormality	3	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			1
HP:0001197	HP:0001557	Prenatal movement abnormality	3	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			121
HP:0001197	HP:0001557	Prenatal movement abnormality	3	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			121
HP:0001197	HP:0001557	Prenatal movement abnormality	3	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			121
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0001197	HP:0025667	Fetal neck anomaly	3	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome			1
HP:0001197	HP:0025667	Fetal neck anomaly	3	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2			201
HP:0001197	HP:0025116	Fetal distress	3	OSTM1 CL E G H	28962	21652	ORPHA:85179	Infantile osteopetrosis with neuroaxonal dysplasia	HP:0040283 - Occasional		73
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0001197	HP:0001557	Prenatal movement abnormality	3	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			14
HP:0001197	HP:0001557	Prenatal movement abnormality	3	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0001197	HP:0025667	Fetal neck anomaly	3	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0001197	HP:0025667	Fetal neck anomaly	3	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0001197	HP:0025667	Fetal neck anomaly	3	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0001197	HP:0025667	Fetal neck anomaly	3	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0001197	HP:0025667	Fetal neck anomaly	3	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0001197	HP:0025667	Fetal neck anomaly	3	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0001197	HP:0025667	Fetal neck anomaly	3	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0001197	HP:0001557	Prenatal movement abnormality	3	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0001197	HP:0025667	Fetal neck anomaly	3	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0001197	HP:0025667	Fetal neck anomaly	3	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0001197	HP:0025667	Fetal neck anomaly	3	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0001197	HP:0001557	Prenatal movement abnormality	3	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)			47
HP:0001197	HP:0025667	Fetal neck anomaly	3	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0001197	HP:0025667	Fetal neck anomaly	3	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0001197	HP:0025667	Fetal neck anomaly	3	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			8
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			20
HP:0001197	HP:0001196	Short umbilical cord	3	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.		37
HP:0001197	HP:0001557	Prenatal movement abnormality	3	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0001197	HP:0012767	Abnormal placental size	3	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0001197	HP:0001557	Prenatal movement abnormality	3	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome			86
HP:0001197	HP:0034243	Abnormal fetal pulmonary morphology	3	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0001197	HP:0034242	Abnormal fetal genitourinary system morphology	3	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis			11
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis			11
HP:0001197	HP:0001789	Hydrops fetalis	3	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0001197	HP:0034242	Abnormal fetal genitourinary system morphology	3	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0001197	HP:0001789	Hydrops fetalis	3	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0001197	HP:0025116	Fetal distress	3	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0001197	HP:0001557	Prenatal movement abnormality	3	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			36
HP:0001197	HP:0025667	Fetal neck anomaly	3	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0001197	HP:0025667	Fetal neck anomaly	3	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			84
HP:0001197	HP:0001557	Prenatal movement abnormality	3	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			57
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			6
HP:0001197	HP:0034207	Abnormal fetal gastrointestinal system morphology	3	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome			2
HP:0001197	HP:0001789	Hydrops fetalis	3	PKLR CL E G H	5313	9020	ORPHA:766	Hemolytic anemia due to red cell pyruvate kinase deficiency	HP:0040282 - Frequent		51
HP:0001197	HP:0001789	Hydrops fetalis	3	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells			51
HP:0001197	HP:0012767	Abnormal placental size	3	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation			3
HP:0001197	HP:0001789	Hydrops fetalis	3	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental	.		4
HP:0001197	HP:0001557	Prenatal movement abnormality	3	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1			105
HP:0001197	HP:0025116	Fetal distress	3	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent			6
HP:0001197	HP:0001557	Prenatal movement abnormality	3	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent		6
HP:0001197	HP:0025116	Fetal distress	3	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040282 - Frequent		6
HP:0001197	HP:0001789	Hydrops fetalis	3	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0001197	HP:0001557	Prenatal movement abnormality	3	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0001197	HP:0009775	Amniotic constriction ring	3	POMP CL E G H	51371	20330	OMIM:601952	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma	.		2
HP:0001197	HP:0008073	Low maternal circulating estriol concentration	3	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.		76
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis			76
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040284 - Very rare		76
HP:0001197	HP:0100602	Preeclampsia	3	PPARG CL E G H	5468	9236	OMIM:604367	Lipodystrophy, familial partial, type 3	.		42
HP:0001197	HP:0100601	Eclampsia	3	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional		42
HP:0001197	HP:0001557	Prenatal movement abnormality	3	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome
HP:0001197	HP:0001557	Prenatal movement abnormality	3	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			2
HP:0001197	HP:0001557	Prenatal movement abnormality	3	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome			7
HP:0001197	HP:0001557	Prenatal movement abnormality	3	PREPL CL E G H	9581	30228	ORPHA:163690	Hypotonia-cystinuria syndrome			7
HP:0001197	HP:0001789	Hydrops fetalis	3	PRKCD CL E G H	5580	9399	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare		10
HP:0001197	HP:0030921	5-minute APGAR score of 1	3	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040283 - Occasional		49
HP:0001197	HP:0030927	1-minute APGAR score of 0	3	PRPS1 CL E G H	5631	9462	ORPHA:423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	HP:0040283 - Occasional		49
HP:0001197	HP:0001557	Prenatal movement abnormality	3	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies			8
HP:0001197	HP:0001557	Prenatal movement abnormality	3	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2			27
HP:0001197	HP:0025667	Fetal neck anomaly	3	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form			27
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form			27
HP:0001197	HP:0025667	Fetal neck anomaly	3	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia			241
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia			241
HP:0001197	HP:0025667	Fetal neck anomaly	3	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia			241
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia			241
HP:0001197	HP:0001789	Hydrops fetalis	3	PTH1R CL E G H	5745	9608	ORPHA:50945	Blomstrand lethal chondrodysplasia	HP:0040282 - Frequent		58
HP:0001197	HP:0001789	Hydrops fetalis	3	PTH1R CL E G H	5745	9608	OMIM:215045	Chondrodysplasia, Blomstrand type	.		58
HP:0001197	HP:0025667	Fetal neck anomaly	3	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0001197	HP:0001557	Prenatal movement abnormality	3	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease			6
HP:0001197	HP:0001557	Prenatal movement abnormality	3	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001557	Prenatal movement abnormality	3	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0001197	HP:0001789	Hydrops fetalis	3	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0001197	HP:0032434	Delayed umbilical cord separation	3	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME			9
HP:0001197	HP:0032435	Neonatal omphalitis	3	RAC2 CL E G H	5880	9802	OMIM:608203	NEUTROPHIL IMMUNODEFICIENCY SYNDROME			9
HP:0001197	HP:0001557	Prenatal movement abnormality	3	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		25
HP:0001197	HP:0025667	Fetal neck anomaly	3	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0001197	HP:0025667	Fetal neck anomaly	3	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0001197	HP:0025723	Abnormal fetal skin morphology	3	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome			127
HP:0001197	HP:0025723	Abnormal fetal skin morphology	3	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome			50
HP:0001197	HP:0001557	Prenatal movement abnormality	3	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome			150
HP:0001197	HP:0001557	Prenatal movement abnormality	3	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0001197	HP:0001557	Prenatal movement abnormality	3	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2			73
HP:0001197	HP:0001557	Prenatal movement abnormality	3	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency			73
HP:0001197	HP:0001789	Hydrops fetalis	3	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation			88
HP:0001197	HP:0025667	Fetal neck anomaly	3	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0001197	HP:0001789	Hydrops fetalis	3	RASGRP1 CL E G H	10125	9878	ORPHA:3261	Autoimmune lymphoproliferative syndrome	HP:0040284 - Very rare
HP:0001197	HP:0032435	Neonatal omphalitis	3	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0001197	HP:0033712	Repeated implantation failure	3	REC114 CL E G H	283677	25065	OMIM:619176	OOCYTE MATURATION DEFECT 10; OOMD10
HP:0001197	HP:4000008	Formation of multiple pronuclei during fertilization	3	REC114 CL E G H	283677	25065	OMIM:619176	OOCYTE MATURATION DEFECT 10; OOMD10
HP:0001197	HP:0001557	Prenatal movement abnormality	3	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome			572
HP:0001197	HP:0025667	Fetal neck anomaly	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0001197	HP:0034207	Abnormal fetal gastrointestinal system morphology	3	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced			16
HP:0001197	HP:0034243	Abnormal fetal pulmonary morphology	3	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced			16
HP:0001197	HP:0001789	Hydrops fetalis	3	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced			16
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced			16
HP:0001197	HP:0001557	Prenatal movement abnormality	3	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0001197	HP:0025667	Fetal neck anomaly	3	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0001197	HP:0025723	Abnormal fetal skin morphology	3	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome			37
HP:0001197	HP:0011432	High maternal circulating alpha-fetoprotein concentration	3	RNF13 CL E G H	11342	10057	ORPHA:544503	RNF13-related severe early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001197	HP:0025667	Fetal neck anomaly	3	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III			15
HP:0001197	HP:0001789	Hydrops fetalis	3	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001197	HP:0025116	Fetal distress	3	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.		22
HP:0001197	HP:0001789	Hydrops fetalis	3	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001197	HP:0001789	Hydrops fetalis	3	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001197	HP:0001789	Hydrops fetalis	3	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001197	HP:0001789	Hydrops fetalis	3	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001197	HP:0001789	Hydrops fetalis	3	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001197	HP:0001789	Hydrops fetalis	3	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001197	HP:0001789	Hydrops fetalis	3	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0001197	HP:0001789	Hydrops fetalis	3	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0001197	HP:0001789	Hydrops fetalis	3	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0001197	HP:0001789	Hydrops fetalis	3	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001197	HP:0001789	Hydrops fetalis	3	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0001197	HP:0001789	Hydrops fetalis	3	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0001197	HP:0001789	Hydrops fetalis	3	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001197	HP:0001789	Hydrops fetalis	3	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001197	HP:0001789	Hydrops fetalis	3	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001197	HP:0001789	Hydrops fetalis	3	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001197	HP:0001789	Hydrops fetalis	3	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001197	HP:0001789	Hydrops fetalis	3	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001197	HP:0001789	Hydrops fetalis	3	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001197	HP:0025667	Fetal neck anomaly	3	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0001197	HP:0025667	Fetal neck anomaly	3	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0001197	HP:0012767	Abnormal placental size	3	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0001197	HP:0012767	Abnormal placental size	3	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
HP:0001197	HP:0012767	Abnormal placental size	3	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0001197	HP:0001557	Prenatal movement abnormality	3	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy			1200
HP:0001197	HP:0001557	Prenatal movement abnormality	3	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease			1200
HP:0001197	HP:0001557	Prenatal movement abnormality	3	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia			1200
HP:0001197	HP:0001557	Prenatal movement abnormality	3	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0001197	HP:0001557	Prenatal movement abnormality	3	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0001197	HP:0001789	Hydrops fetalis	3	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia	.		1200
HP:0001197	HP:0001557	Prenatal movement abnormality	3	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1200
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome			11
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			70
HP:0001197	HP:0001789	Hydrops fetalis	3	SCN5A CL E G H	6331	10593	OMIM:603830	Long QT syndrome 3			1134
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			357
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			144
HP:0001197	HP:0030657	Umbilical cord hematoma	3	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency	HP:0040283 - Occasional		39
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0001197	HP:0012767	Abnormal placental size	3	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			73
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome			57
HP:0001197	HP:0001789	Hydrops fetalis	3	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease	.		78
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			3
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes			28
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly			36
HP:0001197	HP:0100602	Preeclampsia	3	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040283 - Occasional		40
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28			5
HP:0001197	HP:0001789	Hydrops fetalis	3	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B	HP:0040281 - Very frequent		166
HP:0001197	HP:0025667	Fetal neck anomaly	3	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B			166
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B			166
HP:0001197	HP:0001789	Hydrops fetalis	3	SLC26A2 CL E G H	1836	10994	OMIM:600972	Achondrogenesis, type IB	.		166
HP:0001197	HP:0025723	Abnormal fetal skin morphology	3	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS			26
HP:0001197	HP:0025723	Abnormal fetal skin morphology	3	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome			26
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0001197	HP:0025667	Fetal neck anomaly	3	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0001197	HP:0001789	Hydrops fetalis	3	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome			55
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SLC3A1 CL E G H	6519	11025	ORPHA:163690	Hypotonia-cystinuria syndrome			55
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes			9
HP:0001197	HP:0025116	Fetal distress	3	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine			4
HP:0001197	HP:0009775	Amniotic constriction ring	3	SMARCAD1 CL E G H	56916	18398	ORPHA:1658	Absence of fingerprints-congenital milia syndrome	HP:0040283 - Occasional		6
HP:0001197	HP:0032434	Delayed umbilical cord separation	3	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0001197	HP:0032435	Neonatal omphalitis	3	SMARCD2 CL E G H	6603	11107	OMIM:617475	SPECIFIC GRANULE DEFICIENCY 2; SGD2			3
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		135
HP:0001197	HP:0025667	Fetal neck anomaly	3	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		91
HP:0001197	HP:0025667	Fetal neck anomaly	3	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I			22
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18			2
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation			37
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15			37
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1			37
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2			37
HP:0001197	HP:0025116	Fetal distress	3	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0001197	HP:0025667	Fetal neck anomaly	3	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0001197	HP:0025667	Fetal neck anomaly	3	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0001197	HP:0001789	Hydrops fetalis	3	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome			7
HP:0001197	HP:0001789	Hydrops fetalis	3	SOX18 CL E G H	54345	11194	ORPHA:69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	HP:0040283 - Occasional		7
HP:0001197	HP:0001789	Hydrops fetalis	3	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome			7
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0001197	HP:0025116	Fetal distress	3	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0001197	HP:0025667	Fetal neck anomaly	3	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0001197	HP:0001789	Hydrops fetalis	3	SPTA1 CL E G H	6708	11272	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		228
HP:0001197	HP:0001789	Hydrops fetalis	3	SPTB CL E G H	6710	11274	ORPHA:288	Hereditary elliptocytosis	HP:0040284 - Very rare		156
HP:0001197	HP:0008071	Maternal hypertension	3	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001197	HP:0025667	Fetal neck anomaly	3	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia			62
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia			62
HP:0001197	HP:0025667	Fetal neck anomaly	3	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0001197	HP:0100768	Choriocarcinoma	3	STK11 CL E G H	6794	11389	OMIM:273300	Testicular tumor, somatic	.		740
HP:0001197	HP:0100601	Eclampsia	3	STOX1 CL E G H	219736	23508	OMIM:609404	Preeclampsia/eclampsia 4	.		2
HP:0001197	HP:0100602	Preeclampsia	3	STOX1 CL E G H	219736	23508	OMIM:609404	Preeclampsia/eclampsia 4			2
HP:0001197	HP:0025667	Fetal neck anomaly	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type			1129
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type			1129
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			108
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			9
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes			4
HP:0001197	HP:0001557	Prenatal movement abnormality	3	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			123
HP:0001197	HP:0001789	Hydrops fetalis	3	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency	HP:0040282 - Frequent		34
HP:0001197	HP:0001789	Hydrops fetalis	3	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type	.		2
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0001197	HP:0025667	Fetal neck anomaly	3	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0001197	HP:0025667	Fetal neck anomaly	3	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0001197	HP:0034242	Abnormal fetal genitourinary system morphology	3	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0001197	HP:0001557	Prenatal movement abnormality	3	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0001197	HP:0025667	Fetal neck anomaly	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0001197	HP:0025667	Fetal neck anomaly	3	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0001197	HP:0025723	Abnormal fetal skin morphology	3	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1			98
HP:0001197	HP:0025116	Fetal distress	3	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		1
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0001197	HP:0001557	Prenatal movement abnormality	3	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0001197	HP:0025667	Fetal neck anomaly	3	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia
HP:0001197	HP:0025667	Fetal neck anomaly	3	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia
HP:0001197	HP:0025116	Fetal distress	3	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040283 - Occasional		4
HP:0001197	HP:0025667	Fetal neck anomaly	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0001197	HP:0001557	Prenatal movement abnormality	3	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0001197	HP:0100768	Choriocarcinoma	3	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040284 - Very rare		911
HP:0001197	HP:0100768	Choriocarcinoma	3	TP53 CL E G H	7157	11998	OMIM:151623	Li-Fraumeni syndrome	.		911
HP:0001197	HP:0009775	Amniotic constriction ring	3	TP63 CL E G H	8626	15979	ORPHA:1072	Ankyloblepharon filiforme adnatum-cleft palate syndrome	HP:0040283 - Occasional		140
HP:0001197	HP:0011438	Maternal teratogenic exposure	3	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040283 - Occasional		140
HP:0001197	HP:0001557	Prenatal movement abnormality	3	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0001197	HP:0001557	Prenatal movement abnormality	3	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0001197	HP:0001557	Prenatal movement abnormality	3	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			54
HP:0001197	HP:0001557	Prenatal movement abnormality	3	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0001197	HP:0001557	Prenatal movement abnormality	3	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0001197	HP:0001557	Prenatal movement abnormality	3	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy			108
HP:0001197	HP:0001557	Prenatal movement abnormality	3	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			108
HP:0001197	HP:0025667	Fetal neck anomaly	3	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0001197	HP:0001557	Prenatal movement abnormality	3	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0001197	HP:0001557	Prenatal movement abnormality	3	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0025667	Fetal neck anomaly	3	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia			31
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia			31
HP:0001197	HP:0025667	Fetal neck anomaly	3	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia			31
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia			31
HP:0001197	HP:0001789	Hydrops fetalis	3	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0001197	HP:0001789	Hydrops fetalis	3	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040281 - Very frequent		133
HP:0001197	HP:0025667	Fetal neck anomaly	3	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A			133
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A			133
HP:0001197	HP:0034207	Abnormal fetal gastrointestinal system morphology	3	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0001197	HP:0001789	Hydrops fetalis	3	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA	.		133
HP:0001197	HP:0025667	Fetal neck anomaly	3	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0001197	HP:0025667	Fetal neck anomaly	3	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0001197	HP:0033336	Zygotic cleavage failure	3	TRIP13 CL E G H	9319	12307	OMIM:619011	OOCYTE MATURATION DEFECT 9; OOMD9			2
HP:0001197	HP:0001557	Prenatal movement abnormality	3	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0001197	HP:0001557	Prenatal movement abnormality	3	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia			214
HP:0001197	HP:0001557	Prenatal movement abnormality	3	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive			214
HP:0001197	HP:0001557	Prenatal movement abnormality	3	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3			43
HP:0001197	HP:0001789	Hydrops fetalis	3	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001197	HP:0025116	Fetal distress	3	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001197	HP:0034243	Abnormal fetal pulmonary morphology	3	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0001197	HP:0034243	Abnormal fetal pulmonary morphology	3	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome			26
HP:0001197	HP:0001557	Prenatal movement abnormality	3	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0001197	HP:0025723	Abnormal fetal skin morphology	3	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0001197	HP:0025667	Fetal neck anomaly	3	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0001197	HP:0001557	Prenatal movement abnormality	3	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2			35
HP:0001197	HP:0001557	Prenatal movement abnormality	3	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			13
HP:0001197	HP:0001557	Prenatal movement abnormality	3	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11			1
HP:0001197	HP:0034190	Abnormal fetal cardiovascular physiology	3	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001197	HP:0001789	Hydrops fetalis	3	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria			31
HP:0001197	HP:0001789	Hydrops fetalis	3	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria			41
HP:0001197	HP:0025116	Fetal distress	3	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2			2
HP:0001197	HP:0001557	Prenatal movement abnormality	3	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0001197	HP:0030925	5-minute APGAR score of 5	3	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional		27
HP:0001197	HP:0030928	1-minute APGAR score of 1	3	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional		27
HP:0001197	HP:0001789	Hydrops fetalis	3	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional		6
HP:0001197	HP:0025667	Fetal neck anomaly	3	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0001197	HP:0001557	Prenatal movement abnormality	3	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic			2
HP:0001197	HP:0001557	Prenatal movement abnormality	3	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes			2
HP:0001197	HP:0025667	Fetal neck anomaly	3	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia			63
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia			63
HP:0001197	HP:0025667	Fetal neck anomaly	3	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia			63
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia			63
HP:0001197	HP:0001557	Prenatal movement abnormality	3	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0001197	HP:0025667	Fetal neck anomaly	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0001197	HP:0001789	Hydrops fetalis	3	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0001197	HP:0001789	Hydrops fetalis	3	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040282 - Frequent		136
HP:0001197	HP:0001789	Hydrops fetalis	3	WDR35 CL E G H	57539	29250	OMIM:614091	Short-Rib thoracic dysplasia 7 with or without polydactyly	.		136
HP:0001197	HP:0001557	Prenatal movement abnormality	3	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations			224
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive			12
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive			12
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive			12
HP:0001197	HP:0001789	Hydrops fetalis	3	WNT7A CL E G H	7476	12786	ORPHA:2879	Phocomelia, Schinzel type	HP:0040283 - Occasional		13
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001197	HP:0001557	Prenatal movement abnormality	3	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy			149
HP:0001197	HP:0001557	Prenatal movement abnormality	3	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy
HP:0001197	HP:0034242	Abnormal fetal genitourinary system morphology	3	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ZBTB42 CL E G H	100128927	32550	OMIM:616248	Lethal congenital contracture syndrome 6			1
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome			19
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0001197	HP:0034207	Abnormal fetal gastrointestinal system morphology	3	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked			39
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked			39
HP:0001197	HP:0001196	Short umbilical cord	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		83
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0001197	HP:0012767	Abnormal placental size	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0001197	HP:0001196	Short umbilical cord	3	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.		83
HP:0001197	HP:0001557	Prenatal movement abnormality	3	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0001197	HP:0025712	Spontaneous chorioamniotic separation	3	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0001197	HP:0012767	Abnormal placental size	3	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0001197	HP:0034207	Abnormal fetal gastrointestinal system morphology	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001197	HP:0010948	Abnormal fetal cardiovascular morphology	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001197	HP:0011403	Abnormal umbilical cord blood vessel morphology	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001197	HP:0011425	Fetal ultrasound soft marker	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001197	HP:0010483	Amniotic constriction rings of arms	4	CL E G H
HP:0001197	HP:0010495	Amniotic constriction rings of legs	4	CL E G H
HP:0001197	HP:0010878	Fetal cystic hygroma	4	CL E G H
HP:0001197	HP:0010947	Abnormality of ductus venosus blood flow	4	CL E G H
HP:0001197	HP:0010949	Abnormality of umbilical vein blood flow	4	CL E G H
HP:0001197	HP:0011426	Fetal choroid plexus cysts	4	CL E G H
HP:0001197	HP:0011427	Enlarged fetal cisterna magna	4	CL E G H
HP:0001197	HP:0011428	Short fetal femur length	4	CL E G H
HP:0001197	HP:0011429	Short fetal humerus length	4	CL E G H
HP:0001197	HP:0011430	Hypoplasia of fetal nasal bone	4	CL E G H
HP:0001197	HP:0011431	Fetal fifth finger clinodactyly	4	CL E G H
HP:0001197	HP:0012021	Persistent patent ductus venosus	4	CL E G H
HP:0001197	HP:0012022	Congenital portosystemic venous shunt	4	CL E G H
HP:0001197	HP:0025653	Placenta percreta	4	CL E G H
HP:0001197	HP:0025654	Placenta acreta	4	CL E G H
HP:0001197	HP:0025655	Placenta increta	4	CL E G H
HP:0001197	HP:0025663	Reduced fetal femur/foot length ratio	4	CL E G H
HP:0001197	HP:0025672	Fetal skin edema	4	CL E G H
HP:0001197	HP:0025674	Meconium pseudocyst	4	CL E G H
HP:0001197	HP:0025689	Extra-abdominal umbilical vein varix	4	CL E G H
HP:0001197	HP:0025690	Fetal intra-abdominal umbilical vein varix	4	CL E G H
HP:0001197	HP:0025701	Distended jugular lymphatic sacs	4	CL E G H
HP:0001197	HP:0025715	Abnormal umbilical artery doppler waveform during pregnancy	4	CL E G H
HP:0001197	HP:0025730	Foramen ovale aneurysm	4	CL E G H
HP:0001197	HP:0030658	Marginal umbilical cord insertion	4	CL E G H
HP:0001197	HP:0030659	Velamentous cord insertion	4	CL E G H
HP:0001197	HP:0030660	Furcate cord insertion	4	CL E G H
HP:0001197	HP:0031170	Female fetal virilization	4	CL E G H
HP:0001197	HP:0032269	Lemon sign	4	CL E G H
HP:0001197	HP:0032513	Four-vessel umbilical cord	4	CL E G H
HP:0001197	HP:0033043	Edematous chorionic villi	4	CL E G H
HP:0001197	HP:0033991	Vasa previa	4	CL E G H
HP:0001197	HP:0034072	Abnormal fetal long-bone echogenicity	4	CL E G H
HP:0001197	HP:0034191	Elevated fetal middle cerebral artery peak systolic velocity	4	CL E G H
HP:0001197	HP:0034196	Ductus venosus agenesis	4	CL E G H
HP:0001197	HP:0034217	Sonographic non-visualized fetal bladder	4	CL E G H
HP:0001197	HP:0034240	Fetal neck mass	4	CL E G H
HP:0001197	HP:0034244	Gastric pseudomass	4	CL E G H
HP:0001197	HP:0034246	Fetal scalp mass	4	CL E G H
HP:0001197	HP:0034247	Fetal lower urinary tract obstruction	4	CL E G H
HP:0001197	HP:0041095	Decreased middle cerebral artery pulsatility index	4	CL E G H
HP:0001197	HP:0410211	Abnormal blood gas level in cord blood	4	CL E G H
HP:0001197	HP:0001558	Decreased fetal movement	4	AARS1 CL E G H	16	20	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040281 - Very frequent		415
HP:0001197	HP:0001558	Decreased fetal movement	4	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0001197	HP:0001558	Decreased fetal movement	4	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0001197	HP:0001558	Decreased fetal movement	4	ACTA1 CL E G H	58	129	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		96
HP:0001197	HP:0001558	Decreased fetal movement	4	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		96
HP:0001197	HP:0001558	Decreased fetal movement	4	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	.		96
HP:0001197	HP:0001558	Decreased fetal movement	4	ACTA1 CL E G H	58	129	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		96
HP:0001197	HP:0001558	Decreased fetal movement	4	ACTA1 CL E G H	58	129	ORPHA:97240	Zebra body myopathy	HP:0040281 - Very frequent		96
HP:0001197	HP:0001558	Decreased fetal movement	4	ACTL6B CL E G H	51412	160	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0001197	HP:0007549	Desquamation of skin soon after birth	4	ADA CL E G H	100	186	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		75
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0001197	HP:0010880	Increased nuchal translucency	4	ADARB1 CL E G H	104	226	OMIM:618862	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, MICROCEPHALY, AND SEIZURES; NEDHYMS			1
HP:0001197	HP:0001558	Decreased fetal movement	4	ADGRG6 CL E G H	57211	13841	OMIM:616503	Lethal congenital contracture syndrome 9	.		5
HP:0001197	HP:0001558	Decreased fetal movement	4	AGRN CL E G H	375790	329	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		127
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik	.		58
HP:0001197	HP:0001558	Decreased fetal movement	4	ALG14 CL E G H	199857	28287	OMIM:619036	MYOPATHY, EPILEPSY, AND PROGRESSIVE CEREBRAL ATROPHY; MEPCA			12
HP:0001197	HP:0001558	Decreased fetal movement	4	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.		46
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0001197	HP:0001558	Decreased fetal movement	4	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0001197	HP:0001558	Decreased fetal movement	4	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il	.		93
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27			89
HP:0001197	HP:0001558	Decreased fetal movement	4	AP3B2 CL E G H	8120	567	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		7
HP:0001197	HP:0001558	Decreased fetal movement	4	ARV1 CL E G H	64801	29561	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0001197	HP:0001558	Decreased fetal movement	4	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0001197	HP:0001558	Decreased fetal movement	4	ASCL1 CL E G H	429	738	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional		15
HP:0001197	HP:0010952	Mild fetal ventriculomegaly	4	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0001197	HP:0010880	Increased nuchal translucency	4	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0001197	HP:0001558	Decreased fetal movement	4	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD			239
HP:0001197	HP:0001558	Decreased fetal movement	4	ATP1A2 CL E G H	477	800	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		239
HP:0001197	HP:0001558	Decreased fetal movement	4	ATP1A3 CL E G H	478	801	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		150
HP:0001197	HP:0001558	Decreased fetal movement	4	ATP6V1A CL E G H	523	851	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent		5
HP:0001197	HP:0001558	Decreased fetal movement	4	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040282 - Frequent		36
HP:0001197	HP:0010880	Increased nuchal translucency	4	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001197	HP:0010880	Increased nuchal translucency	4	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001197	HP:0001558	Decreased fetal movement	4	BICD2 CL E G H	23299	17208	ORPHA:363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy	HP:0040283 - Occasional		46
HP:0001197	HP:0001558	Decreased fetal movement	4	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	.		46
HP:0001197	HP:0001558	Decreased fetal movement	4	BIN1 CL E G H	274	1052	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		99
HP:0001197	HP:0001558	Decreased fetal movement	4	BIN1 CL E G H	274	1052	OMIM:255200	Myopathy, centronuclear, 2			99
HP:0001197	HP:0025705	Abnormal fetal nasal bone visualization	4	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0001197	HP:0010880	Increased nuchal translucency	4	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS	.		78
HP:0001197	HP:0010945	Fetal pyelectasis	4	BNC2 CL E G H	54796	30988	ORPHA:93110	Posterior urethral valve	HP:0040283 - Occasional		22
HP:0001197	HP:0010880	Increased nuchal translucency	4	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional
HP:0001197	HP:0010880	Increased nuchal translucency	4	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent		5
HP:0001197	HP:0010880	Increased nuchal translucency	4	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent		76
HP:0001197	HP:0010880	Increased nuchal translucency	4	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent
HP:0001197	HP:0010880	Increased nuchal translucency	4	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	C9ORF72 CL E G H	203228	28337	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		56
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	C9ORF72 CL E G H	203228	28337	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		56
HP:0001197	HP:0001558	Decreased fetal movement	4	CACNA1A CL E G H	773	1388	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		449
HP:0001197	HP:0001558	Decreased fetal movement	4	CACNA1B CL E G H	774	1389	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		5
HP:0001197	HP:0001558	Decreased fetal movement	4	CACNA2D1 CL E G H	781	1399	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		59
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	CALCRL CL E G H	10203	16709	OMIM:618773	LYMPHATIC MALFORMATION 8; LMPHM8			3
HP:0001197	HP:0001558	Decreased fetal movement	4	CAMKMT CL E G H	79823	26276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040283 - Occasional		1
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	CARS2 CL E G H	79587	25695	ORPHA:477774	Combined oxidative phosphorylation defect type 27	HP:0040283 - Occasional		35
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		317
HP:0001197	HP:0001558	Decreased fetal movement	4	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation	.		1
HP:0001197	HP:0001195	Single umbilical artery	4	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040283 - Occasional		33
HP:0001197	HP:0001558	Decreased fetal movement	4	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001197	HP:0010945	Fetal pyelectasis	4	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001197	HP:0010952	Mild fetal ventriculomegaly	4	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001197	HP:0001558	Decreased fetal movement	4	CDK19 CL E G H	23097	19338	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001197	HP:0006266	Small placenta	4	CDKN1C CL E G H	1028	1786	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		114
HP:0001197	HP:0001558	Decreased fetal movement	4	CELF2 CL E G H	10659	2550	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001197	HP:0010880	Increased nuchal translucency	4	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent		17
HP:0001197	HP:0001558	Decreased fetal movement	4	CHAT CL E G H	1103	1912	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		65
HP:0001197	HP:0007549	Desquamation of skin soon after birth	4	CHD7 CL E G H	55636	20626	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		515
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	CHMP2B CL E G H	25978	24537	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		42
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	CHMP2B CL E G H	25978	24537	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		42
HP:0001197	HP:0001558	Decreased fetal movement	4	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type			74
HP:0001197	HP:0001558	Decreased fetal movement	4	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type			88
HP:0001197	HP:0001558	Decreased fetal movement	4	CHRND CL E G H	1144	1965	OMIM:616322	Myasthenic syndrome, congenital, 3B, fast-channel	HP:0040283 - Occasional		88
HP:0001197	HP:0001558	Decreased fetal movement	4	CHRNE CL E G H	1145	1966	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.		139
HP:0001197	HP:0001558	Decreased fetal movement	4	CHRNG CL E G H	1146	1967	OMIM:265000	Multiple pterygium syndrome, escobar variant	.		68
HP:0001197	HP:0001558	Decreased fetal movement	4	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type			68
HP:0001197	HP:0001558	Decreased fetal movement	4	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome			3
HP:0001197	HP:0010945	Fetal pyelectasis	4	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0001197	HP:0010880	Increased nuchal translucency	4	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001197	HP:0001558	Decreased fetal movement	4	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0001197	HP:0001558	Decreased fetal movement	4	CLTC CL E G H	1213	2092	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0001197	HP:0001558	Decreased fetal movement	4	CNKSR2 CL E G H	22866	19701	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		18
HP:0001197	HP:0001558	Decreased fetal movement	4	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north	.		40
HP:0001197	HP:0001558	Decreased fetal movement	4	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7	.		9
HP:0001197	HP:0001558	Decreased fetal movement	4	CNTNAP1 CL E G H	8506	8011	OMIM:618186	Neuropathy, congenital hypomyelinating, 3	.		9
HP:0001197	HP:0025705	Abnormal fetal nasal bone visualization	4	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0001197	HP:0001558	Decreased fetal movement	4	COL12A1 CL E G H	1303	2188	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		65
HP:0001197	HP:0001558	Decreased fetal movement	4	COL13A1 CL E G H	1305	2190	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		6
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	COL1A1 CL E G H	1277	2197	OMIM:166210	Osteogenesis imperfecta, type IIA	.		373
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	COL1A2 CL E G H	1278	2198	OMIM:166210	Osteogenesis imperfecta, type IIA	.		243
HP:0001197	HP:0001558	Decreased fetal movement	4	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional		3
HP:0001197	HP:0001558	Decreased fetal movement	4	COL6A1 CL E G H	1291	2211	OMIM:158810	Bethlem myopathy 1	.		442
HP:0001197	HP:0001558	Decreased fetal movement	4	COL6A1 CL E G H	1291	2211	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		442
HP:0001197	HP:0001558	Decreased fetal movement	4	COL6A2 CL E G H	1292	2212	OMIM:158810	Bethlem myopathy 1	.		478
HP:0001197	HP:0001558	Decreased fetal movement	4	COL6A2 CL E G H	1292	2212	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		478
HP:0001197	HP:0001558	Decreased fetal movement	4	COL6A3 CL E G H	1293	2213	OMIM:158810	Bethlem myopathy 1	.		702
HP:0001197	HP:0001558	Decreased fetal movement	4	COL6A3 CL E G H	1293	2213	ORPHA:75840	Congenital muscular dystrophy, Ullrich type	HP:0040282 - Frequent		702
HP:0001197	HP:0001558	Decreased fetal movement	4	COX15 CL E G H	1355	2263	OMIM:615119	Mitochondrial complex IV deficiency, nuclear type 6	.		104
HP:0001197	HP:0001558	Decreased fetal movement	4	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		1
HP:0001197	HP:0001558	Decreased fetal movement	4	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.		1
HP:0001197	HP:0001558	Decreased fetal movement	4	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0001197	HP:0001558	Decreased fetal movement	4	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0001197	HP:0010880	Increased nuchal translucency	4	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001197	HP:0001558	Decreased fetal movement	4	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.		2
HP:0001197	HP:0001558	Decreased fetal movement	4	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	CTSA CL E G H	5476	9251	OMIM:256540	Galactosialidosis			51
HP:0001197	HP:0001558	Decreased fetal movement	4	CYFIP2 CL E G H	26999	13760	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0001197	HP:0001558	Decreased fetal movement	4	DALRD3 CL E G H	55152	25536	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001197	HP:0007549	Desquamation of skin soon after birth	4	DCLRE1C CL E G H	64421	17642	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		94
HP:0001197	HP:0001195	Single umbilical artery	4	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001197	HP:0001558	Decreased fetal movement	4	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		33
HP:0001197	HP:0001558	Decreased fetal movement	4	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0001197	HP:0010880	Increased nuchal translucency	4	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040281 - Very frequent		159
HP:0001197	HP:0001558	Decreased fetal movement	4	DHDDS CL E G H	79947	20603	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		47
HP:0001197	HP:0034208	Fetal intracranial hemorrhage	4	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0001197	HP:0010880	Increased nuchal translucency	4	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0001197	HP:0006267	Large placenta	4	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040281 - Very frequent		1
HP:0001197	HP:0006267	Large placenta	4	DLK1 CL E G H	8788	2907	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent		1
HP:0001197	HP:0006267	Large placenta	4	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:0001197	HP:0001558	Decreased fetal movement	4	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0001197	HP:0001558	Decreased fetal movement	4	DMPK CL E G H	1760	2933	OMIM:160900	Myotonic dystrophy 1	.		152
HP:0001197	HP:0001558	Decreased fetal movement	4	DNA2 CL E G H	1763	2939	ORPHA:352470	DNA2-related mitochondrial DNA deletion syndrome	HP:0040282 - Frequent		41
HP:0001197	HP:0010880	Increased nuchal translucency	4	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001197	HP:0001558	Decreased fetal movement	4	DNM1 CL E G H	1759	2972	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		72
HP:0001197	HP:0001558	Decreased fetal movement	4	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1	.		94
HP:0001197	HP:0001558	Decreased fetal movement	4	DNM2 CL E G H	1785	2974	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		167
HP:0001197	HP:0001558	Decreased fetal movement	4	DNM2 CL E G H	1785	2974	OMIM:615368	Lethal congenital contracture syndrome 5	.		167
HP:0001197	HP:0010880	Increased nuchal translucency	4	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001197	HP:0001558	Decreased fetal movement	4	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence			91
HP:0001197	HP:0001558	Decreased fetal movement	4	DOK7 CL E G H	285489	26594	OMIM:618389	FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3			91
HP:0001197	HP:0001558	Decreased fetal movement	4	DOK7 CL E G H	285489	26594	OMIM:254300	Myasthenia, limb-girdle, familial	HP:0040283 - Occasional		91
HP:0001197	HP:0001558	Decreased fetal movement	4	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040284 - Very rare		38
HP:0001197	HP:0001195	Single umbilical artery	4	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001197	HP:0001558	Decreased fetal movement	4	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001197	HP:0001558	Decreased fetal movement	4	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001197	HP:0010952	Mild fetal ventriculomegaly	4	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0001197	HP:0001558	Decreased fetal movement	4	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS			25
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent		51
HP:0001197	HP:0001558	Decreased fetal movement	4	EEF1A2 CL E G H	1917	3192	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		60
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	EFNB1 CL E G H	1947	3226	ORPHA:1520	Craniofrontonasal dysplasia	HP:0040282 - Frequent		27
HP:0001197	HP:0010880	Increased nuchal translucency	4	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001197	HP:0001791	Fetal ascites	4	EIF5A CL E G H	1984	3300	OMIM:619376	FAUNDES-BANKA SYNDROME; FABAS
HP:0001197	HP:0010880	Increased nuchal translucency	4	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040281 - Very frequent		151
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040284 - Very rare		3
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7	.		3
HP:0001197	HP:0001558	Decreased fetal movement	4	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2	.		12
HP:0001197	HP:0001558	Decreased fetal movement	4	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3	.		83
HP:0001197	HP:0001558	Decreased fetal movement	4	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0001197	HP:0001558	Decreased fetal movement	4	EXOSC9 CL E G H	5393	9137	OMIM:618065	Pontocerebellar hypoplasia, type 1D	.
HP:0001197	HP:0001195	Single umbilical artery	4	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0001197	HP:0010963	Absence of stomach bubble on fetal sonography	4	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked			58
HP:0001197	HP:0001195	Single umbilical artery	4	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040283 - Occasional		58
HP:0001197	HP:0001195	Single umbilical artery	4	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001197	HP:0001558	Decreased fetal movement	4	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0001197	HP:0001558	Decreased fetal movement	4	FGF12 CL E G H	2257	3668	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0001197	HP:0010945	Fetal pyelectasis	4	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0001197	HP:0001558	Decreased fetal movement	4	FGF13 CL E G H	2258	3670	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0001197	HP:0010880	Increased nuchal translucency	4	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040282 - Frequent		145
HP:0001197	HP:0010880	Increased nuchal translucency	4	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2	HP:0040282 - Frequent		145
HP:0001197	HP:0034226	Champagne cork sign	4	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0001197	HP:0001558	Decreased fetal movement	4	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.		145
HP:0001197	HP:0001558	Decreased fetal movement	4	FGFR3 CL E G H	2261	3690	OMIM:187601	Thanatophoric dysplasia, type II	.		145
HP:0001197	HP:0001558	Decreased fetal movement	4	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0001197	HP:0010880	Increased nuchal translucency	4	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional		111
HP:0001197	HP:0001558	Decreased fetal movement	4	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2			13
HP:0001197	HP:0010880	Increased nuchal translucency	4	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001197	HP:0001558	Decreased fetal movement	4	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	FLT4 CL E G H	2324	3767	OMIM:153100	Lymphatic malformation 1			90
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001197	HP:0001195	Single umbilical artery	4	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001197	HP:0001195	Single umbilical artery	4	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional		61
HP:0001197	HP:0001558	Decreased fetal movement	4	FXR1 CL E G H	8087	4023	OMIM:618823	MYOPATHY, CONGENITAL PROXIMAL, WITH MINICORE LESIONS; MYOPMIL
HP:0001197	HP:0001558	Decreased fetal movement	4	FZR1 CL E G H	51343	24824	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001197	HP:0001558	Decreased fetal movement	4	GABBR2 CL E G H	9568	4507	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		5
HP:0001197	HP:0001558	Decreased fetal movement	4	GABRA2 CL E G H	2555	4076	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		4
HP:0001197	HP:0001558	Decreased fetal movement	4	GABRA5 CL E G H	2558	4079	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001197	HP:0001558	Decreased fetal movement	4	GABRB2 CL E G H	2561	4082	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		44
HP:0001197	HP:0001558	Decreased fetal movement	4	GABRG2 CL E G H	2566	4087	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		139
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		29
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	GATA1 CL E G H	2623	4170	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040282 - Frequent		29
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.		29
HP:0001197	HP:0025656	Prenatal double bubble sign	4	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001197	HP:0025705	Abnormal fetal nasal bone visualization	4	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001197	HP:0001195	Single umbilical artery	4	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001197	HP:0001195	Single umbilical artery	4	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040284 - Very rare		37
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42			1
HP:0001197	HP:0001558	Decreased fetal movement	4	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease	HP:0040281 - Very frequent
HP:0001197	HP:0001558	Decreased fetal movement	4	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0001197	HP:0007549	Desquamation of skin soon after birth	4	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.	HP:0003577 - Congenital onset
HP:0001197	HP:0001558	Decreased fetal movement	4	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV	.		86
HP:0001197	HP:0001558	Decreased fetal movement	4	GFPT1 CL E G H	2673	4241	OMIM:608931	Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency	.		128
HP:0001197	HP:0001558	Decreased fetal movement	4	GGPS1 CL E G H	9453	4249	OMIM:619518	MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME; MDHLO
HP:0001197	HP:0010491	Digital constriction ring	4	GJA1 CL E G H	2697	4274	ORPHA:1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia			68
HP:0001197	HP:0001558	Decreased fetal movement	4	GLDN CL E G H	342035	29514	OMIM:617194	Lethal congenital contracture syndrome 11	.		6
HP:0001197	HP:0001558	Decreased fetal movement	4	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease			45
HP:0001197	HP:0010519	Increased fetal movement	4	GLRB CL E G H	2743	4329	OMIM:614619	Hyperekplexia 2			46
HP:0001197	HP:0001558	Decreased fetal movement	4	GMPPB CL E G H	29925	22932	OMIM:615351	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14	.		34
HP:0001197	HP:0001195	Single umbilical artery	4	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001197	HP:0001558	Decreased fetal movement	4	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001197	HP:0001791	Fetal ascites	4	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001197	HP:0010943	Echogenic fetal bowel	4	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001197	HP:0010880	Increased nuchal translucency	4	GPC6 CL E G H	10082	4454	ORPHA:93329	Autosomal recessive omodysplasia	HP:0040283 - Occasional		99
HP:0001197	HP:0001558	Decreased fetal movement	4	GPKOW CL E G H	27238	30677	ORPHA:2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	HP:0040281 - Very frequent
HP:0001197	HP:0001558	Decreased fetal movement	4	GRIN2D CL E G H	2906	4588	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	GRN CL E G H	2896	4601	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		126
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	GRN CL E G H	2896	4601	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		126
HP:0001197	HP:0010880	Increased nuchal translucency	4	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001197	HP:0010880	Increased nuchal translucency	4	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001197	HP:0010880	Increased nuchal translucency	4	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001197	HP:0001558	Decreased fetal movement	4	H19 CL E G H	283120	4713	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional		4
HP:0001197	HP:0001558	Decreased fetal movement	4	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0001197	HP:0001558	Decreased fetal movement	4	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0001197	HP:0001558	Decreased fetal movement	4	HCN1 CL E G H	348980	4845	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		54
HP:0001197	HP:0010880	Increased nuchal translucency	4	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		37
HP:0001197	HP:0001558	Decreased fetal movement	4	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome			38
HP:0001197	HP:0007549	Desquamation of skin soon after birth	4	HLCS CL E G H	3141	4976	ORPHA:79242	Holocarboxylase synthetase deficiency	HP:0040283 - Occasional		148
HP:0001197	HP:0006266	Small placenta	4	HMGA2 CL E G H	8091	5009	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		2
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	HNRNPK CL E G H	3190	5044	OMIM:616580	Au-Kline syndrome	.		8
HP:0001197	HP:0010880	Increased nuchal translucency	4	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040282 - Frequent		8
HP:0001197	HP:0010880	Increased nuchal translucency	4	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040282 - Frequent		8
HP:0001197	HP:0001195	Single umbilical artery	4	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040283 - Occasional		25
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040282 - Frequent		113
HP:0001197	HP:0001791	Fetal ascites	4	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency	.		98
HP:0001197	HP:0001195	Single umbilical artery	4	HSPG2 CL E G H	3339	5273	OMIM:224410	Dyssegmental dysplasia, Silverman-Handmaker type	.		345
HP:0001197	HP:0001195	Single umbilical artery	4	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional		345
HP:0001197	HP:0032548	Increased placental thickness	4	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional		345
HP:0001197	HP:0006266	Small placenta	4	IGF1 CL E G H	3479	5464	ORPHA:73272	Growth delay due to insulin-like growth factor type 1 deficiency	HP:0040282 - Frequent		91
HP:0001197	HP:0001558	Decreased fetal movement	4	IGF2 CL E G H	3481	5466	ORPHA:231144	Silver-Russell syndrome due to 11p15 microduplication	HP:0040283 - Occasional		9
HP:0001197	HP:0006266	Small placenta	4	IGF2 CL E G H	3481	5466	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		9
HP:0001197	HP:0001558	Decreased fetal movement	4	IGHMBP2 CL E G H	3508	5542	OMIM:604320	Spinal muscular atrophy, distal, autosomal recessive, 1	.		209
HP:0001197	HP:0001558	Decreased fetal movement	4	IL2RB CL E G H	3560	6009	OMIM:618495	Immunodeficiency 63 with lymphoproliferation and autoimmunity	HP:0040284 - Very rare
HP:0001197	HP:0007549	Desquamation of skin soon after birth	4	IL2RG CL E G H	3561	6010	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		48
HP:0001197	HP:0007549	Desquamation of skin soon after birth	4	IL7R CL E G H	3575	6024	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		94
HP:0001197	HP:0001558	Decreased fetal movement	4	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001558	Decreased fetal movement	4	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		119
HP:0001197	HP:0001558	Decreased fetal movement	4	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0001197	HP:0010945	Fetal pyelectasis	4	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional		283
HP:0001197	HP:0010945	Fetal pyelectasis	4	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional		283
HP:0001197	HP:0001558	Decreased fetal movement	4	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0001197	HP:0001558	Decreased fetal movement	4	KCNA2 CL E G H	3737	6220	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		13
HP:0001197	HP:0001558	Decreased fetal movement	4	KCNB1 CL E G H	3745	6231	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		65
HP:0001197	HP:0001558	Decreased fetal movement	4	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0001197	HP:0001558	Decreased fetal movement	4	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8			28
HP:0001197	HP:0001558	Decreased fetal movement	4	KLHL40 CL E G H	131377	30372	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		28
HP:0001197	HP:0001558	Decreased fetal movement	4	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0001197	HP:0001558	Decreased fetal movement	4	KLHL41 CL E G H	10324	16905	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		13
HP:0001197	HP:0001558	Decreased fetal movement	4	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9			13
HP:0001197	HP:0001558	Decreased fetal movement	4	KLHL41 CL E G H	10324	16905	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		13
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		196
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0001197	HP:0006267	Large placenta	4	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0001197	HP:0010880	Increased nuchal translucency	4	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0001197	HP:0010943	Echogenic fetal bowel	4	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia			70
HP:0001197	HP:0001558	Decreased fetal movement	4	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.		2
HP:0001197	HP:0001558	Decreased fetal movement	4	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		2
HP:0001197	HP:0001558	Decreased fetal movement	4	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.		6
HP:0001197	HP:0007549	Desquamation of skin soon after birth	4	LIG4 CL E G H	3981	6601	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		88
HP:0001197	HP:0010880	Increased nuchal translucency	4	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001197	HP:0001558	Decreased fetal movement	4	LMNA CL E G H	4000	6636	ORPHA:157973	Congenital muscular dystrophy due to LMNA mutation	HP:0040283 - Occasional		645
HP:0001197	HP:0001558	Decreased fetal movement	4	LMNA CL E G H	4000	6636	OMIM:613205	Muscular dystrophy, congenital, lmna-related	.		645
HP:0001197	HP:0001558	Decreased fetal movement	4	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		645
HP:0001197	HP:0006266	Small placenta	4	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		645
HP:0001197	HP:0006267	Large placenta	4	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		645
HP:0001197	HP:0001558	Decreased fetal movement	4	LMNA CL E G H	4000	6636	OMIM:619793	RESTRICTIVE DERMOPATHY 2; RSDM2			645
HP:0001197	HP:0001558	Decreased fetal movement	4	LMOD3 CL E G H	56203	6649	OMIM:616165	Nemaline myopathy 10	.		11
HP:0001197	HP:0001558	Decreased fetal movement	4	LMOD3 CL E G H	56203	6649	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		11
HP:0001197	HP:0010491	Digital constriction ring	4	LORICRIN CL E G H	4014	6663	ORPHA:79395	Keratoderma hereditarium mutilans with ichthyosis
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		43
HP:0001197	HP:0010880	Increased nuchal translucency	4	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0001197	HP:0010880	Increased nuchal translucency	4	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0001197	HP:0001558	Decreased fetal movement	4	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent		63
HP:0001197	HP:0001558	Decreased fetal movement	4	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome			63
HP:0001197	HP:0001558	Decreased fetal movement	4	MAGEL2 CL E G H	54551	6814	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent		63
HP:0001197	HP:0001558	Decreased fetal movement	4	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		63
HP:0001197	HP:0001558	Decreased fetal movement	4	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		63
HP:0001197	HP:0001558	Decreased fetal movement	4	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		63
HP:0001197	HP:0001558	Decreased fetal movement	4	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	.		63
HP:0001197	HP:0001558	Decreased fetal movement	4	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0001197	HP:0001558	Decreased fetal movement	4	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	MAPT CL E G H	4137	6893	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		140
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	MAPT CL E G H	4137	6893	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		140
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001197	HP:0001195	Single umbilical artery	4	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040283 - Occasional		3
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0001197	HP:0001791	Fetal ascites	4	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0001197	HP:0025671	Fetal pericardial effusion	4	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0001197	HP:0025676	Fetal pleural effusion	4	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0001197	HP:0006267	Large placenta	4	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040281 - Very frequent		1
HP:0001197	HP:0006267	Large placenta	4	MEG3 CL E G H	55384	14575	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent		1
HP:0001197	HP:0006267	Large placenta	4	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:0001197	HP:0001558	Decreased fetal movement	4	MEGF10 CL E G H	84466	29634	OMIM:614399	Myopathy, areflexia, respiratory distress, and dysphagia, early-onset	.		158
HP:0001197	HP:0010880	Increased nuchal translucency	4	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001197	HP:0001558	Decreased fetal movement	4	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome			5
HP:0001197	HP:0001558	Decreased fetal movement	4	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001195	Single umbilical artery	4	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.		127
HP:0001197	HP:0006267	Large placenta	4	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.		127
HP:0001197	HP:0010880	Increased nuchal translucency	4	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001197	HP:0001558	Decreased fetal movement	4	MPZ CL E G H	4359	7225	OMIM:618184	Neuropathy, congenital hypomyelinating, 2	.		134
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0001197	HP:0010952	Mild fetal ventriculomegaly	4	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2			60
HP:0001197	HP:0001558	Decreased fetal movement	4	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.		185
HP:0001197	HP:0001558	Decreased fetal movement	4	MTM1 CL E G H	4534	7448	ORPHA:596	X-linked centronuclear myopathy			185
HP:0001197	HP:0001558	Decreased fetal movement	4	MTMR14 CL E G H	64419	26190	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		7
HP:0001197	HP:0001558	Decreased fetal movement	4	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence			72
HP:0001197	HP:0001558	Decreased fetal movement	4	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0001197	HP:0006266	Small placenta	4	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.		72
HP:0001197	HP:0001558	Decreased fetal movement	4	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.		35
HP:0001197	HP:0001558	Decreased fetal movement	4	MYF6 CL E G H	4618	7566	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		19
HP:0001197	HP:0001558	Decreased fetal movement	4	MYH3 CL E G H	4621	7573	OMIM:193700	Arthrogryposis, distal, type 2A			166
HP:0001197	HP:0001195	Single umbilical artery	4	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0001197	HP:0001558	Decreased fetal movement	4	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1269
HP:0001197	HP:0001558	Decreased fetal movement	4	MYL1 CL E G H	4632	7582	OMIM:618414	Myopathy, congenital, with fast-twitch (type ii) fiber atrophy	.
HP:0001197	HP:0010880	Increased nuchal translucency	4	MYL11 CL E G H	29895	29824	OMIM:619110	ARTHROGRYPOSIS, DISTAL, TYPE 1C; DA1C
HP:0001197	HP:0001558	Decreased fetal movement	4	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0001197	HP:0010945	Fetal pyelectasis	4	MYL9 CL E G H	10398	15754	OMIM:619365	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 4; MMIHS4
HP:0001197	HP:0001558	Decreased fetal movement	4	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.		5
HP:0001197	HP:0001558	Decreased fetal movement	4	MYO9A CL E G H	4649	7608	OMIM:618198	Myasthenic syndrome, congenital, 24, presynaptic	.
HP:0001197	HP:0001558	Decreased fetal movement	4	MYO9A CL E G H	4649	7608	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent
HP:0001197	HP:0001558	Decreased fetal movement	4	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0001197	HP:0001558	Decreased fetal movement	4	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0001197	HP:0001558	Decreased fetal movement	4	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0001197	HP:0001558	Decreased fetal movement	4	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001197	HP:0001558	Decreased fetal movement	4	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0001197	HP:0010880	Increased nuchal translucency	4	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0001197	HP:0001558	Decreased fetal movement	4	NDN CL E G H	4692	7675	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent
HP:0001197	HP:0001558	Decreased fetal movement	4	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional
HP:0001197	HP:0001558	Decreased fetal movement	4	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional
HP:0001197	HP:0001558	Decreased fetal movement	4	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0001197	HP:0001558	Decreased fetal movement	4	NEB CL E G H	4703	7720	OMIM:619334	ARTHROGRYPOSIS MULTIPLEX CONGENITA 6; AMC6			745
HP:0001197	HP:0001558	Decreased fetal movement	4	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0001197	HP:0001558	Decreased fetal movement	4	NEB CL E G H	4703	7720	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		745
HP:0001197	HP:0001558	Decreased fetal movement	4	NEB CL E G H	4703	7720	OMIM:256030	Nemaline myopathy 2, autosomal recessive	.		745
HP:0001197	HP:0001558	Decreased fetal movement	4	NEB CL E G H	4703	7720	ORPHA:171430	Severe congenital nemaline myopathy	HP:0040282 - Frequent		745
HP:0001197	HP:0001558	Decreased fetal movement	4	NECAP1 CL E G H	25977	24539	OMIM:615833	Epileptic encephalopathy, early infantile, 21	.		1
HP:0001197	HP:0001558	Decreased fetal movement	4	NECAP1 CL E G H	25977	24539	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0001197	HP:0001558	Decreased fetal movement	4	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0001197	HP:0001558	Decreased fetal movement	4	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent
HP:0001197	HP:0010519	Increased fetal movement	4	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98			52
HP:0001197	HP:0001558	Decreased fetal movement	4	NFASC CL E G H	23114	29866	OMIM:618356	Neurodevelopmental disorder with central and peripheral motor dysfunction	HP:0040284 - Very rare
HP:0001197	HP:0010880	Increased nuchal translucency	4	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		494
HP:0001197	HP:0001558	Decreased fetal movement	4	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome			1
HP:0001197	HP:0001791	Fetal ascites	4	NPC1 CL E G H	4864	7897	OMIM:257220	Niemann-pick disease, type C1	.		258
HP:0001197	HP:0001791	Fetal ascites	4	NPC2 CL E G H	10577	14537	OMIM:607625	Niemann-pick disease, type C2	.		33
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	NR1H4 CL E G H	9971	7967	OMIM:617049	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 5; PFIC5			14
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		102
HP:0001197	HP:0001195	Single umbilical artery	4	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0001197	HP:0001558	Decreased fetal movement	4	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0001197	HP:0001558	Decreased fetal movement	4	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.		118
HP:0001197	HP:0001558	Decreased fetal movement	4	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		118
HP:0001197	HP:0001558	Decreased fetal movement	4	NTRK2 CL E G H	4915	8032	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		8
HP:0001197	HP:0001558	Decreased fetal movement	4	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0001197	HP:0001558	Decreased fetal movement	4	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0001197	HP:0001558	Decreased fetal movement	4	NUP88 CL E G H	4927	8067	OMIM:618393	Fetal akinesia deformation sequence 4	.
HP:0001197	HP:0001558	Decreased fetal movement	4	NUS1 CL E G H	116150	21042	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		1
HP:0001197	HP:0001558	Decreased fetal movement	4	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		121
HP:0001197	HP:0001558	Decreased fetal movement	4	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		121
HP:0001197	HP:0001558	Decreased fetal movement	4	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		121
HP:0001197	HP:0001558	Decreased fetal movement	4	ODC1 CL E G H	4953	8109	OMIM:619075	BACHMANN-BUPP SYNDROME; BABS			1
HP:0001197	HP:0010880	Increased nuchal translucency	4	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional		1
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	OFD1 CL E G H	8481	2567	OMIM:300209	Simpson-golabi-behmel syndrome, type 2	.		201
HP:0001197	HP:0001195	Single umbilical artery	4	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional		24
HP:0001197	HP:0001195	Single umbilical artery	4	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0001197	HP:0001195	Single umbilical artery	4	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0001197	HP:0001558	Decreased fetal movement	4	PARS2 CL E G H	25973	30563	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		14
HP:0001197	HP:0001558	Decreased fetal movement	4	PAX7 CL E G H	5081	8621	OMIM:618578	MYOPATHY, CONGENITAL, PROGRESSIVE, WITH SCOLIOSIS; MYOSCO
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		169
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		75
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		4
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		65
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		66
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		46
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		59
HP:0001197	HP:0001558	Decreased fetal movement	4	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.		62
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		62
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		82
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		106
HP:0001197	HP:0001558	Decreased fetal movement	4	PEX3 CL E G H	8504	8858	OMIM:614882	Peroxisome biogenesis disorder 10A (Zellweger)	.		47
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		47
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		99
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		98
HP:0001197	HP:0001195	Single umbilical artery	4	PGAP2 CL E G H	27315	17893	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0001197	HP:0001195	Single umbilical artery	4	PGAP3 CL E G H	93210	23719	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		20
HP:0001197	HP:0001558	Decreased fetal movement	4	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.		37
HP:0001197	HP:0006266	Small placenta	4	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.		37
HP:0001197	HP:0001558	Decreased fetal movement	4	PHOX2B CL E G H	8929	9143	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional		86
HP:0001197	HP:0010959	Congenital pulmonary airway malformation	4	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare		11
HP:0001197	HP:0010945	Fetal pyelectasis	4	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis			11
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III	.		36
HP:0001197	HP:0010945	Fetal pyelectasis	4	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0001197	HP:0001558	Decreased fetal movement	4	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040281 - Very frequent		7
HP:0001197	HP:0001195	Single umbilical artery	4	PIGL CL E G H	9487	8966	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		36
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040282 - Frequent		37
HP:0001197	HP:0010880	Increased nuchal translucency	4	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0001197	HP:0001195	Single umbilical artery	4	PIGO CL E G H	84720	23215	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		84
HP:0001197	HP:0001558	Decreased fetal movement	4	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0001197	HP:0001195	Single umbilical artery	4	PIGV CL E G H	55650	26031	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		57
HP:0001197	HP:0001195	Single umbilical artery	4	PIGW CL E G H	284098	23213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		6
HP:0001197	HP:0010943	Echogenic fetal bowel	4	PIGY CL E G H	84992	28213	OMIM:616809	Hyperphosphatasia with mental retardation syndrome 6			2
HP:0001197	HP:0001195	Single umbilical artery	4	PIGY CL E G H	84992	28213	ORPHA:247262	Hyperphosphatasia-intellectual disability syndrome	HP:0040283 - Occasional		2
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	PKLR CL E G H	5313	9020	OMIM:266200	Pyruvate kinase deficiency of red cells	HP:0040283 - Occasional		51
HP:0001197	HP:0006266	Small placenta	4	PLAG1 CL E G H	5324	9045	ORPHA:397590	Silver-Russell syndrome due to a point mutation	HP:0040283 - Occasional		3
HP:0001197	HP:0001558	Decreased fetal movement	4	PLOD1 CL E G H	5351	9081	OMIM:225400	Ehlers-Danlos syndrome, kyphoscoliotic type, 1	.		105
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.		150
HP:0001197	HP:0001558	Decreased fetal movement	4	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0001197	HP:0001195	Single umbilical artery	4	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.		76
HP:0001197	HP:0001558	Decreased fetal movement	4	PPM1B CL E G H	5495	9276	ORPHA:163693	2p21 microdeletion syndrome	HP:0040283 - Occasional
HP:0001197	HP:0001558	Decreased fetal movement	4	PPP3CA CL E G H	5530	9314	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		2
HP:0001197	HP:0001558	Decreased fetal movement	4	PREPL CL E G H	9581	30228	ORPHA:163693	2p21 microdeletion syndrome	HP:0040283 - Occasional		7
HP:0001197	HP:0001558	Decreased fetal movement	4	PREPL CL E G H	9581	30228	ORPHA:163690	Hypotonia-cystinuria syndrome	HP:0040281 - Very frequent		7
HP:0001197	HP:0001558	Decreased fetal movement	4	PRUNE1 CL E G H	58497	13420	OMIM:617481	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	.		8
HP:0001197	HP:0001558	Decreased fetal movement	4	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2	.		27
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040282 - Frequent		27
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	PSEN1 CL E G H	5663	9508	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		241
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	PSEN1 CL E G H	5663	9508	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		241
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		291
HP:0001197	HP:0001558	Decreased fetal movement	4	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040283 - Occasional		6
HP:0001197	HP:0001558	Decreased fetal movement	4	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001558	Decreased fetal movement	4	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001195	Single umbilical artery	4	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0001197	HP:0010942	Echogenic intracardiac focus	4	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0001197	HP:0010880	Increased nuchal translucency	4	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		25
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		212
HP:0001197	HP:0007549	Desquamation of skin soon after birth	4	RAG1 CL E G H	5896	9831	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		127
HP:0001197	HP:0007549	Desquamation of skin soon after birth	4	RAG2 CL E G H	5897	9832	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		50
HP:0001197	HP:0001558	Decreased fetal movement	4	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent		150
HP:0001197	HP:0001558	Decreased fetal movement	4	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence			73
HP:0001197	HP:0001558	Decreased fetal movement	4	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2			73
HP:0001197	HP:0001558	Decreased fetal movement	4	RAPSN CL E G H	5913	9863	OMIM:616326	Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency	.		73
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040284 - Very rare		88
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		3
HP:0001197	HP:0001558	Decreased fetal movement	4	RET CL E G H	5979	9967	ORPHA:99803	Haddad syndrome	HP:0040283 - Occasional		572
HP:0001197	HP:0010880	Increased nuchal translucency	4	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001197	HP:0001791	Fetal ascites	4	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced			16
HP:0001197	HP:0025671	Fetal pericardial effusion	4	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced			16
HP:0001197	HP:0025676	Fetal pleural effusion	4	RHD CL E G H	6007	10009	OMIM:619462	Hemolytic disease of fetus and newborn, RH-induced			16
HP:0001197	HP:0001558	Decreased fetal movement	4	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		39
HP:0001197	HP:0007549	Desquamation of skin soon after birth	4	RMRP CL E G H	6023	10031	ORPHA:39041	Omenn syndrome	HP:0040282 - Frequent		37
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	RNU4ATAC CL E G H	100151683	34016	ORPHA:2636	Microcephalic osteodysplastic primordial dwarfism types I and III	HP:0040282 - Frequent		15
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		11
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		40
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		26
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		5
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		42
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		22
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		20
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		3
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		20
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		1
HP:0001197	HP:0006267	Large placenta	4	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040281 - Very frequent
HP:0001197	HP:0006267	Large placenta	4	RTL1 CL E G H	388015	14665	ORPHA:254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	HP:0040282 - Frequent
HP:0001197	HP:0006267	Large placenta	4	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:0001197	HP:0001558	Decreased fetal movement	4	RYR1 CL E G H	6261	10483	ORPHA:169189	Autosomal dominant centronuclear myopathy	HP:0040282 - Frequent		1200
HP:0001197	HP:0001558	Decreased fetal movement	4	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease			1200
HP:0001197	HP:0001558	Decreased fetal movement	4	RYR1 CL E G H	6261	10483	ORPHA:98905	Congenital multicore myopathy with external ophthalmoplegia	HP:0040282 - Frequent		1200
HP:0001197	HP:0001558	Decreased fetal movement	4	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0001197	HP:0001558	Decreased fetal movement	4	RYR1 CL E G H	6261	10483	OMIM:255320	Minicore myopathy with external ophthalmoplegia			1200
HP:0001197	HP:0001558	Decreased fetal movement	4	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1200
HP:0001197	HP:0001195	Single umbilical artery	4	SCARF2 CL E G H	91179	19869	OMIM:600920	Van den Ende-Gupta syndrome	.		11
HP:0001197	HP:0001558	Decreased fetal movement	4	SCN3A CL E G H	6328	10590	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		70
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	SCN5A CL E G H	6331	10593	OMIM:603830	Long QT syndrome 3			1134
HP:0001197	HP:0001558	Decreased fetal movement	4	SCN8A CL E G H	6334	10596	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		357
HP:0001197	HP:0001558	Decreased fetal movement	4	SCYL2 CL E G H	55681	19286	OMIM:618766	ARTHROGRYPOSIS MULTIPLEX CONGENITA 4, NEUROGENIC, WITH AGENESIS OF THE CORPUS CALLOSUM; AMC4
HP:0001197	HP:0001558	Decreased fetal movement	4	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0001197	HP:0001558	Decreased fetal movement	4	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0001197	HP:0001558	Decreased fetal movement	4	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		144
HP:0001197	HP:0001558	Decreased fetal movement	4	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0001197	HP:0006267	Large placenta	4	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	.
HP:0001197	HP:0001558	Decreased fetal movement	4	SLC13A5 CL E G H	284111	23089	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		73
HP:0001197	HP:0001558	Decreased fetal movement	4	SLC16A2 CL E G H	6567	10923	ORPHA:59	Allan-Herndon-Dudley syndrome	HP:0040283 - Occasional		57
HP:0001197	HP:0001558	Decreased fetal movement	4	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence			2
HP:0001197	HP:0001558	Decreased fetal movement	4	SLC18A3 CL E G H	6572	10936	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0001197	HP:0001558	Decreased fetal movement	4	SLC1A2 CL E G H	6506	10940	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		3
HP:0001197	HP:0001558	Decreased fetal movement	4	SLC25A1 CL E G H	6576	10979	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		28
HP:0001197	HP:0001558	Decreased fetal movement	4	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly	HP:0040283 - Occasional		36
HP:0001197	HP:0001558	Decreased fetal movement	4	SLC25A26 CL E G H	115286	20661	OMIM:616794	Combined oxidative phosphorylation deficiency 28			5
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	SLC26A2 CL E G H	1836	10994	ORPHA:93298	Achondrogenesis type 1B	HP:0040281 - Very frequent		166
HP:0001197	HP:0025724	Caseous vernix-like desquamation	4	SLC27A4 CL E G H	10999	10998	OMIM:608649	ICHTHYOSIS PREMATURITY SYNDROME; IPS			26
HP:0001197	HP:0007549	Desquamation of skin soon after birth	4	SLC27A4 CL E G H	10999	10998	ORPHA:88621	Ichthyosis-prematurity syndrome	HP:0040281 - Very frequent		26
HP:0001197	HP:0001195	Single umbilical artery	4	SLC30A9 CL E G H	10463	1329	OMIM:617595	Birk-Landau-Perez syndrome			1
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040283 - Occasional		27
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia			9
HP:0001197	HP:0001558	Decreased fetal movement	4	SLC38A3 CL E G H	10991	18044	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001197	HP:0001558	Decreased fetal movement	4	SLC3A1 CL E G H	6519	11025	ORPHA:163693	2p21 microdeletion syndrome	HP:0040283 - Occasional		55
HP:0001197	HP:0001558	Decreased fetal movement	4	SLC3A1 CL E G H	6519	11025	ORPHA:163690	Hypotonia-cystinuria syndrome	HP:0040281 - Very frequent		55
HP:0001197	HP:0001558	Decreased fetal movement	4	SLC5A7 CL E G H	60482	14025	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		9
HP:0001197	HP:0010880	Increased nuchal translucency	4	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		135
HP:0001197	HP:0010880	Increased nuchal translucency	4	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		91
HP:0001197	HP:0001558	Decreased fetal movement	4	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I	.		22
HP:0001197	HP:0001558	Decreased fetal movement	4	SNAP25 CL E G H	6616	11132	OMIM:616330	Myasthenic syndrome, congenital, 18	.		2
HP:0001197	HP:0001558	Decreased fetal movement	4	SNAP25 CL E G H	6616	11132	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0001197	HP:0001558	Decreased fetal movement	4	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001558	Decreased fetal movement	4	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0001197	HP:0001558	Decreased fetal movement	4	SNRPN CL E G H	6638	11164	ORPHA:177910	Prader-Willi syndrome due to imprinting mutation	HP:0040282 - Frequent		37
HP:0001197	HP:0001558	Decreased fetal movement	4	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040283 - Occasional		37
HP:0001197	HP:0001558	Decreased fetal movement	4	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040283 - Occasional		37
HP:0001197	HP:0001558	Decreased fetal movement	4	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040283 - Occasional		37
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		315
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent		30
HP:0001197	HP:0001558	Decreased fetal movement	4	SOX10 CL E G H	6663	11190	OMIM:609136	Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease			61
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	SOX18 CL E G H	54345	11194	OMIM:607823	Hypotrichosis-Lymphedema-Telangiectasia syndrome	.		7
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	SOX18 CL E G H	54345	11194	OMIM:137940	Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome			7
HP:0001197	HP:0001195	Single umbilical artery	4	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040281 - Very frequent
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	SQSTM1 CL E G H	8878	11280	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		62
HP:0001197	HP:0001195	Single umbilical artery	4	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0001197	HP:0010880	Increased nuchal translucency	4	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0001197	HP:0010880	Increased nuchal translucency	4	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001197	HP:0001558	Decreased fetal movement	4	SYNE1 CL E G H	23345	17089	OMIM:618484	Arthrogryposis multiplex congenita, Myogenic type	.		1129
HP:0001197	HP:0001558	Decreased fetal movement	4	SYNE1 CL E G H	23345	17089	ORPHA:88644	Autosomal recessive ataxia, Beauce type	HP:0040283 - Occasional		1129
HP:0001197	HP:0001558	Decreased fetal movement	4	SYNE1 CL E G H	23345	17089	ORPHA:319332	Autosomal recessive myogenic arthrogryposis multiplex congenita			1129
HP:0001197	HP:0001558	Decreased fetal movement	4	SYNGAP1 CL E G H	8831	11497	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		108
HP:0001197	HP:0001558	Decreased fetal movement	4	SYNJ1 CL E G H	8867	11503	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		9
HP:0001197	HP:0001558	Decreased fetal movement	4	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0001197	HP:0001558	Decreased fetal movement	4	SYT2 CL E G H	127833	11510	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		4
HP:0001197	HP:0001558	Decreased fetal movement	4	SZT2 CL E G H	23334	29040	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		123
HP:0001197	HP:0001195	Single umbilical artery	4	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040282 - Frequent		271
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0001197	HP:0001558	Decreased fetal movement	4	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0001197	HP:0010945	Fetal pyelectasis	4	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0001197	HP:0010880	Increased nuchal translucency	4	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001197	HP:0034250	Fetal nuchal edema	4	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome			241
HP:0001197	HP:0007549	Desquamation of skin soon after birth	4	TGM1 CL E G H	7051	11777	OMIM:242300	Ichthyosis, congenital, autosomal recessive 1	.		98
HP:0001197	HP:0001195	Single umbilical artery	4	TLK2 CL E G H	11011	11842	OMIM:618050	Mental retardation, autosomal dominant 57			1
HP:0001197	HP:0001558	Decreased fetal movement	4	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	HP:0040283 - Occasional		6
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	TMEM106B CL E G H	54664	22407	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	TMEM106B CL E G H	54664	22407	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent
HP:0001197	HP:0010880	Increased nuchal translucency	4	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001197	HP:0001558	Decreased fetal movement	4	TOR1A CL E G H	1861	3098	OMIM:618947	ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC5			47
HP:0001197	HP:0001558	Decreased fetal movement	4	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0001197	HP:0001558	Decreased fetal movement	4	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0001197	HP:0001558	Decreased fetal movement	4	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		54
HP:0001197	HP:0001558	Decreased fetal movement	4	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0001197	HP:0001558	Decreased fetal movement	4	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0001197	HP:0001558	Decreased fetal movement	4	TPM3 CL E G H	7170	12012	ORPHA:171433	Intermediate nemaline myopathy	HP:0040282 - Frequent		108
HP:0001197	HP:0001558	Decreased fetal movement	4	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		108
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0001197	HP:0001558	Decreased fetal movement	4	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9	.		2
HP:0001197	HP:0001558	Decreased fetal movement	4	TRAK1 CL E G H	22906	29947	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	TREM2 CL E G H	54209	17761	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		31
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	TREM2 CL E G H	54209	17761	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		31
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	TRIP11 CL E G H	9321	12305	ORPHA:93299	Achondrogenesis type 1A	HP:0040281 - Very frequent		133
HP:0001197	HP:0010880	Increased nuchal translucency	4	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0001197	HP:0010963	Absence of stomach bubble on fetal sonography	4	TRIP11 CL E G H	9321	12305	OMIM:200600	Achondrogenesis, type IA			133
HP:0001197	HP:0010880	Increased nuchal translucency	4	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent		2
HP:0001197	HP:0001558	Decreased fetal movement	4	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0001197	HP:0001558	Decreased fetal movement	4	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	HP:0040283 - Occasional		214
HP:0001197	HP:0001558	Decreased fetal movement	4	TRPV4 CL E G H	59341	18083	OMIM:600175	Spinal muscular atrophy, distal, congenital nonprogressive	.		214
HP:0001197	HP:0001558	Decreased fetal movement	4	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.		43
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040284 - Very rare		1
HP:0001197	HP:0010959	Congenital pulmonary airway malformation	4	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare		26
HP:0001197	HP:0010959	Congenital pulmonary airway malformation	4	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome			26
HP:0001197	HP:0001558	Decreased fetal movement	4	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence			106
HP:0001197	HP:0001195	Single umbilical artery	4	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0001197	HP:0034262	Absent lanugo	4	TWIST2 CL E G H	117581	20670	OMIM:200110	Ablepharon-Macrostomia syndrome			7
HP:0001197	HP:0010880	Increased nuchal translucency	4	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0001197	HP:0001558	Decreased fetal movement	4	UBA1 CL E G H	7317	12469	OMIM:301830	Spinal muscular atrophy, X-linked 2	.		35
HP:0001197	HP:0001558	Decreased fetal movement	4	UBA5 CL E G H	79876	23230	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		13
HP:0001197	HP:0001558	Decreased fetal movement	4	UNC45B CL E G H	146862	14304	OMIM:619178	MYOFIBRILLAR MYOPATHY 11; MFM11			1
HP:0001197	HP:0011726	Persistent fetal circulation	4	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	UROD CL E G H	7389	12591	ORPHA:95159	Hepatoerythropoietic porphyria	HP:0040282 - Frequent		31
HP:0001197	HP:0001790	Nonimmune hydrops fetalis	4	UROS CL E G H	7390	12592	ORPHA:79277	Congenital erythropoietic porphyria	HP:0040282 - Frequent		41
HP:0001197	HP:0001558	Decreased fetal movement	4	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0001197	HP:0010880	Increased nuchal translucency	4	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional		6
HP:0001197	HP:0001558	Decreased fetal movement	4	VAMP1 CL E G H	6843	12642	OMIM:618323	Myasthenic syndrome, congenital, 25, presynaptic	.		2
HP:0001197	HP:0001558	Decreased fetal movement	4	VAMP1 CL E G H	6843	12642	ORPHA:98914	Presynaptic congenital myasthenic syndromes	HP:0040282 - Frequent		2
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	VCP CL E G H	7415	12666	ORPHA:275864	Behavioral variant of frontotemporal dementia	HP:0040281 - Very frequent		63
HP:0001197	HP:0000474	Thickened nuchal skin fold	4	VCP CL E G H	7415	12666	ORPHA:100070	Progressive non-fluent aphasia	HP:0040281 - Very frequent		63
HP:0001197	HP:0001558	Decreased fetal movement	4	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040282 - Frequent		546
HP:0001197	HP:0010880	Increased nuchal translucency	4	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001197	HP:0001195	Single umbilical artery	4	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040283 - Occasional		83
HP:0001197	HP:0001195	Single umbilical artery	4	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.		83
HP:0001197	HP:0001558	Decreased fetal movement	4	WDR62 CL E G H	284403	24502	OMIM:604317	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations	.		224
HP:0001197	HP:0001195	Single umbilical artery	4	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive	.		12
HP:0001197	HP:0001195	Single umbilical artery	4	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001197	HP:0001558	Decreased fetal movement	4	WWOX CL E G H	51741	12799	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional		149
HP:0001197	HP:0001558	Decreased fetal movement	4	YWHAG CL E G H	7532	12852	ORPHA:442835	Non-specific early-onset epileptic encephalopathy	HP:0040283 - Occasional
HP:0001197	HP:0010945	Fetal pyelectasis	4	ZBTB18 CL E G H	10472	13030	OMIM:612337	Mental retardation, autosomal dominant 22			16
HP:0001197	HP:0001558	Decreased fetal movement	4	ZBTB42 CL E G H	100128927	32550	OMIM:616248	Lethal congenital contracture syndrome 6	.		1
HP:0001197	HP:0001558	Decreased fetal movement	4	ZC4H2 CL E G H	55906	24931	OMIM:314580	Wieacker-Wolff syndrome	.		19
HP:0001197	HP:0001558	Decreased fetal movement	4	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0001197	HP:0010963	Absence of stomach bubble on fetal sonography	4	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked			39
HP:0001197	HP:0001558	Decreased fetal movement	4	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		83
HP:0001197	HP:0006266	Small placenta	4	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent		83
HP:0001197	HP:0006267	Large placenta	4	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		83
HP:0001197	HP:0001558	Decreased fetal movement	4	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.		83
HP:0001197	HP:0006267	Large placenta	4	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0001197	HP:0001195	Single umbilical artery	4	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001197	HP:0010943	Echogenic fetal bowel	4	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001197	HP:0025678	Fetal hydrothorax	5	CL E G H
HP:0001197	HP:0025725	Type 1 congenital pulmonary airway malformation	5	CL E G H
HP:0001197	HP:0025726	Type 2 congenital pulmonary airway malformation	5	CL E G H
HP:0001197	HP:0025727	Type 3 congenital pulmonary airway malformation	5	CL E G H
HP:0001197	HP:0034073	Reduced fetal long bone echogenicity	5	CL E G H
HP:0001197	HP:0034074	Increased fetal long bone echogenicity	5	CL E G H
HP:0001197	HP:0034211	Fetal cerebral parenchymal hemorrhage	5	CL E G H
HP:0001197	HP:0034212	Fetal extra-axial hemorrhage	5	CL E G H
HP:0001197	HP:0034213	Fetal posterior fossa hemorrhage	5	CL E G H
HP:0001197	HP:0034223	Elevated umbilical artery pulsatility	5	CL E G H
HP:0001197	HP:0034224	Absent end-diastolic umbilical artery flow	5	CL E G H
HP:0001197	HP:0034225	Reversed end-diastolic umbilical artery flow	5	CL E G H
HP:0001197	HP:0500258	Abnormal carbon dioxide level in cord blood	5	CL E G H
HP:0001197	HP:0500259	Abnormal oxygen level in cord blood	5	CL E G H
HP:0001197	HP:0001989	Fetal akinesia sequence	5	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		96
HP:0001197	HP:0001989	Fetal akinesia sequence	5	ATP1A2 CL E G H	477	800	OMIM:619602	FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES; FARIMPD			239
HP:0001197	HP:0025706	Absent fetal nasal bone	5	BMPER CL E G H	168667	24154	OMIM:608022	DIAPHANOSPONDYLODYSOSTOSIS			78
HP:0001197	HP:0001989	Fetal akinesia sequence	5	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		74
HP:0001197	HP:0001989	Fetal akinesia sequence	5	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		88
HP:0001197	HP:0001989	Fetal akinesia sequence	5	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		68
HP:0001197	HP:0001989	Fetal akinesia sequence	5	CNTN1 CL E G H	1272	2171	OMIM:612540	Myopathy, congenital, compton-north	.		40
HP:0001197	HP:0001989	Fetal akinesia sequence	5	CNTNAP1 CL E G H	8506	8011	OMIM:616286	Lethal congenital contracture syndrome 7	.		9
HP:0001197	HP:0025707	Hypoplastic nasal bone	5	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome			215
HP:0001197	HP:0034210	Fetal intraventricular hemorrhage	5	DHPS CL E G H	1725	2869	OMIM:618480	Neurodevelopmental disorder with seizures and speech and walking impairment
HP:0001197	HP:0001989	Fetal akinesia sequence	5	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		91
HP:0001197	HP:0001989	Fetal akinesia sequence	5	DOK7 CL E G H	285489	26594	OMIM:618389	FETAL AKINESIA DEFORMATION SEQUENCE 3; FADS3			91
HP:0001197	HP:0001989	Fetal akinesia sequence	5	DPAGT1 CL E G H	1798	2995	ORPHA:86309	DPAGT1-CDG	HP:0040284 - Very rare		38
HP:0001197	HP:0001989	Fetal akinesia sequence	5	GBA1 CL E G H	2629	4177	ORPHA:85212	Fetal Gaucher disease	HP:0040282 - Frequent
HP:0001197	HP:0001989	Fetal akinesia sequence	5	GLE1 CL E G H	2733	4315	OMIM:611890	Congenital arthrogryposis with anterior horn cell disease	.		45
HP:0001197	HP:0001989	Fetal akinesia sequence	5	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		80
HP:0001197	HP:0001989	Fetal akinesia sequence	5	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2			18
HP:0001197	HP:0001989	Fetal akinesia sequence	5	KLHL40 CL E G H	131377	30372	OMIM:615348	NEMALINE MYOPATHY 8; NEM8			28
HP:0001197	HP:0001989	Fetal akinesia sequence	5	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		13
HP:0001197	HP:0001989	Fetal akinesia sequence	5	KLHL41 CL E G H	10324	16905	OMIM:615731	Nemaline myopathy 9	HP:0040283 - Occasional		13
HP:0001197	HP:0001989	Fetal akinesia sequence	5	LGI4 CL E G H	163175	18712	OMIM:617468	Arthrogryposis multiplex congenita, neurogenic, with myelin defect	.		6
HP:0001197	HP:0001989	Fetal akinesia sequence	5	MAGEL2 CL E G H	54551	6814	OMIM:615547	Schaaf-Yang syndrome	HP:0040284 - Very rare		63
HP:0001197	HP:0025677	Fetal chylothorax	5	MDFIC CL E G H	29969	28870	OMIM:620014
HP:0001197	HP:0001989	Fetal akinesia sequence	5	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		72
HP:0001197	HP:0001989	Fetal akinesia sequence	5	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.		72
HP:0001197	HP:0001989	Fetal akinesia sequence	5	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0001197	HP:0001989	Fetal akinesia sequence	5	MYOD1 CL E G H	4654	7611	OMIM:618975	MYOPATHY, CONGENITAL, WITH DIAPHRAGMATIC DEFECTS, RESPIRATORY INSUFFICIENCY, AND DYSMORPHIC FACIES; MYODRIF
HP:0001197	HP:0001989	Fetal akinesia sequence	5	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		217
HP:0001197	HP:0001989	Fetal akinesia sequence	5	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		745
HP:0001197	HP:0001989	Fetal akinesia sequence	5	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10	.		9
HP:0001197	HP:0001989	Fetal akinesia sequence	5	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent
HP:0001197	HP:0011129	Bilateral fetal pyelectasis	5	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0001197	HP:0001989	Fetal akinesia sequence	5	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0001197	HP:0001989	Fetal akinesia sequence	5	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		73
HP:0001197	HP:0001989	Fetal akinesia sequence	5	RAPSN CL E G H	5913	9863	OMIM:618388	FETAL AKINESIA DEFORMATION SEQUENCE 2; FADS2			73
HP:0001197	HP:0001989	Fetal akinesia sequence	5	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040284 - Very rare		1200
HP:0001197	HP:0001989	Fetal akinesia sequence	5	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		2
HP:0001197	HP:0001989	Fetal akinesia sequence	5	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		54
HP:0001197	HP:0001989	Fetal akinesia sequence	5	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		108
HP:0001197	HP:0001989	Fetal akinesia sequence	5	TRPV4 CL E G H	59341	18083	OMIM:156530	Metatropic dysplasia	HP:0040283 - Occasional		214
HP:0001197	HP:0001989	Fetal akinesia sequence	5	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040281 - Very frequent		106
HP:0001197	HP:0001989	Fetal akinesia sequence	5	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR			19
HP:0001197	HP:0011414	Hydropic placenta	5	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.		83
HP:0001197	HP:0034209	Fetal subependymal hemorrhage	6	CL E G H
HP:0001197	HP:0034214	Fetal intraventricular hemorrhage without ventriculomegaly	6	CL E G H
HP:0001197	HP:0034215	Fetal cerebellar hemisphere hemorrhage	6	CL E G H
HP:0001197	HP:0034216	Fetal cerebellar vermis hemorrhage	6	CL E G H
HP:0001197	HP:0034218	Fetal intraventricular hemorrhage with ventriculomegaly	6	CL E G H
HP:0001197	HP:0034219	Fetal intraventricular hemorrhage with periventricular hemorrhage	6	CL E G H
HP:0001197	HP:0410212	Hyperoxemia in cord blood	6	CL E G H
HP:0001197	HP:0410213	Hypoxemia in cord blood	6	CL E G H
HP:0001197	HP:0410214	Hypercapnia in cord blood	6	CL E G H
HP:0001197	HP:0410215	Hypocapnia in cord blood	6	CL E G H