Human Phenotype Ontology

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

Grandparent Node:
Abnormal atrial septum morphology (HP:0011994)

Grandparent Node:
Abnormal cardiac atrium morphology (HP:0005120)

Parent Node:
Atrial septal defect (HP:0001631)

..Starting node
..Patent foramen ovale (HP:0001655)

Term ID:

1655

Name:

Patent foramen ovale

Synonym:

Persistent foramen ovale

Definition:

Failure of the foramen ovale to seal postnatally, leaving a potential conduit between the left and right cardiac atria.

Comments:

Reference:

HP:0001655

Genes and Diseases:

Child Nodes:

Sister Nodes:

Primum atrial septal defect (HP:0010445)

Secundum atrial septal defect (HP:0001684)

Sinus venosus atrial septal defect (HP:0011567)

Swiss cheese atrial septal defect (HP:0031017)

Unroofed coronary sinus (HP:0031297)

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:0001655	HP:0001655	Patent foramen ovale	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	200
HP:0001655	HP:0001655	Patent foramen ovale	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome		6
HP:0001655	HP:0001655	Patent foramen ovale	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:0040283 - Occasional	6
HP:0001655	HP:0001655	Patent foramen ovale	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0001655	HP:0001655	Patent foramen ovale	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040284 - Very rare	68
HP:0001655	HP:0001655	Patent foramen ovale	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.	68
HP:0001655	HP:0001655	Patent foramen ovale	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis		2
HP:0001655	HP:0001655	Patent foramen ovale	0	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0001655	HP:0001655	Patent foramen ovale	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2		2
HP:0001655	HP:0001655	Patent foramen ovale	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0001655	HP:0001655	Patent foramen ovale	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.	5
HP:0001655	HP:0001655	Patent foramen ovale	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0001655	HP:0001655	Patent foramen ovale	0	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome	HP:0040283 - Occasional	572
HP:0001655	HP:0001655	Patent foramen ovale	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	HP:0040283 - Occasional	51
HP:0001655	HP:0001655	Patent foramen ovale	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001655	HP:0001655	Patent foramen ovale	0	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0001655	HP:0001655	Patent foramen ovale	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8		19
HP:0001655	HP:0001655	Patent foramen ovale	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.	165
HP:0001655	HP:0001655	Patent foramen ovale	0	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001655	HP:0001655	Patent foramen ovale	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.	215
HP:0001655	HP:0001655	Patent foramen ovale	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1		291
HP:0001655	HP:0001655	Patent foramen ovale	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0001655	HP:0001655	Patent foramen ovale	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001655	HP:0001655	Patent foramen ovale	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001655	HP:0001655	Patent foramen ovale	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001655	HP:0001655	Patent foramen ovale	0	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.	13
HP:0001655	HP:0001655	Patent foramen ovale	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3		5
HP:0001655	HP:0001655	Patent foramen ovale	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1		250
HP:0001655	HP:0001655	Patent foramen ovale	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0001655	HP:0001655	Patent foramen ovale	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0001655	HP:0001655	Patent foramen ovale	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0001655	HP:0001655	Patent foramen ovale	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0001655	HP:0001655	Patent foramen ovale	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome	.	332
HP:0001655	HP:0001655	Patent foramen ovale	0	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome		493
HP:0001655	HP:0001655	Patent foramen ovale	0	FOCAD CL E G H	54914	23377	OMIM:619991			3
HP:0001655	HP:0001655	Patent foramen ovale	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0001655	HP:0001655	Patent foramen ovale	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included		29
HP:0001655	HP:0001655	Patent foramen ovale	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects		37
HP:0001655	HP:0001655	Patent foramen ovale	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040281 - Very frequent	37
HP:0001655	HP:0001655	Patent foramen ovale	0	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome	HP:0040283 - Occasional	7
HP:0001655	HP:0001655	Patent foramen ovale	0	GNB5 CL E G H	10681	4401	OMIM:617182	Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia		7
HP:0001655	HP:0001655	Patent foramen ovale	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional	240
HP:0001655	HP:0001655	Patent foramen ovale	0	HACD1 CL E G H	9200	9639	OMIM:619967			2
HP:0001655	HP:0001655	Patent foramen ovale	0	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome	.	6
HP:0001655	HP:0001655	Patent foramen ovale	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.	268
HP:0001655	HP:0001655	Patent foramen ovale	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001655	HP:0001655	Patent foramen ovale	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional	10
HP:0001655	HP:0001655	Patent foramen ovale	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0001655	HP:0001655	Patent foramen ovale	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0001655	HP:0001655	Patent foramen ovale	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0001655	HP:0001655	Patent foramen ovale	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.	92
HP:0001655	HP:0001655	Patent foramen ovale	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11
HP:0001655	HP:0001655	Patent foramen ovale	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.	11
HP:0001655	HP:0001655	Patent foramen ovale	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR		228
HP:0001655	HP:0001655	Patent foramen ovale	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional	74
HP:0001655	HP:0001655	Patent foramen ovale	0	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects	.	74
HP:0001655	HP:0001655	Patent foramen ovale	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0001655	HP:0001655	Patent foramen ovale	0	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9		13
HP:0001655	HP:0001655	Patent foramen ovale	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001655	HP:0001655	Patent foramen ovale	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0001655	HP:0001655	Patent foramen ovale	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.	2
HP:0001655	HP:0001655	Patent foramen ovale	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional	96
HP:0001655	HP:0001655	Patent foramen ovale	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040284 - Very rare	1952
HP:0001655	HP:0001655	Patent foramen ovale	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare	51
HP:0001655	HP:0001655	Patent foramen ovale	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0001655	HP:0001655	Patent foramen ovale	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34		10
HP:0001655	HP:0001655	Patent foramen ovale	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	.	452
HP:0001655	HP:0001655	Patent foramen ovale	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria		23
HP:0001655	HP:0001655	Patent foramen ovale	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0001655	HP:0001655	Patent foramen ovale	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome	.	24
HP:0001655	HP:0001655	Patent foramen ovale	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0001655	HP:0001655	Patent foramen ovale	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040282 - Frequent	37
HP:0001655	HP:0001655	Patent foramen ovale	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001655	HP:0001655	Patent foramen ovale	0	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental	.	4
HP:0001655	HP:0001655	Patent foramen ovale	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome		35
HP:0001655	HP:0001655	Patent foramen ovale	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0001655	HP:0001655	Patent foramen ovale	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare	10
HP:0001655	HP:0001655	Patent foramen ovale	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001655	HP:0001655	Patent foramen ovale	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0001655	HP:0001655	Patent foramen ovale	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:0001655	HP:0001655	Patent foramen ovale	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional	150
HP:0001655	HP:0001655	Patent foramen ovale	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional	334
HP:0001655	HP:0001655	Patent foramen ovale	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0001655	HP:0001655	Patent foramen ovale	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1		69
HP:0001655	HP:0001655	Patent foramen ovale	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0001655	HP:0001655	Patent foramen ovale	0	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0001655	HP:0001655	Patent foramen ovale	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:0001655	HP:0001655	Patent foramen ovale	0	SCUBE3 CL E G H	222663	13655	OMIM:619184	SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 2; SSFSC2		1
HP:0001655	HP:0001655	Patent foramen ovale	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0001655	HP:0001655	Patent foramen ovale	0	SETD1A CL E G H	9739	29010	OMIM:618832	EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD		6
HP:0001655	HP:0001655	Patent foramen ovale	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0001655	HP:0001655	Patent foramen ovale	0	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0001655	HP:0001655	Patent foramen ovale	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0001655	HP:0001655	Patent foramen ovale	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0001655	HP:0001655	Patent foramen ovale	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.	24
HP:0001655	HP:0001655	Patent foramen ovale	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional	89
HP:0001655	HP:0001655	Patent foramen ovale	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040284 - Very rare	60
HP:0001655	HP:0001655	Patent foramen ovale	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.	34
HP:0001655	HP:0001655	Patent foramen ovale	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0001655	HP:0001655	Patent foramen ovale	0	TBX20 CL E G H	57057	11598	OMIM:611363	ATRIAL SEPTAL DEFECT 4; ASD4		20
HP:0001655	HP:0001655	Patent foramen ovale	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0001655	HP:0001655	Patent foramen ovale	0	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects	.	4
HP:0001655	HP:0001655	Patent foramen ovale	0	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040283 - Occasional	4
HP:0001655	HP:0001655	Patent foramen ovale	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0001655	HP:0001655	Patent foramen ovale	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.	1
HP:0001655	HP:0001655	Patent foramen ovale	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional
HP:0001655	HP:0001655	Patent foramen ovale	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1		4
HP:0001655	HP:0001655	Patent foramen ovale	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0001655	HP:0001655	Patent foramen ovale	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.	43
HP:0001655	HP:0001655	Patent foramen ovale	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001655	HP:0001655	Patent foramen ovale	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional	7
HP:0001655	HP:0001655	Patent foramen ovale	0	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS		1
HP:0001655	HP:0001655	Patent foramen ovale	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional	1
HP:0001655	HP:0001655	Patent foramen ovale	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1		63
HP:0001655	HP:0001655	Patent foramen ovale	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.	136
HP:0001655	HP:0001655	Patent foramen ovale	0	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0001655	HP:0001655	Patent foramen ovale	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0001655	HP:0001655	Patent foramen ovale	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0001655	HP:0001655	Patent foramen ovale	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0001655	HP:0001655	Patent foramen ovale	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked		39
HP:0001655	HP:0001655	Patent foramen ovale	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS

Genes (109) :ACADVL AFF4 AGO2 ALG12 AMMECR1 ANAPC7 ASCC1 ATN1 B3GAT3 BICRA CACNA1C CACNA1D CDC42BPB CDK8 CHMP1A CHST3 CIROP COL11A1 CREBBP CSGALNACT1 DDX6 DPF2 DSE DVL3 EP300 FANCI FBXW11 FIG4 FLCN FLNA FOCAD FOXF1 GATA1 GATA6 GNB5 GNPTAB HACD1 HSPA9 IGF1R IPO8 KATNB1 KDM1A KRAS LMNB1 LTBP4 MAP3K7 MED12 MED13L MID1 MRPL3 MTX2 NAA10 NCAPG2 NDE1 NF1 NKX2-1 NONO NOTCH1 OCLN PACS1 PHGDH PIGN PKDCC PLD1 POGZ PPP1CB PPP2R5D PRIM1 PRR12 RAC1 RAI1 RELN RERE RIPK4 RNU4ATAC RPL3L RSPRY1 SCUBE3 SDHD SETD1A SH3PXD2B SMG8 SNRPN STAG2 STAMBP STAT1 SUCLG1 TALDO1 TASP1 TBX20 TGFB3 TKT TMEM147 TMEM94 TOM1 TRIP4 TRRAP TSFM TTC26 UBE2A UBR7 VPS33A VPS33B WDR35 WDR37 WLS YY1 ZIC3 ZNF699

Diseases (116) :ORPHA:26793 OMIM:616368 ORPHA:444077 OMIM:619149 ORPHA:79324 OMIM:607143 OMIM:300990 OMIM:619699 OMIM:616867 OMIM:618494 OMIM:245600 OMIM:619325 OMIM:601005 OMIM:615474 OMIM:619841 OMIM:618748 OMIM:614961 OMIM:619702 OMIM:228520 OMIM:180849 ORPHA:353277 OMIM:618870 OMIM:618653 OMIM:618027 OMIM:615539 OMIM:616894 ORPHA:353284 OMIM:609053 OMIM:618914 OMIM:216340 OMIM:610883 ORPHA:88630 OMIM:619991 OMIM:265380 OMIM:190685 OMIM:600001 ORPHA:2255 ORPHA:542306 OMIM:617182 ORPHA:576 OMIM:619967 OMIM:616854 OMIM:270450 OMIM:619472 ORPHA:89844 ORPHA:477993 OMIM:609942 OMIM:619179 OMIM:613177 OMIM:157800 OMIM:617137 OMIM:301068 ORPHA:369891 OMIM:616789 ORPHA:2745 OMIM:614582 OMIM:619127 OMIM:300855 OMIM:618460 ORPHA:363700 ORPHA:209905 ORPHA:466791 OMIM:300967 OMIM:616028 OMIM:251290 ORPHA:329224 OMIM:615009 OMIM:256520 ORPHA:280633 OMIM:618821 OMIM:212093 OMIM:616364 OMIM:617506 ORPHA:457279 OMIM:620005 OMIM:619539 ORPHA:500159 ORPHA:477817 OMIM:616975 OMIM:263650 OMIM:210710 OMIM:619371 ORPHA:457395 OMIM:619184 OMIM:619167 OMIM:618832 OMIM:249420 OMIM:619268 ORPHA:177907 OMIM:301043 OMIM:614261 ORPHA:391487 ORPHA:17 OMIM:606003 OMIM:618950 OMIM:611363 OMIM:615582 OMIM:617044 ORPHA:488618 OMIM:620075 OMIM:618316 OMIM:616866 OMIM:618454 OMIM:610505 OMIM:619534 ORPHA:163956 OMIM:619189 ORPHA:505248 OMIM:208085 OMIM:613610 OMIM:618652 OMIM:619648 ORPHA:506358 OMIM:617557 OMIM:306955 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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