Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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

Grandparent Node:
Abnormal morphology of the great vessels (HP:0030962)

Parent Node:
Congenital malformation of the great arteries (HP:0011603)

..Starting node
..Patent ductus arteriosus (HP:0001643)

Term ID:

1643

Name:

Patent ductus arteriosus

Synonym:

Ductus arteriosus; Patent ductus Botalli; PDA; Persistent arterial duct; Persistent ductus arteriosus

Definition:

In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences.

Comments:

Reference:

HP:0001643

Genes and Diseases:

Child Nodes:

........

Patent ductus arteriosus after birth at term (HP:0011648)

........

Patent ductus arteriosus after premature birth (HP:0011649)

........

Bilateral ductus arteriosus (HP:0011650)

Sister Nodes:

Aortopulmonary window (HP:0011604)

Congenitally corrected transposition of the great arteries (HP:0011540)

Conotruncal defect (HP:0001710)

Dilatation of the ductus arteriosus (HP:0030745)

Transposition of the great arteries (HP:0001669)

Truncus arteriosus (HP:0001660)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	254
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type		53
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040283 - Occasional	19
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	94
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome	.	94
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.	72
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1	.	63
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional	9
HP:0001643	HP:0001643	Patent ductus arteriosus	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	.	6
HP:0001643	HP:0001643	Patent ductus arteriosus	0	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	HP:0040282 - Frequent	6
HP:0001643	HP:0001643	Patent ductus arteriosus	0	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040283 - Occasional	1
HP:0001643	HP:0001643	Patent ductus arteriosus	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ALB CL E G H	213	399	OMIM:616000	Analbuminemia		104
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040284 - Very rare	68
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.	68
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.	46
HP:0001643	HP:0001643	Patent ductus arteriosus	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0001643	HP:0001643	Patent ductus arteriosus	0	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040283 - Occasional	2
HP:0001643	HP:0001643	Patent ductus arteriosus	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040283 - Occasional	150
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16	HP:0040283 - Occasional	32
HP:0001643	HP:0001643	Patent ductus arteriosus	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	1
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ARF1 CL E G H	375	652	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ARFGEF2 CL E G H	10564	15853	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	179
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	88
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	219
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	25
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ARL6IP6 CL E G H	151188	24048	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional	1
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040284 - Very rare
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	1
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia	HP:0040283 - Occasional	166
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2		2
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0001643	HP:0001643	Patent ductus arteriosus	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0001643	HP:0001643	Patent ductus arteriosus	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0001643	HP:0001643	Patent ductus arteriosus	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001643	HP:0001643	Patent ductus arteriosus	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001643	HP:0001643	Patent ductus arteriosus	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.	101
HP:0001643	HP:0001643	Patent ductus arteriosus	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040283 - Occasional	101
HP:0001643	HP:0001643	Patent ductus arteriosus	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	385
HP:0001643	HP:0001643	Patent ductus arteriosus	0	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome		2
HP:0001643	HP:0001643	Patent ductus arteriosus	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1	.	276
HP:0001643	HP:0001643	Patent ductus arteriosus	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0001643	HP:0001643	Patent ductus arteriosus	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0001643	HP:0001643	Patent ductus arteriosus	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0001643	HP:0001643	Patent ductus arteriosus	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001643	HP:0001643	Patent ductus arteriosus	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0001643	HP:0001643	Patent ductus arteriosus	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0001643	HP:0001643	Patent ductus arteriosus	0	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome	HP:0040283 - Occasional	572
HP:0001643	HP:0001643	Patent ductus arteriosus	0	CADM3 CL E G H	57863	17601	OMIM:619519	CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2FF; CMT2FF		1
HP:0001643	HP:0001643	Patent ductus arteriosus	0	CALM3 CL E G H	808	1449	OMIM:618782	LONG QT SYNDROME 16; LQT16		16
HP:0001643	HP:0001643	Patent ductus arteriosus	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	3
HP:0001643	HP:0001643	Patent ductus arteriosus	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.	33
HP:0001643	HP:0001643	Patent ductus arteriosus	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.	83
HP:0001643	HP:0001643	Patent ductus arteriosus	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0001643	HP:0001643	Patent ductus arteriosus	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0001643	HP:0001643	Patent ductus arteriosus	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001643	HP:0001643	Patent ductus arteriosus	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0001643	HP:0001643	Patent ductus arteriosus	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0001643	HP:0001643	Patent ductus arteriosus	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.	515
HP:0001643	HP:0001643	Patent ductus arteriosus	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	515
HP:0001643	HP:0001643	Patent ductus arteriosus	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040283 - Occasional	4
HP:0001643	HP:0001643	Patent ductus arteriosus	0	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome	.	4
HP:0001643	HP:0001643	Patent ductus arteriosus	0	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001643	HP:0001643	Patent ductus arteriosus	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001643	HP:0001643	Patent ductus arteriosus	0	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4		8
HP:0001643	HP:0001643	Patent ductus arteriosus	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0001643	HP:0001643	Patent ductus arteriosus	0	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional	177
HP:0001643	HP:0001643	Patent ductus arteriosus	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0001643	HP:0001643	Patent ductus arteriosus	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	6
HP:0001643	HP:0001643	Patent ductus arteriosus	0	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7	HP:0040283 - Occasional	24
HP:0001643	HP:0001643	Patent ductus arteriosus	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0001643	HP:0001643	Patent ductus arteriosus	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional	291
HP:0001643	HP:0001643	Patent ductus arteriosus	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0001643	HP:0001643	Patent ductus arteriosus	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001643	HP:0001643	Patent ductus arteriosus	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040282 - Frequent	20
HP:0001643	HP:0001643	Patent ductus arteriosus	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0001643	HP:0001643	Patent ductus arteriosus	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.	1
HP:0001643	HP:0001643	Patent ductus arteriosus	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0001643	HP:0001643	Patent ductus arteriosus	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS		72
HP:0001643	HP:0001643	Patent ductus arteriosus	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040283 - Occasional	72
HP:0001643	HP:0001643	Patent ductus arteriosus	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0001643	HP:0001643	Patent ductus arteriosus	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040283 - Occasional	159
HP:0001643	HP:0001643	Patent ductus arteriosus	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy		152
HP:0001643	HP:0001643	Patent ductus arteriosus	0	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40		18
HP:0001643	HP:0001643	Patent ductus arteriosus	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001643	HP:0001643	Patent ductus arteriosus	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040284 - Very rare	44
HP:0001643	HP:0001643	Patent ductus arteriosus	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0001643	HP:0001643	Patent ductus arteriosus	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0001643	HP:0001643	Patent ductus arteriosus	0	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1	.	163
HP:0001643	HP:0001643	Patent ductus arteriosus	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0001643	HP:0001643	Patent ductus arteriosus	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	.	7
HP:0001643	HP:0001643	Patent ductus arteriosus	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040284 - Very rare	134
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	.	13
HP:0001643	HP:0001643	Patent ductus arteriosus	0	EED CL E G H	8726	3188	OMIM:617561	Cohen-Gibson syndrome	HP:0040284 - Very rare	4
HP:0001643	HP:0001643	Patent ductus arteriosus	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	172
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0001643	HP:0001643	Patent ductus arteriosus	0	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4	HP:0040283 - Occasional	4
HP:0001643	HP:0001643	Patent ductus arteriosus	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0001643	HP:0001643	Patent ductus arteriosus	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ERMARD CL E G H	55780	21056	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	36
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.	92
HP:0001643	HP:0001643	Patent ductus arteriosus	0	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome	HP:0040284 - Very rare	102
HP:0001643	HP:0001643	Patent ductus arteriosus	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2		147
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF		87
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	1361
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant	.	1361
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.	655
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FGF10 CL E G H	2255	3666	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	17
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FGFR2 CL E G H	2263	3689	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	175
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FGFR3 CL E G H	2261	3690	ORPHA:2363	Lacrimoauriculodentodigital syndrome	HP:0040284 - Very rare	145
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040283 - Occasional	145
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2	HP:0040283 - Occasional	145
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FKBP14 CL E G H	55033	18625	OMIM:614557	Ehlers-Danlos syndrome, kyphoscoliotic type, 2	HP:0040283 - Occasional	13
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia		493
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FLNA CL E G H	2316	3754	OMIM:300049	Heterotopia, periventricular, X-linked dominant	.	493
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FLNA CL E G H	2316	3754	OMIM:300048	Intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked	.	493
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FLNA CL E G H	2316	3754	ORPHA:99811	Neuronal intestinal pseudoobstruction	HP:0040281 - Very frequent	493
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FLNA CL E G H	2316	3754	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	493
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3	.	63
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FOXC2 CL E G H	2303	3801	ORPHA:33001	Lymphedema-distichiasis syndrome	HP:0040283 - Occasional	20
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome	.	20
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	23
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040282 - Frequent	61
HP:0001643	HP:0001643	Patent ductus arteriosus	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.	70
HP:0001643	HP:0001643	Patent ductus arteriosus	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.	37
HP:0001643	HP:0001643	Patent ductus arteriosus	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	10
HP:0001643	HP:0001643	Patent ductus arteriosus	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0001643	HP:0001643	Patent ductus arteriosus	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040283 - Occasional	87
HP:0001643	HP:0001643	Patent ductus arteriosus	0	GATA4 CL E G H	2626	4173	OMIM:607941	Atrial septal defect 2		87
HP:0001643	HP:0001643	Patent ductus arteriosus	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects	.	37
HP:0001643	HP:0001643	Patent ductus arteriosus	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040283 - Occasional	37
HP:0001643	HP:0001643	Patent ductus arteriosus	0	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional	68
HP:0001643	HP:0001643	Patent ductus arteriosus	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	39
HP:0001643	HP:0001643	Patent ductus arteriosus	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	34
HP:0001643	HP:0001643	Patent ductus arteriosus	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II		120
HP:0001643	HP:0001643	Patent ductus arteriosus	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0001643	HP:0001643	Patent ductus arteriosus	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome	HP:0040283 - Occasional	270
HP:0001643	HP:0001643	Patent ductus arteriosus	0	GLYCTK CL E G H	132158	24247	OMIM:220120	D-GLYCERIC ACIDURIA		6
HP:0001643	HP:0001643	Patent ductus arteriosus	0	GNA11 CL E G H	2767	4379	ORPHA:1556	Cutis marmorata telangiectatica congenita	HP:0040283 - Occasional	16
HP:0001643	HP:0001643	Patent ductus arteriosus	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	8
HP:0001643	HP:0001643	Patent ductus arteriosus	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0001643	HP:0001643	Patent ductus arteriosus	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001643	HP:0001643	Patent ductus arteriosus	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001643	HP:0001643	Patent ductus arteriosus	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001643	HP:0001643	Patent ductus arteriosus	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001643	HP:0001643	Patent ductus arteriosus	0	HACD1 CL E G H	9200	9639	OMIM:619967			2
HP:0001643	HP:0001643	Patent ductus arteriosus	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0001643	HP:0001643	Patent ductus arteriosus	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0001643	HP:0001643	Patent ductus arteriosus	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	3
HP:0001643	HP:0001643	Patent ductus arteriosus	0	HPGD CL E G H	3248	5154	OMIM:259100	Hypertrophic osteoarthropathy, primary, autosomal recessive 1	.	55
HP:0001643	HP:0001643	Patent ductus arteriosus	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	345
HP:0001643	HP:0001643	Patent ductus arteriosus	0	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII		39
HP:0001643	HP:0001643	Patent ductus arteriosus	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040283 - Occasional
HP:0001643	HP:0001643	Patent ductus arteriosus	0	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	HP:0040282 - Frequent	5
HP:0001643	HP:0001643	Patent ductus arteriosus	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA		5
HP:0001643	HP:0001643	Patent ductus arteriosus	0	IGF2 CL E G H	3481	5466	OMIM:616489	Growth restriction, severe, with distinctive facies	HP:0040283 - Occasional	9
HP:0001643	HP:0001643	Patent ductus arteriosus	0	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome	HP:0040281 - Very frequent
HP:0001643	HP:0001643	Patent ductus arteriosus	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001643	HP:0001643	Patent ductus arteriosus	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	2
HP:0001643	HP:0001643	Patent ductus arteriosus	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0001643	HP:0001643	Patent ductus arteriosus	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome	.	34
HP:0001643	HP:0001643	Patent ductus arteriosus	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040282 - Frequent	34
HP:0001643	HP:0001643	Patent ductus arteriosus	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent	141
HP:0001643	HP:0001643	Patent ductus arteriosus	0	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0001643	HP:0001643	Patent ductus arteriosus	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	1
HP:0001643	HP:0001643	Patent ductus arteriosus	0	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040283 - Occasional	5
HP:0001643	HP:0001643	Patent ductus arteriosus	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.	13
HP:0001643	HP:0001643	Patent ductus arteriosus	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040282 - Frequent	23
HP:0001643	HP:0001643	Patent ductus arteriosus	0	KCNN3 CL E G H	3782	6292	OMIM:618658	ZIMMERMANN-LABAND SYNDROME 3; ZLS3		7
HP:0001643	HP:0001643	Patent ductus arteriosus	0	KMT2B CL E G H	9757	15840	OMIM:619934			11
HP:0001643	HP:0001643	Patent ductus arteriosus	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3	.	196
HP:0001643	HP:0001643	Patent ductus arteriosus	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.	196
HP:0001643	HP:0001643	Patent ductus arteriosus	0	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2	.	5
HP:0001643	HP:0001643	Patent ductus arteriosus	0	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia	.	54
HP:0001643	HP:0001643	Patent ductus arteriosus	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001643	HP:0001643	Patent ductus arteriosus	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type		46
HP:0001643	HP:0001643	Patent ductus arteriosus	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	645
HP:0001643	HP:0001643	Patent ductus arteriosus	0	LMX1B CL E G H	4010	6654	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	165
HP:0001643	HP:0001643	Patent ductus arteriosus	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	6
HP:0001643	HP:0001643	Patent ductus arteriosus	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001643	HP:0001643	Patent ductus arteriosus	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10		43
HP:0001643	HP:0001643	Patent ductus arteriosus	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2		43
HP:0001643	HP:0001643	Patent ductus arteriosus	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0001643	HP:0001643	Patent ductus arteriosus	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040283 - Occasional	21
HP:0001643	HP:0001643	Patent ductus arteriosus	0	MAP1B CL E G H	4131	6836	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent
HP:0001643	HP:0001643	Patent ductus arteriosus	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1	.	134
HP:0001643	HP:0001643	Patent ductus arteriosus	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.	11
HP:0001643	HP:0001643	Patent ductus arteriosus	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0001643	HP:0001643	Patent ductus arteriosus	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.	21
HP:0001643	HP:0001643	Patent ductus arteriosus	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	13
HP:0001643	HP:0001643	Patent ductus arteriosus	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040283 - Occasional	3
HP:0001643	HP:0001643	Patent ductus arteriosus	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0001643	HP:0001643	Patent ductus arteriosus	0	MEGF8 CL E G H	1954	3233	ORPHA:65759	Carpenter syndrome	HP:0040283 - Occasional	13
HP:0001643	HP:0001643	Patent ductus arteriosus	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	.	13
HP:0001643	HP:0001643	Patent ductus arteriosus	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001643	HP:0001643	Patent ductus arteriosus	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	11
HP:0001643	HP:0001643	Patent ductus arteriosus	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional	39
HP:0001643	HP:0001643	Patent ductus arteriosus	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0001643	HP:0001643	Patent ductus arteriosus	0	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040283 - Occasional	69
HP:0001643	HP:0001643	Patent ductus arteriosus	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0001643	HP:0001643	Patent ductus arteriosus	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0001643	HP:0001643	Patent ductus arteriosus	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001643	HP:0001643	Patent ductus arteriosus	0	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2	.	60
HP:0001643	HP:0001643	Patent ductus arteriosus	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1	.	35
HP:0001643	HP:0001643	Patent ductus arteriosus	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040283 - Occasional	35
HP:0001643	HP:0001643	Patent ductus arteriosus	0	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4		418
HP:0001643	HP:0001643	Patent ductus arteriosus	0	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection	HP:0040282 - Frequent	418
HP:0001643	HP:0001643	Patent ductus arteriosus	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	418
HP:0001643	HP:0001643	Patent ductus arteriosus	0	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0001643	HP:0001643	Patent ductus arteriosus	0	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve	HP:0040282 - Frequent	1269
HP:0001643	HP:0001643	Patent ductus arteriosus	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	326
HP:0001643	HP:0001643	Patent ductus arteriosus	0	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL		3
HP:0001643	HP:0001643	Patent ductus arteriosus	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	.	2
HP:0001643	HP:0001643	Patent ductus arteriosus	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0001643	HP:0001643	Patent ductus arteriosus	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0001643	HP:0001643	Patent ductus arteriosus	0	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0001643	HP:0001643	Patent ductus arteriosus	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.	2
HP:0001643	HP:0001643	Patent ductus arteriosus	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0001643	HP:0001643	Patent ductus arteriosus	0	NEDD4L CL E G H	23327	7728	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	30
HP:0001643	HP:0001643	Patent ductus arteriosus	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.	40
HP:0001643	HP:0001643	Patent ductus arteriosus	0	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional	90
HP:0001643	HP:0001643	Patent ductus arteriosus	0	NKX2-5 CL E G H	1482	2488	OMIM:614432	Ventricular septal defect 3	HP:0040283 - Occasional	90
HP:0001643	HP:0001643	Patent ductus arteriosus	0	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional	3
HP:0001643	HP:0001643	Patent ductus arteriosus	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0001643	HP:0001643	Patent ductus arteriosus	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0001643	HP:0001643	Patent ductus arteriosus	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0001643	HP:0001643	Patent ductus arteriosus	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional	138
HP:0001643	HP:0001643	Patent ductus arteriosus	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0001643	HP:0001643	Patent ductus arteriosus	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0001643	HP:0001643	Patent ductus arteriosus	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0001643	HP:0001643	Patent ductus arteriosus	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.	157
HP:0001643	HP:0001643	Patent ductus arteriosus	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	544
HP:0001643	HP:0001643	Patent ductus arteriosus	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0001643	HP:0001643	Patent ductus arteriosus	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome	.	24
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040283 - Occasional	531
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.	169
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.	62
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.	37
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional	12
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.	12
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040283 - Occasional
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional
HP:0001643	HP:0001643	Patent ductus arteriosus	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0001643	HP:0001643	Patent ductus arteriosus	0	POLR1A CL E G H	25885	17264	OMIM:616462	Acrofacial dysostosis, Cincinnati type	.	8
HP:0001643	HP:0001643	Patent ductus arteriosus	0	POLR1B CL E G H	84172	20454	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional
HP:0001643	HP:0001643	Patent ductus arteriosus	0	POLR1C CL E G H	9533	20194	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	38
HP:0001643	HP:0001643	Patent ductus arteriosus	0	POLR1D CL E G H	51082	20422	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	31
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional	20
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2	.	9
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	148
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PRDM6 CL E G H	93166	9350	OMIM:617039	Patent ductus arteriosus 3		3
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	41
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome		4
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome		4
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional	948
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1	.	291
HP:0001643	HP:0001643	Patent ductus arteriosus	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0001643	HP:0001643	Patent ductus arteriosus	0	RAB23 CL E G H	51715	14263	ORPHA:65759	Carpenter syndrome	HP:0040283 - Occasional	31
HP:0001643	HP:0001643	Patent ductus arteriosus	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1		31
HP:0001643	HP:0001643	Patent ductus arteriosus	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0001643	HP:0001643	Patent ductus arteriosus	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional	3
HP:0001643	HP:0001643	Patent ductus arteriosus	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0001643	HP:0001643	Patent ductus arteriosus	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0001643	HP:0001643	Patent ductus arteriosus	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0001643	HP:0001643	Patent ductus arteriosus	0	RBP4 CL E G H	5950	9922	OMIM:615147	Retinal dystrophy, iris coloboma, and comedogenic acne syndrome	.	8
HP:0001643	HP:0001643	Patent ductus arteriosus	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	16
HP:0001643	HP:0001643	Patent ductus arteriosus	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0001643	HP:0001643	Patent ductus arteriosus	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001643	HP:0001643	Patent ductus arteriosus	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0001643	HP:0001643	Patent ductus arteriosus	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8		39
HP:0001643	HP:0001643	Patent ductus arteriosus	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.	22
HP:0001643	HP:0001643	Patent ductus arteriosus	0	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6	.	40
HP:0001643	HP:0001643	Patent ductus arteriosus	0	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	HP:0040283 - Occasional	20
HP:0001643	HP:0001643	Patent ductus arteriosus	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001643	HP:0001643	Patent ductus arteriosus	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	HP:0040283 - Occasional	2
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome		86
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	.	8
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	16
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	60
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	HP:0040283 - Occasional	49
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type	.
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.	20
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	150
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SLC25A24 CL E G H	29957	20662	ORPHA:2095	Gorlin-Chaudhry-Moss syndrome	HP:0040282 - Frequent
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome		68
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	7
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040284 - Very rare	260
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	260
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	504
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.	504
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	617
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	87
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	1
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	47
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.	6
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional	14
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	14
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome	HP:0040283 - Occasional	33
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.	33
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040283 - Occasional	6
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	4
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SSR4 CL E G H	6748	11326	ORPHA:370927	SSR4-CDG	HP:0040284 - Very rare	12
HP:0001643	HP:0001643	Patent ductus arteriosus	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0001643	HP:0001643	Patent ductus arteriosus	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.	71
HP:0001643	HP:0001643	Patent ductus arteriosus	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001643	HP:0001643	Patent ductus arteriosus	0	STXBP1 CL E G H	6812	11444	ORPHA:495818	9q33.3q34.11 microdeletion syndrome	HP:0040283 - Occasional	237
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040284 - Very rare	60
HP:0001643	HP:0001643	Patent ductus arteriosus	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.	34
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional	32
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.	32
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040282 - Frequent	55
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome		123
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome	HP:0040283 - Occasional	123
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TCOF1 CL E G H	6949	11654	ORPHA:861	Treacher-Collins syndrome	HP:0040283 - Occasional	140
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome	HP:0040281 - Very frequent	104
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TFAP2B CL E G H	7021	11743	OMIM:169100	Char syndrome	.	104
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TFAP2B CL E G H	7021	11743	OMIM:617035	Patent ductus arteriosus 2	.	104
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	162
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	85
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	239
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome	HP:0040281 - Very frequent	239
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	253
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome	HP:0040281 - Very frequent	253
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0001643	HP:0001643	Patent ductus arteriosus	0	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome	.	1
HP:0001643	HP:0001643	Patent ductus arteriosus	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional	1
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects	.	4
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040283 - Occasional	4
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	HP:0040283 - Occasional	6
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.	1
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TMTC3 CL E G H	160418	26899	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent	5
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.	140
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44		8
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TRIP11 CL E G H	9321	12305	ORPHA:166272	Odontochondrodysplasia	HP:0040283 - Occasional	133
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.	43
HP:0001643	HP:0001643	Patent ductus arteriosus	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001643	HP:0001643	Patent ductus arteriosus	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7
HP:0001643	HP:0001643	Patent ductus arteriosus	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0001643	HP:0001643	Patent ductus arteriosus	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001643	HP:0001643	Patent ductus arteriosus	0	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0001643	HP:0001643	Patent ductus arteriosus	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001643	HP:0001643	Patent ductus arteriosus	0	UMPS CL E G H	7372	12563	ORPHA:30	Hereditary orotic aciduria	HP:0040282 - Frequent	135
HP:0001643	HP:0001643	Patent ductus arteriosus	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2	.	2
HP:0001643	HP:0001643	Patent ductus arteriosus	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.	27
HP:0001643	HP:0001643	Patent ductus arteriosus	0	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:0001643	HP:0001643	Patent ductus arteriosus	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040282 - Frequent	1
HP:0001643	HP:0001643	Patent ductus arteriosus	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome		1
HP:0001643	HP:0001643	Patent ductus arteriosus	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001643	HP:0001643	Patent ductus arteriosus	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040283 - Occasional	20
HP:0001643	HP:0001643	Patent ductus arteriosus	0	WDPCP CL E G H	51057	28027	ORPHA:1338	Heart defect-tongue hamartoma-polysyndactyly syndrome	HP:0040281 - Very frequent	60
HP:0001643	HP:0001643	Patent ductus arteriosus	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0001643	HP:0001643	Patent ductus arteriosus	0	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0001643	HP:0001643	Patent ductus arteriosus	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0001643	HP:0001643	Patent ductus arteriosus	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0001643	HP:0001643	Patent ductus arteriosus	0	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040283 - Occasional	177
HP:0001643	HP:0001643	Patent ductus arteriosus	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0001643	HP:0001643	Patent ductus arteriosus	0	XRCC2 CL E G H	7516	12829	OMIM:617247	FANCONI ANEMIA, COMPLEMENTATION GROUP U	.	125
HP:0001643	HP:0001643	Patent ductus arteriosus	0	YY1AP1 CL E G H	55249	30935	ORPHA:79094	Grange syndrome	HP:0040283 - Occasional	5
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare	362
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040281 - Very frequent	83
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.	83
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	.	4
HP:0001643	HP:0001643	Patent ductus arteriosus	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001643	HP:0011650	Bilateral ductus arteriosus	1	CL E G H
HP:0001643	HP:0011649	Patent ductus arteriosus after premature birth	1	CL E G H
HP:0001643	HP:0011648	Patent ductus arteriosus after birth at term	1	BPTF CL E G H	2186	3581	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0001643	HP:0011648	Patent ductus arteriosus after birth at term	1	CALM3 CL E G H	808	1449	OMIM:618782	LONG QT SYNDROME 16; LQT16		16
HP:0001643	HP:0011648	Patent ductus arteriosus after birth at term	1	PSMD12 CL E G H	5718	9557	ORPHA:529962	17q24.2 microdeletion syndrome	HP:0040283 - Occasional	4
HP:0001643	HP:0011648	Patent ductus arteriosus after birth at term	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12

Genes (348) :ABCC9 ABCD4 ACSL4 ACTA2 ACTB ADAMTS10 ADAT3 AFF4 AGGF1 AGO2 ALB ALG12 ALG8 AMER1 AMMECR1 ANK1 ANKS6 APC2 ARF1 ARFGEF2 ARID1A ARID1B ARID2 ARL6IP6 ARSL ARVCF ARX ASCC1 ASXL2 B3GLCT BAZ1B BCL7B BCOR BMPR1A BPTF BRAF BRCA1 BRCA2 BRIP1 BUD23 C2CD3 CACNA1C CADM3 CALM3 CASZ1 CCDC22 CD96 CDC42 CDC42BPB CEP120 CHD4 CHD7 CHRM3 CIROP CLIP2 COA6 COG6 COL18A1 COMT COQ4 CREBBP CSGALNACT1 CTCF CTU2 DACT1 DHCR24 DHCR7 DMPK DNAH9 DNAJC30 DNMT3A DPF2 DPM1 DTNA DVL3 DYNC2LI1 DYRK1A ECE1 EED EIF4H ELN EOGT EP300 ERCC4 ERMARD ESCO2 EXT2 EZH2 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FBN1 FBN2 FGF10 FGFR2 FGFR3 FKBP14 FKBP6 FLNA FOCAD FOXC1 FOXC2 FOXE3 FOXF1 FTO G6PC3 GABRD GATA1 GATA4 GATA6 GJA1 GJA5 GJA8 GLB1 GLI3 GLYCTK GNA11 GP1BB GPC3 GPC4 GTF2I GTF2IRD1 GTF2IRD2 HACD1 HDAC4 HEY2 HIRA HPGD HSPG2 HTRA2 HYMAI IGBP1 IGF2 IPO8 JMJD1C KANSL1 KAT6A KAT6B KAT8 KCNAB2 KCNE5 KCNH1 KCNJ8 KCNN3 KMT2B KRAS KYNU LARS2 LIMK1 LMBRD1 LMNA LMX1B LOX LUZP1 LZTR1 MAD2L2 MAF MAP1B MAP2K1 MAP3K7 MAPKAPK5 MASP1 MAT2A MCTP2 MED12 MEGF8 METTL27 MFAP5 MGAT2 MID1 MKKS MKS1 MLXIPL MMP23B MRPS16 MYCN MYH11 MYH7 MYLK MYOCD MYRF NAA10 NAA20 NADSYN1 NCAPG2 NCF1 NEDD4L NFIX NKX2-5 NKX2-6 NODAL NONO NOTCH2 NOTCH3 NPHP3 NSD1 OCLN PACS1 PAK2 PALB2 PCGF2 PCNT PDPN PEX1 PEX19 PHGDH PIGA PIGN PIGT PLAGL1 PLCB3 PLXND1 POGZ POLR1A POLR1B POLR1C POLR1D PORCN PPFIBP1 PPP1CB PRDM13 PRDM16 PRDM6 PRIM1 PRKCZ PRKG1 PSMD12 PTEN PTPN11 PUF60 RAB23 RAC1 RAD51 RAD51C RBM8A RBP4 RERE RFC2 RFWD3 RIT1 RPL11 RPL5 RPS26 RREB1 RSPRY1 SALL1 SALL4 SAMD9 SEC24C SEMA3E SETD2 SF3B2 SF3B4 SHANK3 SIK3 SIX6 SKI SKIC2 SKIC3 SLC25A24 SLC29A3 SLX4 SMAD2 SMAD3 SMAD4 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC3 SNRPB SNRPN SNX14 SON SOX11 SOX2 SOX4 SPECC1L SPEN SSR4 STAG2 STRA6 STX1A STXBP1 SUCLG1 SUPT16H TALDO1 TBC1D24 TBL2 TBX1 TBX2 TBX4 TBX5 TCOF1 TFAP2B TGFB2 TGFB3 TGFBR1 TGFBR2 THOC6 TKT TMCO1 TMEM270 TMEM94 TMTC3 TP63 TRAF7 TRIO TRIP11 TRIP4 TRRAP TSFM TTC26 UBE2A UBE2T UBE4B UBR7 UFD1 UMPS USP18 USP9X VPS33A VPS37D WAC WDPCP WDR35 WDR37 WLS WT1 XRCC2 YY1AP1 ZBTB7A ZEB2 ZIC3 ZMIZ1 ZMPSTE24 ZMYM2 ZNF148 ZNF699

Diseases (305) :OMIM:239850 ORPHA:1517 OMIM:614857 ORPHA:86818 ORPHA:91387 OMIM:613834 OMIM:243310 OMIM:277600 ORPHA:363528 OMIM:616368 ORPHA:444077 ORPHA:90308 OMIM:619149 OMIM:616000 ORPHA:79324 OMIM:607143 OMIM:608104 OMIM:300373 OMIM:300990 ORPHA:251066 OMIM:615382 ORPHA:821 ORPHA:98892 ORPHA:1465 OMIM:135900 ORPHA:1556 ORPHA:79345 ORPHA:567 ORPHA:452 OMIM:616867 OMIM:617190 ORPHA:709 OMIM:261540 ORPHA:904 OMIM:300166 ORPHA:2712 ORPHA:79076 ORPHA:529962 OMIM:163950 ORPHA:84 ORPHA:434179 OMIM:615948 OMIM:601005 OMIM:619519 OMIM:618782 ORPHA:1606 OMIM:300963 OMIM:211750 ORPHA:487796 OMIM:616737 OMIM:619841 OMIM:616300 OMIM:617159 OMIM:214800 ORPHA:138 ORPHA:2970 OMIM:100100 OMIM:619702 OMIM:616501 OMIM:614576 ORPHA:1571 OMIM:267750 OMIM:616276 OMIM:180849 ORPHA:353281 ORPHA:353277 OMIM:618870 ORPHA:363611 OMIM:615502 OMIM:618142 ORPHA:857 OMIM:602398 ORPHA:35107 OMIM:270400 ORPHA:818 ORPHA:589821 OMIM:618300 ORPHA:404443 OMIM:608799 OMIM:604169 OMIM:616894 OMIM:617088 ORPHA:464311 OMIM:613870 OMIM:617561 OMIM:615297 ORPHA:353284 OMIM:268300 OMIM:616682 OMIM:277590 OMIM:300514 OMIM:227646 OMIM:603467 OMIM:608328 OMIM:121050 ORPHA:2363 ORPHA:1860 ORPHA:93274 OMIM:614557 ORPHA:555877 OMIM:300049 OMIM:300048 ORPHA:99811 OMIM:619991 OMIM:602482 ORPHA:33001 OMIM:153400 OMIM:265380 ORPHA:210122 OMIM:612938 OMIM:612541 OMIM:190685 ORPHA:251071 OMIM:607941 OMIM:600001 ORPHA:2255 ORPHA:2248 OMIM:612474 OMIM:230600 ORPHA:672 OMIM:146510 OMIM:220120 OMIM:312870 OMIM:619967 OMIM:619797 OMIM:259100 OMIM:617248 ORPHA:96191 ORPHA:52055 OMIM:300472 OMIM:616489 ORPHA:60030 OMIM:619472 OMIM:610443 OMIM:616268 ORPHA:457193 ORPHA:3047 OMIM:618974 OMIM:135500 OMIM:618658 OMIM:619934 OMIM:609942 OMIM:600268 OMIM:617661 OMIM:617021 OMIM:277380 ORPHA:1662 ORPHA:495818 OMIM:616564 OMIM:605275 ORPHA:1272 OMIM:617137 OMIM:619869 OMIM:257920 ORPHA:1596 OMIM:301068 ORPHA:65759 OMIM:614976 ORPHA:79329 ORPHA:2745 ORPHA:2473 OMIM:249000 OMIM:610498 OMIM:164280 ORPHA:391641 OMIM:132900 ORPHA:229 OMIM:619351 ORPHA:1880 OMIM:618719 OMIM:618280 OMIM:300855 OMIM:619717 OMIM:618845 OMIM:618460 OMIM:602535 OMIM:614432 ORPHA:3384 OMIM:270100 ORPHA:466791 OMIM:300967 ORPHA:955 OMIM:102500 OMIM:130720 OMIM:267010 OMIM:208540 OMIM:117550 OMIM:251290 ORPHA:329224 OMIM:615009 OMIM:618458 OMIM:618371 ORPHA:2637 OMIM:214100 OMIM:614886 OMIM:256520 OMIM:300868 ORPHA:280633 OMIM:614080 ORPHA:369837 OMIM:615398 OMIM:618961 OMIM:616364 OMIM:616462 ORPHA:861 ORPHA:2092 OMIM:620024 OMIM:617506 OMIM:619909 OMIM:617039 OMIM:620005 OMIM:617516 ORPHA:508488 OMIM:201000 OMIM:617751 ORPHA:500159 OMIM:274000 OMIM:615147 OMIM:616975 OMIM:615355 OMIM:612562 OMIM:612561 OMIM:613309 ORPHA:457395 OMIM:147750 OMIM:617053 OMIM:164210 OMIM:154400 OMIM:606232 OMIM:618162 OMIM:206900 ORPHA:84064 OMIM:612289 ORPHA:2095 OMIM:602782 OMIM:619657 ORPHA:284984 OMIM:613795 OMIM:139210 OMIM:619293 OMIM:610759 OMIM:117650 ORPHA:177907 ORPHA:397709 ORPHA:500150 OMIM:617140 ORPHA:77298 ORPHA:1519 ORPHA:370927 OMIM:301043 OMIM:601186 ORPHA:17 OMIM:619480 OMIM:606003 OMIM:220500 OMIM:188400 OMIM:618223 ORPHA:261279 OMIM:142900 ORPHA:392 ORPHA:46627 OMIM:169100 OMIM:617035 OMIM:609192 OMIM:610168 OMIM:613680 ORPHA:363444 OMIM:617044 ORPHA:488618 OMIM:213980 OMIM:618316 OMIM:106260 OMIM:618164 OMIM:617061 ORPHA:166272 OMIM:616866 OMIM:618454 OMIM:610505 OMIM:619534 ORPHA:163956 OMIM:619189 ORPHA:30 OMIM:617397 OMIM:300968 ORPHA:480880 ORPHA:505248 OMIM:617303 ORPHA:284169 ORPHA:1338 OMIM:613610 OMIM:618652 OMIM:619648 OMIM:608978 ORPHA:3097 OMIM:617247 ORPHA:79094 OMIM:619769 OMIM:235730 ORPHA:261552 OMIM:306955 OMIM:618659 OMIM:275210 OMIM:619522 OMIM:617260 OMIM:619488

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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