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:
Abnormality of the cardiovascular system (HP:0001626)

Parent Node:
Abnormality of cardiovascular system morphology (HP:0030680)

..Starting node
..Abnormal heart morphology (HP:0001627)

Term ID:

1627

Name:

Abnormal heart morphology

Synonym:

Abnormality of cardiac morphology; Abnormality of the heart; Abnormally shaped heart; Cardiac abnormality; Cardiac anomalies; Cardiac anomaly; Congenital heart defect; Congenital heart defects; Heart defect

Definition:

Any structural anomaly of the heart.

Comments:

Reference:

HP:0001627

Genes and Diseases:

Child Nodes:

........

Abnormal myocardium morphology (HP:0001637)

................... HP:0001638 Cardiomyopathy
................... HP:0001685 Myocardial fibrosis
................... HP:0001700 Myocardial necrosis
................... HP:0003338 Focal necrosis of right ventricular muscle cells
................... HP:0012819 Myocarditis
................... HP:0030681 Abnormal morphology of myocardial trabeculae
................... HP:0030843 Cardiac amyloidosis
................... HP:0031316 Abnormal ventricular myocardium morphology
................... HP:0031317 Fatty replacement of ventricular myocardial tissue
................... HP:0031318 Myofiber disarray
................... HP:0031321 Myocardial immune cell infiltration

........

Cardiomegaly (HP:0001640)

........

Abnormal heart valve morphology (HP:0001654)

................... HP:0001641 Abnormal pulmonary valve morphology
................... HP:0001646 Abnormal aortic valve morphology
................... HP:0005146 Cardiac valve calcification
................... HP:0006705 Abnormal atrioventricular valve morphology

........

Abnormal cardiac septum morphology (HP:0001671)

................... HP:0006695 Atrioventricular canal defect
................... HP:0010438 Abnormal ventricular septum morphology
................... HP:0011994 Abnormal atrial septum morphology

........

Abnormal pericardium morphology (HP:0001697)

................... HP:0001698 Pericardial effusion
................... HP:0001701 Pericarditis
................... HP:0005132 Pericardial constriction
................... HP:0005183 Pericardial lymphangiectasia
................... HP:0011628 Congenital defect of the pericardium
................... HP:0100004 Pericardial mesothelioma

........

Abnormal cardiac ventricle morphology (HP:0001713)

................... HP:0001707 Abnormal right ventricle morphology
................... HP:0001711 Abnormal left ventricle morphology
................... HP:0001714 Ventricular hypertrophy
................... HP:0001750 Single ventricle
................... HP:0006690 Myocardial calcification
................... HP:0006693 Myocardial steatosis
................... HP:0006698 Dilatation of the ventricular cavity
................... HP:0010438 Abnormal ventricular septum morphology
................... HP:0100571 Cardiac diverticulum

........

Hypoplastic heart (HP:0001961)

................... HP:0004383 Hypoplastic left heart
................... HP:0010954 Hypoplastic right heart

........

Abnormal endocardium morphology (HP:0004306)

................... HP:0001706 Endocardial fibroelastosis
................... HP:0006685 Endocardial fibrosis
................... HP:0100584 Endocarditis

........

Abnormal anatomic location of the heart (HP:0004307)

................... HP:0001651 Dextrocardia
................... HP:0001683 Ectopia cordis
................... HP:0011599 Mesocardia
................... HP:0011600 Abnormal direction of ventricular apex

........

Abnormal cardiac atrium morphology (HP:0005120)

................... HP:0001631 Atrial septal defect
................... HP:0010774 Cor triatriatum
................... HP:0011535 Abnormal atrial arrangement
................... HP:0011565 Common atrium
................... HP:0011642 Abnormal coronary sinus morphology
................... HP:0025579 Abnormal left atrium morphology
................... HP:0025580 Abnormal right atrium morphology
................... HP:0031296 Atrial septal hypertrophy

........

Abnormal spatial orientation of the cardiac segments (HP:0011534)

................... HP:0001696 Situs inversus totalis
................... HP:0011535 Abnormal atrial arrangement
................... HP:0011540 Congenitally corrected transposition of the great arteries
................... HP:0011541 Criss-cross atrioventricular valves
................... HP:0011543 Superior-inferior ventricles without criss-cross atrioventricular valves
................... HP:0011544 L-looping of the right ventricle
................... HP:0031592 Situs inversus with levocardia

........

Abnormal connection of the cardiac segments (HP:0011545)

................... HP:0011546 Abnormal atrioventricular connection
................... HP:0011563 Abnormal ventriculo-arterial connection

........

Congenital malformation of the right heart (HP:0011723)

................... HP:0001719 Double outlet right ventricle
................... HP:0010954 Hypoplastic right heart
................... HP:0011724 Uhl's anomaly

........

Abnormal cardiomyocyte morphology (HP:0031331)

................... HP:0031319 Cardiomyocyte hypertrophy
................... HP:0031320 Cardiomyocyte mitochondrial proliferation
................... HP:0031332 Cardiomyocyte degeneration
................... HP:0031333 Myocardial sarcomeric disarray
................... HP:0031334 Cardiomyocyte inclusion bodies
................... HP:0031335 Abnormal cardiomyocyte mitochondrial morphology
................... HP:0031337 Abnormal cardiomyocyte connexin43 staining
................... HP:0031338 Abnormal cardiomyocyte plakoglobin staining
................... HP:0031339 Abnormal cadiomyocyte dystrophin staining

........

Congenital malformation of the left heart (HP:0045017)

................... HP:0004383 Hypoplastic left heart

........

Neoplasm of the heart (HP:0100544)

................... HP:0009729 Cardiac rhabdomyoma
................... HP:0010617 Cardiac fibroma
................... HP:0011672 Cardiac myxoma
................... HP:0011673 Cardiac hemangioma
................... HP:0011674 Cardiac teratoma
................... HP:0031350 Cardiac sarcoma
................... HP:0031351 Calcified amorphous tumor of the heart

Sister Nodes:

Abnormal vascular morphology (HP:0025015)

Cardiovascular calcification (HP:0011915)

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:0001627	HP:0001627	Abnormal heart morphology	0	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8			143
HP:0001627	HP:0001627	Abnormal heart morphology	0	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease			191
HP:0001627	HP:0001627	Abnormal heart morphology	0	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease			191
HP:0001627	HP:0001627	Abnormal heart morphology	0	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2			415
HP:0001627	HP:0001627	Abnormal heart morphology	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0001627	HP:0001627	Abnormal heart morphology	0	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum			415
HP:0001627	HP:0001627	Abnormal heart morphology	0	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste			415
HP:0001627	HP:0001627	Abnormal heart morphology	0	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			415
HP:0001627	HP:0001627	Abnormal heart morphology	0	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency			245
HP:0001627	HP:0001627	Abnormal heart morphology	0	ABCC8 CL E G H	6833	59	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		245
HP:0001627	HP:0001627	Abnormal heart morphology	0	ABCC8 CL E G H	6833	59	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional		245
HP:0001627	HP:0001627	Abnormal heart morphology	0	ABCC9 CL E G H	10060	60	OMIM:608569	CARDIOMYOPATHY, DILATED, 1O; CMD1O			254
HP:0001627	HP:0001627	Abnormal heart morphology	0	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy			254
HP:0001627	HP:0001627	Abnormal heart morphology	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0001627	HP:0001627	Abnormal heart morphology	0	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0001627	HP:0001627	Abnormal heart morphology	0	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0001627	HP:0001627	Abnormal heart morphology	0	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia			67
HP:0001627	HP:0001627	Abnormal heart morphology	0	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia			76
HP:0001627	HP:0001627	Abnormal heart morphology	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0001627	HP:0001627	Abnormal heart morphology	0	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome			51
HP:0001627	HP:0001627	Abnormal heart morphology	0	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency			58
HP:0001627	HP:0001627	Abnormal heart morphology	0	ACAD8 CL E G H	27034	87	OMIM:611283	Isobutyryl-CoA dehydrogenase deficiency			58
HP:0001627	HP:0001627	Abnormal heart morphology	0	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency			98
HP:0001627	HP:0001627	Abnormal heart morphology	0	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency			98
HP:0001627	HP:0001627	Abnormal heart morphology	0	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency			197
HP:0001627	HP:0001627	Abnormal heart morphology	0	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of			90
HP:0001627	HP:0001627	Abnormal heart morphology	0	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency			90
HP:0001627	HP:0001627	Abnormal heart morphology	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0001627	HP:0001627	Abnormal heart morphology	0	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0001627	HP:0001627	Abnormal heart morphology	0	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			19
HP:0001627	HP:0001627	Abnormal heart morphology	0	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0001627	HP:0001627	Abnormal heart morphology	0	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0001627	HP:0001627	Abnormal heart morphology	0	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			96
HP:0001627	HP:0001627	Abnormal heart morphology	0	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3			96
HP:0001627	HP:0001627	Abnormal heart morphology	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			94
HP:0001627	HP:0001627	Abnormal heart morphology	0	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome			94
HP:0001627	HP:0001627	Abnormal heart morphology	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0001627	HP:0001627	Abnormal heart morphology	0	ACTC1 CL E G H	70	143	OMIM:612794	Atrial septal defect 5			208
HP:0001627	HP:0001627	Abnormal heart morphology	0	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type			208
HP:0001627	HP:0001627	Abnormal heart morphology	0	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R			208
HP:0001627	HP:0001627	Abnormal heart morphology	0	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11			208
HP:0001627	HP:0001627	Abnormal heart morphology	0	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy			208
HP:0001627	HP:0001627	Abnormal heart morphology	0	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome			23
HP:0001627	HP:0001627	Abnormal heart morphology	0	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction			307
HP:0001627	HP:0001627	Abnormal heart morphology	0	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy			307
HP:0001627	HP:0001627	Abnormal heart morphology	0	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ			307
HP:0001627	HP:0001627	Abnormal heart morphology	0	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal			161
HP:0001627	HP:0001627	Abnormal heart morphology	0	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		22
HP:0001627	HP:0001627	Abnormal heart morphology	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome			22
HP:0001627	HP:0001627	Abnormal heart morphology	0	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0001627	HP:0001627	Abnormal heart morphology	0	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome			63
HP:0001627	HP:0001627	Abnormal heart morphology	0	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1			63
HP:0001627	HP:0001627	Abnormal heart morphology	0	ADAMTS19 CL E G H	171019	17111	OMIM:620067				1
HP:0001627	HP:0001627	Abnormal heart morphology	0	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0001627	HP:0001627	Abnormal heart morphology	0	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0001627	HP:0001627	Abnormal heart morphology	0	ADCY5 CL E G H	111	236	OMIM:619647	DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR			25
HP:0001627	HP:0001627	Abnormal heart morphology	0	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia			25
HP:0001627	HP:0001627	Abnormal heart morphology	0	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia			25
HP:0001627	HP:0001627	Abnormal heart morphology	0	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD			25
HP:0001627	HP:0001627	Abnormal heart morphology	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0001627	HP:0001627	Abnormal heart morphology	0	ADNP CL E G H	23394	15766	OMIM:615873	Helsmoortel-van der Aa syndrome	HP:0040283 - Occasional		47
HP:0001627	HP:0001627	Abnormal heart morphology	0	ADORA2A CL E G H	135	263	ORPHA:363549	Acute encephalopathy with biphasic seizures and late reduced diffusion			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0001627	HP:0001627	Abnormal heart morphology	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0001627	HP:0001627	Abnormal heart morphology	0	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0001627	HP:0001627	Abnormal heart morphology	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:0001627	HP:0001627	Abnormal heart morphology	0	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	AGK CL E G H	55750	21869	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome			82
HP:0001627	HP:0001627	Abnormal heart morphology	0	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome			82
HP:0001627	HP:0001627	Abnormal heart morphology	0	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III			216
HP:0001627	HP:0001627	Abnormal heart morphology	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0001627	HP:0001627	Abnormal heart morphology	0	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0001627	HP:0001627	Abnormal heart morphology	0	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0001627	HP:0001627	Abnormal heart morphology	0	AHCY CL E G H	191	343	OMIM:613752	HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY			31
HP:0001627	HP:0001627	Abnormal heart morphology	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency			31
HP:0001627	HP:0001627	Abnormal heart morphology	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome			175
HP:0001627	HP:0001627	Abnormal heart morphology	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3			175
HP:0001627	HP:0001627	Abnormal heart morphology	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect			175
HP:0001627	HP:0001627	Abnormal heart morphology	0	AIP CL E G H	9049	358	ORPHA:963	Acromegaly			95
HP:0001627	HP:0001627	Abnormal heart morphology	0	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1			95
HP:0001627	HP:0001627	Abnormal heart morphology	0	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism			95
HP:0001627	HP:0001627	Abnormal heart morphology	0	AKT3 CL E G H	10000	393	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome			19
HP:0001627	HP:0001627	Abnormal heart morphology	0	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0001627	HP:0001627	Abnormal heart morphology	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0001627	HP:0001627	Abnormal heart morphology	0	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG	HP:0040283 - Occasional		58
HP:0001627	HP:0001627	Abnormal heart morphology	0	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik			58
HP:0001627	HP:0001627	Abnormal heart morphology	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0001627	HP:0001627	Abnormal heart morphology	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0001627	HP:0001627	Abnormal heart morphology	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG			37
HP:0001627	HP:0001627	Abnormal heart morphology	0	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0001627	HP:0001627	Abnormal heart morphology	0	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	HP:0040284 - Very rare		46
HP:0001627	HP:0001627	Abnormal heart morphology	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040282 - Frequent		93
HP:0001627	HP:0001627	Abnormal heart morphology	0	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease			93
HP:0001627	HP:0001627	Abnormal heart morphology	0	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0001627	HP:0001627	Abnormal heart morphology	0	ALG9 CL E G H	79796	15672	OMIM:263210	Gillessen-Kaesbach-Nishimura syndrome			93
HP:0001627	HP:0001627	Abnormal heart morphology	0	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71
HP:0001627	HP:0001627	Abnormal heart morphology	0	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0001627	HP:0001627	Abnormal heart morphology	0	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0001627	HP:0001627	Abnormal heart morphology	0	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27			89
HP:0001627	HP:0001627	Abnormal heart morphology	0	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0001627	HP:0001627	Abnormal heart morphology	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0001627	HP:0001627	Abnormal heart morphology	0	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0001627	HP:0001627	Abnormal heart morphology	0	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0001627	HP:0001627	Abnormal heart morphology	0	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis			150
HP:0001627	HP:0001627	Abnormal heart morphology	0	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy			95
HP:0001627	HP:0001627	Abnormal heart morphology	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0001627	HP:0001627	Abnormal heart morphology	0	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome			102
HP:0001627	HP:0001627	Abnormal heart morphology	0	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16			32
HP:0001627	HP:0001627	Abnormal heart morphology	0	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12			304
HP:0001627	HP:0001627	Abnormal heart morphology	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001627	Abnormal heart morphology	0	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia			356
HP:0001627	HP:0001627	Abnormal heart morphology	0	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	ARF1 CL E G H	375	652	ORPHA:98892	Periventricular nodular heterotopia
HP:0001627	HP:0001627	Abnormal heart morphology	0	ARFGEF2 CL E G H	10564	15853	ORPHA:98892	Periventricular nodular heterotopia			179
HP:0001627	HP:0001627	Abnormal heart morphology	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0001627	HP:0001627	Abnormal heart morphology	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0001627	HP:0001627	Abnormal heart morphology	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		88
HP:0001627	HP:0001627	Abnormal heart morphology	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		219
HP:0001627	HP:0001627	Abnormal heart morphology	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0001627	HP:0001627	Abnormal heart morphology	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		25
HP:0001627	HP:0001627	Abnormal heart morphology	0	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0001627	HP:0001627	Abnormal heart morphology	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome			62
HP:0001627	HP:0001627	Abnormal heart morphology	0	ARL2BP CL E G H	23568	17146	OMIM:615434	Retinitis pigmentosa with or without situs inversus			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0001627	HP:0001627	Abnormal heart morphology	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0001627	HP:0001627	Abnormal heart morphology	0	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0001627	HP:0001627	Abnormal heart morphology	0	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0001627	HP:0001627	Abnormal heart morphology	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0001627	HP:0001627	Abnormal heart morphology	0	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia			166
HP:0001627	HP:0001627	Abnormal heart morphology	0	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0001627	HP:0001627	Abnormal heart morphology	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome			145
HP:0001627	HP:0001627	Abnormal heart morphology	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0001627	HP:0001627	Abnormal heart morphology	0	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	HP:0040284 - Very rare		16
HP:0001627	HP:0001627	Abnormal heart morphology	0	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive
HP:0001627	HP:0001627	Abnormal heart morphology	0	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0001627	HP:0001627	Abnormal heart morphology	0	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0001627	HP:0001627	Abnormal heart morphology	0	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0001627	HP:0001627	Abnormal heart morphology	0	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0001627	HP:0001627	Abnormal heart morphology	0	ATP5F1E CL E G H	514	838	OMIM:614053	Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
HP:0001627	HP:0001627	Abnormal heart morphology	0	ATP5MK CL E G H	84833	30889	OMIM:618683	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0001627	HP:0001627	Abnormal heart morphology	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia
HP:0001627	HP:0001627	Abnormal heart morphology	0	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type			36
HP:0001627	HP:0001627	Abnormal heart morphology	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0001627	HP:0001627	Abnormal heart morphology	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0001627	HP:0001627	Abnormal heart morphology	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0001627	HP:0001627	Abnormal heart morphology	0	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach			169
HP:0001627	HP:0001627	Abnormal heart morphology	0	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional		61
HP:0001627	HP:0001627	Abnormal heart morphology	0	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis			8
HP:0001627	HP:0001627	Abnormal heart morphology	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0001627	HP:0001627	Abnormal heart morphology	0	B3GALT6 CL E G H	126792	17978	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional		38
HP:0001627	HP:0001627	Abnormal heart morphology	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0001627	HP:0001627	Abnormal heart morphology	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:0001627	HP:0001627	Abnormal heart morphology	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0001627	HP:0001627	Abnormal heart morphology	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0001627	HP:0001627	Abnormal heart morphology	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome			28
HP:0001627	HP:0001627	Abnormal heart morphology	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome			28
HP:0001627	HP:0001627	Abnormal heart morphology	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome			34
HP:0001627	HP:0001627	Abnormal heart morphology	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome			34
HP:0001627	HP:0001627	Abnormal heart morphology	0	BAG3 CL E G H	9531	939	OMIM:613881	Cardiomyopathy, dilated, 1hh			204
HP:0001627	HP:0001627	Abnormal heart morphology	0	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy			204
HP:0001627	HP:0001627	Abnormal heart morphology	0	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6			204
HP:0001627	HP:0001627	Abnormal heart morphology	0	BAG5 CL E G H	9529	941	OMIM:619747	CARDIOMYOPATHY, DILATED, 2F; CMD2F
HP:0001627	HP:0001627	Abnormal heart morphology	0	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0001627	HP:0001627	Abnormal heart morphology	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0001627	HP:0001627	Abnormal heart morphology	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0001627	HP:0001627	Abnormal heart morphology	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0001627	HP:0001627	Abnormal heart morphology	0	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2			97
HP:0001627	HP:0001627	Abnormal heart morphology	0	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0001627	HP:0001627	Abnormal heart morphology	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0001627	HP:0001627	Abnormal heart morphology	0	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0001627	HP:0001627	Abnormal heart morphology	0	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0001627	HP:0001627	Abnormal heart morphology	0	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy			99
HP:0001627	HP:0001627	Abnormal heart morphology	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome			13
HP:0001627	HP:0001627	Abnormal heart morphology	0	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1			13
HP:0001627	HP:0001627	Abnormal heart morphology	0	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0001627	HP:0001627	Abnormal heart morphology	0	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0001627	HP:0001627	Abnormal heart morphology	0	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X			385
HP:0001627	HP:0001627	Abnormal heart morphology	0	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional		385
HP:0001627	HP:0001627	Abnormal heart morphology	0	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1			525
HP:0001627	HP:0001627	Abnormal heart morphology	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia			14
HP:0001627	HP:0001627	Abnormal heart morphology	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0001627	HP:0001627	Abnormal heart morphology	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0001627	HP:0001627	Abnormal heart morphology	0	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0001627	HP:0001627	Abnormal heart morphology	0	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0001627	HP:0001627	Abnormal heart morphology	0	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0001627	HP:0001627	Abnormal heart morphology	0	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0001627	HP:0001627	Abnormal heart morphology	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0001627	HP:0001627	Abnormal heart morphology	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0001627	HP:0001627	Abnormal heart morphology	0	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome			8
HP:0001627	HP:0001627	Abnormal heart morphology	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0001627	HP:0001627	Abnormal heart morphology	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0001627	HP:0001627	Abnormal heart morphology	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0001627	HP:0001627	Abnormal heart morphology	0	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0001627	HP:0001627	Abnormal heart morphology	0	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0001627	HP:0001627	Abnormal heart morphology	0	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked			109
HP:0001627	HP:0001627	Abnormal heart morphology	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0001627	HP:0001627	Abnormal heart morphology	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0001627	HP:0001627	Abnormal heart morphology	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0001627	HP:0001627	Abnormal heart morphology	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14			27
HP:0001627	HP:0001627	Abnormal heart morphology	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV			27
HP:0001627	HP:0001627	Abnormal heart morphology	0	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0001627	HP:0001627	Abnormal heart morphology	0	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome			572
HP:0001627	HP:0001627	Abnormal heart morphology	0	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities			51
HP:0001627	HP:0001627	Abnormal heart morphology	0	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome			51
HP:0001627	HP:0001627	Abnormal heart morphology	0	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia			247
HP:0001627	HP:0001627	Abnormal heart morphology	0	CALCRL CL E G H	10203	16709	OMIM:618773	LYMPHATIC MALFORMATION 8; LMPHM8			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15			13
HP:0001627	HP:0001627	Abnormal heart morphology	0	CALM3 CL E G H	808	1449	OMIM:618782	LONG QT SYNDROME 16; LQT16			16
HP:0001627	HP:0001627	Abnormal heart morphology	0	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0001627	HP:0001627	Abnormal heart morphology	0	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0001627	HP:0001627	Abnormal heart morphology	0	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0001627	HP:0001627	Abnormal heart morphology	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001627	HP:0001627	Abnormal heart morphology	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0001627	HP:0001627	Abnormal heart morphology	0	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy			118
HP:0001627	HP:0001627	Abnormal heart morphology	0	CASQ2 CL E G H	845	1513	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1			129
HP:0001627	HP:0001627	Abnormal heart morphology	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0001627	HP:0001627	Abnormal heart morphology	0	CAV3 CL E G H	859	1529	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			148
HP:0001627	HP:0001627	Abnormal heart morphology	0	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0001627	HP:0001627	Abnormal heart morphology	0	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0001627	HP:0001627	Abnormal heart morphology	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0001627	HP:0001627	Abnormal heart morphology	0	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0001627	HP:0001627	Abnormal heart morphology	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome			247
HP:0001627	HP:0001627	Abnormal heart morphology	0	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0001627	HP:0001627	Abnormal heart morphology	0	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0001627	HP:0001627	Abnormal heart morphology	0	CCDC103 CL E G H	388389	32700	OMIM:614679	Ciliary dyskinesia, primary, 17			36
HP:0001627	HP:0001627	Abnormal heart morphology	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		36
HP:0001627	HP:0001627	Abnormal heart morphology	0	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0001627	HP:0001627	Abnormal heart morphology	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2			33
HP:0001627	HP:0001627	Abnormal heart morphology	0	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14			126
HP:0001627	HP:0001627	Abnormal heart morphology	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		126
HP:0001627	HP:0001627	Abnormal heart morphology	0	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15			182
HP:0001627	HP:0001627	Abnormal heart morphology	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		182
HP:0001627	HP:0001627	Abnormal heart morphology	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		23
HP:0001627	HP:0001627	Abnormal heart morphology	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	CCND2 CL E G H	894	1583	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome			11
HP:0001627	HP:0001627	Abnormal heart morphology	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		23
HP:0001627	HP:0001627	Abnormal heart morphology	0	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome			7
HP:0001627	HP:0001627	Abnormal heart morphology	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations			7
HP:0001627	HP:0001627	Abnormal heart morphology	0	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0001627	HP:0001627	Abnormal heart morphology	0	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome			83
HP:0001627	HP:0001627	Abnormal heart morphology	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040282 - Frequent		6
HP:0001627	HP:0001627	Abnormal heart morphology	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome			6
HP:0001627	HP:0001627	Abnormal heart morphology	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001627	HP:0001627	Abnormal heart morphology	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0001627	HP:0001627	Abnormal heart morphology	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0001627	HP:0001627	Abnormal heart morphology	0	CDH2 CL E G H	1000	1759	OMIM:618920	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14
HP:0001627	HP:0001627	Abnormal heart morphology	0	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0001627	HP:0001627	Abnormal heart morphology	0	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0001627	HP:0001627	Abnormal heart morphology	0	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0001627	HP:0001627	Abnormal heart morphology	0	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy			405
HP:0001627	HP:0001627	Abnormal heart morphology	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0001627	HP:0001627	Abnormal heart morphology	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0001627	HP:0001627	Abnormal heart morphology	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0001627	HP:0001627	Abnormal heart morphology	0	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly			200
HP:0001627	HP:0001627	Abnormal heart morphology	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		200
HP:0001627	HP:0001627	Abnormal heart morphology	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0001627	HP:0001627	Abnormal heart morphology	0	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive			20
HP:0001627	HP:0001627	Abnormal heart morphology	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome			7
HP:0001627	HP:0001627	Abnormal heart morphology	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect			7
HP:0001627	HP:0001627	Abnormal heart morphology	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome			342
HP:0001627	HP:0001627	Abnormal heart morphology	0	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4			342
HP:0001627	HP:0001627	Abnormal heart morphology	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome			90
HP:0001627	HP:0001627	Abnormal heart morphology	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect			90
HP:0001627	HP:0001627	Abnormal heart morphology	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0001627	HP:0001627	Abnormal heart morphology	0	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0001627	HP:0001627	Abnormal heart morphology	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001627	Abnormal heart morphology	0	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0001627	HP:0001627	Abnormal heart morphology	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001627	Abnormal heart morphology	0	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38
HP:0001627	HP:0001627	Abnormal heart morphology	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001627	Abnormal heart morphology	0	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0001627	HP:0001627	Abnormal heart morphology	0	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0001627	HP:0001627	Abnormal heart morphology	0	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal			17
HP:0001627	HP:0001627	Abnormal heart morphology	0	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal			13
HP:0001627	HP:0001627	Abnormal heart morphology	0	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0001627	HP:0001627	Abnormal heart morphology	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0001627	HP:0001627	Abnormal heart morphology	0	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0001627	HP:0001627	Abnormal heart morphology	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0001627	HP:0001627	Abnormal heart morphology	0	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type			53
HP:0001627	HP:0001627	Abnormal heart morphology	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0001627	HP:0001627	Abnormal heart morphology	0	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	CHRM3 CL E G H	1131	1952	OMIM:100100	Prune belly syndrome	.		4
HP:0001627	HP:0001627	Abnormal heart morphology	0	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type			74
HP:0001627	HP:0001627	Abnormal heart morphology	0	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type			88
HP:0001627	HP:0001627	Abnormal heart morphology	0	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0001627	HP:0001627	Abnormal heart morphology	0	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type			68
HP:0001627	HP:0001627	Abnormal heart morphology	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0001627	HP:0001627	Abnormal heart morphology	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040283 - Occasional		27
HP:0001627	HP:0001627	Abnormal heart morphology	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:0001627	HP:0001627	Abnormal heart morphology	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0001627	HP:0001627	Abnormal heart morphology	0	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0001627	Abnormal heart morphology	0	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	CITED2 CL E G H	10370	1987	OMIM:614433	ATRIAL SEPTAL DEFECT 8; ASD8			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	CITED2 CL E G H	10370	1987	OMIM:614431	Ventricular septal defect 2			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome			7
HP:0001627	HP:0001627	Abnormal heart morphology	0	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome			7
HP:0001627	HP:0001627	Abnormal heart morphology	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0001627	HP:0001627	Abnormal heart morphology	0	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0001627	HP:0001627	Abnormal heart morphology	0	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3			216
HP:0001627	HP:0001627	Abnormal heart morphology	0	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0001627	HP:0001627	Abnormal heart morphology	0	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7			38
HP:0001627	HP:0001627	Abnormal heart morphology	0	COA5 CL E G H	493753	33848	OMIM:616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4			8
HP:0001627	HP:0001627	Abnormal heart morphology	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0001627	HP:0001627	Abnormal heart morphology	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0001627	HP:0001627	Abnormal heart morphology	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0001627	HP:0001627	Abnormal heart morphology	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0001627	HP:0001627	Abnormal heart morphology	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG			64
HP:0001627	HP:0001627	Abnormal heart morphology	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.		64
HP:0001627	HP:0001627	Abnormal heart morphology	0	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0001627	HP:0001627	Abnormal heart morphology	0	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome			177
HP:0001627	HP:0001627	Abnormal heart morphology	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0001627	HP:0001627	Abnormal heart morphology	0	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1			373
HP:0001627	HP:0001627	Abnormal heart morphology	0	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I			373
HP:0001627	HP:0001627	Abnormal heart morphology	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0001627	HP:0001627	Abnormal heart morphology	0	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form			243
HP:0001627	HP:0001627	Abnormal heart morphology	0	COL25A1 CL E G H	84570	18603	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional		3
HP:0001627	HP:0001627	Abnormal heart morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1			284
HP:0001627	HP:0001627	Abnormal heart morphology	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0001627	HP:0001627	Abnormal heart morphology	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0001627	HP:0001627	Abnormal heart morphology	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0001627	HP:0001627	Abnormal heart morphology	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0001627	HP:0001627	Abnormal heart morphology	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0001627	HP:0001627	Abnormal heart morphology	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0001627	HP:0001627	Abnormal heart morphology	0	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form			263
HP:0001627	HP:0001627	Abnormal heart morphology	0	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0001627	HP:0001627	Abnormal heart morphology	0	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes			90
HP:0001627	HP:0001627	Abnormal heart morphology	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0001627	HP:0001627	Abnormal heart morphology	0	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1			54
HP:0001627	HP:0001627	Abnormal heart morphology	0	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0001627	HP:0001627	Abnormal heart morphology	0	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7			24
HP:0001627	HP:0001627	Abnormal heart morphology	0	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5			44
HP:0001627	HP:0001627	Abnormal heart morphology	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0001627	HP:0001627	Abnormal heart morphology	0	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001627	Abnormal heart morphology	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0001627	HP:0001627	Abnormal heart morphology	0	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0001627	HP:0001627	Abnormal heart morphology	0	COX15 CL E G H	1355	2263	OMIM:615119	Mitochondrial complex IV deficiency, nuclear type 6			104
HP:0001627	HP:0001627	Abnormal heart morphology	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0001627	HP:0001627	Abnormal heart morphology	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0001627	HP:0001627	Abnormal heart morphology	0	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001627	Abnormal heart morphology	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0001627	HP:0001627	Abnormal heart morphology	0	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001627	Abnormal heart morphology	0	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0001627	HP:0001627	Abnormal heart morphology	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0001627	HP:0001627	Abnormal heart morphology	0	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0001627	HP:0001627	Abnormal heart morphology	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0001627	HP:0001627	Abnormal heart morphology	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7			6
HP:0001627	HP:0001627	Abnormal heart morphology	0	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0001627	HP:0001627	Abnormal heart morphology	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0001627	HP:0001627	Abnormal heart morphology	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0001627	HP:0001627	Abnormal heart morphology	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency			99
HP:0001627	HP:0001627	Abnormal heart morphology	0	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency			99
HP:0001627	HP:0001627	Abnormal heart morphology	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form			101
HP:0001627	HP:0001627	Abnormal heart morphology	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form			101
HP:0001627	HP:0001627	Abnormal heart morphology	0	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile			101
HP:0001627	HP:0001627	Abnormal heart morphology	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0001627	HP:0001627	Abnormal heart morphology	0	CRB2 CL E G H	286204	18688	OMIM:219730	Ventriculomegaly with cystic kidney disease			12
HP:0001627	HP:0001627	Abnormal heart morphology	0	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001627	HP:0001627	Abnormal heart morphology	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040282 - Frequent		291
HP:0001627	HP:0001627	Abnormal heart morphology	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040282 - Frequent		291
HP:0001627	HP:0001627	Abnormal heart morphology	0	CRELD1 CL E G H	78987	14630	OMIM:606217	Atrioventricular septal defect, susceptibility to, 2			19
HP:0001627	HP:0001627	Abnormal heart morphology	0	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy			46
HP:0001627	HP:0001627	Abnormal heart morphology	0	CRYAB CL E G H	1410	2389	OMIM:615184	Cardiomyopathy, dilated, 1ii			46
HP:0001627	HP:0001627	Abnormal heart morphology	0	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy			46
HP:0001627	HP:0001627	Abnormal heart morphology	0	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2			46
HP:0001627	HP:0001627	Abnormal heart morphology	0	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001627	HP:0001627	Abnormal heart morphology	0	CSNK2A1 CL E G H	1457	2457	OMIM:617062	Okur-Chung neurodevelopmental syndrome	HP:0040284 - Very rare		12
HP:0001627	HP:0001627	Abnormal heart morphology	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome			57
HP:0001627	HP:0001627	Abnormal heart morphology	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome			57
HP:0001627	HP:0001627	Abnormal heart morphology	0	CSRP3 CL E G H	8048	2472	OMIM:607482	CARDIOMYOPATHY, DILATED, 1M; CMD1M			104
HP:0001627	HP:0001627	Abnormal heart morphology	0	CSRP3 CL E G H	8048	2472	OMIM:612124	Cardiomyopathy, familial hypertrophic, 12			104
HP:0001627	HP:0001627	Abnormal heart morphology	0	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy			104
HP:0001627	HP:0001627	Abnormal heart morphology	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0001627	HP:0001627	Abnormal heart morphology	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0001627	HP:0001627	Abnormal heart morphology	0	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis			10
HP:0001627	HP:0001627	Abnormal heart morphology	0	CTLA4 CL E G H	1493	2505	OMIM:152700	Systemic lupus erythematosus			10
HP:0001627	HP:0001627	Abnormal heart morphology	0	CTNNA3 CL E G H	29119	2511	OMIM:615616	Arrhythmogenic right ventricular dysplasia, familial, 13			98
HP:0001627	HP:0001627	Abnormal heart morphology	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS			92
HP:0001627	HP:0001627	Abnormal heart morphology	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome			9
HP:0001627	HP:0001627	Abnormal heart morphology	0	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0001627	HP:0001627	Abnormal heart morphology	0	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy
HP:0001627	HP:0001627	Abnormal heart morphology	0	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001627	Abnormal heart morphology	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1			102
HP:0001627	HP:0001627	Abnormal heart morphology	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0001627	HP:0001627	Abnormal heart morphology	0	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional		27
HP:0001627	HP:0001627	Abnormal heart morphology	0	DCHS1 CL E G H	8642	13681	OMIM:607829	Mitral valve prolapse, myxomatous 2			27
HP:0001627	HP:0001627	Abnormal heart morphology	0	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome			13
HP:0001627	HP:0001627	Abnormal heart morphology	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102			57
HP:0001627	HP:0001627	Abnormal heart morphology	0	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001627	HP:0001627	Abnormal heart morphology	0	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001627	HP:0001627	Abnormal heart morphology	0	DES CL E G H	1674	2770	OMIM:604765	CARDIOMYOPATHY, DILATED, 1I; CMD1I			263
HP:0001627	HP:0001627	Abnormal heart morphology	0	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy			263
HP:0001627	HP:0001627	Abnormal heart morphology	0	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy			263
HP:0001627	HP:0001627	Abnormal heart morphology	0	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1			263
HP:0001627	HP:0001627	Abnormal heart morphology	0	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0001627	HP:0001627	Abnormal heart morphology	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0001627	HP:0001627	Abnormal heart morphology	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0001627	HP:0001627	Abnormal heart morphology	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0001627	HP:0001627	Abnormal heart morphology	0	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly			22
HP:0001627	HP:0001627	Abnormal heart morphology	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		22
HP:0001627	HP:0001627	Abnormal heart morphology	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0001627	HP:0001627	Abnormal heart morphology	0	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency			89
HP:0001627	HP:0001627	Abnormal heart morphology	0	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency			89
HP:0001627	HP:0001627	Abnormal heart morphology	0	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional		1
HP:0001627	HP:0001627	Abnormal heart morphology	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	DLK1 CL E G H	8788	2907	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0001627	HP:0001627	Abnormal heart morphology	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0001627	HP:0001627	Abnormal heart morphology	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0001627	HP:0001627	Abnormal heart morphology	0	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		3
HP:0001627	HP:0001627	Abnormal heart morphology	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0001627	HP:0001627	Abnormal heart morphology	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0001627	HP:0001627	Abnormal heart morphology	0	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6			9
HP:0001627	HP:0001627	Abnormal heart morphology	0	DMD CL E G H	1756	2928	OMIM:302045	Cardiomyopathy, dilated, 3B			1496
HP:0001627	HP:0001627	Abnormal heart morphology	0	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy			1496
HP:0001627	HP:0001627	Abnormal heart morphology	0	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0001627	HP:0001627	Abnormal heart morphology	0	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy			1496
HP:0001627	HP:0001627	Abnormal heart morphology	0	DMD CL E G H	1756	2928	OMIM:300376	Muscular dystrophy, Becker type			1496
HP:0001627	HP:0001627	Abnormal heart morphology	0	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0001627	HP:0001627	Abnormal heart morphology	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0001627	HP:0001627	Abnormal heart morphology	0	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13			116
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		116
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10			78
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		78
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2			63
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		63
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25			27
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		27
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18			62
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		62
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAAF6 CL E G H	139212	28570	OMIM:300991	Ciliary dyskinesia, primary, 36, X-linked
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAH1 CL E G H	25981	2940	OMIM:617577	Ciliary dyskinesia, primary, 37			21
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		21
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7			542
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		542
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3			527
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		527
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40	HP:0040284 - Very rare		18
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		18
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1			73
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		73
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9			104
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		104
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		2
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V			25
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAJC21 CL E G H	134218	27030	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional		5
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16			167
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		167
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNASE1 CL E G H	1773	2956	OMIM:152700	Systemic lupus erythematosus			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome			44
HP:0001627	HP:0001627	Abnormal heart morphology	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0001627	HP:0001627	Abnormal heart morphology	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0001627	HP:0001627	Abnormal heart morphology	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001627	HP:0001627	Abnormal heart morphology	0	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im			55
HP:0001627	HP:0001627	Abnormal heart morphology	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0001627	HP:0001627	Abnormal heart morphology	0	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy			55
HP:0001627	HP:0001627	Abnormal heart morphology	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0001627	HP:0001627	Abnormal heart morphology	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	HP:0040284 - Very rare
HP:0001627	HP:0001627	Abnormal heart morphology	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0001627	HP:0001627	Abnormal heart morphology	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001627	HP:0001627	Abnormal heart morphology	0	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG			9
HP:0001627	HP:0001627	Abnormal heart morphology	0	DPM3 CL E G H	54344	3007	OMIM:612937	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15			9
HP:0001627	HP:0001627	Abnormal heart morphology	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		44
HP:0001627	HP:0001627	Abnormal heart morphology	0	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11			268
HP:0001627	HP:0001627	Abnormal heart morphology	0	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2			13
HP:0001627	HP:0001627	Abnormal heart morphology	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040283 - Occasional		13
HP:0001627	HP:0001627	Abnormal heart morphology	0	DSG1 CL E G H	1828	3048	OMIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige			16
HP:0001627	HP:0001627	Abnormal heart morphology	0	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10			358
HP:0001627	HP:0001627	Abnormal heart morphology	0	DSG2 CL E G H	1829	3049	OMIM:612877	CARDIOMYOPATHY, DILATED, 1BB; CMD1BB			358
HP:0001627	HP:0001627	Abnormal heart morphology	0	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy			358
HP:0001627	HP:0001627	Abnormal heart morphology	0	DSP CL E G H	1832	3052	OMIM:607450	Arrhythmogenic right ventricular dysplasia, familial, 8			747
HP:0001627	HP:0001627	Abnormal heart morphology	0	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma			747
HP:0001627	HP:0001627	Abnormal heart morphology	0	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis			747
HP:0001627	HP:0001627	Abnormal heart morphology	0	DSP CL E G H	1832	3052	ORPHA:65282	Carvajal syndrome			747
HP:0001627	HP:0001627	Abnormal heart morphology	0	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy			747
HP:0001627	HP:0001627	Abnormal heart morphology	0	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0001627	HP:0001627	Abnormal heart morphology	0	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0001627	HP:0001627	Abnormal heart morphology	0	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1			163
HP:0001627	HP:0001627	Abnormal heart morphology	0	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI
HP:0001627	HP:0001627	Abnormal heart morphology	0	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome			7
HP:0001627	HP:0001627	Abnormal heart morphology	0	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0001627	HP:0001627	Abnormal heart morphology	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040284 - Very rare		134
HP:0001627	HP:0001627	Abnormal heart morphology	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0001627	HP:0001627	Abnormal heart morphology	0	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2			600
HP:0001627	HP:0001627	Abnormal heart morphology	0	DZIP1 CL E G H	22873	20908	OMIM:610840	MITRAL VALVE PROLAPSE 3; MVP3
HP:0001627	HP:0001627	Abnormal heart morphology	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040283 - Occasional		51
HP:0001627	HP:0001627	Abnormal heart morphology	0	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction			13
HP:0001627	HP:0001627	Abnormal heart morphology	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0001627	HP:0001627	Abnormal heart morphology	0	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0001627	HP:0001627	Abnormal heart morphology	0	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1			45
HP:0001627	HP:0001627	Abnormal heart morphology	0	EFL1 CL E G H	79631	25789	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001627	Abnormal heart morphology	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0001627	HP:0001627	Abnormal heart morphology	0	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0001627	HP:0001627	Abnormal heart morphology	0	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease			257
HP:0001627	HP:0001627	Abnormal heart morphology	0	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0001627	HP:0001627	Abnormal heart morphology	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion			223
HP:0001627	HP:0001627	Abnormal heart morphology	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040282 - Frequent		223
HP:0001627	HP:0001627	Abnormal heart morphology	0	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0001627	HP:0001627	Abnormal heart morphology	0	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis			40
HP:0001627	HP:0001627	Abnormal heart morphology	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	ELAC2 CL E G H	60528	14198	OMIM:615440	Combined oxidative phosphorylation deficiency 17			67
HP:0001627	HP:0001627	Abnormal heart morphology	0	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0001627	HP:0001627	Abnormal heart morphology	0	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1			172
HP:0001627	HP:0001627	Abnormal heart morphology	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			172
HP:0001627	HP:0001627	Abnormal heart morphology	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0001627	HP:0001627	Abnormal heart morphology	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0001627	HP:0001627	Abnormal heart morphology	0	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0001627	HP:0001627	Abnormal heart morphology	0	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1			151
HP:0001627	HP:0001627	Abnormal heart morphology	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0001627	HP:0001627	Abnormal heart morphology	0	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum			151
HP:0001627	HP:0001627	Abnormal heart morphology	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001627	HP:0001627	Abnormal heart morphology	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040282 - Frequent		250
HP:0001627	HP:0001627	Abnormal heart morphology	0	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis			51
HP:0001627	HP:0001627	Abnormal heart morphology	0	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome			170
HP:0001627	HP:0001627	Abnormal heart morphology	0	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome			40
HP:0001627	HP:0001627	Abnormal heart morphology	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0001627	HP:0001627	Abnormal heart morphology	0	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040284 - Very rare		3
HP:0001627	HP:0001627	Abnormal heart morphology	0	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2			12
HP:0001627	HP:0001627	Abnormal heart morphology	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0001627	HP:0001627	Abnormal heart morphology	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0001627	HP:0001627	Abnormal heart morphology	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0001627	HP:0001627	Abnormal heart morphology	0	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q			158
HP:0001627	HP:0001627	Abnormal heart morphology	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0001627	HP:0001627	Abnormal heart morphology	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0001627	HP:0001627	Abnormal heart morphology	0	ERGIC1 CL E G H	57222	29205	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0001627	HP:0001627	Abnormal heart morphology	0	ERMARD CL E G H	55780	21056	ORPHA:98892	Periventricular nodular heterotopia			36
HP:0001627	HP:0001627	Abnormal heart morphology	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0001627	HP:0001627	Abnormal heart morphology	0	ESPN CL E G H	83715	13281	OMIM:618632	USHER SYNDROME, TYPE 1M; USH1M			33
HP:0001627	HP:0001627	Abnormal heart morphology	0	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome			209
HP:0001627	HP:0001627	Abnormal heart morphology	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome			209
HP:0001627	HP:0001627	Abnormal heart morphology	0	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome			137
HP:0001627	HP:0001627	Abnormal heart morphology	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome			137
HP:0001627	HP:0001627	Abnormal heart morphology	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	EXOC6B CL E G H	23233	17085	ORPHA:93359	Spondyloepimetaphyseal dysplasia with joint laxity	HP:0040283 - Occasional		3
HP:0001627	HP:0001627	Abnormal heart morphology	0	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome			102
HP:0001627	HP:0001627	Abnormal heart morphology	0	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome			102
HP:0001627	HP:0001627	Abnormal heart morphology	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	EYA4 CL E G H	2070	3522	OMIM:605362	Cardiomyopathy, dilated, 1J			111
HP:0001627	HP:0001627	Abnormal heart morphology	0	EYA4 CL E G H	2070	3522	ORPHA:217622	Sensorineural deafness with dilated cardiomyopathy			111
HP:0001627	HP:0001627	Abnormal heart morphology	0	FADD CL E G H	8772	3573	ORPHA:306550	FADD-related immunodeficiency			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0001627	HP:0001627	Abnormal heart morphology	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0001627	HP:0001627	Abnormal heart morphology	0	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome			15
HP:0001627	HP:0001627	Abnormal heart morphology	0	FANCA CL E G H	2175	3582	OMIM:227650	Fanconi anemia	.		340
HP:0001627	HP:0001627	Abnormal heart morphology	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0001627	HP:0001627	Abnormal heart morphology	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0001627	HP:0001627	Abnormal heart morphology	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0001627	HP:0001627	Abnormal heart morphology	0	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked			58
HP:0001627	HP:0001627	Abnormal heart morphology	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0001627	HP:0001627	Abnormal heart morphology	0	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0001627	HP:0001627	Abnormal heart morphology	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0001627	HP:0001627	Abnormal heart morphology	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2	.		147
HP:0001627	HP:0001627	Abnormal heart morphology	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0001627	HP:0001627	Abnormal heart morphology	0	FANCE CL E G H	2178	3586	OMIM:600901	Fanconi anemia, complementation group E	.		73
HP:0001627	HP:0001627	Abnormal heart morphology	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0001627	HP:0001627	Abnormal heart morphology	0	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001627	HP:0001627	Abnormal heart morphology	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0001627	HP:0001627	Abnormal heart morphology	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0001627	HP:0001627	Abnormal heart morphology	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I			157
HP:0001627	HP:0001627	Abnormal heart morphology	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0001627	HP:0001627	Abnormal heart morphology	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0001627	HP:0001627	Abnormal heart morphology	0	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0001627	HP:0001627	Abnormal heart morphology	0	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44			122
HP:0001627	HP:0001627	Abnormal heart morphology	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional		114
HP:0001627	HP:0001627	Abnormal heart morphology	0	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0001627	HP:0001627	Abnormal heart morphology	0	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0001627	HP:0001627	Abnormal heart morphology	0	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0001627	HP:0001627	Abnormal heart morphology	0	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1			63
HP:0001627	HP:0001627	Abnormal heart morphology	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			1361
HP:0001627	HP:0001627	Abnormal heart morphology	0	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2			1361
HP:0001627	HP:0001627	Abnormal heart morphology	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0001627	HP:0001627	Abnormal heart morphology	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0001627	HP:0001627	Abnormal heart morphology	0	FBN1 CL E G H	2200	3603	OMIM:604308	MASS SYNDROME			1361
HP:0001627	HP:0001627	Abnormal heart morphology	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome			1361
HP:0001627	HP:0001627	Abnormal heart morphology	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0001627	HP:0001627	Abnormal heart morphology	0	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS			1361
HP:0001627	HP:0001627	Abnormal heart morphology	0	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome			1361
HP:0001627	HP:0001627	Abnormal heart morphology	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0001627	HP:0001627	Abnormal heart morphology	0	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly			655
HP:0001627	HP:0001627	Abnormal heart morphology	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0001627	HP:0001627	Abnormal heart morphology	0	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)			384
HP:0001627	HP:0001627	Abnormal heart morphology	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0001627	HP:0001627	Abnormal heart morphology	0	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0001627	HP:0001627	Abnormal heart morphology	0	FCGR2A CL E G H	2212	3616	OMIM:152700	Systemic lupus erythematosus			6
HP:0001627	HP:0001627	Abnormal heart morphology	0	FCGR2B CL E G H	2213	3618	OMIM:152700	Systemic lupus erythematosus			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0001627	HP:0001627	Abnormal heart morphology	0	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0001627	HP:0001627	Abnormal heart morphology	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0001627	HP:0001627	Abnormal heart morphology	0	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly			17
HP:0001627	HP:0001627	Abnormal heart morphology	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		17
HP:0001627	HP:0001627	Abnormal heart morphology	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0001627	HP:0001627	Abnormal heart morphology	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis			172
HP:0001627	HP:0001627	Abnormal heart morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis			172
HP:0001627	HP:0001627	Abnormal heart morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		172
HP:0001627	HP:0001627	Abnormal heart morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly			172
HP:0001627	HP:0001627	Abnormal heart morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		172
HP:0001627	HP:0001627	Abnormal heart morphology	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			175
HP:0001627	HP:0001627	Abnormal heart morphology	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome			175
HP:0001627	HP:0001627	Abnormal heart morphology	0	FGFR2 CL E G H	2263	3689	OMIM:101400	Saethre-Chotzen syndrome	.		175
HP:0001627	HP:0001627	Abnormal heart morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1			145
HP:0001627	HP:0001627	Abnormal heart morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2			145
HP:0001627	HP:0001627	Abnormal heart morphology	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset			68
HP:0001627	HP:0001627	Abnormal heart morphology	0	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy			68
HP:0001627	HP:0001627	Abnormal heart morphology	0	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome			68
HP:0001627	HP:0001627	Abnormal heart morphology	0	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0001627	HP:0001627	Abnormal heart morphology	0	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy			36
HP:0001627	HP:0001627	Abnormal heart morphology	0	FHOD3 CL E G H	80206	26178	OMIM:619402	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0001627	HP:0001627	Abnormal heart morphology	0	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0001627	HP:0001627	Abnormal heart morphology	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001627	HP:0001627	Abnormal heart morphology	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			157
HP:0001627	HP:0001627	Abnormal heart morphology	0	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9			157
HP:0001627	HP:0001627	Abnormal heart morphology	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5			157
HP:0001627	HP:0001627	Abnormal heart morphology	0	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5			157
HP:0001627	HP:0001627	Abnormal heart morphology	0	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X			184
HP:0001627	HP:0001627	Abnormal heart morphology	0	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type			184
HP:0001627	HP:0001627	Abnormal heart morphology	0	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy			184
HP:0001627	HP:0001627	Abnormal heart morphology	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4			184
HP:0001627	HP:0001627	Abnormal heart morphology	0	FLAD1 CL E G H	80308	24671	OMIM:255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency			18
HP:0001627	HP:0001627	Abnormal heart morphology	0	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0001627	HP:0001627	Abnormal heart morphology	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0001627	HP:0001627	Abnormal heart morphology	0	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked			493
HP:0001627	HP:0001627	Abnormal heart morphology	0	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia			493
HP:0001627	HP:0001627	Abnormal heart morphology	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		493
HP:0001627	HP:0001627	Abnormal heart morphology	0	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0001627	HP:0001627	Abnormal heart morphology	0	FLNA CL E G H	2316	3754	OMIM:300049	Heterotopia, periventricular, X-linked dominant			493
HP:0001627	HP:0001627	Abnormal heart morphology	0	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome			493
HP:0001627	HP:0001627	Abnormal heart morphology	0	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0001627	HP:0001627	Abnormal heart morphology	0	FLNA CL E G H	2316	3754	ORPHA:99811	Neuronal intestinal pseudoobstruction			493
HP:0001627	HP:0001627	Abnormal heart morphology	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0001627	HP:0001627	Abnormal heart morphology	0	FLNA CL E G H	2316	3754	ORPHA:98892	Periventricular nodular heterotopia			493
HP:0001627	HP:0001627	Abnormal heart morphology	0	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0001627	HP:0001627	Abnormal heart morphology	0	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome			233
HP:0001627	HP:0001627	Abnormal heart morphology	0	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26			197
HP:0001627	HP:0001627	Abnormal heart morphology	0	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement			197
HP:0001627	HP:0001627	Abnormal heart morphology	0	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy			197
HP:0001627	HP:0001627	Abnormal heart morphology	0	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4			197
HP:0001627	HP:0001627	Abnormal heart morphology	0	FLT4 CL E G H	2324	3767	OMIM:618780	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7			90
HP:0001627	HP:0001627	Abnormal heart morphology	0	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot			90
HP:0001627	HP:0001627	Abnormal heart morphology	0	FMN2 CL E G H	56776	14074	OMIM:616193	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47			44
HP:0001627	HP:0001627	Abnormal heart morphology	0	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome			30
HP:0001627	HP:0001627	Abnormal heart morphology	0	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome			30
HP:0001627	HP:0001627	Abnormal heart morphology	0	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers			30
HP:0001627	HP:0001627	Abnormal heart morphology	0	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0001627	HP:0001627	Abnormal heart morphology	0	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0001627	HP:0001627	Abnormal heart morphology	0	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3			63
HP:0001627	HP:0001627	Abnormal heart morphology	0	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0001627	HP:0001627	Abnormal heart morphology	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			23
HP:0001627	HP:0001627	Abnormal heart morphology	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0001627	Abnormal heart morphology	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0001627	HP:0001627	Abnormal heart morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0001627	HP:0001627	Abnormal heart morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0001627	HP:0001627	Abnormal heart morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly			48
HP:0001627	HP:0001627	Abnormal heart morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		48
HP:0001627	HP:0001627	Abnormal heart morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0001627	HP:0001627	Abnormal heart morphology	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001627	Abnormal heart morphology	0	FOXP1 CL E G H	27086	3823	ORPHA:391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	HP:0040282 - Frequent		184
HP:0001627	HP:0001627	Abnormal heart morphology	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0001627	HP:0001627	Abnormal heart morphology	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0001627	HP:0001627	Abnormal heart morphology	0	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19			61
HP:0001627	HP:0001627	Abnormal heart morphology	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.		353
HP:0001627	HP:0001627	Abnormal heart morphology	0	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies			198
HP:0001627	HP:0001627	Abnormal heart morphology	0	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0001627	HP:0001627	Abnormal heart morphology	0	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria			65
HP:0001627	HP:0001627	Abnormal heart morphology	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath			70
HP:0001627	HP:0001627	Abnormal heart morphology	0	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS			43
HP:0001627	HP:0001627	Abnormal heart morphology	0	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis			43
HP:0001627	HP:0001627	Abnormal heart morphology	0	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia			18
HP:0001627	HP:0001627	Abnormal heart morphology	0	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1			18
HP:0001627	HP:0001627	Abnormal heart morphology	0	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0001627	HP:0001627	Abnormal heart morphology	0	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset			407
HP:0001627	HP:0001627	Abnormal heart morphology	0	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II			407
HP:0001627	HP:0001627	Abnormal heart morphology	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0001627	HP:0001627	Abnormal heart morphology	0	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A			123
HP:0001627	HP:0001627	Abnormal heart morphology	0	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease			6
HP:0001627	HP:0001627	Abnormal heart morphology	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0001627	HP:0001627	Abnormal heart morphology	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0001627	HP:0001627	Abnormal heart morphology	0	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		2
HP:0001627	HP:0001627	Abnormal heart morphology	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0001627	HP:0001627	Abnormal heart morphology	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		1
HP:0001627	HP:0001627	Abnormal heart morphology	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		9
HP:0001627	HP:0001627	Abnormal heart morphology	0	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		29
HP:0001627	HP:0001627	Abnormal heart morphology	0	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001627	HP:0001627	Abnormal heart morphology	0	GATA3 CL E G H	2625	4172	ORPHA:2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	HP:0040284 - Very rare		83
HP:0001627	HP:0001627	Abnormal heart morphology	0	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0001627	HP:0001627	Abnormal heart morphology	0	GATA4 CL E G H	2626	4173	OMIM:607941	Atrial septal defect 2			87
HP:0001627	HP:0001627	Abnormal heart morphology	0	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type			87
HP:0001627	HP:0001627	Abnormal heart morphology	0	GATA4 CL E G H	2626	4173	OMIM:614430	Atrioventricular septal defect 4			87
HP:0001627	HP:0001627	Abnormal heart morphology	0	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease			87
HP:0001627	HP:0001627	Abnormal heart morphology	0	GATA4 CL E G H	2626	4173	OMIM:187500	Tetralogy of Fallot			87
HP:0001627	HP:0001627	Abnormal heart morphology	0	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot			87
HP:0001627	HP:0001627	Abnormal heart morphology	0	GATA4 CL E G H	2626	4173	OMIM:614429	Ventricular septal defect 1			87
HP:0001627	HP:0001627	Abnormal heart morphology	0	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5			10
HP:0001627	HP:0001627	Abnormal heart morphology	0	GATA5 CL E G H	140628	15802	ORPHA:402075	Familial bicuspid aortic valve			10
HP:0001627	HP:0001627	Abnormal heart morphology	0	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot			10
HP:0001627	HP:0001627	Abnormal heart morphology	0	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9			37
HP:0001627	HP:0001627	Abnormal heart morphology	0	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type			37
HP:0001627	HP:0001627	Abnormal heart morphology	0	GATA6 CL E G H	2627	4174	OMIM:614474	Atrioventricular septal defect 5			37
HP:0001627	HP:0001627	Abnormal heart morphology	0	GATA6 CL E G H	2627	4174	OMIM:217095	Conotruncal heart malformations			37
HP:0001627	HP:0001627	Abnormal heart morphology	0	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001627	HP:0001627	Abnormal heart morphology	0	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0001627	HP:0001627	Abnormal heart morphology	0	GATA6 CL E G H	2627	4174	OMIM:187500	Tetralogy of Fallot			37
HP:0001627	HP:0001627	Abnormal heart morphology	0	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot			37
HP:0001627	HP:0001627	Abnormal heart morphology	0	GATAD1 CL E G H	57798	29941	OMIM:614672	Cardiomyopathy, dilated, 2B			35
HP:0001627	HP:0001627	Abnormal heart morphology	0	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy			35
HP:0001627	HP:0001627	Abnormal heart morphology	0	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0001627	HP:0001627	Abnormal heart morphology	0	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0001627	HP:0001627	Abnormal heart morphology	0	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0001627	HP:0001627	Abnormal heart morphology	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal
HP:0001627	HP:0001627	Abnormal heart morphology	0	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC
HP:0001627	HP:0001627	Abnormal heart morphology	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV			86
HP:0001627	HP:0001627	Abnormal heart morphology	0	GCK CL E G H	2645	4195	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		237
HP:0001627	HP:0001627	Abnormal heart morphology	0	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6			28
HP:0001627	HP:0001627	Abnormal heart morphology	0	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0001627	HP:0001627	Abnormal heart morphology	0	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot			28
HP:0001627	HP:0001627	Abnormal heart morphology	0	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome			7
HP:0001627	HP:0001627	Abnormal heart morphology	0	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome			64
HP:0001627	HP:0001627	Abnormal heart morphology	0	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3			68
HP:0001627	HP:0001627	Abnormal heart morphology	0	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome			68
HP:0001627	HP:0001627	Abnormal heart morphology	0	GJA1 CL E G H	2697	4274	OMIM:241550	HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1			68
HP:0001627	HP:0001627	Abnormal heart morphology	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0001627	HP:0001627	Abnormal heart morphology	0	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0001627	HP:0001627	Abnormal heart morphology	0	GJA5 CL E G H	2702	4279	OMIM:108770	Atrial standstill 1			39
HP:0001627	HP:0001627	Abnormal heart morphology	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0001627	HP:0001627	Abnormal heart morphology	0	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot			39
HP:0001627	HP:0001627	Abnormal heart morphology	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0001627	HP:0001627	Abnormal heart morphology	0	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0001627	HP:0001627	Abnormal heart morphology	0	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease			291
HP:0001627	HP:0001627	Abnormal heart morphology	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0001627	HP:0001627	Abnormal heart morphology	0	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0001627	HP:0001627	Abnormal heart morphology	0	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0001627	HP:0001627	Abnormal heart morphology	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0001627	HP:0001627	Abnormal heart morphology	0	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly			173
HP:0001627	HP:0001627	Abnormal heart morphology	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		173
HP:0001627	HP:0001627	Abnormal heart morphology	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0001627	HP:0001627	Abnormal heart morphology	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0001627	HP:0001627	Abnormal heart morphology	0	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0001627	HP:0001627	Abnormal heart morphology	0	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome			270
HP:0001627	HP:0001627	Abnormal heart morphology	0	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia			17
HP:0001627	HP:0001627	Abnormal heart morphology	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			34
HP:0001627	HP:0001627	Abnormal heart morphology	0	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19			34
HP:0001627	HP:0001627	Abnormal heart morphology	0	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14			34
HP:0001627	HP:0001627	Abnormal heart morphology	0	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy			36
HP:0001627	HP:0001627	Abnormal heart morphology	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001627	HP:0001627	Abnormal heart morphology	0	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome			7
HP:0001627	HP:0001627	Abnormal heart morphology	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:0001627	HP:0001627	Abnormal heart morphology	0	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy			173
HP:0001627	HP:0001627	Abnormal heart morphology	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0001627	HP:0001627	Abnormal heart morphology	0	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0001627	HP:0001627	Abnormal heart morphology	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0001627	HP:0001627	Abnormal heart morphology	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0001627	HP:0001627	Abnormal heart morphology	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0001627	HP:0001627	Abnormal heart morphology	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0001627	HP:0001627	Abnormal heart morphology	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001627	HP:0001627	Abnormal heart morphology	0	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1			99
HP:0001627	HP:0001627	Abnormal heart morphology	0	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	GRB10 CL E G H	2887	4564	ORPHA:96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	HP:0040283 - Occasional
HP:0001627	HP:0001627	Abnormal heart morphology	0	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy			108
HP:0001627	HP:0001627	Abnormal heart morphology	0	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0001627	HP:0001627	Abnormal heart morphology	0	GSN CL E G H	2934	4620	OMIM:105120	Amyloidosis, Finnish type			53
HP:0001627	HP:0001627	Abnormal heart morphology	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23			30
HP:0001627	HP:0001627	Abnormal heart morphology	0	GTPBP3 CL E G H	84705	14880	OMIM:616198	Combined oxidative phosphorylation deficiency 23			30
HP:0001627	HP:0001627	Abnormal heart morphology	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0001627	HP:0001627	Abnormal heart morphology	0	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency			18
HP:0001627	HP:0001627	Abnormal heart morphology	0	GYG1 CL E G H	2992	4699	OMIM:613507	Glycogen storage disease XV			18
HP:0001627	HP:0001627	Abnormal heart morphology	0	GYS1 CL E G H	2997	4706	OMIM:611556	Glycogen storage disease 0, muscle			52
HP:0001627	HP:0001627	Abnormal heart morphology	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0001627	HP:0001627	Abnormal heart morphology	0	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0001627	HP:0001627	Abnormal heart morphology	0	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0001627	HP:0001627	Abnormal heart morphology	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0001627	HP:0001627	Abnormal heart morphology	0	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	HACD1 CL E G H	9200	9639	OMIM:619967				2
HP:0001627	HP:0001627	Abnormal heart morphology	0	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0001627	HP:0001627	Abnormal heart morphology	0	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency			41
HP:0001627	HP:0001627	Abnormal heart morphology	0	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency			41
HP:0001627	HP:0001627	Abnormal heart morphology	0	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency			99
HP:0001627	HP:0001627	Abnormal heart morphology	0	HADHA CL E G H	3030	4801	OMIM:609016	Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency			99
HP:0001627	HP:0001627	Abnormal heart morphology	0	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0001627	HP:0001627	Abnormal heart morphology	0	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0001627	HP:0001627	Abnormal heart morphology	0	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0001627	HP:0001627	Abnormal heart morphology	0	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0001627	HP:0001627	Abnormal heart morphology	0	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2			15
HP:0001627	HP:0001627	Abnormal heart morphology	0	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B			15
HP:0001627	HP:0001627	Abnormal heart morphology	0	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis			200
HP:0001627	HP:0001627	Abnormal heart morphology	0	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis			88
HP:0001627	HP:0001627	Abnormal heart morphology	0	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0001627	HP:0001627	Abnormal heart morphology	0	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0001627	HP:0001627	Abnormal heart morphology	0	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia			580
HP:0001627	HP:0001627	Abnormal heart morphology	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0001627	HP:0001627	Abnormal heart morphology	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7			11
HP:0001627	HP:0001627	Abnormal heart morphology	0	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2			185
HP:0001627	HP:0001627	Abnormal heart morphology	0	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome			33
HP:0001627	HP:0001627	Abnormal heart morphology	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0001627	HP:0001627	Abnormal heart morphology	0	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0001627	HP:0001627	Abnormal heart morphology	0	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive			10
HP:0001627	HP:0001627	Abnormal heart morphology	0	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease			80
HP:0001627	HP:0001627	Abnormal heart morphology	0	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0001627	HP:0001627	Abnormal heart morphology	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0001627	HP:0001627	Abnormal heart morphology	0	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1			38
HP:0001627	HP:0001627	Abnormal heart morphology	0	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0001627	HP:0001627	Abnormal heart morphology	0	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria			77
HP:0001627	HP:0001627	Abnormal heart morphology	0	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria			77
HP:0001627	HP:0001627	Abnormal heart morphology	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0001627	HP:0001627	Abnormal heart morphology	0	HIBCH CL E G H	26275	4908	OMIM:250620	3-Hydroxyisobutyryl-Coa hydrolase deficiency			32
HP:0001627	HP:0001627	Abnormal heart morphology	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency			32
HP:0001627	HP:0001627	Abnormal heart morphology	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2
HP:0001627	HP:0001627	Abnormal heart morphology	0	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A
HP:0001627	HP:0001627	Abnormal heart morphology	0	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0001627	HP:0001627	Abnormal heart morphology	0	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0001627	HP:0001627	Abnormal heart morphology	0	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			31
HP:0001627	HP:0001627	Abnormal heart morphology	0	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	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:0001627	HP:0001627	Abnormal heart morphology	0	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:0001627	HP:0001627	Abnormal heart morphology	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0001627	HP:0001627	Abnormal heart morphology	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome			39
HP:0001627	HP:0001627	Abnormal heart morphology	0	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome			11
HP:0001627	HP:0001627	Abnormal heart morphology	0	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association			25
HP:0001627	HP:0001627	Abnormal heart morphology	0	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1			121
HP:0001627	HP:0001627	Abnormal heart morphology	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0001627	HP:0001627	Abnormal heart morphology	0	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0001627	HP:0001627	Abnormal heart morphology	0	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess			14
HP:0001627	HP:0001627	Abnormal heart morphology	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0001627	HP:0001627	Abnormal heart morphology	0	HSD17B10 CL E G H	3028	4800	ORPHA:391457	HSD10 disease, neonatal type			19
HP:0001627	HP:0001627	Abnormal heart morphology	0	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease			19
HP:0001627	HP:0001627	Abnormal heart morphology	0	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0001627	HP:0001627	Abnormal heart morphology	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0001627	HP:0001627	Abnormal heart morphology	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional		345
HP:0001627	HP:0001627	Abnormal heart morphology	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		21
HP:0001627	HP:0001627	Abnormal heart morphology	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0001627	HP:0001627	Abnormal heart morphology	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome			31
HP:0001627	HP:0001627	Abnormal heart morphology	0	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0001627	HP:0001627	Abnormal heart morphology	0	HYMAI CL E G H	57061	5326	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional
HP:0001627	HP:0001627	Abnormal heart morphology	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0001627	HP:0001627	Abnormal heart morphology	0	IDH2 CL E G H	3418	5383	OMIM:613657	D-2-hydroxyglutaric aciduria 2			29
HP:0001627	HP:0001627	Abnormal heart morphology	0	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0001627	HP:0001627	Abnormal heart morphology	0	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0001627	HP:0001627	Abnormal heart morphology	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0001627	HP:0001627	Abnormal heart morphology	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0001627	HP:0001627	Abnormal heart morphology	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0001627	HP:0001627	Abnormal heart morphology	0	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome			115
HP:0001627	HP:0001627	Abnormal heart morphology	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0001627	HP:0001627	Abnormal heart morphology	0	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0001627	HP:0001627	Abnormal heart morphology	0	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0001627	HP:0001627	Abnormal heart morphology	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0001627	HP:0001627	Abnormal heart morphology	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0001627	HP:0001627	Abnormal heart morphology	0	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0001627	HP:0001627	Abnormal heart morphology	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0001627	HP:0001627	Abnormal heart morphology	0	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease			148
HP:0001627	HP:0001627	Abnormal heart morphology	0	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0001627	HP:0001627	Abnormal heart morphology	0	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly			48
HP:0001627	HP:0001627	Abnormal heart morphology	0	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0001627	HP:0001627	Abnormal heart morphology	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0001627	HP:0001627	Abnormal heart morphology	0	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome			8
HP:0001627	HP:0001627	Abnormal heart morphology	0	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0001627	HP:0001627	Abnormal heart morphology	0	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0001627	HP:0001627	Abnormal heart morphology	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis			31
HP:0001627	HP:0001627	Abnormal heart morphology	0	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis			14
HP:0001627	HP:0001627	Abnormal heart morphology	0	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis			196
HP:0001627	HP:0001627	Abnormal heart morphology	0	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome			111
HP:0001627	HP:0001627	Abnormal heart morphology	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect			111
HP:0001627	HP:0001627	Abnormal heart morphology	0	INS CL E G H	3630	6081	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		62
HP:0001627	HP:0001627	Abnormal heart morphology	0	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0001627	HP:0001627	Abnormal heart morphology	0	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0001627	HP:0001627	Abnormal heart morphology	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0001627	HP:0001627	Abnormal heart morphology	0	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0001627	HP:0001627	Abnormal heart morphology	0	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0001627	HP:0001627	Abnormal heart morphology	0	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2			106
HP:0001627	HP:0001627	Abnormal heart morphology	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0001627	HP:0001627	Abnormal heart morphology	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip			99
HP:0001627	HP:0001627	Abnormal heart morphology	0	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0001627	HP:0001627	Abnormal heart morphology	0	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1			51
HP:0001627	HP:0001627	Abnormal heart morphology	0	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35			8
HP:0001627	HP:0001627	Abnormal heart morphology	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0001627	HP:0001627	Abnormal heart morphology	0	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE			257
HP:0001627	HP:0001627	Abnormal heart morphology	0	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot			257
HP:0001627	HP:0001627	Abnormal heart morphology	0	JAG1 CL E G H	182	6188	OMIM:187500	Tetralogy of Fallot			257
HP:0001627	HP:0001627	Abnormal heart morphology	0	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	JPH2 CL E G H	57158	14202	OMIM:619492	CARDIOMYOPATHY, DILATED, 2E; CMD2E			111
HP:0001627	HP:0001627	Abnormal heart morphology	0	JPH2 CL E G H	57158	14202	OMIM:613873	Cardiomyopathy, familial hypertrophic, 17			111
HP:0001627	HP:0001627	Abnormal heart morphology	0	JUP CL E G H	3728	6207	OMIM:611528	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12			222
HP:0001627	HP:0001627	Abnormal heart morphology	0	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0001627	HP:0001627	Abnormal heart morphology	0	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease			222
HP:0001627	HP:0001627	Abnormal heart morphology	0	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease			222
HP:0001627	HP:0001627	Abnormal heart morphology	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent		283
HP:0001627	HP:0001627	Abnormal heart morphology	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0001627	HP:0001627	Abnormal heart morphology	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040282 - Frequent		283
HP:0001627	HP:0001627	Abnormal heart morphology	0	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0001627	HP:0001627	Abnormal heart morphology	0	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0001627	HP:0001627	Abnormal heart morphology	0	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0001627	HP:0001627	Abnormal heart morphology	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome			141
HP:0001627	HP:0001627	Abnormal heart morphology	0	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0001627	HP:0001627	Abnormal heart morphology	0	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant			141
HP:0001627	HP:0001627	Abnormal heart morphology	0	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0001627	HP:0001627	Abnormal heart morphology	0	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			10
HP:0001627	HP:0001627	Abnormal heart morphology	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0001627	HP:0001627	Abnormal heart morphology	0	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy			145
HP:0001627	HP:0001627	Abnormal heart morphology	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome			13
HP:0001627	HP:0001627	Abnormal heart morphology	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0001627	HP:0001627	Abnormal heart morphology	0	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency			127
HP:0001627	HP:0001627	Abnormal heart morphology	0	KCNJ11 CL E G H	3767	6257	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		127
HP:0001627	HP:0001627	Abnormal heart morphology	0	KCNJ11 CL E G H	3767	6257	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional		127
HP:0001627	HP:0001627	Abnormal heart morphology	0	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome			193
HP:0001627	HP:0001627	Abnormal heart morphology	0	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome			128
HP:0001627	HP:0001627	Abnormal heart morphology	0	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III			128
HP:0001627	HP:0001627	Abnormal heart morphology	0	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0001627	HP:0001627	Abnormal heart morphology	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0001627	HP:0001627	Abnormal heart morphology	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0001627	HP:0001627	Abnormal heart morphology	0	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0001627	HP:0001627	Abnormal heart morphology	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0001627	HP:0001627	Abnormal heart morphology	0	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0001627	HP:0001627	Abnormal heart morphology	0	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot			40
HP:0001627	HP:0001627	Abnormal heart morphology	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome			24
HP:0001627	HP:0001627	Abnormal heart morphology	0	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly			24
HP:0001627	HP:0001627	Abnormal heart morphology	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		4
HP:0001627	HP:0001627	Abnormal heart morphology	0	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0001627	HP:0001627	Abnormal heart morphology	0	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	KIF20A CL E G H	10112	9787	OMIM:619433	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0001627	HP:0001627	Abnormal heart morphology	0	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy
HP:0001627	HP:0001627	Abnormal heart morphology	0	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0001627	HP:0001627	Abnormal heart morphology	0	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0001627	HP:0001627	Abnormal heart morphology	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		167
HP:0001627	HP:0001627	Abnormal heart morphology	0	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0001627	HP:0001627	Abnormal heart morphology	0	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0001627	HP:0001627	Abnormal heart morphology	0	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0001627	HP:0001627	Abnormal heart morphology	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040282 - Frequent		99
HP:0001627	HP:0001627	Abnormal heart morphology	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0001627	HP:0001627	Abnormal heart morphology	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0001627	HP:0001627	Abnormal heart morphology	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0001627	HP:0001627	Abnormal heart morphology	0	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2			196
HP:0001627	HP:0001627	Abnormal heart morphology	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis			196
HP:0001627	HP:0001627	Abnormal heart morphology	0	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome			196
HP:0001627	HP:0001627	Abnormal heart morphology	0	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0001627	HP:0001627	Abnormal heart morphology	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0001627	HP:0001627	Abnormal heart morphology	0	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome			196
HP:0001627	HP:0001627	Abnormal heart morphology	0	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy			411
HP:0001627	HP:0001627	Abnormal heart morphology	0	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			116
HP:0001627	HP:0001627	Abnormal heart morphology	0	LAMA4 CL E G H	3910	6484	OMIM:615235	Cardiomyopathy, dilated, 1jj			279
HP:0001627	HP:0001627	Abnormal heart morphology	0	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy			279
HP:0001627	HP:0001627	Abnormal heart morphology	0	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0001627	HP:0001627	Abnormal heart morphology	0	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes			92
HP:0001627	HP:0001627	Abnormal heart morphology	0	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			167
HP:0001627	HP:0001627	Abnormal heart morphology	0	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			135
HP:0001627	HP:0001627	Abnormal heart morphology	0	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease			211
HP:0001627	HP:0001627	Abnormal heart morphology	0	LAMP2 CL E G H	3920	6501	ORPHA:34587	Glycogen storage disease due to LAMP-2 deficiency			211
HP:0001627	HP:0001627	Abnormal heart morphology	0	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome			16
HP:0001627	HP:0001627	Abnormal heart morphology	0	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia			54
HP:0001627	HP:0001627	Abnormal heart morphology	0	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0001627	HP:0001627	Abnormal heart morphology	0	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction			286
HP:0001627	HP:0001627	Abnormal heart morphology	0	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy			286
HP:0001627	HP:0001627	Abnormal heart morphology	0	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type			286
HP:0001627	HP:0001627	Abnormal heart morphology	0	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4			286
HP:0001627	HP:0001627	Abnormal heart morphology	0	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia			2157
HP:0001627	HP:0001627	Abnormal heart morphology	0	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia			73
HP:0001627	HP:0001627	Abnormal heart morphology	0	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	LEMD3 CL E G H	23592	28887	ORPHA:166119	Isolated osteopoikilosis			68
HP:0001627	HP:0001627	Abnormal heart morphology	0	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0001627	HP:0001627	Abnormal heart morphology	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures			31
HP:0001627	HP:0001627	Abnormal heart morphology	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W			10
HP:0001627	HP:0001627	Abnormal heart morphology	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0001627	HP:0001627	Abnormal heart morphology	0	LMBRD1 CL E G H	55788	23038	ORPHA:79284	Methylmalonic acidemia with homocystinuria type cblF	HP:0040282 - Frequent		46
HP:0001627	HP:0001627	Abnormal heart morphology	0	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0001627	HP:0001627	Abnormal heart morphology	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0001627	HP:0001627	Abnormal heart morphology	0	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0001627	HP:0001627	Abnormal heart morphology	0	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy			645
HP:0001627	HP:0001627	Abnormal heart morphology	0	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0001627	HP:0001627	Abnormal heart morphology	0	LMNA CL E G H	4000	6636	OMIM:115200	Cardiomyopathy, dilated, 1A			645
HP:0001627	HP:0001627	Abnormal heart morphology	0	LMNA CL E G H	4000	6636	ORPHA:2229	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome			645
HP:0001627	HP:0001627	Abnormal heart morphology	0	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant			645
HP:0001627	HP:0001627	Abnormal heart morphology	0	LMNA CL E G H	4000	6636	ORPHA:300751	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation			645
HP:0001627	HP:0001627	Abnormal heart morphology	0	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy			645
HP:0001627	HP:0001627	Abnormal heart morphology	0	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type			645
HP:0001627	HP:0001627	Abnormal heart morphology	0	LMNA CL E G H	4000	6636	OMIM:610140	Heart-hand syndrome, Slovenian type			645
HP:0001627	HP:0001627	Abnormal heart morphology	0	LMNA CL E G H	4000	6636	ORPHA:168796	Heart-hand syndrome, Slovenian type			645
HP:0001627	HP:0001627	Abnormal heart morphology	0	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0001627	HP:0001627	Abnormal heart morphology	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome			645
HP:0001627	HP:0001627	Abnormal heart morphology	0	LMNA CL E G H	4000	6636	OMIM:212112	Malouf syndrome			645
HP:0001627	HP:0001627	Abnormal heart morphology	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0001627	HP:0001627	Abnormal heart morphology	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0001627	HP:0001627	Abnormal heart morphology	0	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0001627	HP:0001627	Abnormal heart morphology	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0001627	HP:0001627	Abnormal heart morphology	0	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0001627	HP:0001627	Abnormal heart morphology	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0001627	HP:0001627	Abnormal heart morphology	0	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10			6
HP:0001627	HP:0001627	Abnormal heart morphology	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			6
HP:0001627	HP:0001627	Abnormal heart morphology	0	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0001627	HP:0001627	Abnormal heart morphology	0	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0001627	HP:0001627	Abnormal heart morphology	0	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0001627	HP:0001627	Abnormal heart morphology	0	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome			125
HP:0001627	HP:0001627	Abnormal heart morphology	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040283 - Occasional		191
HP:0001627	HP:0001627	Abnormal heart morphology	0	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0001627	HP:0001627	Abnormal heart morphology	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001627	Abnormal heart morphology	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0001627	HP:0001627	Abnormal heart morphology	0	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome			123
HP:0001627	HP:0001627	Abnormal heart morphology	0	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature			12
HP:0001627	HP:0001627	Abnormal heart morphology	0	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC			92
HP:0001627	HP:0001627	Abnormal heart morphology	0	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy			92
HP:0001627	HP:0001627	Abnormal heart morphology	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0001627	HP:0001627	Abnormal heart morphology	0	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0001627	HP:0001627	Abnormal heart morphology	0	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0001627	HP:0001627	Abnormal heart morphology	0	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0001627	HP:0001627	Abnormal heart morphology	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0001627	HP:0001627	Abnormal heart morphology	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0001627	HP:0001627	Abnormal heart morphology	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0001627	HP:0001627	Abnormal heart morphology	0	MAP1B CL E G H	4131	6836	ORPHA:98892	Periventricular nodular heterotopia
HP:0001627	HP:0001627	Abnormal heart morphology	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0001627	HP:0001627	Abnormal heart morphology	0	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0001627	HP:0001627	Abnormal heart morphology	0	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0001627	HP:0001627	Abnormal heart morphology	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0001627	HP:0001627	Abnormal heart morphology	0	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0001627	HP:0001627	Abnormal heart morphology	0	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome			178
HP:0001627	HP:0001627	Abnormal heart morphology	0	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0001627	HP:0001627	Abnormal heart morphology	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0001627	HP:0001627	Abnormal heart morphology	0	MAP3K7 CL E G H	6885	6859	ORPHA:3238	Cardiospondylocarpofacial syndrome			11
HP:0001627	HP:0001627	Abnormal heart morphology	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent		11
HP:0001627	HP:0001627	Abnormal heart morphology	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0001627	HP:0001627	Abnormal heart morphology	0	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0001627	HP:0001627	Abnormal heart morphology	0	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1			21
HP:0001627	HP:0001627	Abnormal heart morphology	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			13
HP:0001627	HP:0001627	Abnormal heart morphology	0	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency			94
HP:0001627	HP:0001627	Abnormal heart morphology	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		13
HP:0001627	HP:0001627	Abnormal heart morphology	0	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001627	HP:0001627	Abnormal heart morphology	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0001627	HP:0001627	Abnormal heart morphology	0	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0001627	HP:0001627	Abnormal heart morphology	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome			228
HP:0001627	HP:0001627	Abnormal heart morphology	0	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome			228
HP:0001627	HP:0001627	Abnormal heart morphology	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.		228
HP:0001627	HP:0001627	Abnormal heart morphology	0	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional		74
HP:0001627	HP:0001627	Abnormal heart morphology	0	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects			74
HP:0001627	HP:0001627	Abnormal heart morphology	0	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18			25
HP:0001627	HP:0001627	Abnormal heart morphology	0	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0001627	HP:0001627	Abnormal heart morphology	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0001627	HP:0001627	Abnormal heart morphology	0	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0001627	HP:0001627	Abnormal heart morphology	0	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever			281
HP:0001627	HP:0001627	Abnormal heart morphology	0	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0001627	HP:0001627	Abnormal heart morphology	0	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE			281
HP:0001627	HP:0001627	Abnormal heart morphology	0	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome			281
HP:0001627	HP:0001627	Abnormal heart morphology	0	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional		1
HP:0001627	HP:0001627	Abnormal heart morphology	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	MEG3 CL E G H	55384	14575	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional		1
HP:0001627	HP:0001627	Abnormal heart morphology	0	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0001627	HP:0001627	Abnormal heart morphology	0	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome			7
HP:0001627	HP:0001627	Abnormal heart morphology	0	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0001627	HP:0001627	Abnormal heart morphology	0	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism			462
HP:0001627	HP:0001627	Abnormal heart morphology	0	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0001627	HP:0001627	Abnormal heart morphology	0	MFAP5 CL E G H	8076	29673	OMIM:616166	AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9			11
HP:0001627	HP:0001627	Abnormal heart morphology	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			11
HP:0001627	HP:0001627	Abnormal heart morphology	0	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0001627	HP:0001627	Abnormal heart morphology	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional		39
HP:0001627	HP:0001627	Abnormal heart morphology	0	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11			11
HP:0001627	HP:0001627	Abnormal heart morphology	0	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome			11
HP:0001627	HP:0001627	Abnormal heart morphology	0	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome			33
HP:0001627	HP:0001627	Abnormal heart morphology	0	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome			33
HP:0001627	HP:0001627	Abnormal heart morphology	0	MIB1 CL E G H	57534	21086	OMIM:615092	Left ventricular noncompaction 7			28
HP:0001627	HP:0001627	Abnormal heart morphology	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001627	HP:0001627	Abnormal heart morphology	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0001627	HP:0001627	Abnormal heart morphology	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional		57
HP:0001627	HP:0001627	Abnormal heart morphology	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I	.		57
HP:0001627	HP:0001627	Abnormal heart morphology	0	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31			7
HP:0001627	HP:0001627	Abnormal heart morphology	0	MIR17HG CL E G H	407975	23564	ORPHA:391646	Feingold syndrome type 2			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome			69
HP:0001627	HP:0001627	Abnormal heart morphology	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome			127
HP:0001627	HP:0001627	Abnormal heart morphology	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect			127
HP:0001627	HP:0001627	Abnormal heart morphology	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome			127
HP:0001627	HP:0001627	Abnormal heart morphology	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0001627	HP:0001627	Abnormal heart morphology	0	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome			1819
HP:0001627	HP:0001627	Abnormal heart morphology	0	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome			131
HP:0001627	HP:0001627	Abnormal heart morphology	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0001627	HP:0001627	Abnormal heart morphology	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0001627	HP:0001627	Abnormal heart morphology	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional		101
HP:0001627	HP:0001627	Abnormal heart morphology	0	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0001627	HP:0001627	Abnormal heart morphology	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0001627	HP:0001627	Abnormal heart morphology	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0001627	HP:0001627	Abnormal heart morphology	0	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0001627	HP:0001627	Abnormal heart morphology	0	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0001627	HP:0001627	Abnormal heart morphology	0	MNS1 CL E G H	55329	29636	OMIM:618948	HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0001627	HP:0001627	Abnormal heart morphology	0	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0001627	HP:0001627	Abnormal heart morphology	0	MPL CL E G H	4352	7217	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia			97
HP:0001627	HP:0001627	Abnormal heart morphology	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0001627	HP:0001627	Abnormal heart morphology	0	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive			9
HP:0001627	HP:0001627	Abnormal heart morphology	0	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency			26
HP:0001627	HP:0001627	Abnormal heart morphology	0	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0001627	HP:0001627	Abnormal heart morphology	0	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0001627	HP:0001627	Abnormal heart morphology	0	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16			13
HP:0001627	HP:0001627	Abnormal heart morphology	0	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0001627	HP:0001627	Abnormal heart morphology	0	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5			25
HP:0001627	HP:0001627	Abnormal heart morphology	0	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome			2162
HP:0001627	HP:0001627	Abnormal heart morphology	0	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome			2232
HP:0001627	HP:0001627	Abnormal heart morphology	0	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip			12
HP:0001627	HP:0001627	Abnormal heart morphology	0	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15			29
HP:0001627	HP:0001627	Abnormal heart morphology	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0001627	HP:0001627	Abnormal heart morphology	0	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10			39
HP:0001627	HP:0001627	Abnormal heart morphology	0	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia			81
HP:0001627	HP:0001627	Abnormal heart morphology	0	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4			1143
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy			1143
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10			1143
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040283 - Occasional		35
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4			418
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection			418
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			418
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome			418
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYH6 CL E G H	4624	7576	OMIM:614089	ATRIAL SEPTAL DEFECT 3; ASD3			452
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type			452
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYH6 CL E G H	4624	7576	OMIM:613252	Cardiomyopathy, dilated, 1ee			452
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYH6 CL E G H	4624	7576	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			452
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYH6 CL E G H	4624	7576	OMIM:613251	Cardiomyopathy, familial hypertrophic, 14			452
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy			452
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYH7 CL E G H	4625	7577	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			1269
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve			1269
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy			1269
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy			1269
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy			1269
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1269
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1			1269
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive			1269
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYH8 CL E G H	4626	7578	OMIM:608837	CARNEY COMPLEX VARIANT			93
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10			131
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8			95
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			326
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome			326
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYLK2 CL E G H	85366	16243	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			124
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy			75
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY			75
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16			81
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy			217
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYPN CL E G H	84665	23246	OMIM:615248	Cardiomyopathy, dilated, 1kk			217
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy			217
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy			217
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive			217
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0001627	HP:0001627	Abnormal heart morphology	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001627	HP:0001627	Abnormal heart morphology	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome			23
HP:0001627	HP:0001627	Abnormal heart morphology	0	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0001627	HP:0001627	Abnormal heart morphology	0	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0001627	HP:0001627	Abnormal heart morphology	0	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1			47
HP:0001627	HP:0001627	Abnormal heart morphology	0	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2			47
HP:0001627	HP:0001627	Abnormal heart morphology	0	NAGA CL E G H	4668	7631	ORPHA:79281	Alpha-N-acetylgalactosaminidase deficiency type 3			47
HP:0001627	HP:0001627	Abnormal heart morphology	0	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0001627	HP:0001627	Abnormal heart morphology	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0001627	HP:0001627	Abnormal heart morphology	0	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2			25
HP:0001627	HP:0001627	Abnormal heart morphology	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.		2
HP:0001627	HP:0001627	Abnormal heart morphology	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0001627	HP:0001627	Abnormal heart morphology	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0001627	HP:0001627	Abnormal heart morphology	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0001627	HP:0001627	Abnormal heart morphology	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001627	Abnormal heart morphology	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0001627	HP:0001627	Abnormal heart morphology	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0001627	HP:0001627	Abnormal heart morphology	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0001627	HP:0001627	Abnormal heart morphology	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0001627	HP:0001627	Abnormal heart morphology	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001627	Abnormal heart morphology	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0001627	HP:0001627	Abnormal heart morphology	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly			96
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			96
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFA10 CL E G H	4705	7684	OMIM:618243	Mitochondrial complex I deficiency, nuclear type 22			91
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14			32
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFA2 CL E G H	4695	7685	OMIM:618235	Mitochondrial complex I deficiency, nuclear type 13			19
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11			40
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15			50
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFB11 CL E G H	54539	20372	OMIM:300952	Linear skin defects with multiple congenital anomalies 3			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6			65
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0001627	HP:0001627	Abnormal heart morphology	0	NDUFV2 CL E G H	4729	7717	OMIM:618229	Mitochondrial complex I deficiency, nuclear type 7			27
HP:0001627	HP:0001627	Abnormal heart morphology	0	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0001627	HP:0001627	Abnormal heart morphology	0	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy			745
HP:0001627	HP:0001627	Abnormal heart morphology	0	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	NEDD4L CL E G H	23327	7728	ORPHA:98892	Periventricular nodular heterotopia			30
HP:0001627	HP:0001627	Abnormal heart morphology	0	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0001627	HP:0001627	Abnormal heart morphology	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0001627	HP:0001627	Abnormal heart morphology	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001627	Abnormal heart morphology	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2			43
HP:0001627	HP:0001627	Abnormal heart morphology	0	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy			9
HP:0001627	HP:0001627	Abnormal heart morphology	0	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0001627	HP:0001627	Abnormal heart morphology	0	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional		43
HP:0001627	HP:0001627	Abnormal heart morphology	0	NEU1 CL E G H	4758	7758	ORPHA:93399	Juvenile sialidosis type 2	HP:0040283 - Occasional		43
HP:0001627	HP:0001627	Abnormal heart morphology	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0001627	HP:0001627	Abnormal heart morphology	0	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0001627	HP:0001627	Abnormal heart morphology	0	NEXN CL E G H	91624	29557	OMIM:613122	Cardiomyopathy, dilated, 1cc			167
HP:0001627	HP:0001627	Abnormal heart morphology	0	NEXN CL E G H	91624	29557	OMIM:613876	Cardiomyopathy, familial hypertrophic, 20			167
HP:0001627	HP:0001627	Abnormal heart morphology	0	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy			167
HP:0001627	HP:0001627	Abnormal heart morphology	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040282 - Frequent		1952
HP:0001627	HP:0001627	Abnormal heart morphology	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040282 - Frequent		1952
HP:0001627	HP:0001627	Abnormal heart morphology	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0001627	HP:0001627	Abnormal heart morphology	0	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome			1952
HP:0001627	HP:0001627	Abnormal heart morphology	0	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia	HP:0040284 - Very rare		20
HP:0001627	HP:0001627	Abnormal heart morphology	0	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0001627	HP:0001627	Abnormal heart morphology	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0001627	HP:0001627	Abnormal heart morphology	0	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0001627	HP:0001627	Abnormal heart morphology	0	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040283 - Occasional		117
HP:0001627	HP:0001627	Abnormal heart morphology	0	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001627	Abnormal heart morphology	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0001627	HP:0001627	Abnormal heart morphology	0	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0001627	HP:0001627	Abnormal heart morphology	0	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0001627	HP:0001627	Abnormal heart morphology	0	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0001627	HP:0001627	Abnormal heart morphology	0	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0001627	HP:0001627	Abnormal heart morphology	0	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects			90
HP:0001627	HP:0001627	Abnormal heart morphology	0	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type			90
HP:0001627	HP:0001627	Abnormal heart morphology	0	NKX2-5 CL E G H	1482	2488	ORPHA:1479	Atrial septal defect-atrioventricular conduction defects syndrome			90
HP:0001627	HP:0001627	Abnormal heart morphology	0	NKX2-5 CL E G H	1482	2488	OMIM:217095	Conotruncal heart malformations			90
HP:0001627	HP:0001627	Abnormal heart morphology	0	NKX2-5 CL E G H	1482	2488	ORPHA:402075	Familial bicuspid aortic valve			90
HP:0001627	HP:0001627	Abnormal heart morphology	0	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome			90
HP:0001627	HP:0001627	Abnormal heart morphology	0	NKX2-5 CL E G H	1482	2488	OMIM:614435	Hypoplastic left heart syndrome 2			90
HP:0001627	HP:0001627	Abnormal heart morphology	0	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot			90
HP:0001627	HP:0001627	Abnormal heart morphology	0	NKX2-5 CL E G H	1482	2488	OMIM:187500	Tetralogy of Fallot			90
HP:0001627	HP:0001627	Abnormal heart morphology	0	NKX2-5 CL E G H	1482	2488	OMIM:614432	Ventricular septal defect 3			90
HP:0001627	HP:0001627	Abnormal heart morphology	0	NKX2-6 CL E G H	137814	32940	OMIM:217095	Conotruncal heart malformations			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040281 - Very frequent		3
HP:0001627	HP:0001627	Abnormal heart morphology	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		50
HP:0001627	HP:0001627	Abnormal heart morphology	0	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency			13
HP:0001627	HP:0001627	Abnormal heart morphology	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0001627	HP:0001627	Abnormal heart morphology	0	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0001627	HP:0001627	Abnormal heart morphology	0	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0001627	HP:0001627	Abnormal heart morphology	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0001627	HP:0001627	Abnormal heart morphology	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001627	HP:0001627	Abnormal heart morphology	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0001627	HP:0001627	Abnormal heart morphology	0	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly			45
HP:0001627	HP:0001627	Abnormal heart morphology	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		45
HP:0001627	HP:0001627	Abnormal heart morphology	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0001627	HP:0001627	Abnormal heart morphology	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0001627	HP:0001627	Abnormal heart morphology	0	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0001627	HP:0001627	Abnormal heart morphology	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0001627	HP:0001627	Abnormal heart morphology	0	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0001627	HP:0001627	Abnormal heart morphology	0	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1			452
HP:0001627	HP:0001627	Abnormal heart morphology	0	NOTCH1 CL E G H	4851	7881	ORPHA:402075	Familial bicuspid aortic valve			452
HP:0001627	HP:0001627	Abnormal heart morphology	0	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2			138
HP:0001627	HP:0001627	Abnormal heart morphology	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0001627	HP:0001627	Abnormal heart morphology	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0001627	HP:0001627	Abnormal heart morphology	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0001627	HP:0001627	Abnormal heart morphology	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0001627	HP:0001627	Abnormal heart morphology	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0001627	HP:0001627	Abnormal heart morphology	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0001627	HP:0001627	Abnormal heart morphology	0	NPPA CL E G H	4878	7939	OMIM:612201	Atrial fibrillation, familial, 6			13
HP:0001627	HP:0001627	Abnormal heart morphology	0	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040282 - Frequent		13
HP:0001627	HP:0001627	Abnormal heart morphology	0	NPPA CL E G H	4878	7939	OMIM:615745	Atrial standstill 2			13
HP:0001627	HP:0001627	Abnormal heart morphology	0	NPR3 CL E G H	4883	7945	OMIM:619543	BOUDIN-MORTIER SYNDROME; BOMOS
HP:0001627	HP:0001627	Abnormal heart morphology	0	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5			13
HP:0001627	HP:0001627	Abnormal heart morphology	0	NR2F2 CL E G H	7026	7976	OMIM:615779	Congenital heart defects, multiple types, 4			13
HP:0001627	HP:0001627	Abnormal heart morphology	0	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0001627	HP:0001627	Abnormal heart morphology	0	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0001627	HP:0001627	Abnormal heart morphology	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		544
HP:0001627	HP:0001627	Abnormal heart morphology	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0001627	HP:0001627	Abnormal heart morphology	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0001627	HP:0001627	Abnormal heart morphology	0	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0001627	HP:0001627	Abnormal heart morphology	0	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0001627	HP:0001627	Abnormal heart morphology	0	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0001627	HP:0001627	Abnormal heart morphology	0	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	NUP155 CL E G H	9631	8063	OMIM:615770	Atrial fibrillation, familial, 15			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0001627	HP:0001627	Abnormal heart morphology	0	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20
HP:0001627	HP:0001627	Abnormal heart morphology	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001627	Abnormal heart morphology	0	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0001627	HP:0001627	Abnormal heart morphology	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001627	Abnormal heart morphology	0	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30
HP:0001627	HP:0001627	Abnormal heart morphology	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001627	Abnormal heart morphology	0	ODAD4 CL E G H	83538	25280	OMIM:617092	Ciliary dyskinesia, primary, 35
HP:0001627	HP:0001627	Abnormal heart morphology	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001627	Abnormal heart morphology	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.		201
HP:0001627	HP:0001627	Abnormal heart morphology	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		201
HP:0001627	HP:0001627	Abnormal heart morphology	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		201
HP:0001627	HP:0001627	Abnormal heart morphology	0	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0001627	HP:0001627	Abnormal heart morphology	0	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14			214
HP:0001627	HP:0001627	Abnormal heart morphology	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001627	HP:0001627	Abnormal heart morphology	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			41
HP:0001627	HP:0001627	Abnormal heart morphology	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0001627	HP:0001627	Abnormal heart morphology	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0001627	HP:0001627	Abnormal heart morphology	0	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0001627	HP:0001627	Abnormal heart morphology	0	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040281 - Very frequent		641
HP:0001627	HP:0001627	Abnormal heart morphology	0	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0001627	HP:0001627	Abnormal heart morphology	0	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N			1349
HP:0001627	HP:0001627	Abnormal heart morphology	0	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0001627	HP:0001627	Abnormal heart morphology	0	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3			59
HP:0001627	HP:0001627	Abnormal heart morphology	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	HP:0040284 - Very rare		3
HP:0001627	HP:0001627	Abnormal heart morphology	0	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia			96
HP:0001627	HP:0001627	Abnormal heart morphology	0	PCCA CL E G H	5095	8653	ORPHA:35	Propionic acidemia			96
HP:0001627	HP:0001627	Abnormal heart morphology	0	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia			92
HP:0001627	HP:0001627	Abnormal heart morphology	0	PCCB CL E G H	5096	8654	ORPHA:35	Propionic acidemia			92
HP:0001627	HP:0001627	Abnormal heart morphology	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0001627	HP:0001627	Abnormal heart morphology	0	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia			178
HP:0001627	HP:0001627	Abnormal heart morphology	0	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0001627	HP:0001627	Abnormal heart morphology	0	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0001627	HP:0001627	Abnormal heart morphology	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		1
HP:0001627	HP:0001627	Abnormal heart morphology	0	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0001627	HP:0001627	Abnormal heart morphology	0	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic			337
HP:0001627	HP:0001627	Abnormal heart morphology	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0001627	HP:0001627	Abnormal heart morphology	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0001627	HP:0001627	Abnormal heart morphology	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome			54
HP:0001627	HP:0001627	Abnormal heart morphology	0	PDX1 CL E G H	3651	6107	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		30
HP:0001627	HP:0001627	Abnormal heart morphology	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease			169
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease			75
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease			65
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease			66
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease			46
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease			59
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)			59
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease			62
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease			82
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX2 CL E G H	5828	9717	OMIM:614866	Peroxisome biogenesis disorder 5A (Zellweger)	.		82
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease			106
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease			47
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease			99
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX5 CL E G H	5830	9719	OMIM:214110	Peroxisome biogenesis disorder 2A (Zellweger)	.		99
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease			98
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX7 CL E G H	5191	8860	OMIM:614879	Peroxisome biogenesis disorder 9B			72
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease			72
HP:0001627	HP:0001627	Abnormal heart morphology	0	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease			72
HP:0001627	HP:0001627	Abnormal heart morphology	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0001627	HP:0001627	Abnormal heart morphology	0	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0001627	HP:0001627	Abnormal heart morphology	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0001627	HP:0001627	Abnormal heart morphology	0	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0001627	HP:0001627	Abnormal heart morphology	0	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0001627	HP:0001627	Abnormal heart morphology	0	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease			45
HP:0001627	HP:0001627	Abnormal heart morphology	0	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease			45
HP:0001627	HP:0001627	Abnormal heart morphology	0	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0001627	HP:0001627	Abnormal heart morphology	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0001627	HP:0001627	Abnormal heart morphology	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0001627	HP:0001627	Abnormal heart morphology	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome			77
HP:0001627	HP:0001627	Abnormal heart morphology	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0001627	HP:0001627	Abnormal heart morphology	0	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001627	HP:0001627	Abnormal heart morphology	0	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0001627	HP:0001627	Abnormal heart morphology	0	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0001627	HP:0001627	Abnormal heart morphology	0	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0001627	HP:0001627	Abnormal heart morphology	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0001627	HP:0001627	Abnormal heart morphology	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0001627	HP:0001627	Abnormal heart morphology	0	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0001627	HP:0001627	Abnormal heart morphology	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0001627	HP:0001627	Abnormal heart morphology	0	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0001627	HP:0001627	Abnormal heart morphology	0	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040282 - Frequent		12
HP:0001627	HP:0001627	Abnormal heart morphology	0	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0001627	HP:0001627	Abnormal heart morphology	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation	.		57
HP:0001627	HP:0001627	Abnormal heart morphology	0	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome			162
HP:0001627	HP:0001627	Abnormal heart morphology	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome			162
HP:0001627	HP:0001627	Abnormal heart morphology	0	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome			12
HP:0001627	HP:0001627	Abnormal heart morphology	0	PIK3R2 CL E G H	5296	8980	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome			12
HP:0001627	HP:0001627	Abnormal heart morphology	0	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease			342
HP:0001627	HP:0001627	Abnormal heart morphology	0	PKD1 CL E G H	5310	9008	OMIM:173900	Polycystic kidneys			342
HP:0001627	HP:0001627	Abnormal heart morphology	0	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease			106
HP:0001627	HP:0001627	Abnormal heart morphology	0	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2			106
HP:0001627	HP:0001627	Abnormal heart morphology	0	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001627	HP:0001627	Abnormal heart morphology	0	PKP2 CL E G H	5318	9024	OMIM:609040	Arrhythmogenic right ventricular dysplasia, familial, 9			406
HP:0001627	HP:0001627	Abnormal heart morphology	0	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0001627	HP:0001627	Abnormal heart morphology	0	PLAGL1 CL E G H	5325	9046	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional
HP:0001627	HP:0001627	Abnormal heart morphology	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0001627	HP:0001627	Abnormal heart morphology	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional
HP:0001627	HP:0001627	Abnormal heart morphology	0	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	PLN CL E G H	5350	9080	OMIM:609909	Cardiomyopathy, dilated, 1P			57
HP:0001627	HP:0001627	Abnormal heart morphology	0	PLN CL E G H	5350	9080	OMIM:613874	Cardiomyopathy, familial hypertrophic, 18			57
HP:0001627	HP:0001627	Abnormal heart morphology	0	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy			57
HP:0001627	HP:0001627	Abnormal heart morphology	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0001627	HP:0001627	Abnormal heart morphology	0	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0001627	HP:0001627	Abnormal heart morphology	0	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040281 - Very frequent
HP:0001627	HP:0001627	Abnormal heart morphology	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0001627	HP:0001627	Abnormal heart morphology	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0001627	HP:0001627	Abnormal heart morphology	0	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome			56
HP:0001627	HP:0001627	Abnormal heart morphology	0	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome			1121
HP:0001627	HP:0001627	Abnormal heart morphology	0	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy			244
HP:0001627	HP:0001627	Abnormal heart morphology	0	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy			65
HP:0001627	HP:0001627	Abnormal heart morphology	0	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0001627	HP:0001627	Abnormal heart morphology	0	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy			65
HP:0001627	HP:0001627	Abnormal heart morphology	0	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome	HP:0040284 - Very rare		35
HP:0001627	HP:0001627	Abnormal heart morphology	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare		35
HP:0001627	HP:0001627	Abnormal heart morphology	0	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0001627	HP:0001627	Abnormal heart morphology	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			464
HP:0001627	HP:0001627	Abnormal heart morphology	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0001627	HP:0001627	Abnormal heart morphology	0	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0001627	HP:0001627	Abnormal heart morphology	0	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			464
HP:0001627	HP:0001627	Abnormal heart morphology	0	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0001627	HP:0001627	Abnormal heart morphology	0	POLR1A CL E G H	25885	17264	ORPHA:1200	Burn-McKeown syndrome			8
HP:0001627	HP:0001627	Abnormal heart morphology	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0001627	HP:0001627	Abnormal heart morphology	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0001627	HP:0001627	Abnormal heart morphology	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			180
HP:0001627	HP:0001627	Abnormal heart morphology	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			18
HP:0001627	HP:0001627	Abnormal heart morphology	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			213
HP:0001627	HP:0001627	Abnormal heart morphology	0	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1			213
HP:0001627	HP:0001627	Abnormal heart morphology	0	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1			213
HP:0001627	HP:0001627	Abnormal heart morphology	0	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11			213
HP:0001627	HP:0001627	Abnormal heart morphology	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			221
HP:0001627	HP:0001627	Abnormal heart morphology	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2			221
HP:0001627	HP:0001627	Abnormal heart morphology	0	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14			221
HP:0001627	HP:0001627	Abnormal heart morphology	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			76
HP:0001627	HP:0001627	Abnormal heart morphology	0	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0001627	HP:0001627	Abnormal heart morphology	0	PPA2 CL E G H	27068	28883	OMIM:617223	Sudden cardiac failure, alcohol-induced			8
HP:0001627	HP:0001627	Abnormal heart morphology	0	PPA2 CL E G H	27068	28883	OMIM:617222	Sudden cardiac failure, infantile			8
HP:0001627	HP:0001627	Abnormal heart morphology	0	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0001627	HP:0001627	Abnormal heart morphology	0	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0001627	HP:0001627	Abnormal heart morphology	0	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C
HP:0001627	HP:0001627	Abnormal heart morphology	0	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0001627	HP:0001627	Abnormal heart morphology	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0001627	HP:0001627	Abnormal heart morphology	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0001627	HP:0001627	Abnormal heart morphology	0	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0001627	HP:0001627	Abnormal heart morphology	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0001627	HP:0001627	Abnormal heart morphology	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0001627	HP:0001627	Abnormal heart morphology	0	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040283 - Occasional		10
HP:0001627	HP:0001627	Abnormal heart morphology	0	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome			28
HP:0001627	HP:0001627	Abnormal heart morphology	0	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0001627	HP:0001627	Abnormal heart morphology	0	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type			28
HP:0001627	HP:0001627	Abnormal heart morphology	0	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0001627	HP:0001627	Abnormal heart morphology	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0001627	HP:0001627	Abnormal heart morphology	0	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy			148
HP:0001627	HP:0001627	Abnormal heart morphology	0	PRDM16 CL E G H	63976	14000	OMIM:615373	Left ventricular noncompaction 8			148
HP:0001627	HP:0001627	Abnormal heart morphology	0	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome			58
HP:0001627	HP:0001627	Abnormal heart morphology	0	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome			6
HP:0001627	HP:0001627	Abnormal heart morphology	0	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0001627	HP:0001627	Abnormal heart morphology	0	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001627	HP:0001627	Abnormal heart morphology	0	PRKACA CL E G H	5566	9380	OMIM:619142	CARDIOACROFACIAL DYSPLASIA 1; CAFD1			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	PRKAG2 CL E G H	51422	9386	OMIM:600858	Cardiomyopathy, familial hypertrophic, 6			235
HP:0001627	HP:0001627	Abnormal heart morphology	0	PRKAG2 CL E G H	51422	9386	OMIM:261740	Glycogen storage disease of heart, lethal congenital			235
HP:0001627	HP:0001627	Abnormal heart morphology	0	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0001627	HP:0001627	Abnormal heart morphology	0	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1			134
HP:0001627	HP:0001627	Abnormal heart morphology	0	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma			134
HP:0001627	HP:0001627	Abnormal heart morphology	0	PRKAR1A CL E G H	5573	9388	OMIM:255960	Myxoma, intracardiac			134
HP:0001627	HP:0001627	Abnormal heart morphology	0	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0001627	HP:0001627	Abnormal heart morphology	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			41
HP:0001627	HP:0001627	Abnormal heart morphology	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0001627	HP:0001627	Abnormal heart morphology	0	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0001627	HP:0001627	Abnormal heart morphology	0	PSEN1 CL E G H	5663	9508	OMIM:613694	Cardiomyopathy, dilated, 1U			241
HP:0001627	HP:0001627	Abnormal heart morphology	0	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy			241
HP:0001627	HP:0001627	Abnormal heart morphology	0	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V			59
HP:0001627	HP:0001627	Abnormal heart morphology	0	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy			59
HP:0001627	HP:0001627	Abnormal heart morphology	0	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms			20
HP:0001627	HP:0001627	Abnormal heart morphology	0	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0001627	HP:0001627	Abnormal heart morphology	0	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0001627	HP:0001627	Abnormal heart morphology	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0001627	HP:0001627	Abnormal heart morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0001627	HP:0001627	Abnormal heart morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly			665
HP:0001627	HP:0001627	Abnormal heart morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		665
HP:0001627	HP:0001627	Abnormal heart morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0001627	HP:0001627	Abnormal heart morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0001627	HP:0001627	Abnormal heart morphology	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0001627	HP:0001627	Abnormal heart morphology	0	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional		948
HP:0001627	HP:0001627	Abnormal heart morphology	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0001627	HP:0001627	Abnormal heart morphology	0	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0001627	HP:0001627	Abnormal heart morphology	0	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0001627	HP:0001627	Abnormal heart morphology	0	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0001627	HP:0001627	Abnormal heart morphology	0	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0001627	HP:0001627	Abnormal heart morphology	0	PTPN14 CL E G H	5784	9647	OMIM:613611	Choanal atresia and lymphedema			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	PTPN22 CL E G H	26191	9652	OMIM:152700	Systemic lupus erythematosus			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040282 - Frequent		19
HP:0001627	HP:0001627	Abnormal heart morphology	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0001627	HP:0001627	Abnormal heart morphology	0	PUF60 CL E G H	22827	17042	OMIM:615583	Verheij syndrome			19
HP:0001627	HP:0001627	Abnormal heart morphology	0	PURA CL E G H	5813	9701	ORPHA:314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	HP:0040283 - Occasional		53
HP:0001627	HP:0001627	Abnormal heart morphology	0	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency			71
HP:0001627	HP:0001627	Abnormal heart morphology	0	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency			166
HP:0001627	HP:0001627	Abnormal heart morphology	0	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0001627	HP:0001627	Abnormal heart morphology	0	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0001627	HP:0001627	Abnormal heart morphology	0	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0001627	HP:0001627	Abnormal heart morphology	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0001627	HP:0001627	Abnormal heart morphology	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040282 - Frequent		3
HP:0001627	HP:0001627	Abnormal heart morphology	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0001627	HP:0001627	Abnormal heart morphology	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0001627	HP:0001627	Abnormal heart morphology	0	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome			25
HP:0001627	HP:0001627	Abnormal heart morphology	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0001627	HP:0001627	Abnormal heart morphology	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0001627	HP:0001627	Abnormal heart morphology	0	RAD51C CL E G H	5889	9820	OMIM:613390	Fanconi anemia, complementation group O	.		391
HP:0001627	HP:0001627	Abnormal heart morphology	0	RAF1 CL E G H	5894	9829	OMIM:615916	Cardiomyopathy, dilated, 1nn			212
HP:0001627	HP:0001627	Abnormal heart morphology	0	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy			212
HP:0001627	HP:0001627	Abnormal heart morphology	0	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2			212
HP:0001627	HP:0001627	Abnormal heart morphology	0	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0001627	HP:0001627	Abnormal heart morphology	0	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0001627	HP:0001627	Abnormal heart morphology	0	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0001627	HP:0001627	Abnormal heart morphology	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040282 - Frequent		150
HP:0001627	HP:0001627	Abnormal heart morphology	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome	.		150
HP:0001627	HP:0001627	Abnormal heart morphology	0	RARB CL E G H	5915	9865	OMIM:615524	Microphthalmia, syndromic 12			9
HP:0001627	HP:0001627	Abnormal heart morphology	0	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040284 - Very rare		88
HP:0001627	HP:0001627	Abnormal heart morphology	0	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0001627	HP:0001627	Abnormal heart morphology	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome			16
HP:0001627	HP:0001627	Abnormal heart morphology	0	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0001627	HP:0001627	Abnormal heart morphology	0	RBM20 CL E G H	282996	27424	OMIM:613172	Cardiomyopathy, dilated, 1dd			363
HP:0001627	HP:0001627	Abnormal heart morphology	0	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy			363
HP:0001627	HP:0001627	Abnormal heart morphology	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0001627	HP:0001627	Abnormal heart morphology	0	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome			10
HP:0001627	HP:0001627	Abnormal heart morphology	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.		445
HP:0001627	HP:0001627	Abnormal heart morphology	0	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome			445
HP:0001627	HP:0001627	Abnormal heart morphology	0	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			334
HP:0001627	HP:0001627	Abnormal heart morphology	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0001627	HP:0001627	Abnormal heart morphology	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0001627	HP:0001627	Abnormal heart morphology	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040282 - Frequent		16
HP:0001627	HP:0001627	Abnormal heart morphology	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0001627	HP:0001627	Abnormal heart morphology	0	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0001627	HP:0001627	Abnormal heart morphology	0	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0001627	HP:0001627	Abnormal heart morphology	0	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0001627	HP:0001627	Abnormal heart morphology	0	RLIM CL E G H	51132	13429	OMIM:300978	Tonne-Kalscheuer syndrome	HP:0040284 - Very rare		7
HP:0001627	HP:0001627	Abnormal heart morphology	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11			26
HP:0001627	HP:0001627	Abnormal heart morphology	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0001627	HP:0001627	Abnormal heart morphology	0	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0001627	HP:0001627	Abnormal heart morphology	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0001627	HP:0001627	Abnormal heart morphology	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0001627	HP:0001627	Abnormal heart morphology	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome			11
HP:0001627	HP:0001627	Abnormal heart morphology	0	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0001627	HP:0001627	Abnormal heart morphology	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0001627	HP:0001627	Abnormal heart morphology	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0001627	HP:0001627	Abnormal heart morphology	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001627	HP:0001627	Abnormal heart morphology	0	ROBO4 CL E G H	54538	17985	OMIM:618496	Aortic valve disease 3
HP:0001627	HP:0001627	Abnormal heart morphology	0	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0001627	HP:0001627	Abnormal heart morphology	0	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1			120
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		200
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome			109
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome			167
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		22
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		3
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPL15 CL E G H	6138	10306	OMIM:615550	Diamond-Blackfan anemia 12			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		3
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPL27 CL E G H	6155	10328	OMIM:617408	Diamond-Blackfan anemia 16			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		11
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5			11
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		40
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		26
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		5
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		42
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		22
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		20
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10			20
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		3
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0001627	HP:0001627	Abnormal heart morphology	0	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		20
HP:0001627	HP:0001627	Abnormal heart morphology	0	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0001627	HP:0001627	Abnormal heart morphology	0	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0001627	HP:0001627	Abnormal heart morphology	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		31
HP:0001627	HP:0001627	Abnormal heart morphology	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		5
HP:0001627	HP:0001627	Abnormal heart morphology	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		58
HP:0001627	HP:0001627	Abnormal heart morphology	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		20
HP:0001627	HP:0001627	Abnormal heart morphology	0	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0001627	HP:0001627	Abnormal heart morphology	0	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional
HP:0001627	HP:0001627	Abnormal heart morphology	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0001627	HP:0001627	Abnormal heart morphology	0	RTL1 CL E G H	388015	14665	ORPHA:254525	Temple syndrome due to paternal 14q32.2 microdeletion	HP:0040283 - Occasional
HP:0001627	HP:0001627	Abnormal heart morphology	0	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy			1200
HP:0001627	HP:0001627	Abnormal heart morphology	0	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease			1200
HP:0001627	HP:0001627	Abnormal heart morphology	0	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0001627	HP:0001627	Abnormal heart morphology	0	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia			1200
HP:0001627	HP:0001627	Abnormal heart morphology	0	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1200
HP:0001627	HP:0001627	Abnormal heart morphology	0	RYR2 CL E G H	6262	10484	OMIM:600996	Arrhythmogenic right ventricular dysplasia, familial, 2			1103
HP:0001627	HP:0001627	Abnormal heart morphology	0	RYR2 CL E G H	6262	10484	OMIM:115000	CARDIAC ARRHYTHMIA			1103
HP:0001627	HP:0001627	Abnormal heart morphology	0	RYR2 CL E G H	6262	10484	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1			1103
HP:0001627	HP:0001627	Abnormal heart morphology	0	SAA1 CL E G H	6288	10513	ORPHA:85445	AA amyloidosis	HP:0040284 - Very rare		2
HP:0001627	HP:0001627	Abnormal heart morphology	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay			309
HP:0001627	HP:0001627	Abnormal heart morphology	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0001627	HP:0001627	Abnormal heart morphology	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0001627	HP:0001627	Abnormal heart morphology	0	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome			86
HP:0001627	HP:0001627	Abnormal heart morphology	0	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome			86
HP:0001627	HP:0001627	Abnormal heart morphology	0	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome			86
HP:0001627	HP:0001627	Abnormal heart morphology	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0001627	HP:0001627	Abnormal heart morphology	0	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001627	HP:0001627	Abnormal heart morphology	0	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0001627	HP:0001627	Abnormal heart morphology	0	SBDS CL E G H	51119	19440	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional		26
HP:0001627	HP:0001627	Abnormal heart morphology	0	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1			26
HP:0001627	HP:0001627	Abnormal heart morphology	0	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1			77
HP:0001627	HP:0001627	Abnormal heart morphology	0	SCN1B CL E G H	6324	10586	OMIM:615377	Atrial fibrillation, familial, 13			126
HP:0001627	HP:0001627	Abnormal heart morphology	0	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy			126
HP:0001627	HP:0001627	Abnormal heart morphology	0	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy			427
HP:0001627	HP:0001627	Abnormal heart morphology	0	SCN5A CL E G H	6331	10593	OMIM:614022	Atrial fibrillation, familial, 10			1134
HP:0001627	HP:0001627	Abnormal heart morphology	0	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040282 - Frequent		1134
HP:0001627	HP:0001627	Abnormal heart morphology	0	SCN5A CL E G H	6331	10593	OMIM:601154	Cardiomyopathy, dilated, 1E			1134
HP:0001627	HP:0001627	Abnormal heart morphology	0	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy			1134
HP:0001627	HP:0001627	Abnormal heart morphology	0	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0001627	HP:0001627	Abnormal heart morphology	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0001627	HP:0001627	Abnormal heart morphology	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0001627	HP:0001627	Abnormal heart morphology	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:0001627	HP:0001627	Abnormal heart morphology	0	SCYL2 CL E G H	55681	19286	ORPHA:1143	Neurogenic arthrogryposis multiplex congenita	HP:0040283 - Occasional
HP:0001627	HP:0001627	Abnormal heart morphology	0	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg			304
HP:0001627	HP:0001627	Abnormal heart morphology	0	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy			304
HP:0001627	HP:0001627	Abnormal heart morphology	0	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0001627	HP:0001627	Abnormal heart morphology	0	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0001627	HP:0001627	Abnormal heart morphology	0	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency			304
HP:0001627	HP:0001627	Abnormal heart morphology	0	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0001627	HP:0001627	Abnormal heart morphology	0	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0001627	HP:0001627	Abnormal heart morphology	0	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0001627	HP:0001627	Abnormal heart morphology	0	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0001627	HP:0001627	Abnormal heart morphology	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0001627	HP:0001627	Abnormal heart morphology	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0001627	HP:0001627	Abnormal heart morphology	0	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0001627	HP:0001627	Abnormal heart morphology	0	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0001627	HP:0001627	Abnormal heart morphology	0	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			144
HP:0001627	HP:0001627	Abnormal heart morphology	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0001627	HP:0001627	Abnormal heart morphology	0	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X			48
HP:0001627	HP:0001627	Abnormal heart morphology	0	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency			39
HP:0001627	HP:0001627	Abnormal heart morphology	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0001627	HP:0001627	Abnormal heart morphology	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040282 - Frequent		143
HP:0001627	HP:0001627	Abnormal heart morphology	0	SETD1A CL E G H	9739	29010	OMIM:618832	EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD			6
HP:0001627	HP:0001627	Abnormal heart morphology	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		60
HP:0001627	HP:0001627	Abnormal heart morphology	0	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional		43
HP:0001627	HP:0001627	Abnormal heart morphology	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0001627	HP:0001627	Abnormal heart morphology	0	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency			51
HP:0001627	HP:0001627	Abnormal heart morphology	0	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D			132
HP:0001627	HP:0001627	Abnormal heart morphology	0	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4			113
HP:0001627	HP:0001627	Abnormal heart morphology	0	SGCB CL E G H	6443	10806	OMIM:604286	Muscular dystrophy, limb-girdle, type 2E			113
HP:0001627	HP:0001627	Abnormal heart morphology	0	SGCD CL E G H	6444	10807	OMIM:606685	CARDIOMYOPATHY, DILATED, 1L; CMD1L			223
HP:0001627	HP:0001627	Abnormal heart morphology	0	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy			223
HP:0001627	HP:0001627	Abnormal heart morphology	0	SGCD CL E G H	6444	10807	OMIM:601287	Muscular dystrophy, limb-girdle, type 2F			223
HP:0001627	HP:0001627	Abnormal heart morphology	0	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5			83
HP:0001627	HP:0001627	Abnormal heart morphology	0	SGO1 CL E G H	151648	25088	OMIM:616201	Chronic atrial and intestinal dysrhythmia			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0001627	HP:0001627	Abnormal heart morphology	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001627	Abnormal heart morphology	0	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome			134
HP:0001627	HP:0001627	Abnormal heart morphology	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0001627	HP:0001627	Abnormal heart morphology	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0001627	HP:0001627	Abnormal heart morphology	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0001627	HP:0001627	Abnormal heart morphology	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0001627	HP:0001627	Abnormal heart morphology	0	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly			67
HP:0001627	HP:0001627	Abnormal heart morphology	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		67
HP:0001627	HP:0001627	Abnormal heart morphology	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0001627	HP:0001627	Abnormal heart morphology	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0001627	HP:0001627	Abnormal heart morphology	0	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0001627	HP:0001627	Abnormal heart morphology	0	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0001627	HP:0001627	Abnormal heart morphology	0	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0001627	HP:0001627	Abnormal heart morphology	0	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy			11
HP:0001627	HP:0001627	Abnormal heart morphology	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0001627	HP:0001627	Abnormal heart morphology	0	SIN3A CL E G H	25942	19353	ORPHA:94065	15q24 microdeletion syndrome	HP:0040283 - Occasional		9
HP:0001627	HP:0001627	Abnormal heart morphology	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0001627	HP:0001627	Abnormal heart morphology	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2			32
HP:0001627	HP:0001627	Abnormal heart morphology	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0001627	HP:0001627	Abnormal heart morphology	0	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly			32
HP:0001627	HP:0001627	Abnormal heart morphology	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		32
HP:0001627	HP:0001627	Abnormal heart morphology	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0001627	HP:0001627	Abnormal heart morphology	0	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3			20
HP:0001627	HP:0001627	Abnormal heart morphology	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0001627	HP:0001627	Abnormal heart morphology	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0001627	HP:0001627	Abnormal heart morphology	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0001627	HP:0001627	Abnormal heart morphology	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040283 - Occasional
HP:0001627	HP:0001627	Abnormal heart morphology	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040283 - Occasional
HP:0001627	HP:0001627	Abnormal heart morphology	0	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease			78
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome			55
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary			207
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency			40
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency			40
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC25A3 CL E G H	5250	10989	ORPHA:91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome			35
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC25A3 CL E G H	5250	10989	OMIM:610773	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY			35
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC25A4 CL E G H	291	10990	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome			68
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant			68
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis			68
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome			178
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome			178
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome			42
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040283 - Occasional		27
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4			56
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis			109
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLC7A7 CL E G H	9056	11065	ORPHA:470	Lysinuric protein intolerance	HP:0040283 - Occasional		104
HP:0001627	HP:0001627	Abnormal heart morphology	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			7
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6			7
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040283 - Occasional		260
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			260
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			504
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome			504
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome			504
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMAD6 CL E G H	4091	6772	OMIM:614823	Aortic valve disease 2			33
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMAD6 CL E G H	4091	6772	ORPHA:402075	Familial bicuspid aortic valve			33
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		617
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4	.		617
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		87
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMARCB1 CL E G H	6598	11103	OMIM:614608	Coffin-Siris syndrome 3	.		87
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		1
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		47
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		135
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I			22
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B			164
HP:0001627	HP:0001627	Abnormal heart morphology	0	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7			12
HP:0001627	HP:0001627	Abnormal heart morphology	0	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome			6
HP:0001627	HP:0001627	Abnormal heart morphology	0	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0001627	HP:0001627	Abnormal heart morphology	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0001627	HP:0001627	Abnormal heart morphology	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0001627	HP:0001627	Abnormal heart morphology	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0001627	HP:0001627	Abnormal heart morphology	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0001627	HP:0001627	Abnormal heart morphology	0	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0001627	HP:0001627	Abnormal heart morphology	0	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0001627	HP:0001627	Abnormal heart morphology	0	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0001627	HP:0001627	Abnormal heart morphology	0	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9			30
HP:0001627	HP:0001627	Abnormal heart morphology	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent		14
HP:0001627	HP:0001627	Abnormal heart morphology	0	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome			33
HP:0001627	HP:0001627	Abnormal heart morphology	0	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3			33
HP:0001627	HP:0001627	Abnormal heart morphology	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040282 - Frequent
HP:0001627	HP:0001627	Abnormal heart morphology	0	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10
HP:0001627	HP:0001627	Abnormal heart morphology	0	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.		109
HP:0001627	HP:0001627	Abnormal heart morphology	0	SP110 CL E G H	3431	5401	OMIM:235550	Hepatic venoocclusive disease with immunodeficiency			49
HP:0001627	HP:0001627	Abnormal heart morphology	0	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28			45
HP:0001627	HP:0001627	Abnormal heart morphology	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		45
HP:0001627	HP:0001627	Abnormal heart morphology	0	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0001627	HP:0001627	Abnormal heart morphology	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0001627	HP:0001627	Abnormal heart morphology	0	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0001627	HP:0001627	Abnormal heart morphology	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		15
HP:0001627	HP:0001627	Abnormal heart morphology	0	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy			20
HP:0001627	HP:0001627	Abnormal heart morphology	0	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5			20
HP:0001627	HP:0001627	Abnormal heart morphology	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0001627	HP:0001627	Abnormal heart morphology	0	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0001627	HP:0001627	Abnormal heart morphology	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0001627	HP:0001627	Abnormal heart morphology	0	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0001627	HP:0001627	Abnormal heart morphology	0	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis			228
HP:0001627	HP:0001627	Abnormal heart morphology	0	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis			156
HP:0001627	HP:0001627	Abnormal heart morphology	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001627	HP:0001627	Abnormal heart morphology	0	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0001627	HP:0001627	Abnormal heart morphology	0	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0001627	HP:0001627	Abnormal heart morphology	0	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	SRP54 CL E G H	6729	11301	ORPHA:811	Shwachman-Diamond syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001627	Abnormal heart morphology	0	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0001627	HP:0001627	Abnormal heart morphology	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0001627	HP:0001627	Abnormal heart morphology	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0001627	HP:0001627	Abnormal heart morphology	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0001627	HP:0001627	Abnormal heart morphology	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0001627	HP:0001627	Abnormal heart morphology	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0001627	HP:0001627	Abnormal heart morphology	0	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency			45
HP:0001627	HP:0001627	Abnormal heart morphology	0	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0001627	HP:0001627	Abnormal heart morphology	0	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3			9
HP:0001627	HP:0001627	Abnormal heart morphology	0	STAT3 CL E G H	6774	11364	ORPHA:99885	Isolated permanent neonatal diabetes mellitus	HP:0040282 - Frequent		110
HP:0001627	HP:0001627	Abnormal heart morphology	0	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0001627	HP:0001627	Abnormal heart morphology	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0001627	HP:0001627	Abnormal heart morphology	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		99
HP:0001627	HP:0001627	Abnormal heart morphology	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0001627	HP:0001627	Abnormal heart morphology	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		3
HP:0001627	HP:0001627	Abnormal heart morphology	0	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0001627	HP:0001627	Abnormal heart morphology	0	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0001627	HP:0001627	Abnormal heart morphology	0	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome			6
HP:0001627	HP:0001627	Abnormal heart morphology	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0001627	HP:0001627	Abnormal heart morphology	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0001627	HP:0001627	Abnormal heart morphology	0	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome			124
HP:0001627	HP:0001627	Abnormal heart morphology	0	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32			124
HP:0001627	HP:0001627	Abnormal heart morphology	0	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly			124
HP:0001627	HP:0001627	Abnormal heart morphology	0	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0001627	HP:0001627	Abnormal heart morphology	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0001627	HP:0001627	Abnormal heart morphology	0	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0001627	HP:0001627	Abnormal heart morphology	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0001627	HP:0001627	Abnormal heart morphology	0	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0001627	HP:0001627	Abnormal heart morphology	0	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			1129
HP:0001627	HP:0001627	Abnormal heart morphology	0	SYNE1 CL E G H	23345	17089	OMIM:612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant			1129
HP:0001627	HP:0001627	Abnormal heart morphology	0	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			508
HP:0001627	HP:0001627	Abnormal heart morphology	0	SYNE2 CL E G H	23224	17084	OMIM:612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant			508
HP:0001627	HP:0001627	Abnormal heart morphology	0	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2			11
HP:0001627	HP:0001627	Abnormal heart morphology	0	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome			11
HP:0001627	HP:0001627	Abnormal heart morphology	0	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0001627	HP:0001627	Abnormal heart morphology	0	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0001627	HP:0001627	Abnormal heart morphology	0	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40			7
HP:0001627	HP:0001627	Abnormal heart morphology	0	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome			7
HP:0001627	HP:0001627	Abnormal heart morphology	0	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	TAFAZZIN CL E G H	6901	11577	ORPHA:111	Barth syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0001627	HP:0001627	Abnormal heart morphology	0	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0001627	HP:0001627	Abnormal heart morphology	0	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency			34
HP:0001627	HP:0001627	Abnormal heart morphology	0	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration			12
HP:0001627	HP:0001627	Abnormal heart morphology	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0001627	HP:0001627	Abnormal heart morphology	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0001627	HP:0001627	Abnormal heart morphology	0	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0001627	HP:0001627	Abnormal heart morphology	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0001627	HP:0001627	Abnormal heart morphology	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0001627	HP:0001627	Abnormal heart morphology	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0001627	HP:0001627	Abnormal heart morphology	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0001627	HP:0001627	Abnormal heart morphology	0	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome			32
HP:0001627	HP:0001627	Abnormal heart morphology	0	TBX1 CL E G H	6899	11592	OMIM:217095	Conotruncal heart malformations			32
HP:0001627	HP:0001627	Abnormal heart morphology	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0001627	HP:0001627	Abnormal heart morphology	0	TBX1 CL E G H	6899	11592	OMIM:187500	Tetralogy of Fallot			32
HP:0001627	HP:0001627	Abnormal heart morphology	0	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot			32
HP:0001627	HP:0001627	Abnormal heart morphology	0	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0001627	HP:0001627	Abnormal heart morphology	0	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0001627	HP:0001627	Abnormal heart morphology	0	TBX20 CL E G H	57057	11598	OMIM:611363	ATRIAL SEPTAL DEFECT 4; ASD4			20
HP:0001627	HP:0001627	Abnormal heart morphology	0	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type			20
HP:0001627	HP:0001627	Abnormal heart morphology	0	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome			28
HP:0001627	HP:0001627	Abnormal heart morphology	0	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0001627	HP:0001627	Abnormal heart morphology	0	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0001627	HP:0001627	Abnormal heart morphology	0	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0001627	HP:0001627	Abnormal heart morphology	0	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome			123
HP:0001627	HP:0001627	Abnormal heart morphology	0	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome			123
HP:0001627	HP:0001627	Abnormal heart morphology	0	TCAP CL E G H	8557	11610	OMIM:607487	Cardiomyopathy, familial hypertrophic, 25			78
HP:0001627	HP:0001627	Abnormal heart morphology	0	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy			78
HP:0001627	HP:0001627	Abnormal heart morphology	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0001627	HP:0001627	Abnormal heart morphology	0	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis			82
HP:0001627	HP:0001627	Abnormal heart morphology	0	TCOF1 CL E G H	6949	11654	OMIM:154500	Treacher collins-franceschetti syndrome			140
HP:0001627	HP:0001627	Abnormal heart morphology	0	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome			45
HP:0001627	HP:0001627	Abnormal heart morphology	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome			45
HP:0001627	HP:0001627	Abnormal heart morphology	0	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome			76
HP:0001627	HP:0001627	Abnormal heart morphology	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome			76
HP:0001627	HP:0001627	Abnormal heart morphology	0	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8			76
HP:0001627	HP:0001627	Abnormal heart morphology	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18			31
HP:0001627	HP:0001627	Abnormal heart morphology	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome			31
HP:0001627	HP:0001627	Abnormal heart morphology	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		31
HP:0001627	HP:0001627	Abnormal heart morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0001627	HP:0001627	Abnormal heart morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0001627	HP:0001627	Abnormal heart morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		1
HP:0001627	HP:0001627	Abnormal heart morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0001627	HP:0001627	Abnormal heart morphology	0	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2			238
HP:0001627	HP:0001627	Abnormal heart morphology	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0001627	HP:0001627	Abnormal heart morphology	0	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome			104
HP:0001627	HP:0001627	Abnormal heart morphology	0	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3			67
HP:0001627	HP:0001627	Abnormal heart morphology	0	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0001627	HP:0001627	Abnormal heart morphology	0	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome			6
HP:0001627	HP:0001627	Abnormal heart morphology	0	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0001627	HP:0001627	Abnormal heart morphology	0	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0001627	HP:0001627	Abnormal heart morphology	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			162
HP:0001627	HP:0001627	Abnormal heart morphology	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4			162
HP:0001627	HP:0001627	Abnormal heart morphology	0	TGFB3 CL E G H	7043	11769	OMIM:107970	Arrhythmogenic right ventricular dysplasia, familial, 1			85
HP:0001627	HP:0001627	Abnormal heart morphology	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			85
HP:0001627	HP:0001627	Abnormal heart morphology	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0001627	HP:0001627	Abnormal heart morphology	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			239
HP:0001627	HP:0001627	Abnormal heart morphology	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0001627	HP:0001627	Abnormal heart morphology	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			253
HP:0001627	HP:0001627	Abnormal heart morphology	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0001627	HP:0001627	Abnormal heart morphology	0	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome			253
HP:0001627	HP:0001627	Abnormal heart morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0001627	HP:0001627	Abnormal heart morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0001627	HP:0001627	Abnormal heart morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly			32
HP:0001627	HP:0001627	Abnormal heart morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		32
HP:0001627	HP:0001627	Abnormal heart morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0001627	HP:0001627	Abnormal heart morphology	0	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040282 - Frequent		1
HP:0001627	HP:0001627	Abnormal heart morphology	0	THPO CL E G H	7066	11795	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia			23
HP:0001627	HP:0001627	Abnormal heart morphology	0	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	TIAM1 CL E G H	7074	11805	OMIM:619908				2
HP:0001627	HP:0001627	Abnormal heart morphology	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			103
HP:0001627	HP:0001627	Abnormal heart morphology	0	TKFC CL E G H	26007	24552	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0001627	HP:0001627	Abnormal heart morphology	0	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040281 - Very frequent		4
HP:0001627	HP:0001627	Abnormal heart morphology	0	TLL1 CL E G H	7092	11843	OMIM:613087	Atrial septal defect 6			6
HP:0001627	HP:0001627	Abnormal heart morphology	0	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type			6
HP:0001627	HP:0001627	Abnormal heart morphology	0	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type			6
HP:0001627	HP:0001627	Abnormal heart morphology	0	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0001627	HP:0001627	Abnormal heart morphology	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy			23
HP:0001627	HP:0001627	Abnormal heart morphology	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	TMEM126B CL E G H	55863	30883	OMIM:618250	Mitochondrial complex I deficiency, nuclear type 29	.		4
HP:0001627	HP:0001627	Abnormal heart morphology	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0001627	HP:0001627	Abnormal heart morphology	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome			45
HP:0001627	HP:0001627	Abnormal heart morphology	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		45
HP:0001627	HP:0001627	Abnormal heart morphology	0	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0001627	HP:0001627	Abnormal heart morphology	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome			33
HP:0001627	HP:0001627	Abnormal heart morphology	0	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome			82
HP:0001627	HP:0001627	Abnormal heart morphology	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome			82
HP:0001627	HP:0001627	Abnormal heart morphology	0	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	TMEM43 CL E G H	79188	28472	OMIM:604400	Arrhythmogenic right ventricular dysplasia, familial, 5			171
HP:0001627	HP:0001627	Abnormal heart morphology	0	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			171
HP:0001627	HP:0001627	Abnormal heart morphology	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0001627	HP:0001627	Abnormal heart morphology	0	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome			166
HP:0001627	HP:0001627	Abnormal heart morphology	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome			166
HP:0001627	HP:0001627	Abnormal heart morphology	0	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2			63
HP:0001627	HP:0001627	Abnormal heart morphology	0	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0001627	HP:0001627	Abnormal heart morphology	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy			136
HP:0001627	HP:0001627	Abnormal heart morphology	0	TMTC3 CL E G H	160418	26899	ORPHA:98892	Periventricular nodular heterotopia			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis			72
HP:0001627	HP:0001627	Abnormal heart morphology	0	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome			131
HP:0001627	HP:0001627	Abnormal heart morphology	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0001627	HP:0001627	Abnormal heart morphology	0	TNNC1 CL E G H	7134	11943	OMIM:611879	CARDIOMYOPATHY, DILATED, 1Z; CMD1Z			73
HP:0001627	HP:0001627	Abnormal heart morphology	0	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13			73
HP:0001627	HP:0001627	Abnormal heart morphology	0	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy			73
HP:0001627	HP:0001627	Abnormal heart morphology	0	TNNI3 CL E G H	7137	11947	OMIM:613286	Cardiomyopathy, dilated, 1ff			180
HP:0001627	HP:0001627	Abnormal heart morphology	0	TNNI3 CL E G H	7137	11947	OMIM:611880	Cardiomyopathy, dilated, 2A			180
HP:0001627	HP:0001627	Abnormal heart morphology	0	TNNI3 CL E G H	7137	11947	OMIM:613690	Cardiomyopathy, familial hypertrophic, 7			180
HP:0001627	HP:0001627	Abnormal heart morphology	0	TNNI3 CL E G H	7137	11947	OMIM:115210	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1			180
HP:0001627	HP:0001627	Abnormal heart morphology	0	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy			180
HP:0001627	HP:0001627	Abnormal heart morphology	0	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy			180
HP:0001627	HP:0001627	Abnormal heart morphology	0	TNNI3K CL E G H	51086	19661	OMIM:616117	Cardiac conduction disease with or without dilated cardiomyopathy			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D			248
HP:0001627	HP:0001627	Abnormal heart morphology	0	TNNT2 CL E G H	7139	11949	OMIM:115195	Cardiomyopathy, familial hypertrophic, 2			248
HP:0001627	HP:0001627	Abnormal heart morphology	0	TNNT2 CL E G H	7139	11949	OMIM:612422	Cardiomyopathy, familial restrictive, 3			248
HP:0001627	HP:0001627	Abnormal heart morphology	0	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy			248
HP:0001627	HP:0001627	Abnormal heart morphology	0	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy			248
HP:0001627	HP:0001627	Abnormal heart morphology	0	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1			134
HP:0001627	HP:0001627	Abnormal heart morphology	0	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like			134
HP:0001627	HP:0001627	Abnormal heart morphology	0	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0001627	HP:0001627	Abnormal heart morphology	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional		61
HP:0001627	HP:0001627	Abnormal heart morphology	0	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0001627	HP:0001627	Abnormal heart morphology	0	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip			140
HP:0001627	HP:0001627	Abnormal heart morphology	0	TPI1 CL E G H	7167	12009	ORPHA:868	Triose phosphate-isomerase deficiency			28
HP:0001627	HP:0001627	Abnormal heart morphology	0	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0001627	HP:0001627	Abnormal heart morphology	0	TPM1 CL E G H	7168	12010	OMIM:611878	Cardiomyopathy, dilated, 1Y			230
HP:0001627	HP:0001627	Abnormal heart morphology	0	TPM1 CL E G H	7168	12010	OMIM:115196	Cardiomyopathy, familial hypertrophic, 3			230
HP:0001627	HP:0001627	Abnormal heart morphology	0	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy			230
HP:0001627	HP:0001627	Abnormal heart morphology	0	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy			54
HP:0001627	HP:0001627	Abnormal heart morphology	0	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0001627	HP:0001627	Abnormal heart morphology	0	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0001627	HP:0001627	Abnormal heart morphology	0	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			54
HP:0001627	HP:0001627	Abnormal heart morphology	0	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy			108
HP:0001627	HP:0001627	Abnormal heart morphology	0	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0001627	HP:0001627	Abnormal heart morphology	0	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0001627	HP:0001627	Abnormal heart morphology	0	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			108
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome			27
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRDN CL E G H	10345	12261	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1			145
HP:0001627	HP:0001627	Abnormal heart morphology	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0001627	HP:0001627	Abnormal heart morphology	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0001627	HP:0001627	Abnormal heart morphology	0	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations			56
HP:0001627	HP:0001627	Abnormal heart morphology	0	TREX1 CL E G H	11277	12269	OMIM:152700	Systemic lupus erythematosus			56
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30			3
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001627	Abnormal heart morphology	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0001627	HP:0001627	Abnormal heart morphology	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0001627	HP:0001627	Abnormal heart morphology	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0001627	HP:0001627	Abnormal heart morphology	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0001627	HP:0001627	Abnormal heart morphology	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0001627	HP:0001627	Abnormal heart morphology	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0001627	HP:0001627	Abnormal heart morphology	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3			43
HP:0001627	HP:0001627	Abnormal heart morphology	0	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0001627	HP:0001627	Abnormal heart morphology	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001627	Abnormal heart morphology	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001627	HP:0001627	Abnormal heart morphology	0	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0001627	HP:0001627	Abnormal heart morphology	0	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome			26
HP:0001627	HP:0001627	Abnormal heart morphology	0	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8			41
HP:0001627	HP:0001627	Abnormal heart morphology	0	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy			7128
HP:0001627	HP:0001627	Abnormal heart morphology	0	TTN CL E G H	7273	12403	OMIM:604145	CARDIOMYOPATHY, DILATED, 1G; CMD1G			7128
HP:0001627	HP:0001627	Abnormal heart morphology	0	TTN CL E G H	7273	12403	OMIM:613765	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9; CMH9			7128
HP:0001627	HP:0001627	Abnormal heart morphology	0	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy			7128
HP:0001627	HP:0001627	Abnormal heart morphology	0	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy			7128
HP:0001627	HP:0001627	Abnormal heart morphology	0	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy			7128
HP:0001627	HP:0001627	Abnormal heart morphology	0	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency			62
HP:0001627	HP:0001627	Abnormal heart morphology	0	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related			107
HP:0001627	HP:0001627	Abnormal heart morphology	0	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis			107
HP:0001627	HP:0001627	Abnormal heart morphology	0	TTR CL E G H	7276	12405	ORPHA:85447	ATTRV30M amyloidosis			107
HP:0001627	HP:0001627	Abnormal heart morphology	0	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040283 - Occasional		14
HP:0001627	HP:0001627	Abnormal heart morphology	0	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0001627	HP:0001627	Abnormal heart morphology	0	TWIST1 CL E G H	7291	12428	OMIM:101400	Saethre-Chotzen syndrome	.		18
HP:0001627	HP:0001627	Abnormal heart morphology	0	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0001627	HP:0001627	Abnormal heart morphology	0	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0001627	HP:0001627	Abnormal heart morphology	0	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0001627	HP:0001627	Abnormal heart morphology	0	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			113
HP:0001627	HP:0001627	Abnormal heart morphology	0	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0001627	HP:0001627	Abnormal heart morphology	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	TXNL4A CL E G H	10907	30551	ORPHA:1200	Burn-McKeown syndrome			19
HP:0001627	HP:0001627	Abnormal heart morphology	0	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome			19
HP:0001627	HP:0001627	Abnormal heart morphology	0	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency			85
HP:0001627	HP:0001627	Abnormal heart morphology	0	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy			85
HP:0001627	HP:0001627	Abnormal heart morphology	0	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0001627	HP:0001627	Abnormal heart morphology	0	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0001627	HP:0001627	Abnormal heart morphology	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0001627	HP:0001627	Abnormal heart morphology	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0001627	HP:0001627	Abnormal heart morphology	0	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome			25
HP:0001627	HP:0001627	Abnormal heart morphology	0	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency			15
HP:0001627	HP:0001627	Abnormal heart morphology	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria			135
HP:0001627	HP:0001627	Abnormal heart morphology	0	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome			33
HP:0001627	HP:0001627	Abnormal heart morphology	0	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5			17
HP:0001627	HP:0001627	Abnormal heart morphology	0	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001627	HP:0001627	Abnormal heart morphology	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0001627	HP:0001627	Abnormal heart morphology	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0001627	HP:0001627	Abnormal heart morphology	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0001627	HP:0001627	Abnormal heart morphology	0	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20			56
HP:0001627	HP:0001627	Abnormal heart morphology	0	VCL CL E G H	7414	12665	OMIM:611407	CARDIOMYOPATHY, DILATED, 1W; CMD1W			248
HP:0001627	HP:0001627	Abnormal heart morphology	0	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15			248
HP:0001627	HP:0001627	Abnormal heart morphology	0	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy			248
HP:0001627	HP:0001627	Abnormal heart morphology	0	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			63
HP:0001627	HP:0001627	Abnormal heart morphology	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0001627	HP:0001627	Abnormal heart morphology	0	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0001627	HP:0001627	Abnormal heart morphology	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0001627	HP:0001627	Abnormal heart morphology	0	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0001627	HP:0001627	Abnormal heart morphology	0	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0001627	HP:0001627	Abnormal heart morphology	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:0001627	HP:0001627	Abnormal heart morphology	0	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0001627	HP:0001627	Abnormal heart morphology	0	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0001627	HP:0001627	Abnormal heart morphology	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0001627	HP:0001627	Abnormal heart morphology	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0001627	HP:0001627	Abnormal heart morphology	0	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1			533
HP:0001627	HP:0001627	Abnormal heart morphology	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040281 - Very frequent		20
HP:0001627	HP:0001627	Abnormal heart morphology	0	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0001627	HP:0001627	Abnormal heart morphology	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0001627	HP:0001627	Abnormal heart morphology	0	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0001627	HP:0001627	Abnormal heart morphology	0	WDPCP CL E G H	51057	28027	OMIM:217085	Congenital heart defects, hamartomas of tongue, and polysyndactyly			60
HP:0001627	HP:0001627	Abnormal heart morphology	0	WDPCP CL E G H	51057	28027	ORPHA:1338	Heart defect-tongue hamartoma-polysyndactyly syndrome			60
HP:0001627	HP:0001627	Abnormal heart morphology	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0001627	HP:0001627	Abnormal heart morphology	0	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0001627	HP:0001627	Abnormal heart morphology	0	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0001627	HP:0001627	Abnormal heart morphology	0	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome			389
HP:0001627	HP:0001627	Abnormal heart morphology	0	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1			389
HP:0001627	HP:0001627	Abnormal heart morphology	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0001627	HP:0001627	Abnormal heart morphology	0	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome			177
HP:0001627	HP:0001627	Abnormal heart morphology	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001627	HP:0001627	Abnormal heart morphology	0	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome			8
HP:0001627	HP:0001627	Abnormal heart morphology	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0001627	HP:0001627	Abnormal heart morphology	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0001627	HP:0001627	Abnormal heart morphology	0	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0001627	HP:0001627	Abnormal heart morphology	0	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			14
HP:0001627	HP:0001627	Abnormal heart morphology	0	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001627	HP:0001627	Abnormal heart morphology	0	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2			45
HP:0001627	HP:0001627	Abnormal heart morphology	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0001627	HP:0001627	Abnormal heart morphology	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0001627	HP:0001627	Abnormal heart morphology	0	YY1AP1 CL E G H	55249	30935	OMIM:602531	Grange syndrome			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	YY1AP1 CL E G H	55249	30935	ORPHA:79094	Grange syndrome			5
HP:0001627	HP:0001627	Abnormal heart morphology	0	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0001627	HP:0001627	Abnormal heart morphology	0	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome			10
HP:0001627	HP:0001627	Abnormal heart morphology	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0001627	HP:0001627	Abnormal heart morphology	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent		362
HP:0001627	HP:0001627	Abnormal heart morphology	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent		362
HP:0001627	HP:0001627	Abnormal heart morphology	0	ZFP57 CL E G H	346171	18791	ORPHA:99886	Transient neonatal diabetes mellitus	HP:0040283 - Occasional		30
HP:0001627	HP:0001627	Abnormal heart morphology	0	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot			31
HP:0001627	HP:0001627	Abnormal heart morphology	0	ZFPM2 CL E G H	23414	16700	OMIM:187500	Tetralogy of Fallot			31
HP:0001627	HP:0001627	Abnormal heart morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0001627	HP:0001627	Abnormal heart morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0001627	HP:0001627	Abnormal heart morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly			34
HP:0001627	HP:0001627	Abnormal heart morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		34
HP:0001627	HP:0001627	Abnormal heart morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0001627	HP:0001627	Abnormal heart morphology	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0001627	Abnormal heart morphology	0	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked			39
HP:0001627	HP:0001627	Abnormal heart morphology	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0001627	HP:0001627	Abnormal heart morphology	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0001627	HP:0001627	Abnormal heart morphology	0	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0001627	HP:0001627	Abnormal heart morphology	0	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0001627	HP:0001627	Abnormal heart morphology	0	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22			20
HP:0001627	HP:0001627	Abnormal heart morphology	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		20
HP:0001627	HP:0001627	Abnormal heart morphology	0	ZNF423 CL E G H	23090	16762	OMIM:614844	Nephronophthisis 14			49
HP:0001627	HP:0001627	Abnormal heart morphology	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0001627	HP:0001627	Abnormal heart morphology	0	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome			397
HP:0001627	HP:0001627	Abnormal heart morphology	0	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome			397
HP:0001627	HP:0001627	Abnormal heart morphology	0	ZNF687 CL E G H	57592	29277	OMIM:616833	Paget disease of bone 6			2
HP:0001627	HP:0001627	Abnormal heart morphology	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001627	HP:0032580	Abnormal bulbus cordis morphology	1	CL E G H
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8			143
HP:0001627	HP:0001640	Cardiomegaly	1	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8			143
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease			191
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease			191
HP:0001627	HP:0001640	Cardiomegaly	1	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2			415
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2			415
HP:0001627	HP:0001640	Cardiomegaly	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		415
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy			415
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum			415
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum			415
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional		415
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste			415
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			415
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			415
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency			245
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ABCC9 CL E G H	10060	60	OMIM:608569	CARDIOMYOPATHY, DILATED, 1O; CMD1O			254
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy			254
HP:0001627	HP:0001640	Cardiomegaly	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.		254
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0001627	HP:0001640	Cardiomegaly	1	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent		254
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040283 - Occasional		254
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia			67
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia			76
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome			51
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome			51
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome			51
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency			58
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ACAD8 CL E G H	27034	87	OMIM:611283	Isobutyryl-CoA dehydrogenase deficiency			58
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency			98
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency			98
HP:0001627	HP:0001640	Cardiomegaly	1	ACADM CL E G H	34	89	ORPHA:42	Medium chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		197
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of			90
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency			90
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0001627	HP:0001640	Cardiomegaly	1	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			19
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy			96
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			96
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3			96
HP:0001627	HP:0001640	Cardiomegaly	1	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		94
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			94
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome			94
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome			94
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ACTC1 CL E G H	70	143	OMIM:612794	Atrial septal defect 5			208
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ACTC1 CL E G H	70	143	OMIM:612794	Atrial septal defect 5			208
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type			208
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type			208
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type			208
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R			208
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R			208
HP:0001627	HP:0031331	Abnormal cardiomyocyte morphology	1	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R			208
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11			208
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11			208
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11			208
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11			208
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy			208
HP:0001627	HP:0100544	Neoplasm of the heart	1	ACTG2 CL E G H	72	145	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional		23
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction			307
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction			307
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction			307
HP:0001627	HP:0031331	Abnormal cardiomyocyte morphology	1	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction			307
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy			307
HP:0001627	HP:0001640	Cardiomegaly	1	ACTN2 CL E G H	88	164	OMIM:618654	MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; MYOCOZ			307
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal			161
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal			161
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal			161
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal			161
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal			161
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome			22
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome			63
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome			63
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1			63
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1			63
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ADAMTS19 CL E G H	171019	17111	OMIM:620067				1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ADAMTS19 CL E G H	171019	17111	OMIM:620067				1
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome			1
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0001627	HP:0001640	Cardiomegaly	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		116
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ADCY5 CL E G H	111	236	OMIM:619647	DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR			25
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia			25
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia			25
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD			25
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ADORA2A CL E G H	135	263	ORPHA:363549	Acute encephalopathy with biphasic seizures and late reduced diffusion			1
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome	.		6
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome			1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome			1
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	AGK CL E G H	55750	21869	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome			82
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome			82
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III			216
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III			216
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1			85
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	AHCY CL E G H	191	343	OMIM:613752	HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY			31
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency			31
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome			175
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome			175
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3			175
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3			175
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect			175
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	AIP CL E G H	9049	358	ORPHA:963	Acromegaly			95
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1			95
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1			95
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism			95
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism			95
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	AKT3 CL E G H	10000	393	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040282 - Frequent		19
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	AKT3 CL E G H	10000	393	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome			19
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG			58
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik			58
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG			37
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih	.		46
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease			93
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il	.		93
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27			89
HP:0001627	HP:0001640	Cardiomegaly	1	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27	.		89
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27			89
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27			89
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27			89
HP:0001627	HP:0031331	Abnormal cardiomyocyte morphology	1	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27			89
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis			150
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy			95
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	ANKRD11 CL E G H	29123	21316	ORPHA:2332	KBG syndrome	HP:0040283 - Occasional		102
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16			32
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16			32
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16			32
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12			304
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia			356
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay			3
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay			3
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ARF1 CL E G H	375	652	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ARFGEF2 CL E G H	10564	15853	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent		179
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0001627	HP:0001961	Hypoplastic heart	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome			62
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome			62
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	ARL2BP CL E G H	23568	17146	OMIM:615434	Retinitis pigmentosa with or without situs inversus			3
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	ARL2BP CL E G H	23568	17146	OMIM:615434	Retinitis pigmentosa with or without situs inversus			3
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome			1
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia			166
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia			166
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0001627	HP:0001640	Cardiomegaly	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040284 - Very rare		145
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040284 - Very rare		145
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome			5
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome			5
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency			4
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency			4
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.		16
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood			239
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood			150
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ATP5F1E CL E G H	514	838	OMIM:614053	Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ATP5MK CL E G H	84833	30889	OMIM:618683	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type			36
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0001627	HP:0001961	Hypoplastic heart	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach			169
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis			8
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0001627	HP:0001640	Cardiomegaly	1	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		5
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040282 - Frequent		36
HP:0001627	HP:0001961	Hypoplastic heart	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome			28
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome			28
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome			28
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome			28
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome			34
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome			34
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome			34
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome			34
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	BAG3 CL E G H	9531	939	OMIM:613881	Cardiomyopathy, dilated, 1hh			204
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy			204
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6			204
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	BAG5 CL E G H	9529	941	OMIM:619747	CARDIOMYOPATHY, DILATED, 2F; CMD2F
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0001627	HP:0001640	Cardiomegaly	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2			97
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2			97
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2			97
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2			97
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0001627	HP:0001640	Cardiomegaly	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040281 - Very frequent		101
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease			5
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		99
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy			99
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome			13
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome			13
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1			13
HP:0001627	HP:0001640	Cardiomegaly	1	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1	.		13
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1
HP:0001627	HP:0001640	Cardiomegaly	1	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X			385
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1			525
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia			14
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		276
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional		276
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		5769
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		7642
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome			8
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		1086
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked			109
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0001627	HP:0001640	Cardiomegaly	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0001627	HP:0001640	Cardiomegaly	1	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33	.
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14			27
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14			27
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV			27
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV			27
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV			27
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	C4A CL E G H	720	1323	ORPHA:117	Behçet disease			1
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood			449
HP:0001627	HP:0001640	Cardiomegaly	1	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome	HP:0040283 - Occasional		572
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome			572
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome			572
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome			572
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome			572
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities			51
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities			51
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities			51
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome			51
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome			51
HP:0001627	HP:0031331	Abnormal cardiomyocyte morphology	1	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia			247
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	CALCRL CL E G H	10203	16709	OMIM:618773	LYMPHATIC MALFORMATION 8; LMPHM8			3
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15			13
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CALM3 CL E G H	808	1449	OMIM:618782	LONG QT SYNDROME 16; LQT16			16
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CALM3 CL E G H	808	1449	OMIM:618782	LONG QT SYNDROME 16; LQT16			16
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy			118
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy			118
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	CASQ2 CL E G H	845	1513	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1			129
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	CAV3 CL E G H	859	1529	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			148
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CAV3 CL E G H	859	1529	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			148
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome			317
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome			1
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome			1
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome			247
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome			247
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome			147
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	CCDC103 CL E G H	388389	32700	OMIM:614679	Ciliary dyskinesia, primary, 17			36
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	CCDC103 CL E G H	388389	32700	OMIM:614679	Ciliary dyskinesia, primary, 17			36
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation			1
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0001627	HP:0001961	Hypoplastic heart	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2			33
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2			33
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2			33
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14			126
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14			126
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15			182
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15			182
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CCND2 CL E G H	894	1583	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040282 - Frequent		11
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CCND2 CL E G H	894	1583	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome			11
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome			7
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040282 - Frequent		7
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome			7
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations			7
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome			83
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome			83
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome	.		6
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CDH2 CL E G H	1000	1759	OMIM:618920	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma			636
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0001627	HP:0001961	Hypoplastic heart	1	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy			405
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy			405
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome			114
HP:0001627	HP:0001640	Cardiomegaly	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.		114
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly			200
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive			20
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome			5
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome			5
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome			7
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome			7
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect			7
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome			342
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome			342
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4			342
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4			342
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4			342
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome			90
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome			90
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect			90
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal			17
HP:0001627	HP:0001961	Hypoplastic heart	1	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal			17
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal			17
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal			17
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal			17
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal			17
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal			17
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal			17
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal			13
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal			13
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal			13
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal			13
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal			13
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal			13
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		515
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type			53
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome			4
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome			4
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome			4
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome			4
HP:0001627	HP:0001961	Hypoplastic heart	1	CHRNA1 CL E G H	1134	1955	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		74
HP:0001627	HP:0001961	Hypoplastic heart	1	CHRND CL E G H	1144	1965	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		88
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			68
HP:0001627	HP:0001961	Hypoplastic heart	1	CHRNG CL E G H	1146	1967	OMIM:253290	Multiple pterygium syndrome, Lethal type	.		68
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040283 - Occasional		27
HP:0001627	HP:0001640	Cardiomegaly	1	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		165
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome			3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0001961	Hypoplastic heart	1	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome			3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CITED2 CL E G H	10370	1987	OMIM:614433	ATRIAL SEPTAL DEFECT 8; ASD8			5
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CITED2 CL E G H	10370	1987	OMIM:614433	ATRIAL SEPTAL DEFECT 8; ASD8			5
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type			5
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type			5
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type			5
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type			5
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot			5
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CITED2 CL E G H	10370	1987	OMIM:614431	Ventricular septal defect 2			5
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CITED2 CL E G H	10370	1987	OMIM:614431	Ventricular septal defect 2			5
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome			7
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome			7
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome			7
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome			7
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome			27
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	CLEC7A CL E G H	64581	14558	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		3
HP:0001627	HP:0001640	Cardiomegaly	1	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0001627	HP:0001640	Cardiomegaly	1	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040282 - Frequent		4
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome			4
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0001627	HP:0001640	Cardiomegaly	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3			216
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7			38
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	COA5 CL E G H	493753	33848	OMIM:616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3			2
HP:0001627	HP:0031331	Abnormal cardiomyocyte morphology	1	COA5 CL E G H	493753	33848	OMIM:616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3			2
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4			8
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome			177
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1			373
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1			373
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I			373
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040281 - Very frequent		243
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form			243
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1			284
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent		749
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form			263
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes			90
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1			54
HP:0001627	HP:0001640	Cardiomegaly	1	COQ2 CL E G H	27235	25223	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040283 - Occasional		54
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7			24
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7			24
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7			24
HP:0001627	HP:0001961	Hypoplastic heart	1	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7			24
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7			24
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5			44
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10			4
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	COX15 CL E G H	1355	2263	OMIM:615119	Mitochondrial complex IV deficiency, nuclear type 6			104
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001640	Cardiomegaly	1	COX5A CL E G H	9377	2267	OMIM:619064	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 20; MC4DN20
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0001627	HP:0001640	Cardiomegaly	1	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		6
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7			6
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7			6
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7			6
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7			6
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0001627	HP:0001961	Hypoplastic heart	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency			99
HP:0001627	HP:0001640	Cardiomegaly	1	CPT1A CL E G H	1374	2328	OMIM:255120	Carnitine palmitoyltransferase I deficiency	.		99
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040283 - Occasional		101
HP:0001627	HP:0001640	Cardiomegaly	1	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040283 - Occasional		101
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form			101
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form			101
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile			101
HP:0001627	HP:0001640	Cardiomegaly	1	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile			101
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0001627	HP:0001640	Cardiomegaly	1	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.		101
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CRB2 CL E G H	286204	18688	OMIM:219730	Ventriculomegaly with cystic kidney disease			12
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CRB2 CL E G H	286204	18688	OMIM:219730	Ventriculomegaly with cystic kidney disease			12
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001627	HP:0001961	Hypoplastic heart	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CRELD1 CL E G H	78987	14630	OMIM:606217	Atrioventricular septal defect, susceptibility to, 2			19
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	CRELD1 CL E G H	78987	14630	OMIM:606217	Atrioventricular septal defect, susceptibility to, 2			19
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy			46
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	CRYAB CL E G H	1410	2389	OMIM:615184	Cardiomyopathy, dilated, 1ii			46
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy			46
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2			46
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome			57
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome			57
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome			57
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome			57
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	CSRP3 CL E G H	8048	2472	OMIM:607482	CARDIOMYOPATHY, DILATED, 1M; CMD1M			104
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	CSRP3 CL E G H	8048	2472	OMIM:607482	CARDIOMYOPATHY, DILATED, 1M; CMD1M			104
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	CSRP3 CL E G H	8048	2472	OMIM:612124	Cardiomyopathy, familial hypertrophic, 12			104
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CSRP3 CL E G H	8048	2472	OMIM:612124	Cardiomyopathy, familial hypertrophic, 12			104
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CSRP3 CL E G H	8048	2472	OMIM:612124	Cardiomyopathy, familial hypertrophic, 12			104
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy			104
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis			10
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	CTLA4 CL E G H	1493	2505	OMIM:152700	Systemic lupus erythematosus			10
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CTNNA3 CL E G H	29119	2511	OMIM:615616	Arrhythmogenic right ventricular dysplasia, familial, 13			98
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome			1
HP:0001627	HP:0001961	Hypoplastic heart	1	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome			1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome			1
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS			92
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS			92
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome			9
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis			114
HP:0001627	HP:0001640	Cardiomegaly	1	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040283 - Occasional
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1			102
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant			2
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	DCHS1 CL E G H	8642	13681	OMIM:607829	Mitral valve prolapse, myxomatous 2			27
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome			13
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome			13
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome			13
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102			57
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DES CL E G H	1674	2770	OMIM:604765	CARDIOMYOPATHY, DILATED, 1I; CMD1I			263
HP:0001627	HP:0001640	Cardiomegaly	1	DES CL E G H	1674	2770	OMIM:604765	CARDIOMYOPATHY, DILATED, 1I; CMD1I			263
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy			263
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy			263
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1			263
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly			22
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency			89
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency			89
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly			3
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6			9
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6			9
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DMD CL E G H	1756	2928	OMIM:302045	Cardiomyopathy, dilated, 3B			1496
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy			1496
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy			1496
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy			1496
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DMD CL E G H	1756	2928	OMIM:300376	Muscular dystrophy, Becker type			1496
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy			152
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13			116
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13			116
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10			78
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10			78
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2			63
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2			63
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25			27
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25			27
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18			62
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18			62
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	DNAAF6 CL E G H	139212	28570	OMIM:300991	Ciliary dyskinesia, primary, 36, X-linked
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	DNAAF6 CL E G H	139212	28570	OMIM:300991	Ciliary dyskinesia, primary, 36, X-linked
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	DNAH1 CL E G H	25981	2940	OMIM:617577	Ciliary dyskinesia, primary, 37			21
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	DNAH1 CL E G H	25981	2940	OMIM:617577	Ciliary dyskinesia, primary, 37			21
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7			542
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7			542
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3			527
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3			527
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40			18
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40			18
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40			18
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1			73
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1			73
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9			104
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9			104
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V			25
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1			5
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0001627	HP:0001640	Cardiomegaly	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16			167
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16			167
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	DNASE1 CL E G H	1773	2956	OMIM:152700	Systemic lupus erythematosus			3
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040283 - Occasional		3
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis			3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome			44
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome			44
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0001627	HP:0001640	Cardiomegaly	1	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im			55
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0001627	HP:0031331	Abnormal cardiomyocyte morphology	1	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy			55
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7	.
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair			3
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair			3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG			9
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DPM3 CL E G H	54344	3007	OMIM:612937	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15			9
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11			268
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11			268
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2			13
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2			13
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2			13
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040283 - Occasional		13
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DSG1 CL E G H	1828	3048	OMIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige			16
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DSG1 CL E G H	1828	3048	OMIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige			16
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10			358
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10			358
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DSG2 CL E G H	1829	3049	OMIM:612877	CARDIOMYOPATHY, DILATED, 1BB; CMD1BB			358
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy			358
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DSP CL E G H	1832	3052	OMIM:607450	Arrhythmogenic right ventricular dysplasia, familial, 8			747
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DSP CL E G H	1832	3052	OMIM:607450	Arrhythmogenic right ventricular dysplasia, familial, 8			747
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma			747
HP:0001627	HP:0031331	Abnormal cardiomyocyte morphology	1	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma			747
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis			747
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DSP CL E G H	1832	3052	ORPHA:65282	Carvajal syndrome			747
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy			747
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder			747
HP:0001627	HP:0001640	Cardiomegaly	1	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional		747
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1			163
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1			163
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1			163
HP:0001627	HP:0001961	Hypoplastic heart	1	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1			163
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1			163
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0001627	HP:0001961	Hypoplastic heart	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		7
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome			7
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome			7
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome			7
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome			7
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome			7
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly			7
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0001627	HP:0001640	Cardiomegaly	1	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2	HP:0040283 - Occasional		600
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2			600
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	DZIP1 CL E G H	22873	20908	OMIM:610840	MITRAL VALVE PROLAPSE 3; MVP3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction			13
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction			13
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction			13
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia			3
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1			45
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease			257
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040282 - Frequent		223
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion			223
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis			40
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0001627	HP:0001640	Cardiomegaly	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ELAC2 CL E G H	60528	14198	OMIM:615440	Combined oxidative phosphorylation deficiency 17			67
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1			172
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1			172
HP:0001627	HP:0001640	Cardiomegaly	1	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		172
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			172
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0001627	HP:0001640	Cardiomegaly	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1			151
HP:0001627	HP:0001640	Cardiomegaly	1	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1			151
HP:0001627	HP:0001640	Cardiomegaly	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		151
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy			151
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum			151
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum			151
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional		151
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4			4
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4			4
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4			4
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001627	HP:0001961	Hypoplastic heart	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis			51
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome			170
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome			40
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7			3
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7			3
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7			3
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease			1
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2			12
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2			12
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2			12
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		158
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q			158
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q			158
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3			199
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3			55
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ERMARD CL E G H	55780	21056	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent		36
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ESPN CL E G H	83715	13281	OMIM:618632	USHER SYNDROME, TYPE 1M; USH1M			33
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		209
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome			209
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome			209
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome			209
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome			209
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome			209
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome			209
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome			209
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		137
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome			137
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome			137
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome			137
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome			137
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome			137
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome			137
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome			137
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome			102
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome			102
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome			102
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome			102
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	EYA4 CL E G H	2070	3522	OMIM:605362	Cardiomyopathy, dilated, 1J			111
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	EYA4 CL E G H	2070	3522	ORPHA:217622	Sensorineural deafness with dilated cardiomyopathy			111
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FADD CL E G H	8772	3573	ORPHA:306550	FADD-related immunodeficiency			3
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FADD CL E G H	8772	3573	ORPHA:306550	FADD-related immunodeficiency			3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS			3
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS			3
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome			15
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		340
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		58
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked			58
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked			58
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked			58
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		410
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		147
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		73
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		87
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		73
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		157
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I			157
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I			157
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I			157
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		53
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		107
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional		59
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	FAS CL E G H	355	11920	ORPHA:117	Behçet disease			59
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44			122
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome			114
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1			63
HP:0001627	HP:0001640	Cardiomegaly	1	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		1361
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			1361
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2			1361
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FBN1 CL E G H	2200	3603	OMIM:604308	MASS SYNDROME			1361
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome			1361
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent		1361
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS			1361
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome			1361
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome			1361
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly			655
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)			384
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	FCGR2A CL E G H	2212	3616	OMIM:152700	Systemic lupus erythematosus			6
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	FCGR2B CL E G H	2213	3618	OMIM:152700	Systemic lupus erythematosus			2
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly			17
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis			172
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis			172
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis			172
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis			172
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly			172
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			175
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			175
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome			175
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome			175
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1			145
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1			145
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2			145
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2			145
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset			68
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy			68
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome			68
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome			68
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy			36
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FHOD3 CL E G H	80206	26178	OMIM:619402	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0001627	HP:4000001	Abnormal cardiac magnetic resonance imaging finding	1	FHOD3 CL E G H	80206	26178	OMIM:619402	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FHOD3 CL E G H	80206	26178	OMIM:619402	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001627	HP:0001640	Cardiomegaly	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		111
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0001627	HP:0001640	Cardiomegaly	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			157
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9			157
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5			157
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5			157
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X			184
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type			184
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy			184
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4			184
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4			184
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4			184
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4			184
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FLAD1 CL E G H	80308	24671	OMIM:255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency			18
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0001627	HP:0001961	Hypoplastic heart	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked			493
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia			493
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia			493
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FLNA CL E G H	2316	3754	OMIM:300049	Heterotopia, periventricular, X-linked dominant			493
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FLNA CL E G H	2316	3754	ORPHA:2484	Melnick-Needles syndrome	HP:0040282 - Frequent		493
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FLNA CL E G H	2316	3754	ORPHA:99811	Neuronal intestinal pseudoobstruction	HP:0040282 - Frequent		493
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent		493
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent		493
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FLNA CL E G H	2316	3754	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent		493
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome			233
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome			233
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome			233
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26			197
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26			197
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement			197
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy			197
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy			197
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4			197
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FLT4 CL E G H	2324	3767	OMIM:618780	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7			90
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	FLT4 CL E G H	2324	3767	OMIM:618780	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7			90
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot			90
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FMN2 CL E G H	56776	14074	OMIM:616193	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47			44
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome			30
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome			30
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers			30
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93			1
HP:0001627	HP:0001640	Cardiomegaly	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3			63
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3			63
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0001627	HP:0001640	Cardiomegaly	1	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		23
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			23
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0001961	Hypoplastic heart	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0001627	HP:0001961	Hypoplastic heart	1	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly			48
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19			61
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies			198
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria			65
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria			65
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath			70
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath			70
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath			70
HP:0001627	HP:0001640	Cardiomegaly	1	FUCA1 CL E G H	2517	4006	ORPHA:349	Fucosidosis	HP:0040283 - Occasional		43
HP:0001627	HP:0001640	Cardiomegaly	1	FUCA1 CL E G H	2517	4006	OMIM:230000	FUCOSIDOSIS	.		43
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	FUT8 CL E G H	2530	4019	OMIM:618005	Congenital disorder of glycosylation with defective fucosylation 1	HP:0040284 - Very rare		3
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia			18
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1			18
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset			407
HP:0001627	HP:0001640	Cardiomegaly	1	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040281 - Very frequent		407
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset			407
HP:0001627	HP:0001640	Cardiomegaly	1	GAA CL E G H	2548	4065	OMIM:232300	Glycogen storage disease II	.		407
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	GALNS CL E G H	2588	4122	OMIM:253000	Morquio syndrome A	.		123
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease			6
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly			2
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040282 - Frequent		87
HP:0001627	HP:0001961	Hypoplastic heart	1	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GATA4 CL E G H	2626	4173	OMIM:607941	Atrial septal defect 2			87
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GATA4 CL E G H	2626	4173	OMIM:607941	Atrial septal defect 2			87
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	GATA4 CL E G H	2626	4173	OMIM:607941	Atrial septal defect 2			87
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GATA4 CL E G H	2626	4173	OMIM:607941	Atrial septal defect 2			87
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type			87
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type			87
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type			87
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GATA4 CL E G H	2626	4173	OMIM:614430	Atrioventricular septal defect 4			87
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GATA4 CL E G H	2626	4173	OMIM:614430	Atrioventricular septal defect 4			87
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease			87
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GATA4 CL E G H	2626	4173	OMIM:187500	Tetralogy of Fallot			87
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot			87
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GATA4 CL E G H	2626	4173	OMIM:614429	Ventricular septal defect 1			87
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GATA4 CL E G H	2626	4173	OMIM:614429	Ventricular septal defect 1			87
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GATA4 CL E G H	2626	4173	OMIM:614429	Ventricular septal defect 1			87
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GATA4 CL E G H	2626	4173	OMIM:614429	Ventricular septal defect 1			87
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5			10
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5			10
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5			10
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5			10
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5			10
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5			10
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5			10
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	GATA5 CL E G H	140628	15802	ORPHA:402075	Familial bicuspid aortic valve			10
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GATA5 CL E G H	140628	15802	ORPHA:402075	Familial bicuspid aortic valve			10
HP:0001627	HP:0001961	Hypoplastic heart	1	GATA5 CL E G H	140628	15802	ORPHA:402075	Familial bicuspid aortic valve			10
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	GATA5 CL E G H	140628	15802	ORPHA:402075	Familial bicuspid aortic valve			10
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot			10
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9			37
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9			37
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9			37
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type			37
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type			37
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type			37
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GATA6 CL E G H	2627	4174	OMIM:614474	Atrioventricular septal defect 5			37
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GATA6 CL E G H	2627	4174	OMIM:614474	Atrioventricular septal defect 5			37
HP:0001627	HP:0001961	Hypoplastic heart	1	GATA6 CL E G H	2627	4174	OMIM:614474	Atrioventricular septal defect 5			37
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	GATA6 CL E G H	2627	4174	OMIM:614474	Atrioventricular septal defect 5			37
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GATA6 CL E G H	2627	4174	OMIM:217095	Conotruncal heart malformations			37
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GATA6 CL E G H	2627	4174	OMIM:217095	Conotruncal heart malformations			37
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	GATA6 CL E G H	2627	4174	OMIM:217095	Conotruncal heart malformations			37
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GATA6 CL E G H	2627	4174	OMIM:187500	Tetralogy of Fallot			37
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot			37
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GATAD1 CL E G H	57798	29941	OMIM:614672	Cardiomyopathy, dilated, 2B			35
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy			35
HP:0001627	HP:0001640	Cardiomegaly	1	GATB CL E G H	5188	8849	OMIM:618838	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 41; COXPD41
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42			1
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040283 - Occasional
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040283 - Occasional
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0001627	HP:0001640	Cardiomegaly	1	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0001627	HP:0001640	Cardiomegaly	1	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC	.
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV			86
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6			28
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6			28
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6			28
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6			28
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6			28
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot			28
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome			7
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome			7
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome			64
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome			64
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3			68
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3			68
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3			68
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome			68
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome			68
HP:0001627	HP:0001961	Hypoplastic heart	1	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome			68
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome			68
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome			68
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome			68
HP:0001627	HP:0001961	Hypoplastic heart	1	GJA1 CL E G H	2697	4274	OMIM:241550	HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1			68
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	GJA1 CL E G H	2697	4274	OMIM:241550	HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1			68
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GJA5 CL E G H	2702	4279	OMIM:108770	Atrial standstill 1			39
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	GJA5 CL E G H	2702	4279	OMIM:108770	Atrial standstill 1			39
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot			39
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040283 - Occasional		291
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease			291
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease			291
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040283 - Occasional		291
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1			120
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I	.		120
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome			1
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome			1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome			1
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome			1
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly			173
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome			270
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome			270
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia			17
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			34
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19			34
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19			34
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14			34
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy			36
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy			36
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001627	HP:0001961	Hypoplastic heart	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome			7
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome			7
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	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:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	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:0001627	HP:0001637	Abnormal myocardium morphology	1	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy			173
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0001627	HP:0001640	Cardiomegaly	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.		240
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1			99
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1			99
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1			99
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly			5
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome			5
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy			108
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy			108
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy			5
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy			5
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis			53
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GSN CL E G H	2934	4620	OMIM:105120	Amyloidosis, Finnish type			53
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001640	Cardiomegaly	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001640	Cardiomegaly	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001640	Cardiomegaly	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23			30
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23			30
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GTPBP3 CL E G H	84705	14880	OMIM:616198	Combined oxidative phosphorylation deficiency 23			30
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.		54
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency			18
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency			18
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency			18
HP:0001627	HP:0031331	Abnormal cardiomyocyte morphology	1	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency			18
HP:0001627	HP:0031331	Abnormal cardiomyocyte morphology	1	GYG1 CL E G H	2992	4699	OMIM:613507	Glycogen storage disease XV			18
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	GYS1 CL E G H	2997	4706	OMIM:611556	Glycogen storage disease 0, muscle			52
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	GYS1 CL E G H	2997	4706	OMIM:611556	Glycogen storage disease 0, muscle			52
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	GYS1 CL E G H	2997	4706	OMIM:611556	Glycogen storage disease 0, muscle			52
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0001627	HP:0001640	Cardiomegaly	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0001627	HP:0001961	Hypoplastic heart	1	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1			2
HP:0001627	HP:0001961	Hypoplastic heart	1	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1			2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1			2
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	HACD1 CL E G H	9200	9639	OMIM:619967				2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	HACD1 CL E G H	9200	9639	OMIM:619967				2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency			41
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency			41
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency			99
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HADHA CL E G H	3030	4801	OMIM:609016	Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency			99
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2			15
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B			15
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy			2
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis			200
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis			88
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0001627	HP:0001640	Cardiomegaly	1	HBB CL E G H	3043	4827	OMIM:603903	Sickle cell anemia	.		580
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		11
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7			11
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7			11
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7			11
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7			11
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2			185
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2			185
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2			185
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome			33
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive			10
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive			10
HP:0001627	HP:0001640	Cardiomegaly	1	HEXB CL E G H	3074	4879	OMIM:268800	Sandhoff disease	.		80
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0001627	HP:0001640	Cardiomegaly	1	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1			38
HP:0001627	HP:0001640	Cardiomegaly	1	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1	.		38
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1			38
HP:0001627	HP:0001640	Cardiomegaly	1	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional		38
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria	HP:0040282 - Frequent		77
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria			77
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	HIBCH CL E G H	26275	4908	OMIM:250620	3-Hydroxyisobutyryl-Coa hydrolase deficiency			32
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency			32
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional		4
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease			4
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis			4
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HLA-B CL E G H	3106	4932	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional		4
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis			4
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent		4
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional		4
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis			1
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			31
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			5
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0001627	HP:0001654	Abnormal heart valve morphology	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:0001627	HP:0001671	Abnormal cardiac septum morphology	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:0001627	HP:0001713	Abnormal cardiac ventricle morphology	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:0001627	HP:0005120	Abnormal cardiac atrium morphology	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:0001627	HP:0001654	Abnormal heart valve morphology	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:0001627	HP:0001671	Abnormal cardiac septum morphology	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:0001627	HP:0001713	Abnormal cardiac ventricle morphology	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:0001627	HP:0005120	Abnormal cardiac atrium morphology	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:0001627	HP:0001671	Abnormal cardiac septum morphology	1	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040282 - Frequent		39
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome			11
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome			11
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	HOXD13 CL E G H	3239	5136	ORPHA:887	VACTERL/VATER association	HP:0040282 - Frequent		25
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1			121
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess			14
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0001627	HP:0001640	Cardiomegaly	1	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional		19
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HSD17B10 CL E G H	3028	4800	ORPHA:391457	HSD10 disease, neonatal type			19
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease			19
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome			31
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome			31
HP:0001627	HP:0001640	Cardiomegaly	1	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	IDH2 CL E G H	3418	5383	OMIM:613657	D-2-hydroxyglutaric aciduria 2			29
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040282 - Frequent		86
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040282 - Frequent		86
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.		86
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040281 - Very frequent		115
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome			115
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome	HP:0040281 - Very frequent		115
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0001627	HP:0001640	Cardiomegaly	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		28
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0001627	HP:0001640	Cardiomegaly	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.		28
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0001627	HP:0100544	Neoplasm of the heart	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0001627	HP:0100544	Neoplasm of the heart	1	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional		60
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease			60
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease			148
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly			48
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly			48
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly			2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome			5
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome			5
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome			9
HP:0001627	HP:0001640	Cardiomegaly	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.		9
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	IKZF1 CL E G H	10320	13176	ORPHA:36426	Stevens-Johnson syndrome	HP:0040283 - Occasional		8
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease			2
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis			31
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent		31
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional		31
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	IL17F CL E G H	112744	16404	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		14
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	IL17RA CL E G H	23765	5985	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		196
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	IL17RC CL E G H	84818	18358	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		4
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease			1
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			2
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome			111
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome			111
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect			111
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2			106
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2			106
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease			1
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease			1
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip			99
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip			99
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1			51
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35			8
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE			257
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE			257
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE			257
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot			257
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	JAG1 CL E G H	182	6188	OMIM:187500	Tetralogy of Fallot			257
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts			4
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts			4
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	JPH2 CL E G H	57158	14202	OMIM:619492	CARDIOMYOPATHY, DILATED, 2E; CMD2E			111
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	JPH2 CL E G H	57158	14202	OMIM:619492	CARDIOMYOPATHY, DILATED, 2E; CMD2E			111
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	JPH2 CL E G H	57158	14202	OMIM:613873	Cardiomyopathy, familial hypertrophic, 17			111
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	JPH2 CL E G H	57158	14202	OMIM:613873	Cardiomyopathy, familial hypertrophic, 17			111
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	JUP CL E G H	3728	6207	OMIM:611528	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12			222
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	JUP CL E G H	3728	6207	OMIM:611528	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12			222
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder			222
HP:0001627	HP:0001640	Cardiomegaly	1	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional		222
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease			222
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease			222
HP:0001627	HP:0001640	Cardiomegaly	1	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease	.		222
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease			222
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome			141
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome			141
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome			141
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant			141
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			10
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			10
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy			80
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy			145
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy			145
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome			5
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome			13
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome			13
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1			13
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency			127
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome			193
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome			128
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III			128
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0001627	HP:0001640	Cardiomegaly	1	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040281 - Very frequent		23
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040283 - Occasional		23
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome			730
HP:0001627	HP:0001640	Cardiomegaly	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.		730
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome			1
HP:0001627	HP:0001640	Cardiomegaly	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.		1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent		53
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot			40
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome			24
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome			24
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly			24
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly			24
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	KIF20A CL E G H	10112	9787	OMIM:619433	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome			167
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome	.		167
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy			13
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent		660
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		196
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2			196
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis			196
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome			196
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome			196
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome			196
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome			196
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome			196
HP:0001627	HP:0001961	Hypoplastic heart	1	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2			5
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2			5
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy			411
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			116
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LAMA4 CL E G H	3910	6484	OMIM:615235	Cardiomyopathy, dilated, 1jj			279
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy			279
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes			92
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			167
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			135
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease			211
HP:0001627	HP:0001640	Cardiomegaly	1	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease	.		211
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LAMP2 CL E G H	3920	6501	ORPHA:34587	Glycogen storage disease due to LAMP-2 deficiency			211
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome			16
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome			16
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia			54
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia			54
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction			286
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction			286
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction			286
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy			286
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type			286
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4			286
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia			2157
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia			73
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures			31
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0001627	HP:0001640	Cardiomegaly	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W			10
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy			645
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LMNA CL E G H	4000	6636	OMIM:115200	Cardiomyopathy, dilated, 1A			645
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	LMNA CL E G H	4000	6636	OMIM:115200	Cardiomyopathy, dilated, 1A			645
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LMNA CL E G H	4000	6636	ORPHA:2229	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome			645
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant			645
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LMNA CL E G H	4000	6636	ORPHA:300751	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	HP:0040282 - Frequent		645
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	LMNA CL E G H	4000	6636	ORPHA:300751	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation			645
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy			645
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type			645
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LMNA CL E G H	4000	6636	ORPHA:168796	Heart-hand syndrome, Slovenian type			645
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LMNA CL E G H	4000	6636	OMIM:610140	Heart-hand syndrome, Slovenian type			645
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome			645
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome			645
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LMNA CL E G H	4000	6636	OMIM:212112	Malouf syndrome			645
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0001627	HP:0100544	Neoplasm of the heart	1	LMOD1 CL E G H	25802	6647	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0001627	HP:0031331	Abnormal cardiomyocyte morphology	1	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10			6
HP:0001627	HP:0001640	Cardiomegaly	1	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		6
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			6
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome			125
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome			125
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0001627	HP:0001640	Cardiomegaly	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome			123
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome			123
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature			12
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC			92
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC			92
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy			92
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome			239
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17			4
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17			4
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome			43
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MAP1B CL E G H	4131	6836	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		134
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		178
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome			178
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MAP3K7 CL E G H	6885	6859	ORPHA:3238	Cardiospondylocarpofacial syndrome			11
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1			21
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1			21
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1			21
HP:0001627	HP:0001640	Cardiomegaly	1	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		13
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			13
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency			94
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent		3
HP:0001627	HP:0001961	Hypoplastic heart	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome			228
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome			228
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome			228
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome			228
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome			228
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects			74
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects			74
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects			74
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18			25
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18			25
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18			25
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional		43
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional		281
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease			281
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever			281
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE			281
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome			281
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome			7
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome			7
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome			7
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism			462
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism			462
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome			5
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome			5
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive			5
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive			5
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001640	Cardiomegaly	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MFAP5 CL E G H	8076	29673	OMIM:616166	AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9			11
HP:0001627	HP:0001640	Cardiomegaly	1	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		11
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			11
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11			11
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome			11
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome			33
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome			33
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome			33
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome			33
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MIB1 CL E G H	57534	21086	OMIM:615092	Left ventricular noncompaction 7			28
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis			1
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31			7
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MIR17HG CL E G H	407975	23564	ORPHA:391646	Feingold syndrome type 2			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MIR17HG CL E G H	407975	23564	ORPHA:391646	Feingold syndrome type 2			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome			69
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome			69
HP:0001627	HP:0001961	Hypoplastic heart	1	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome			69
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome			69
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome			69
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome			69
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome			127
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome			127
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect			127
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome			127
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome			127
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.		127
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome			1819
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome			131
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040281 - Very frequent
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040283 - Occasional
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001640	Cardiomegaly	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	MNS1 CL E G H	55329	29636	OMIM:618948	HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	MNS1 CL E G H	55329	29636	OMIM:618948	HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0001627	HP:0001640	Cardiomegaly	1	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional		37
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MPL CL E G H	4352	7217	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia	HP:0040283 - Occasional		97
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive			9
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive			9
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency			26
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16			13
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5			25
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome			2162
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome			2232
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip			12
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip			12
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15			29
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15			29
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10			39
HP:0001627	HP:0001640	Cardiomegaly	1	MTTP CL E G H	4547	7467	ORPHA:14	Abetalipoproteinemia	HP:0040284 - Very rare		81
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4			1143
HP:0001627	HP:0001640	Cardiomegaly	1	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4	.		1143
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4			1143
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4			1143
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4			1143
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4			1143
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy			1143
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10			1143
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1			35
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1			35
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1			35
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4			418
HP:0001627	HP:0001640	Cardiomegaly	1	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection	HP:0040282 - Frequent		418
HP:0001627	HP:0001640	Cardiomegaly	1	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		418
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			418
HP:0001627	HP:0100544	Neoplasm of the heart	1	MYH11 CL E G H	4629	7569	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional		418
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome			166
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MYH6 CL E G H	4624	7576	OMIM:614089	ATRIAL SEPTAL DEFECT 3; ASD3			452
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MYH6 CL E G H	4624	7576	OMIM:614089	ATRIAL SEPTAL DEFECT 3; ASD3			452
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type			452
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type			452
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type			452
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MYH6 CL E G H	4624	7576	OMIM:613252	Cardiomyopathy, dilated, 1ee			452
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MYH6 CL E G H	4624	7576	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			452
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MYH6 CL E G H	4624	7576	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			452
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MYH6 CL E G H	4624	7576	OMIM:613251	Cardiomyopathy, familial hypertrophic, 14			452
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MYH6 CL E G H	4624	7576	OMIM:613251	Cardiomyopathy, familial hypertrophic, 14			452
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy			452
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MYH7 CL E G H	4625	7577	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			1269
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MYH7 CL E G H	4625	7577	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			1269
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve			1269
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve	HP:0040282 - Frequent		1269
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve	HP:0040283 - Occasional		1269
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve			1269
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy			1269
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy			1269
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MYH7 CL E G H	4625	7577	ORPHA:437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	HP:0040283 - Occasional		1269
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1269
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1			1269
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1			1269
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive			1269
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive			1269
HP:0001627	HP:0100544	Neoplasm of the heart	1	MYH8 CL E G H	4626	7578	OMIM:608837	CARNEY COMPLEX VARIANT			93
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10			131
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10			131
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10			131
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8			95
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8			95
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8			95
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8			95
HP:0001627	HP:0001640	Cardiomegaly	1	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		326
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			326
HP:0001627	HP:0100544	Neoplasm of the heart	1	MYLK CL E G H	4638	7590	ORPHA:2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	HP:0040283 - Occasional		326
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MYLK2 CL E G H	85366	16243	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			124
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MYLK2 CL E G H	85366	16243	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			124
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.		5
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism			5
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL			3
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL			3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL			3
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL			3
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL			3
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy			75
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY			75
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16			81
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16			81
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy			217
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MYPN CL E G H	84665	23246	OMIM:615248	Cardiomyopathy, dilated, 1kk			217
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MYPN CL E G H	84665	23246	OMIM:615248	Cardiomyopathy, dilated, 1kk			217
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MYPN CL E G H	84665	23246	OMIM:615248	Cardiomyopathy, dilated, 1kk			217
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy			217
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy			217
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy			217
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy			217
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive			217
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0001627	HP:0001961	Hypoplastic heart	1	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0001627	HP:0001640	Cardiomegaly	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome			23
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome			23
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0001627	HP:0001961	Hypoplastic heart	1	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1			47
HP:0001627	HP:0001640	Cardiomegaly	1	NAGA CL E G H	4668	7631	ORPHA:79280	Alpha-N-acetylgalactosaminidase deficiency type 2	HP:0040282 - Frequent		47
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NAGA CL E G H	4668	7631	ORPHA:79281	Alpha-N-acetylgalactosaminidase deficiency type 3			47
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0001627	HP:0001640	Cardiomegaly	1	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.		72
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2			25
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0001627	HP:0001640	Cardiomegaly	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly			96
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			96
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			96
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFA10 CL E G H	4705	7684	OMIM:618243	Mitochondrial complex I deficiency, nuclear type 22			91
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14			32
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14			32
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFA2 CL E G H	4695	7685	OMIM:618235	Mitochondrial complex I deficiency, nuclear type 13			19
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11			40
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15			50
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFB11 CL E G H	54539	20372	OMIM:300952	Linear skin defects with multiple congenital anomalies 3			3
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		3
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7			3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7			3
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7			3
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7			3
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001627	HP:0001640	Cardiomegaly	1	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0001627	HP:0001640	Cardiomegaly	1	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6			65
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NDUFV2 CL E G H	4729	7717	OMIM:618229	Mitochondrial complex I deficiency, nuclear type 7			27
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy			745
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy			745
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip			4
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip			4
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	NEDD4L CL E G H	23327	7728	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent		30
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2			101
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2			43
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2			43
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2			43
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy			9
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy			9
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy			9
HP:0001627	HP:0001640	Cardiomegaly	1	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10	.		9
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency			43
HP:0001627	HP:0001640	Cardiomegaly	1	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.		43
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NEXN CL E G H	91624	29557	OMIM:613122	Cardiomyopathy, dilated, 1cc			167
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NEXN CL E G H	91624	29557	OMIM:613876	Cardiomyopathy, familial hypertrophic, 20			167
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NEXN CL E G H	91624	29557	OMIM:613876	Cardiomyopathy, familial hypertrophic, 20			167
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy			167
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome			1952
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia			20
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia			20
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia			20
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52			5
HP:0001627	HP:0001640	Cardiomegaly	1	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis	.
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome			117
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome			117
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome			117
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome			117
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome			1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome			1
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional		51
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress	HP:0040283 - Occasional		51
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects			90
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects			90
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects			90
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects			90
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type			90
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type			90
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type			90
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NKX2-5 CL E G H	1482	2488	ORPHA:1479	Atrial septal defect-atrioventricular conduction defects syndrome	HP:0040281 - Very frequent		90
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NKX2-5 CL E G H	1482	2488	OMIM:217095	Conotruncal heart malformations			90
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	NKX2-5 CL E G H	1482	2488	OMIM:217095	Conotruncal heart malformations			90
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	NKX2-5 CL E G H	1482	2488	OMIM:217095	Conotruncal heart malformations			90
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	NKX2-5 CL E G H	1482	2488	ORPHA:402075	Familial bicuspid aortic valve			90
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NKX2-5 CL E G H	1482	2488	ORPHA:402075	Familial bicuspid aortic valve			90
HP:0001627	HP:0001961	Hypoplastic heart	1	NKX2-5 CL E G H	1482	2488	ORPHA:402075	Familial bicuspid aortic valve			90
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	NKX2-5 CL E G H	1482	2488	ORPHA:402075	Familial bicuspid aortic valve			90
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome			90
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome			90
HP:0001627	HP:0001961	Hypoplastic heart	1	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome			90
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome			90
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome			90
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome			90
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	NKX2-5 CL E G H	1482	2488	OMIM:614435	Hypoplastic left heart syndrome 2			90
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NKX2-5 CL E G H	1482	2488	OMIM:614435	Hypoplastic left heart syndrome 2			90
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NKX2-5 CL E G H	1482	2488	OMIM:614435	Hypoplastic left heart syndrome 2			90
HP:0001627	HP:0001961	Hypoplastic heart	1	NKX2-5 CL E G H	1482	2488	OMIM:614435	Hypoplastic left heart syndrome 2			90
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	NKX2-5 CL E G H	1482	2488	OMIM:614435	Hypoplastic left heart syndrome 2			90
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	NKX2-5 CL E G H	1482	2488	OMIM:614435	Hypoplastic left heart syndrome 2			90
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot			90
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	NKX2-5 CL E G H	1482	2488	OMIM:187500	Tetralogy of Fallot			90
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NKX2-5 CL E G H	1482	2488	OMIM:614432	Ventricular septal defect 3			90
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NKX2-5 CL E G H	1482	2488	OMIM:614432	Ventricular septal defect 3			90
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NKX2-5 CL E G H	1482	2488	OMIM:614432	Ventricular septal defect 3			90
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NKX2-6 CL E G H	137814	32940	OMIM:217095	Conotruncal heart malformations			3
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	NKX2-6 CL E G H	137814	32940	OMIM:217095	Conotruncal heart malformations			3
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	NKX2-6 CL E G H	137814	32940	OMIM:217095	Conotruncal heart malformations			3
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot			3
HP:0001627	HP:0001640	Cardiomegaly	1	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040282 - Frequent		3
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040281 - Very frequent		3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus			3
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus			3
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus			3
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus			3
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency			13
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome			187
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly			45
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0001627	HP:0001640	Cardiomegaly	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1			452
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1			452
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1			452
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1			452
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1			452
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	NOTCH1 CL E G H	4851	7881	ORPHA:402075	Familial bicuspid aortic valve			452
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NOTCH1 CL E G H	4851	7881	ORPHA:402075	Familial bicuspid aortic valve			452
HP:0001627	HP:0001961	Hypoplastic heart	1	NOTCH1 CL E G H	4851	7881	ORPHA:402075	Familial bicuspid aortic valve			452
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	NOTCH1 CL E G H	4851	7881	ORPHA:402075	Familial bicuspid aortic valve			452
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2			138
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2			138
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2			138
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.		138
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NPPA CL E G H	4878	7939	OMIM:612201	Atrial fibrillation, familial, 6			13
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill			13
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NPPA CL E G H	4878	7939	OMIM:615745	Atrial standstill 2			13
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NPPA CL E G H	4878	7939	OMIM:615745	Atrial standstill 2			13
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	NPR3 CL E G H	4883	7945	OMIM:619543	BOUDIN-MORTIER SYNDROME; BOMOS
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5			13
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5			13
HP:0001627	HP:0001961	Hypoplastic heart	1	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5			13
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5			13
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5			13
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NR2F2 CL E G H	7026	7976	OMIM:615779	Congenital heart defects, multiple types, 4			13
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NR2F2 CL E G H	7026	7976	OMIM:615779	Congenital heart defects, multiple types, 4			13
HP:0001627	HP:0001961	Hypoplastic heart	1	NR2F2 CL E G H	7026	7976	OMIM:615779	Congenital heart defects, multiple types, 4			13
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	NR2F2 CL E G H	7026	7976	OMIM:615779	Congenital heart defects, multiple types, 4			13
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	NR2F2 CL E G H	7026	7976	OMIM:615779	Congenital heart defects, multiple types, 4			13
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome			102
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		118
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		118
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	.		34
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects			34
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10			2
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11			5
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11			5
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11			5
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NUP155 CL E G H	9631	8063	OMIM:615770	Atrial fibrillation, familial, 15			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	ODAD4 CL E G H	83538	25280	OMIM:617092	Ciliary dyskinesia, primary, 35
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	ODAD4 CL E G H	83538	25280	OMIM:617092	Ciliary dyskinesia, primary, 35
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome			214
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14			214
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			41
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			41
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome	HP:0040283 - Occasional		24
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	HP:0040284 - Very rare
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria			641
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria			641
HP:0001627	HP:0001961	Hypoplastic heart	1	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria			641
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria			641
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria			641
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria			641
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		1349
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N			1349
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N			1349
HP:0001627	HP:0001640	Cardiomegaly	1	PAM16 CL E G H	51025	29679	OMIM:613320	Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type	.		1
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75			14
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3			59
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3			59
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia			96
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PCCA CL E G H	5095	8653	ORPHA:35	Propionic acidemia			96
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PCCB CL E G H	5096	8654	ORPHA:35	Propionic acidemia			92
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia			92
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia			178
HP:0001627	HP:0100544	Neoplasm of the heart	1	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex			13
HP:0001627	HP:0100544	Neoplasm of the heart	1	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0001627	HP:0100544	Neoplasm of the heart	1	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic			337
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic			337
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0001627	HP:0001640	Cardiomegaly	1	PDSS2 CL E G H	57107	23041	ORPHA:255249	Leigh syndrome with nephrotic syndrome	HP:0040283 - Occasional		54
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease			169
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease			75
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease			4
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease			65
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease			66
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease			46
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease			59
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)			59
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)			59
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease			62
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease			82
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease			106
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease			47
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease			99
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease			98
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PEX7 CL E G H	5191	8860	OMIM:614879	Peroxisome biogenesis disorder 9B			72
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease			72
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease			72
HP:0001627	HP:0001640	Cardiomegaly	1	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease	.		72
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0001627	HP:0001640	Cardiomegaly	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			54
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency			48
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease			45
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease			45
HP:0001627	HP:0001640	Cardiomegaly	1	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease	.		45
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome			4
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome			4
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040283 - Occasional		77
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome			77
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		7
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		7
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040282 - Frequent		37
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy			2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0001627	HP:0001640	Cardiomegaly	1	PIGS CL E G H	94005	14937	OMIM:618143	GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome			162
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome			162
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome			162
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome			12
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome			12
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome			12
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PIK3R2 CL E G H	5296	8980	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040282 - Frequent		12
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PIK3R2 CL E G H	5296	8980	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome			12
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease			342
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	PKD1 CL E G H	5310	9008	OMIM:173900	Polycystic kidneys			342
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal			3
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal			3
HP:0001627	HP:0001961	Hypoplastic heart	1	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal			3
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal			3
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal			3
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal			3
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal			3
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal			3
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal			3
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease			106
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2			106
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PKP2 CL E G H	5318	9024	OMIM:609040	Arrhythmogenic right ventricular dysplasia, familial, 9			406
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PKP2 CL E G H	5318	9024	OMIM:609040	Arrhythmogenic right ventricular dysplasia, familial, 9			406
HP:0001627	HP:0001640	Cardiomegaly	1	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PLN CL E G H	5350	9080	OMIM:609909	Cardiomyopathy, dilated, 1P			57
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PLN CL E G H	5350	9080	OMIM:613874	Cardiomyopathy, familial hypertrophic, 18			57
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PLN CL E G H	5350	9080	OMIM:613874	Cardiomyopathy, familial hypertrophic, 18			57
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy			57
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type
HP:0001627	HP:0001640	Cardiomegaly	1	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040282 - Frequent
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040281 - Very frequent
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome			56
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome			1121
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy			244
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy			244
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy			65
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy			65
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy			65
HP:0001627	HP:0031331	Abnormal cardiomyocyte morphology	1	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040281 - Very frequent		65
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			464
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			464
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	POLR1A CL E G H	25885	17264	ORPHA:1200	Burn-McKeown syndrome	HP:0040282 - Frequent		8
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040284 - Very rare		138
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			180
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			18
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			213
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1			213
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1			213
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11			213
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11			213
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			221
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2			221
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14			221
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			76
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			76
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional		20
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PPA2 CL E G H	27068	28883	OMIM:617223	Sudden cardiac failure, alcohol-induced			8
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PPA2 CL E G H	27068	28883	OMIM:617222	Sudden cardiac failure, infantile			8
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	HP:0040284 - Very rare		2
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome			28
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome			28
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type			28
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type			28
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy			148
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PRDM16 CL E G H	63976	14000	OMIM:615373	Left ventricular noncompaction 8			148
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome			58
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome			6
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PRKACA CL E G H	5566	9380	OMIM:619142	CARDIOACROFACIAL DYSPLASIA 1; CAFD1			2
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001627	HP:0100544	Neoplasm of the heart	1	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2			2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2			2
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PRKAG2 CL E G H	51422	9386	OMIM:600858	Cardiomyopathy, familial hypertrophic, 6			235
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PRKAG2 CL E G H	51422	9386	OMIM:261740	Glycogen storage disease of heart, lethal congenital			235
HP:0001627	HP:0001640	Cardiomegaly	1	PRKAG2 CL E G H	51422	9386	OMIM:261740	Glycogen storage disease of heart, lethal congenital	.		235
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PRKAG2 CL E G H	51422	9386	OMIM:261740	Glycogen storage disease of heart, lethal congenital			235
HP:0001627	HP:0100544	Neoplasm of the heart	1	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex			134
HP:0001627	HP:0100544	Neoplasm of the heart	1	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1			134
HP:0001627	HP:0001640	Cardiomegaly	1	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma	HP:0040283 - Occasional		134
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma			134
HP:0001627	HP:0100544	Neoplasm of the heart	1	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma			134
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma			134
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	PRKAR1A CL E G H	5573	9388	OMIM:255960	Myxoma, intracardiac			134
HP:0001627	HP:0100544	Neoplasm of the heart	1	PRKAR1A CL E G H	5573	9388	OMIM:255960	Myxoma, intracardiac			134
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	PRKAR1A CL E G H	5573	9388	OMIM:255960	Myxoma, intracardiac			134
HP:0001627	HP:0100544	Neoplasm of the heart	1	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0001627	HP:0001640	Cardiomegaly	1	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		41
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			41
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			4
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			4
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex			4
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex			4
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PSEN1 CL E G H	5663	9508	OMIM:613694	Cardiomyopathy, dilated, 1U			241
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PSEN1 CL E G H	5663	9508	OMIM:613694	Cardiomyopathy, dilated, 1U			241
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy			241
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V			59
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V			59
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy			59
HP:0001627	HP:0001640	Cardiomegaly	1	PSMB8 CL E G H	5696	9545	OMIM:256040	Proteasome-associated autoinflammatory syndrome 1 and digenic forms	.		20
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0001627	HP:0100544	Neoplasm of the heart	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly			665
HP:0001627	HP:0100544	Neoplasm of the heart	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0001627	HP:0100544	Neoplasm of the heart	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome			291
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional		291
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	PTPN14 CL E G H	5784	9647	OMIM:613611	Choanal atresia and lymphedema			1
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis			3
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	PTPN22 CL E G H	26191	9652	OMIM:152700	Systemic lupus erythematosus			3
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	PUF60 CL E G H	22827	17042	OMIM:615583	Verheij syndrome	.		19
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency			71
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency			166
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1			135
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome			25
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome			25
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		9
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		391
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RAF1 CL E G H	5894	9829	OMIM:615916	Cardiomyopathy, dilated, 1nn			212
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy			212
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2			212
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome			212
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040283 - Occasional		212
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RARB CL E G H	5915	9865	OMIM:615524	Microphthalmia, syndromic 12			9
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RARB CL E G H	5915	9865	OMIM:615524	Microphthalmia, syndromic 12			9
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RARB CL E G H	5915	9865	OMIM:615524	Microphthalmia, syndromic 12			9
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome			3
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome			16
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RBM20 CL E G H	282996	27424	OMIM:613172	Cardiomyopathy, dilated, 1dd			363
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy			363
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040283 - Occasional		10
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome			10
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RECQL4 CL E G H	9401	9949	ORPHA:1225	Baller-Gerold syndrome	HP:0040283 - Occasional		445
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			334
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			334
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0001627	HP:0001640	Cardiomegaly	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome			39
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11			26
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia			37
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent		37
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			3
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0001627	HP:0001640	Cardiomegaly	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		33
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0001627	HP:0001640	Cardiomegaly	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		34
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0001627	HP:0001640	Cardiomegaly	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		60
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome			11
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0001627	HP:0001640	Cardiomegaly	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ROBO4 CL E G H	54538	17985	OMIM:618496	Aortic valve disease 3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ROBO4 CL E G H	54538	17985	OMIM:618496	Aortic valve disease 3
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ROBO4 CL E G H	54538	17985	OMIM:618496	Aortic valve disease 3
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1			120
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1			120
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome			109
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome			109
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome			167
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome			167
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RPL15 CL E G H	6138	10306	OMIM:615550	Diamond-Blackfan anemia 12			3
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RPL15 CL E G H	6138	10306	OMIM:615550	Diamond-Blackfan anemia 12			3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11			3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RPL27 CL E G H	6155	10328	OMIM:617408	Diamond-Blackfan anemia 16			1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RPL27 CL E G H	6155	10328	OMIM:617408	Diamond-Blackfan anemia 16			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5			11
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5			11
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0001627	HP:0031331	Abnormal cardiomyocyte morphology	1	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4			5
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4			5
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10			20
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10			20
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy			125
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		1200
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy			1200
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease			1200
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0001627	HP:0031331	Abnormal cardiomyocyte morphology	1	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia			1200
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1200
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RYR2 CL E G H	6262	10484	OMIM:600996	Arrhythmogenic right ventricular dysplasia, familial, 2			1103
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	RYR2 CL E G H	6262	10484	OMIM:600996	Arrhythmogenic right ventricular dysplasia, familial, 2			1103
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RYR2 CL E G H	6262	10484	OMIM:115000	CARDIAC ARRHYTHMIA			1103
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	RYR2 CL E G H	6262	10484	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1			1103
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay			309
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		124
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome			86
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome			86
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome			86
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome			86
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome			86
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0001627	HP:0001640	Cardiomegaly	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		55
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1			26
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional		77
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1			77
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SCN1B CL E G H	6324	10586	OMIM:615377	Atrial fibrillation, familial, 13			126
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy			126
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy			126
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy			427
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy			427
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SCN5A CL E G H	6331	10593	OMIM:614022	Atrial fibrillation, familial, 10			1134
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SCN5A CL E G H	6331	10593	OMIM:614022	Atrial fibrillation, familial, 10			1134
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill			1134
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SCN5A CL E G H	6331	10593	OMIM:601154	Cardiomyopathy, dilated, 1E			1134
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy			1134
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	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:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	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:0001627	HP:0001637	Abnormal myocardium morphology	1	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg			304
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy			304
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency			304
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0001627	HP:0001640	Cardiomegaly	1	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			144
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		16
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X			48
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency			39
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SETD1A CL E G H	9739	29010	OMIM:618832	EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD			6
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SETD1A CL E G H	9739	29010	OMIM:618832	EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD			6
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency			51
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D			132
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4			113
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SGCB CL E G H	6443	10806	OMIM:604286	Muscular dystrophy, limb-girdle, type 2E			113
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SGCD CL E G H	6444	10807	OMIM:606685	CARDIOMYOPATHY, DILATED, 1L; CMD1L			223
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy			223
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SGCD CL E G H	6444	10807	OMIM:601287	Muscular dystrophy, limb-girdle, type 2F			223
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5			83
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SGO1 CL E G H	151648	25088	OMIM:616201	Chronic atrial and intestinal dysrhythmia			2
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome			134
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly			67
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy			11
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy			11
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2			32
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly			32
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3			20
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3			20
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome			145
HP:0001627	HP:0001640	Cardiomegaly	1	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease	.		78
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome			55
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome			55
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome			55
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood			63
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary			207
HP:0001627	HP:0001640	Cardiomegaly	1	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.		207
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary			207
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency			40
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency			40
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency			40
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SLC25A3 CL E G H	5250	10989	ORPHA:91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome			35
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SLC25A3 CL E G H	5250	10989	OMIM:610773	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY			35
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SLC25A4 CL E G H	291	10990	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome			68
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant			68
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis			68
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis			68
HP:0001627	HP:0001640	Cardiomegaly	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional		178
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome			178
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome			42
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4			56
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis			109
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		274
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0001627	HP:0001640	Cardiomegaly	1	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		7
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			7
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6			7
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome			260
HP:0001627	HP:0001640	Cardiomegaly	1	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		260
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			260
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0001627	HP:0001640	Cardiomegaly	1	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		504
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			504
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome			504
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SMAD4 CL E G H	4089	6770	ORPHA:2588	Myhre syndrome	HP:0040282 - Frequent		504
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SMAD6 CL E G H	4091	6772	OMIM:614823	Aortic valve disease 2			33
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SMAD6 CL E G H	4091	6772	ORPHA:402075	Familial bicuspid aortic valve			33
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SMAD6 CL E G H	4091	6772	ORPHA:402075	Familial bicuspid aortic valve			33
HP:0001627	HP:0001961	Hypoplastic heart	1	SMAD6 CL E G H	4091	6772	ORPHA:402075	Familial bicuspid aortic valve			33
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	SMAD6 CL E G H	4091	6772	ORPHA:402075	Familial bicuspid aortic valve			33
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I			22
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I			22
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I			22
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SMPD1 CL E G H	6609	11120	ORPHA:77293	Niemann-Pick disease type B	HP:0040284 - Very rare		164
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7			12
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism			3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome			6
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome			6
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome			315
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome			30
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9			30
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9			30
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome			33
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome			33
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3			33
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3			33
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10
HP:0001627	HP:0100544	Neoplasm of the heart	1	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	SP110 CL E G H	3431	5401	OMIM:235550	Hepatic venoocclusive disease with immunodeficiency			49
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28			45
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28			45
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		20
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy			20
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5			20
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0001627	HP:0001961	Hypoplastic heart	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis			228
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis			156
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary			1
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0001627	HP:0001961	Hypoplastic heart	1	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	HP:0040284 - Very rare		1
HP:0001627	HP:0001961	Hypoplastic heart	1	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency			45
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0001627	HP:0001640	Cardiomegaly	1	STAT2 CL E G H	6773	11363	OMIM:618886	PSEUDO-TORCH SYNDROME 3; PTORCH3			9
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease			2
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus			2
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS			4
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS			4
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome			6
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome			6
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0001627	HP:0001640	Cardiomegaly	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0001627	HP:0100544	Neoplasm of the heart	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome			124
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome			124
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32			124
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly			124
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			1129
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SYNE1 CL E G H	23345	17089	OMIM:612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant			1129
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SYNE1 CL E G H	23345	17089	OMIM:612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant			1129
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			508
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	SYNE2 CL E G H	23224	17084	OMIM:612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant			508
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2			11
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2			11
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2			11
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2			11
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome	HP:0040281 - Very frequent		11
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40			7
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome			7
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TAFAZZIN CL E G H	6901	11577	ORPHA:111	Barth syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	TAFAZZIN CL E G H	6901	11577	ORPHA:111	Barth syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency			34
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency			34
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency			34
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration			12
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0001627	HP:0001640	Cardiomegaly	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0001627	HP:0001640	Cardiomegaly	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome			32
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome			32
HP:0001627	HP:0001961	Hypoplastic heart	1	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome			32
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome			32
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome			32
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TBX1 CL E G H	6899	11592	OMIM:217095	Conotruncal heart malformations			32
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	TBX1 CL E G H	6899	11592	OMIM:217095	Conotruncal heart malformations			32
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	TBX1 CL E G H	6899	11592	OMIM:217095	Conotruncal heart malformations			32
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot			32
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	TBX1 CL E G H	6899	11592	OMIM:187500	Tetralogy of Fallot			32
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TBX20 CL E G H	57057	11598	OMIM:611363	ATRIAL SEPTAL DEFECT 4; ASD4			20
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TBX20 CL E G H	57057	11598	OMIM:611363	ATRIAL SEPTAL DEFECT 4; ASD4			20
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type			20
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type			20
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type			20
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome			28
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome			28
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome			123
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome			123
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome			123
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome			123
HP:0001627	HP:0001961	Hypoplastic heart	1	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome			123
HP:0001627	HP:0001961	Hypoplastic heart	1	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome			123
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome			123
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome			123
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome			123
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome			123
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TCAP CL E G H	8557	11610	OMIM:607487	Cardiomyopathy, familial hypertrophic, 25			78
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TCAP CL E G H	8557	11610	OMIM:607487	Cardiomyopathy, familial hypertrophic, 25			78
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy			78
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis			82
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis			82
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome			45
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome			45
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome			45
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome			45
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome			76
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome			76
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome			76
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome			76
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8			76
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18			31
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18			31
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome			31
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome			31
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly			1
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2			238
HP:0001627	HP:0001640	Cardiomegaly	1	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome			104
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome			104
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3			67
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome			6
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome			6
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome			6
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0001627	HP:0001640	Cardiomegaly	1	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		162
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			162
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4			162
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TGFB3 CL E G H	7043	11769	OMIM:107970	Arrhythmogenic right ventricular dysplasia, familial, 1			85
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TGFB3 CL E G H	7043	11769	OMIM:107970	Arrhythmogenic right ventricular dysplasia, familial, 1			85
HP:0001627	HP:0001640	Cardiomegaly	1	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		85
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			85
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0001627	HP:0001640	Cardiomegaly	1	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		239
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			239
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0001627	HP:0001640	Cardiomegaly	1	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent		253
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			253
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome			253
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly			32
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	THPO CL E G H	7066	11795	ORPHA:3319	Congenital amegakaryocytic thrombocytopenia	HP:0040283 - Occasional		23
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TIAM1 CL E G H	7074	11805	OMIM:619908				2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TIAM1 CL E G H	7074	11805	OMIM:619908				2
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia			103
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TKFC CL E G H	26007	24552	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects			4
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects			4
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects			4
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TLL1 CL E G H	7092	11843	OMIM:613087	Atrial septal defect 6			6
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TLL1 CL E G H	7092	11843	OMIM:613087	Atrial septal defect 6			6
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type			6
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type			6
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type			6
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type			6
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type			6
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional		3
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease			3
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome			4
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome			4
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy			23
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TMEM126B CL E G H	55863	30883	OMIM:618250	Mitochondrial complex I deficiency, nuclear type 29			4
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome			45
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome			45
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0001627	HP:0001961	Hypoplastic heart	1	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome			33
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome			33
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome			82
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome			82
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome			82
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome			82
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0001627	HP:0001640	Cardiomegaly	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TMEM43 CL E G H	79188	28472	OMIM:604400	Arrhythmogenic right ventricular dysplasia, familial, 5			171
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TMEM43 CL E G H	79188	28472	OMIM:604400	Arrhythmogenic right ventricular dysplasia, familial, 5			171
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			171
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome			166
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome			166
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome			166
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome			166
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2			63
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy			136
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	TMTC3 CL E G H	160418	26899	ORPHA:98892	Periventricular nodular heterotopia	HP:0040282 - Frequent		5
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis			72
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis			72
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040283 - Occasional		131
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome			131
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TNNC1 CL E G H	7134	11943	OMIM:611879	CARDIOMYOPATHY, DILATED, 1Z; CMD1Z			73
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13			73
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13			73
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy			73
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TNNI3 CL E G H	7137	11947	OMIM:613286	Cardiomyopathy, dilated, 1ff			180
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TNNI3 CL E G H	7137	11947	OMIM:611880	Cardiomyopathy, dilated, 2A			180
HP:0001627	HP:0031331	Abnormal cardiomyocyte morphology	1	TNNI3 CL E G H	7137	11947	OMIM:611880	Cardiomyopathy, dilated, 2A			180
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TNNI3 CL E G H	7137	11947	OMIM:613690	Cardiomyopathy, familial hypertrophic, 7			180
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TNNI3 CL E G H	7137	11947	OMIM:613690	Cardiomyopathy, familial hypertrophic, 7			180
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TNNI3 CL E G H	7137	11947	OMIM:115210	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1			180
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TNNI3 CL E G H	7137	11947	OMIM:115210	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1			180
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TNNI3 CL E G H	7137	11947	OMIM:115210	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1			180
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy			180
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy			180
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy			180
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TNNI3K CL E G H	51086	19661	OMIM:616117	Cardiac conduction disease with or without dilated cardiomyopathy			1
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D			248
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D			248
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TNNT2 CL E G H	7139	11949	OMIM:115195	Cardiomyopathy, familial hypertrophic, 2			248
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TNNT2 CL E G H	7139	11949	OMIM:115195	Cardiomyopathy, familial hypertrophic, 2			248
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TNNT2 CL E G H	7139	11949	OMIM:115195	Cardiomyopathy, familial hypertrophic, 2			248
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TNNT2 CL E G H	7139	11949	OMIM:612422	Cardiomyopathy, familial restrictive, 3			248
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy			248
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy			248
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy			248
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1			134
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like			134
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip			140
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip			140
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TPI1 CL E G H	7167	12009	ORPHA:868	Triose phosphate-isomerase deficiency			28
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TPM1 CL E G H	7168	12010	OMIM:611878	Cardiomyopathy, dilated, 1Y			230
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	TPM1 CL E G H	7168	12010	OMIM:611878	Cardiomyopathy, dilated, 1Y			230
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TPM1 CL E G H	7168	12010	OMIM:115196	Cardiomyopathy, familial hypertrophic, 3			230
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy			230
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy			54
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy			54
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			54
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy			108
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy			108
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			108
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	TRAF3IP2 CL E G H	10758	1343	ORPHA:1334	Chronic mucocutaneous candidiasis	HP:0040283 - Occasional		4
HP:0001627	HP:0001961	Hypoplastic heart	1	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome			27
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TRDN CL E G H	10345	12261	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1			145
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0001627	HP:0001640	Cardiomegaly	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040283 - Occasional		56
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations			56
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	TREX1 CL E G H	11277	12269	OMIM:152700	Systemic lupus erythematosus			56
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0001627	HP:0001640	Cardiomegaly	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30			3
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0001627	HP:0100544	Neoplasm of the heart	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0001627	HP:0100544	Neoplasm of the heart	1	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1			1090
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0001627	HP:0100544	Neoplasm of the heart	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0001627	HP:0100544	Neoplasm of the heart	1	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3			43
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3			43
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3			43
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome			26
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome			26
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8			41
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8			41
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		7128
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy			7128
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TTN CL E G H	7273	12403	OMIM:604145	CARDIOMYOPATHY, DILATED, 1G; CMD1G			7128
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TTN CL E G H	7273	12403	OMIM:613765	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9; CMH9			7128
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy			7128
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy			7128
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy			7128
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy			7128
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency			62
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related			107
HP:0001627	HP:0001640	Cardiomegaly	1	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related	.		107
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis			107
HP:0001627	HP:0001640	Cardiomegaly	1	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis			107
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis			107
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TTR CL E G H	7276	12405	ORPHA:85447	ATTRV30M amyloidosis			107
HP:0001627	HP:0001640	Cardiomegaly	1	TTR CL E G H	7276	12405	ORPHA:85447	ATTRV30M amyloidosis	HP:0040282 - Frequent		107
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome			14
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome			14
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome			14
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome			14
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3			113
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			113
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome			2
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome			19
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	TXNL4A CL E G H	10907	30551	ORPHA:1200	Burn-McKeown syndrome	HP:0040282 - Frequent		19
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome			19
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome			19
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency			85
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy			85
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040283 - Occasional		25
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome			25
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency			15
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria			135
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria			135
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria			135
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome			33
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome			33
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5			17
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5			17
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001627	HP:0001697	Abnormal pericardium morphology	1	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2			2
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2			2
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0001627	HP:0001640	Cardiomegaly	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		6
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20			56
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	VCL CL E G H	7414	12665	OMIM:611407	CARDIOMYOPATHY, DILATED, 1W; CMD1W			248
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15			248
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15			248
HP:0001627	HP:0031331	Abnormal cardiomyocyte morphology	1	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15			248
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy			248
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia			63
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease			490
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0001627	HP:0001640	Cardiomegaly	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0001627	HP:0004306	Abnormal endocardium morphology	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1			533
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures			2
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect			2
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0001627	HP:0001961	Hypoplastic heart	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0001627	HP:0001961	Hypoplastic heart	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	WDPCP CL E G H	51057	28027	OMIM:217085	Congenital heart defects, hamartomas of tongue, and polysyndactyly			60
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	WDPCP CL E G H	51057	28027	OMIM:217085	Congenital heart defects, hamartomas of tongue, and polysyndactyly			60
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	WDPCP CL E G H	51057	28027	ORPHA:1338	Heart defect-tongue hamartoma-polysyndactyly syndrome			60
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0001627	HP:0001640	Cardiomegaly	1	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome			389
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1			389
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs			4
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs			4
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome			4
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome			4
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome			177
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome			177
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001627	HP:0001961	Hypoplastic heart	1	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome			177
HP:0001627	HP:0001961	Hypoplastic heart	1	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome			177
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome			177
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome			177
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome			177
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome			177
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome			8
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040282 - Frequent		125
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			14
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			14
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			5
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			5
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001627	HP:0001637	Abnormal myocardium morphology	1	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2			45
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	YY1AP1 CL E G H	55249	30935	OMIM:602531	Grange syndrome			5
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	YY1AP1 CL E G H	55249	30935	ORPHA:79094	Grange syndrome			5
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	YY1AP1 CL E G H	55249	30935	ORPHA:79094	Grange syndrome			5
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome			10
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome			10
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot			31
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	ZFPM2 CL E G H	23414	16700	OMIM:187500	Tetralogy of Fallot			31
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly			34
HP:0001627	HP:0001640	Cardiomegaly	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked	.		39
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0001961	Hypoplastic heart	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0045017	Congenital malformation of the left heart	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked			39
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked			39
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked			39
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22			20
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22			20
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0001627	HP:0011723	Congenital malformation of the right heart	1	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0001627	HP:0004307	Abnormal anatomic location of the heart	1	ZNF423 CL E G H	23090	16762	OMIM:614844	Nephronophthisis 14			49
HP:0001627	HP:0011534	Abnormal spatial orientation of the cardiac segments	1	ZNF423 CL E G H	23090	16762	OMIM:614844	Nephronophthisis 14			49
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0001627	HP:0011545	Abnormal connection of the cardiac segments	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome			397
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome			397
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ZNF687 CL E G H	57592	29277	OMIM:616833	Paget disease of bone 6			2
HP:0001627	HP:0001654	Abnormal heart valve morphology	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001627	HP:0001671	Abnormal cardiac septum morphology	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001627	HP:0001713	Abnormal cardiac ventricle morphology	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001627	HP:0005120	Abnormal cardiac atrium morphology	1	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001627	HP:0001683	Ectopia cordis	2	CL E G H
HP:0001627	HP:0003338	Focal necrosis of right ventricular muscle cells	2	CL E G H
HP:0001627	HP:0011541	Criss-cross atrioventricular valves	2	CL E G H
HP:0001627	HP:0011543	Superior-inferior ventricles without criss-cross atrioventricular valves	2	CL E G H
HP:0001627	HP:0011544	L-looping of the right ventricle	2	CL E G H
HP:0001627	HP:0011600	Abnormal direction of ventricular apex	2	CL E G H
HP:0001627	HP:0011674	Cardiac teratoma	2	CL E G H
HP:0001627	HP:0011724	Uhl's anomaly	2	CL E G H
HP:0001627	HP:0031296	Atrial septal hypertrophy	2	CL E G H
HP:0001627	HP:0031316	Abnormal ventricular myocardium morphology	2	CL E G H
HP:0001627	HP:0031317	Fatty replacement of ventricular myocardial tissue	2	CL E G H
HP:0001627	HP:0031321	Myocardial immune cell infiltration	2	CL E G H
HP:0001627	HP:0031332	Cardiomyocyte degeneration	2	CL E G H
HP:0001627	HP:0031334	Cardiomyocyte inclusion bodies	2	CL E G H
HP:0001627	HP:0031335	Abnormal cardiomyocyte mitochondrial morphology	2	CL E G H
HP:0001627	HP:0031337	Abnormal cardiomyocyte connexin43 staining	2	CL E G H
HP:0001627	HP:0031338	Abnormal cardiomyocyte plakoglobin staining	2	CL E G H
HP:0001627	HP:0031339	Abnormal cadiomyocyte dystrophin staining	2	CL E G H
HP:0001627	HP:0031350	Cardiac sarcoma	2	CL E G H
HP:0001627	HP:0031351	Calcified amorphous tumor of the heart	2	CL E G H
HP:0001627	HP:0031592	Situs inversus with levocardia	2	CL E G H
HP:0001627	HP:0100004	Pericardial mesothelioma	2	CL E G H
HP:0001627	HP:4000003	Elevated myocardial native T2	2	CL E G H
HP:0001627	HP:4000005	Pericardial late gadolinium enhancement	2	CL E G H
HP:0001627	HP:4000006	Elevated myocardial native T1	2	CL E G H
HP:0001627	HP:0001638	Cardiomyopathy	2	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8			143
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease			191
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease			191
HP:0001627	HP:0001714	Ventricular hypertrophy	2	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease			191
HP:0001627	HP:0001714	Ventricular hypertrophy	2	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease			191
HP:0001627	HP:0025580	Abnormal right atrium morphology	2	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2			415
HP:0001627	HP:0001698	Pericardial effusion	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		415
HP:0001627	HP:0001714	Ventricular hypertrophy	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		415
HP:0001627	HP:0006690	Myocardial calcification	2	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare		415
HP:0001627	HP:0001638	Cardiomyopathy	2	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum			415
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum			415
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste			415
HP:0001627	HP:0001638	Cardiomyopathy	2	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			415
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			415
HP:0001627	HP:0001638	Cardiomyopathy	2	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency			245
HP:0001627	HP:0001638	Cardiomyopathy	2	ABCC9 CL E G H	10060	60	OMIM:608569	CARDIOMYOPATHY, DILATED, 1O; CMD1O			254
HP:0001627	HP:0001638	Cardiomyopathy	2	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy			254
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0001627	HP:0001698	Pericardial effusion	2	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.		254
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0001627	HP:0001714	Ventricular hypertrophy	2	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0001627	HP:0001638	Cardiomyopathy	2	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			254
HP:0001627	HP:0001631	Atrial septal defect	2	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	HP:0040283 - Occasional		53
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type			53
HP:0001627	HP:0006693	Myocardial steatosis	2	ABCG5 CL E G H	64240	13886	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent		67
HP:0001627	HP:0006693	Myocardial steatosis	2	ABCG8 CL E G H	64241	13887	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent		76
HP:0001627	HP:0001638	Cardiomyopathy	2	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent		90
HP:0001627	HP:0001631	Atrial septal defect	2	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.		51
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome			51
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome			51
HP:0001627	HP:0001638	Cardiomyopathy	2	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency			58
HP:0001627	HP:0001638	Cardiomyopathy	2	ACAD8 CL E G H	27034	87	OMIM:611283	Isobutyryl-CoA dehydrogenase deficiency			58
HP:0001627	HP:0001638	Cardiomyopathy	2	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency			98
HP:0001627	HP:0001638	Cardiomyopathy	2	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency			98
HP:0001627	HP:0001638	Cardiomyopathy	2	ACADS CL E G H	35	90	OMIM:201470	Acyl-Coa dehydrogenase, short-chain, deficiency of	.		90
HP:0001627	HP:0001638	Cardiomyopathy	2	ACADS CL E G H	35	90	ORPHA:26792	Short chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		90
HP:0001627	HP:0001631	Atrial septal defect	2	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		200
HP:0001627	HP:0001638	Cardiomyopathy	2	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0001627	HP:0001698	Pericardial effusion	2	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare		200
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency			200
HP:0001627	HP:0001638	Cardiomyopathy	2	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	ACSL4 CL E G H	2182	3571	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040283 - Occasional		19
HP:0001627	HP:0001638	Cardiomyopathy	2	ACTA1 CL E G H	58	129	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		96
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy			96
HP:0001627	HP:0001638	Cardiomyopathy	2	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			96
HP:0001627	HP:0001638	Cardiomyopathy	2	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3			96
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			94
HP:0001627	HP:0001631	Atrial septal defect	2	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome			94
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome			94
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0001627	HP:0001631	Atrial septal defect	2	ACTC1 CL E G H	70	143	OMIM:612794	Atrial septal defect 5	.		208
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ACTC1 CL E G H	70	143	OMIM:612794	Atrial septal defect 5			208
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type			208
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type			208
HP:0001627	HP:0025580	Abnormal right atrium morphology	2	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type			208
HP:0001627	HP:0001638	Cardiomyopathy	2	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R			208
HP:0001627	HP:0001685	Myocardial fibrosis	2	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R			208
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R			208
HP:0001627	HP:0001714	Ventricular hypertrophy	2	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R			208
HP:0001627	HP:0030681	Abnormal morphology of myocardial trabeculae	2	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R			208
HP:0001627	HP:0031319	Cardiomyocyte hypertrophy	2	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R			208
HP:0001627	HP:0001631	Atrial septal defect	2	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11			208
HP:0001627	HP:0001638	Cardiomyopathy	2	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11			208
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11			208
HP:0001627	HP:0001714	Ventricular hypertrophy	2	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11			208
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11			208
HP:0001627	HP:0001638	Cardiomyopathy	2	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy			208
HP:0001627	HP:0001638	Cardiomyopathy	2	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction			307
HP:0001627	HP:0001706	Endocardial fibroelastosis	2	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction			307
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction			307
HP:0001627	HP:0001714	Ventricular hypertrophy	2	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction			307
HP:0001627	HP:0006685	Endocardial fibrosis	2	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction	.		307
HP:0001627	HP:0030681	Abnormal morphology of myocardial trabeculae	2	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction			307
HP:0001627	HP:0031318	Myofiber disarray	2	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction			307
HP:0001627	HP:0031319	Cardiomyocyte hypertrophy	2	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction	.		307
HP:0001627	HP:0001638	Cardiomyopathy	2	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy			307
HP:0001627	HP:0001651	Dextrocardia	2	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal	.		161
HP:0001627	HP:0006695	Atrioventricular canal defect	2	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal	.		161
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal			161
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal			161
HP:0001627	HP:0011565	Common atrium	2	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal			161
HP:0001627	HP:0001631	Atrial septal defect	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		22
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome			22
HP:0001627	HP:0001638	Cardiomyopathy	2	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease			2
HP:0001627	HP:0001714	Ventricular hypertrophy	2	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease			2
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome			63
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1			63
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	ADAMTS19 CL E G H	171019	17111	OMIM:620067				1
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	ADAMTS19 CL E G H	171019	17111	OMIM:620067				1
HP:0001627	HP:0001698	Pericardial effusion	2	ADAMTS3 CL E G H	9508	219	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001638	Cardiomyopathy	2	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0001627	HP:0001631	Atrial septal defect	2	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional		9
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome			9
HP:0001627	HP:0001638	Cardiomyopathy	2	ADCY5 CL E G H	111	236	OMIM:619647	DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR			25
HP:0001627	HP:0001638	Cardiomyopathy	2	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia			25
HP:0001627	HP:0001638	Cardiomyopathy	2	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia			25
HP:0001627	HP:0001638	Cardiomyopathy	2	ADCY5 CL E G H	111	236	OMIM:619651	NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD			25
HP:0001627	HP:0001631	Atrial septal defect	2	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	HP:0040283 - Occasional		26
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0001627	HP:0001638	Cardiomyopathy	2	ADORA2A CL E G H	135	263	ORPHA:363549	Acute encephalopathy with biphasic seizures and late reduced diffusion			1
HP:0001627	HP:0001698	Pericardial effusion	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0001627	HP:0001631	Atrial septal defect	2	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0001627	HP:0001631	Atrial septal defect	2	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0001627	HP:0001631	Atrial septal defect	2	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome			1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome			1
HP:0001627	HP:0001638	Cardiomyopathy	2	AGK CL E G H	55750	21869	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome			82
HP:0001627	HP:0001638	Cardiomyopathy	2	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome			82
HP:0001627	HP:0001638	Cardiomyopathy	2	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III	.		216
HP:0001627	HP:0001714	Ventricular hypertrophy	2	AGL CL E G H	178	321	OMIM:232400	Glycogen storage disease III	.		216
HP:0001627	HP:0001631	Atrial septal defect	2	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0001627	HP:0001638	Cardiomyopathy	2	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy			85
HP:0001627	HP:0001638	Cardiomyopathy	2	AGPAT2 CL E G H	10555	325	OMIM:608594	Lipodystrophy, congenital generalized, type 1	HP:0040283 - Occasional		85
HP:0001627	HP:0001638	Cardiomyopathy	2	AHCY CL E G H	191	343	OMIM:613752	HYPERMETHIONINEMIA WITH S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY	.		31
HP:0001627	HP:0001638	Cardiomyopathy	2	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040283 - Occasional		31
HP:0001627	HP:0001651	Dextrocardia	2	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome			175
HP:0001627	HP:0001696	Situs inversus totalis	2	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		175
HP:0001627	HP:0001631	Atrial septal defect	2	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3			175
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3			175
HP:0001627	HP:0001651	Dextrocardia	2	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		175
HP:0001627	HP:0001638	Cardiomyopathy	2	AIP CL E G H	9049	358	ORPHA:963	Acromegaly			95
HP:0001627	HP:0001638	Cardiomyopathy	2	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1	.		95
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1			95
HP:0001627	HP:0001714	Ventricular hypertrophy	2	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1			95
HP:0001627	HP:0001638	Cardiomyopathy	2	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism			95
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism			95
HP:0001627	HP:0001714	Ventricular hypertrophy	2	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism			95
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	AKT3 CL E G H	10000	393	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome			19
HP:0001627	HP:0006698	Dilatation of the ventricular cavity	2	ALDH18A1 CL E G H	5832	9722	ORPHA:90348	Autosomal dominant cutis laxa			89
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0001627	HP:0001638	Cardiomyopathy	2	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG	HP:0040283 - Occasional		58
HP:0001627	HP:0001638	Cardiomyopathy	2	ALG1 CL E G H	56052	18294	OMIM:608540	Congenital disorder of glycosylation, type Ik	.		58
HP:0001627	HP:0001631	Atrial septal defect	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0001627	HP:0001714	Ventricular hypertrophy	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0001627	HP:0001631	Atrial septal defect	2	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0001627	HP:0001638	Cardiomyopathy	2	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040284 - Very rare		37
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0001627	HP:0001631	Atrial septal defect	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0001627	HP:0001698	Pericardial effusion	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040282 - Frequent		93
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG			93
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease			93
HP:0001627	HP:0001698	Pericardial effusion	2	ALG9 CL E G H	79796	15672	OMIM:608776	Congenital disorder of glycosylation, type Il			93
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71
HP:0001627	HP:0001638	Cardiomyopathy	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome			404
HP:0001627	HP:0001685	Myocardial fibrosis	2	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040283 - Occasional		404
HP:0001627	HP:0001638	Cardiomyopathy	2	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome			404
HP:0001627	HP:0001638	Cardiomyopathy	2	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27			89
HP:0001627	HP:0001706	Endocardial fibroelastosis	2	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27			89
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27			89
HP:0001627	HP:0001714	Ventricular hypertrophy	2	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27			89
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27			89
HP:0001627	HP:0031319	Cardiomyocyte hypertrophy	2	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27			89
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0001627	HP:0001631	Atrial septal defect	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	AMMECR1 CL E G H	9949	467	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040283 - Occasional		2
HP:0001627	HP:0001631	Atrial septal defect	2	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0001627	HP:0001631	Atrial septal defect	2	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0001627	HP:0001631	Atrial septal defect	2	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040283 - Occasional		150
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0001627	HP:0001638	Cardiomyopathy	2	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis			150
HP:0001627	HP:0001638	Cardiomyopathy	2	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy			95
HP:0001627	HP:0001638	Cardiomyopathy	2	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome			102
HP:0001627	HP:0001638	Cardiomyopathy	2	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16			32
HP:0001627	HP:0001651	Dextrocardia	2	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16			32
HP:0001627	HP:0001696	Situs inversus totalis	2	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16	HP:0040283 - Occasional		32
HP:0001627	HP:0001638	Cardiomyopathy	2	ANO5 CL E G H	203859	27337	ORPHA:206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	HP:0040283 - Occasional		304
HP:0001627	HP:0001631	Atrial septal defect	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome			1
HP:0001627	HP:0006693	Myocardial steatosis	2	APOB CL E G H	338	603	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent		356
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay			3
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		147
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0001627	HP:0001631	Atrial septal defect	2	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.		147
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0001627	HP:0004383	Hypoplastic left heart	2	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0001627	HP:0001631	Atrial septal defect	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		88
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0001627	HP:0001631	Atrial septal defect	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		219
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0001627	HP:0001631	Atrial septal defect	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0001627	HP:0001631	Atrial septal defect	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		25
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0001627	HP:0001631	Atrial septal defect	2	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0001627	HP:0001651	Dextrocardia	2	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome			62
HP:0001627	HP:0001696	Situs inversus totalis	2	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		62
HP:0001627	HP:0001651	Dextrocardia	2	ARL2BP CL E G H	23568	17146	OMIM:615434	Retinitis pigmentosa with or without situs inversus			3
HP:0001627	HP:0001696	Situs inversus totalis	2	ARL2BP CL E G H	23568	17146	OMIM:615434	Retinitis pigmentosa with or without situs inversus	HP:0040283 - Occasional		3
HP:0001627	HP:0001651	Dextrocardia	2	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome			1
HP:0001627	HP:0001696	Situs inversus totalis	2	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0001627	HP:0001714	Ventricular hypertrophy	2	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1			29
HP:0001627	HP:0001651	Dextrocardia	2	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0001627	HP:0001696	Situs inversus totalis	2	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001638	Cardiomyopathy	2	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.		120
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0001627	HP:0001714	Ventricular hypertrophy	2	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0001627	HP:0001631	Atrial septal defect	2	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040284 - Very rare
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata
HP:0001627	HP:0001631	Atrial septal defect	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		1
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		1
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia			166
HP:0001627	HP:0001631	Atrial septal defect	2	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0001627	HP:0001631	Atrial septal defect	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome			145
HP:0001627	HP:0001631	Atrial septal defect	2	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.		7
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome			7
HP:0001627	HP:0001638	Cardiomyopathy	2	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome			5
HP:0001627	HP:0001638	Cardiomyopathy	2	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome			5
HP:0001627	HP:0001638	Cardiomyopathy	2	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0001627	HP:0001631	Atrial septal defect	2	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency	.		4
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency			4
HP:0001627	HP:0001631	Atrial septal defect	2	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive
HP:0001627	HP:0001714	Ventricular hypertrophy	2	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive
HP:0001627	HP:0001638	Cardiomyopathy	2	ATP1A2 CL E G H	477	800	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040284 - Very rare		239
HP:0001627	HP:0001638	Cardiomyopathy	2	ATP1A3 CL E G H	478	801	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040284 - Very rare		150
HP:0001627	HP:0001631	Atrial septal defect	2	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0001627	HP:0001638	Cardiomyopathy	2	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5
HP:0001627	HP:0001638	Cardiomyopathy	2	ATP5F1E CL E G H	514	838	OMIM:614053	Mitochondrial complex V (atp synthase) deficiency, nuclear type 3
HP:0001627	HP:0001638	Cardiomyopathy	2	ATP5MK CL E G H	84833	30889	OMIM:618683	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0001627	HP:0001638	Cardiomyopathy	2	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001638	Cardiomyopathy	2	ATP6 CL E G H	4508	7414	ORPHA:320360	MT-ATP6-related mitochondrial spastic paraplegia	HP:0040283 - Occasional
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type			36
HP:0001627	HP:0001714	Ventricular hypertrophy	2	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type			36
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome			140
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0001627	HP:0001631	Atrial septal defect	2	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.		3
HP:0001627	HP:0001638	Cardiomyopathy	2	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0001627	HP:0010954	Hypoplastic right heart	2	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID			3
HP:0001627	HP:0001719	Double outlet right ventricle	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional		5
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0001627	HP:0001631	Atrial septal defect	2	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.		2
HP:0001627	HP:0001714	Ventricular hypertrophy	2	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked			169
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach			169
HP:0001627	HP:0001631	Atrial septal defect	2	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional		61
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency			61
HP:0001627	HP:0030843	Cardiac amyloidosis	2	B2M CL E G H	567	914	ORPHA:314652	Variant ABeta2M amyloidosis	HP:0040283 - Occasional		8
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0001627	HP:0001631	Atrial septal defect	2	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0001627	HP:0001631	Atrial septal defect	2	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0001627	HP:0001714	Ventricular hypertrophy	2	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0001627	HP:0004383	Hypoplastic left heart	2	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040284 - Very rare		36
HP:0001627	HP:0001631	Atrial septal defect	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0001627	HP:0001651	Dextrocardia	2	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome			28
HP:0001627	HP:0001696	Situs inversus totalis	2	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		28
HP:0001627	HP:0001651	Dextrocardia	2	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome			28
HP:0001627	HP:0001696	Situs inversus totalis	2	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		28
HP:0001627	HP:0001651	Dextrocardia	2	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome			34
HP:0001627	HP:0001696	Situs inversus totalis	2	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		34
HP:0001627	HP:0001651	Dextrocardia	2	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome			34
HP:0001627	HP:0001696	Situs inversus totalis	2	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		34
HP:0001627	HP:0001638	Cardiomyopathy	2	BAG3 CL E G H	9531	939	OMIM:613881	Cardiomyopathy, dilated, 1hh			204
HP:0001627	HP:0001638	Cardiomyopathy	2	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy			204
HP:0001627	HP:0001638	Cardiomyopathy	2	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6			204
HP:0001627	HP:0001638	Cardiomyopathy	2	BAG5 CL E G H	9529	941	OMIM:619747	CARDIOMYOPATHY, DILATED, 2F; CMD2F
HP:0001627	HP:0001638	Cardiomyopathy	2	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0001627	HP:0025579	Abnormal left atrium morphology	2	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0001627	HP:0025580	Abnormal right atrium morphology	2	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0001627	HP:0001631	Atrial septal defect	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001638	Cardiomyopathy	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0001627	HP:0001714	Ventricular hypertrophy	2	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1			114
HP:0001627	HP:0001631	Atrial septal defect	2	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2	HP:0040283 - Occasional		97
HP:0001627	HP:0001638	Cardiomyopathy	2	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2			97
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2			97
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2			97
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0001627	HP:0001631	Atrial septal defect	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001638	Cardiomyopathy	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0001627	HP:0001631	Atrial septal defect	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0001627	HP:0001651	Dextrocardia	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	HP:0040283 - Occasional		101
HP:0001627	HP:0001719	Double outlet right ventricle	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0001627	HP:0001631	Atrial septal defect	2	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		5
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			5
HP:0001627	HP:0001638	Cardiomyopathy	2	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1			72
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease			5
HP:0001627	HP:0001631	Atrial septal defect	2	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy			99
HP:0001627	HP:0001714	Ventricular hypertrophy	2	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy			99
HP:0001627	HP:0001698	Pericardial effusion	2	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	HP:0040284 - Very rare
HP:0001627	HP:0001631	Atrial septal defect	2	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome	HP:0040283 - Occasional		13
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome			13
HP:0001627	HP:0001638	Cardiomyopathy	2	BMP2 CL E G H	650	1069	OMIM:235200	Hemochromatosis, type 1	.		13
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0001627	HP:0001638	Cardiomyopathy	2	BMP6 CL E G H	654	1073	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional
HP:0001627	HP:0100571	Cardiac diverticulum	2	BMPR1A CL E G H	657	1076	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		385
HP:0001627	HP:0001631	Atrial septal defect	2	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional		385
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy			385
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1			525
HP:0001627	HP:0001714	Ventricular hypertrophy	2	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1			525
HP:0001627	HP:0001638	Cardiomyopathy	2	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia			14
HP:0001627	HP:0001631	Atrial septal defect	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		276
HP:0001627	HP:0001638	Cardiomyopathy	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0001627	HP:0001631	Atrial septal defect	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0001627	HP:0001638	Cardiomyopathy	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3	.		276
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0001627	HP:0001631	Atrial septal defect	2	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0001627	HP:0001638	Cardiomyopathy	2	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0001627	HP:0001631	Atrial septal defect	2	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0001627	HP:0001638	Cardiomyopathy	2	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent		276
HP:0001627	HP:0006695	Atrioventricular canal defect	2	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent		276
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines			276
HP:0001627	HP:0001631	Atrial septal defect	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		5769
HP:0001627	HP:0001638	Cardiomyopathy	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		5769
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0001627	HP:0001631	Atrial septal defect	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		7642
HP:0001627	HP:0001638	Cardiomyopathy	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		7642
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0001627	HP:0001638	Cardiomyopathy	2	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome			8
HP:0001627	HP:0001631	Atrial septal defect	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0001627	HP:0001631	Atrial septal defect	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1086
HP:0001627	HP:0001638	Cardiomyopathy	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1086
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0001627	HP:0001638	Cardiomyopathy	2	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy			105
HP:0001627	HP:0001638	Cardiomyopathy	2	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2			105
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked			109
HP:0001627	HP:0001631	Atrial septal defect	2	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		5
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0001627	HP:0001631	Atrial septal defect	2	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		76
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0001627	HP:0001631	Atrial septal defect	2	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0001627	HP:0001631	Atrial septal defect	2	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0001627	HP:0001631	Atrial septal defect	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001638	Cardiomyopathy	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0001627	HP:0001638	Cardiomyopathy	2	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33	.
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0001627	HP:0001714	Ventricular hypertrophy	2	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14			27
HP:0001627	HP:0001631	Atrial septal defect	2	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.		27
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV			27
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV			27
HP:0001627	HP:0001701	Pericarditis	2	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0001627	HP:0100584	Endocarditis	2	C4A CL E G H	720	1323	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0001627	HP:0001638	Cardiomyopathy	2	CACNA1A CL E G H	773	1388	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040284 - Very rare		449
HP:0001627	HP:0001631	Atrial septal defect	2	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome			572
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome			572
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome			572
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome			572
HP:0001627	HP:0001631	Atrial septal defect	2	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities			51
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities			51
HP:0001627	HP:0001714	Ventricular hypertrophy	2	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities			51
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities			51
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities			51
HP:0001627	HP:0001714	Ventricular hypertrophy	2	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040281 - Very frequent		51
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome			51
HP:0001627	HP:0031320	Cardiomyocyte mitochondrial proliferation	2	CACNA1S CL E G H	779	1397	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent		247
HP:0001627	HP:0001698	Pericardial effusion	2	CALCRL CL E G H	10203	16709	OMIM:618773	LYMPHATIC MALFORMATION 8; LMPHM8			3
HP:0001627	HP:0030681	Abnormal morphology of myocardial trabeculae	2	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15			13
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CALM3 CL E G H	808	1449	OMIM:618782	LONG QT SYNDROME 16; LQT16			16
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome			85
HP:0001627	HP:0001638	Cardiomyopathy	2	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0001627	HP:0001631	Atrial septal defect	2	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001627	HP:0001638	Cardiomyopathy	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy			118
HP:0001627	HP:0001638	Cardiomyopathy	2	CASQ2 CL E G H	845	1513	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1			129
HP:0001627	HP:0001638	Cardiomyopathy	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0001627	HP:0001638	Cardiomyopathy	2	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy			11
HP:0001627	HP:0001638	Cardiomyopathy	2	CAV3 CL E G H	859	1529	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			148
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	CAV3 CL E G H	859	1529	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			148
HP:0001627	HP:0001638	Cardiomyopathy	2	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy			48
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	CBL CL E G H	867	1541	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		317
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0001627	HP:0001651	Dextrocardia	2	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome			1
HP:0001627	HP:0001696	Situs inversus totalis	2	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001651	Dextrocardia	2	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome			247
HP:0001627	HP:0001696	Situs inversus totalis	2	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		247
HP:0001627	HP:0001631	Atrial septal defect	2	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.		147
HP:0001627	HP:0001698	Pericardial effusion	2	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.		147
HP:0001627	HP:0005183	Pericardial lymphangiectasia	2	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.		147
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome			147
HP:0001627	HP:0001698	Pericardial effusion	2	CCBE1 CL E G H	147372	29426	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		147
HP:0001627	HP:0001651	Dextrocardia	2	CCDC103 CL E G H	388389	32700	OMIM:614679	Ciliary dyskinesia, primary, 17	HP:0040283 - Occasional		36
HP:0001627	HP:0001696	Situs inversus totalis	2	CCDC103 CL E G H	388389	32700	OMIM:614679	Ciliary dyskinesia, primary, 17	HP:0040283 - Occasional		36
HP:0001627	HP:0001651	Dextrocardia	2	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0001627	HP:0001696	Situs inversus totalis	2	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		36
HP:0001627	HP:0001719	Double outlet right ventricle	2	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		36
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		36
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation			1
HP:0001627	HP:0001631	Atrial septal defect	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent		33
HP:0001627	HP:0004383	Hypoplastic left heart	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent		33
HP:0001627	HP:0006695	Atrioventricular canal defect	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent		33
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0001627	HP:0001631	Atrial septal defect	2	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.		33
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2			33
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2			33
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0001627	HP:0001714	Ventricular hypertrophy	2	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1			4
HP:0001627	HP:0006695	Atrioventricular canal defect	2	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0001627	HP:0001651	Dextrocardia	2	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14			126
HP:0001627	HP:0001696	Situs inversus totalis	2	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14			126
HP:0001627	HP:0001651	Dextrocardia	2	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0001627	HP:0001696	Situs inversus totalis	2	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		126
HP:0001627	HP:0001719	Double outlet right ventricle	2	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		126
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		126
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0001627	HP:0001651	Dextrocardia	2	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15			182
HP:0001627	HP:0001696	Situs inversus totalis	2	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15			182
HP:0001627	HP:0001651	Dextrocardia	2	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0001627	HP:0001696	Situs inversus totalis	2	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		182
HP:0001627	HP:0001719	Double outlet right ventricle	2	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		182
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		182
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0001627	HP:0001651	Dextrocardia	2	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0001627	HP:0001696	Situs inversus totalis	2	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		23
HP:0001627	HP:0001719	Double outlet right ventricle	2	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		23
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		23
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0001627	HP:0001638	Cardiomyopathy	2	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		1
HP:0001627	HP:0012819	Myocarditis	2	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040284 - Very rare		1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CCND2 CL E G H	894	1583	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome			11
HP:0001627	HP:0001651	Dextrocardia	2	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0001627	HP:0001696	Situs inversus totalis	2	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		23
HP:0001627	HP:0001719	Double outlet right ventricle	2	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		23
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		23
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome			7
HP:0001627	HP:0011546	Abnormal atrioventricular connection	2	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome			7
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations			7
HP:0001627	HP:0001701	Pericarditis	2	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001627	HP:0100584	Endocarditis	2	CCR1 CL E G H	1230	1602	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome			83
HP:0001627	HP:0001631	Atrial septal defect	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001627	HP:0001631	Atrial septal defect	2	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.		9
HP:0001627	HP:0006695	Atrioventricular canal defect	2	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7			9
HP:0001627	HP:0001651	Dextrocardia	2	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0001627	HP:0006695	Atrioventricular canal defect	2	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	CDH2 CL E G H	1000	1759	OMIM:618920	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14
HP:0001627	HP:0001698	Pericardial effusion	2	CDH23 CL E G H	64072	13733	ORPHA:91347	TSH-secreting pituitary adenoma	HP:0040283 - Occasional		636
HP:0001627	HP:0001631	Atrial septal defect	2	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome	HP:0040284 - Very rare		2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome			2
HP:0001627	HP:0001631	Atrial septal defect	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.		8
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder			8
HP:0001627	HP:0001631	Atrial septal defect	2	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0001627	HP:0004383	Hypoplastic left heart	2	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy			405
HP:0001627	HP:0001638	Cardiomyopathy	2	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	.		114
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly			200
HP:0001627	HP:0001638	Cardiomyopathy	2	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive	.		20
HP:0001627	HP:0001651	Dextrocardia	2	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome			5
HP:0001627	HP:0001696	Situs inversus totalis	2	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		5
HP:0001627	HP:0001651	Dextrocardia	2	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome			7
HP:0001627	HP:0001696	Situs inversus totalis	2	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		7
HP:0001627	HP:0001651	Dextrocardia	2	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		7
HP:0001627	HP:0001651	Dextrocardia	2	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome			342
HP:0001627	HP:0001696	Situs inversus totalis	2	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		342
HP:0001627	HP:0001631	Atrial septal defect	2	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4			342
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4			342
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4			342
HP:0001627	HP:0001651	Dextrocardia	2	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome			90
HP:0001627	HP:0001696	Situs inversus totalis	2	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		90
HP:0001627	HP:0001651	Dextrocardia	2	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		90
HP:0001627	HP:0001631	Atrial septal defect	2	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		17
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0001627	HP:0001631	Atrial septal defect	2	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0001627	HP:0001651	Dextrocardia	2	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001696	Situs inversus totalis	2	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001719	Double outlet right ventricle	2	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001651	Dextrocardia	2	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0001627	HP:0001696	Situs inversus totalis	2	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0001627	HP:0001651	Dextrocardia	2	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001696	Situs inversus totalis	2	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001719	Double outlet right ventricle	2	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001651	Dextrocardia	2	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38	HP:0040284 - Very rare
HP:0001627	HP:0001696	Situs inversus totalis	2	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38	.
HP:0001627	HP:0001651	Dextrocardia	2	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001696	Situs inversus totalis	2	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001719	Double outlet right ventricle	2	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001631	Atrial septal defect	2	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0001627	HP:0001651	Dextrocardia	2	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0001627	HP:0001696	Situs inversus totalis	2	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0001627	HP:0006695	Atrioventricular canal defect	2	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0001627	HP:0001651	Dextrocardia	2	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0001627	HP:0001696	Situs inversus totalis	2	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0001627	HP:0001651	Dextrocardia	2	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal	.		17
HP:0001627	HP:0001696	Situs inversus totalis	2	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal			17
HP:0001627	HP:0001719	Double outlet right ventricle	2	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal			17
HP:0001627	HP:0004383	Hypoplastic left heart	2	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal			17
HP:0001627	HP:0006695	Atrioventricular canal defect	2	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal			17
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal			17
HP:0001627	HP:0011565	Common atrium	2	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal			17
HP:0001627	HP:0001651	Dextrocardia	2	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal	.		13
HP:0001627	HP:0001696	Situs inversus totalis	2	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal	.		13
HP:0001627	HP:0001719	Double outlet right ventricle	2	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal	.		13
HP:0001627	HP:0006695	Atrioventricular canal defect	2	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal	.		13
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal			13
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal			13
HP:0001627	HP:0011599	Mesocardia	2	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal	.		13
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0001627	HP:0001631	Atrial septal defect	2	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0001627	HP:0001631	Atrial septal defect	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.		515
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		515
HP:0001627	HP:0001719	Double outlet right ventricle	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.		515
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0001627	HP:0001638	Cardiomyopathy	2	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type			53
HP:0001627	HP:0001631	Atrial septal defect	2	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0001627	HP:0001631	Atrial septal defect	2	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040283 - Occasional		4
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome			4
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome			4
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome			4
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	CHRNG CL E G H	1146	1967	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional		68
HP:0001627	HP:0001631	Atrial septal defect	2	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.		27
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0001627	HP:0001631	Atrial septal defect	2	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0001627	HP:0001714	Ventricular hypertrophy	2	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0001627	HP:0001714	Ventricular hypertrophy	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations			165
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome			3
HP:0001627	HP:0001631	Atrial septal defect	2	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0001651	Dextrocardia	2	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0001696	Situs inversus totalis	2	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0001719	Double outlet right ventricle	2	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0001750	Single ventricle	2	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0004383	Hypoplastic left heart	2	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0006695	Atrioventricular canal defect	2	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0011540	Congenitally corrected transposition of the great arteries	2	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0011546	Abnormal atrioventricular connection	2	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0011565	Common atrium	2	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0001638	Cardiomyopathy	2	CISD2 CL E G H	493856	24212	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional		3
HP:0001627	HP:0001631	Atrial septal defect	2	CITED2 CL E G H	10370	1987	OMIM:614433	ATRIAL SEPTAL DEFECT 8; ASD8			5
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CITED2 CL E G H	10370	1987	OMIM:614433	ATRIAL SEPTAL DEFECT 8; ASD8			5
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type			5
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type			5
HP:0001627	HP:0025580	Abnormal right atrium morphology	2	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type			5
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type			5
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot			5
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CITED2 CL E G H	10370	1987	OMIM:614431	Ventricular septal defect 2			5
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome			7
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome			7
HP:0001627	HP:0001631	Atrial septal defect	2	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional		102
HP:0001627	HP:0001698	Pericardial effusion	2	CLCNKB CL E G H	1188	2027	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		27
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040282 - Frequent		4
HP:0001627	HP:0001631	Atrial septal defect	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001638	Cardiomyopathy	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0001627	HP:0001638	Cardiomyopathy	2	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3			216
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0001627	HP:0001714	Ventricular hypertrophy	2	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0001627	HP:0001638	Cardiomyopathy	2	CLPB CL E G H	81570	30664	ORPHA:445038	3-methylglutaconic aciduria type 7	HP:0040283 - Occasional		38
HP:0001627	HP:0001638	Cardiomyopathy	2	COA5 CL E G H	493753	33848	OMIM:616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3			2
HP:0001627	HP:0031320	Cardiomyocyte mitochondrial proliferation	2	COA5 CL E G H	493753	33848	OMIM:616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3			2
HP:0001627	HP:0001638	Cardiomyopathy	2	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4			8
HP:0001627	HP:0030681	Abnormal morphology of myocardial trabeculae	2	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4			8
HP:0001627	HP:0001638	Cardiomyopathy	2	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG			52
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0001627	HP:0001714	Ventricular hypertrophy	2	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0001627	HP:0001631	Atrial septal defect	2	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0001627	HP:0001631	Atrial septal defect	2	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0001627	HP:0001651	Dextrocardia	2	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional		177
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0001627	HP:0001631	Atrial septal defect	2	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1			373
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1			373
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I			373
HP:0001627	HP:0001631	Atrial septal defect	2	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional		243
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0001627	HP:0001714	Ventricular hypertrophy	2	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form			243
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1			284
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0001627	HP:0001638	Cardiomyopathy	2	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form			263
HP:0001627	HP:0001638	Cardiomyopathy	2	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			263
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes			90
HP:0001627	HP:0001714	Ventricular hypertrophy	2	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes			90
HP:0001627	HP:0001631	Atrial septal defect	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		6
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		6
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0001627	HP:0001638	Cardiomyopathy	2	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1			54
HP:0001627	HP:0001638	Cardiomyopathy	2	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7			24
HP:0001627	HP:0004383	Hypoplastic left heart	2	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7	HP:0040284 - Very rare		24
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7			24
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0001627	HP:0001714	Ventricular hypertrophy	2	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8			1
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5			44
HP:0001627	HP:0001714	Ventricular hypertrophy	2	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5			44
HP:0001627	HP:0001638	Cardiomyopathy	2	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001714	Ventricular hypertrophy	2	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001638	Cardiomyopathy	2	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0001627	HP:0001638	Cardiomyopathy	2	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10			4
HP:0001627	HP:0001638	Cardiomyopathy	2	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0001627	HP:0001638	Cardiomyopathy	2	COX15 CL E G H	1355	2263	OMIM:615119	Mitochondrial complex IV deficiency, nuclear type 6	.		104
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0001627	HP:0001714	Ventricular hypertrophy	2	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0001627	HP:0001638	Cardiomyopathy	2	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001714	Ventricular hypertrophy	2	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001638	Cardiomyopathy	2	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001714	Ventricular hypertrophy	2	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001638	Cardiomyopathy	2	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0001627	HP:0001714	Ventricular hypertrophy	2	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0001627	HP:0001631	Atrial septal defect	2	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040283 - Occasional		6
HP:0001627	HP:0001714	Ventricular hypertrophy	2	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040283 - Occasional		6
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0001627	HP:0001638	Cardiomyopathy	2	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0001627	HP:0001631	Atrial septal defect	2	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.		6
HP:0001627	HP:0001638	Cardiomyopathy	2	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7			6
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7			6
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7			6
HP:0001627	HP:0001631	Atrial septal defect	2	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0001627	HP:0001651	Dextrocardia	2	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0001627	HP:0001696	Situs inversus totalis	2	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0001627	HP:0004383	Hypoplastic left heart	2	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0001627	HP:0001631	Atrial septal defect	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		1
HP:0001627	HP:0001631	Atrial septal defect	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome			1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0001627	HP:0001638	Cardiomyopathy	2	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency			99
HP:0001627	HP:0001638	Cardiomyopathy	2	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040282 - Frequent		101
HP:0001627	HP:0001638	Cardiomyopathy	2	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040283 - Occasional		101
HP:0001627	HP:0001714	Ventricular hypertrophy	2	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040283 - Occasional		101
HP:0001627	HP:0001638	Cardiomyopathy	2	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile			101
HP:0001627	HP:0001638	Cardiomyopathy	2	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal			101
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CRB2 CL E G H	286204	18688	OMIM:219730	Ventriculomegaly with cystic kidney disease			12
HP:0001627	HP:0001631	Atrial septal defect	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001627	HP:0004383	Hypoplastic left heart	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001627	HP:0001631	Atrial septal defect	2	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional		291
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0001627	HP:0001631	Atrial septal defect	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional		291
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0001627	HP:0001651	Dextrocardia	2	CRELD1 CL E G H	78987	14630	OMIM:606217	Atrioventricular septal defect, susceptibility to, 2	.		19
HP:0001627	HP:0006695	Atrioventricular canal defect	2	CRELD1 CL E G H	78987	14630	OMIM:606217	Atrioventricular septal defect, susceptibility to, 2	.		19
HP:0001627	HP:0001631	Atrial septal defect	2	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome
HP:0001627	HP:0001638	Cardiomyopathy	2	CRYAB CL E G H	1410	2389	ORPHA:399058	Alpha-B crystallin-related late-onset myopathy	HP:0040283 - Occasional		46
HP:0001627	HP:0001638	Cardiomyopathy	2	CRYAB CL E G H	1410	2389	OMIM:615184	Cardiomyopathy, dilated, 1ii			46
HP:0001627	HP:0001638	Cardiomyopathy	2	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy			46
HP:0001627	HP:0001638	Cardiomyopathy	2	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2			46
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome
HP:0001627	HP:0001631	Atrial septal defect	2	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001627	HP:0001651	Dextrocardia	2	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome			57
HP:0001627	HP:0001696	Situs inversus totalis	2	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		57
HP:0001627	HP:0001651	Dextrocardia	2	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome			57
HP:0001627	HP:0001696	Situs inversus totalis	2	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		57
HP:0001627	HP:0001638	Cardiomyopathy	2	CSRP3 CL E G H	8048	2472	OMIM:607482	CARDIOMYOPATHY, DILATED, 1M; CMD1M			104
HP:0001627	HP:0001706	Endocardial fibroelastosis	2	CSRP3 CL E G H	8048	2472	OMIM:607482	CARDIOMYOPATHY, DILATED, 1M; CMD1M			104
HP:0001627	HP:0001638	Cardiomyopathy	2	CSRP3 CL E G H	8048	2472	OMIM:612124	Cardiomyopathy, familial hypertrophic, 12	.		104
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CSRP3 CL E G H	8048	2472	OMIM:612124	Cardiomyopathy, familial hypertrophic, 12			104
HP:0001627	HP:0001638	Cardiomyopathy	2	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy			104
HP:0001627	HP:0001631	Atrial septal defect	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001627	HP:0001631	Atrial septal defect	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		2
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0001627	HP:0001631	Atrial septal defect	2	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040282 - Frequent		20
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder			20
HP:0001627	HP:0001631	Atrial septal defect	2	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0001627	HP:0001701	Pericarditis	2	CTLA4 CL E G H	1493	2505	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		10
HP:0001627	HP:0001701	Pericarditis	2	CTLA4 CL E G H	1493	2505	OMIM:152700	Systemic lupus erythematosus	.		10
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	CTNNA3 CL E G H	29119	2511	OMIM:615616	Arrhythmogenic right ventricular dysplasia, familial, 13			98
HP:0001627	HP:0001631	Atrial septal defect	2	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.		1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome			1
HP:0001627	HP:0010954	Hypoplastic right heart	2	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome			1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome			1
HP:0001627	HP:0001631	Atrial septal defect	2	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS			92
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS			92
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome			4
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome			9
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	CYP27A1 CL E G H	1593	2605	ORPHA:909	Cerebrotendinous xanthomatosis	HP:0040283 - Occasional		114
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001714	Ventricular hypertrophy	2	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001638	Cardiomyopathy	2	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1	.		102
HP:0001627	HP:0001631	Atrial septal defect	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		2
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		2
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach
HP:0001627	HP:0001638	Cardiomyopathy	2	DCAF8 CL E G H	50717	24891	OMIM:610100	Giant axonal neuropathy, autosomal dominant	.		2
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	DCHS1 CL E G H	8642	13681	OMIM:607829	Mitral valve prolapse, myxomatous 2			27
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome			13
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome			13
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102			57
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5			2
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0001627	HP:0001631	Atrial septal defect	2	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001627	HP:0001631	Atrial septal defect	2	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001627	HP:0001638	Cardiomyopathy	2	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001627	HP:0001714	Ventricular hypertrophy	2	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001627	HP:0006695	Atrioventricular canal defect	2	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001627	HP:0001638	Cardiomyopathy	2	DES CL E G H	1674	2770	OMIM:604765	CARDIOMYOPATHY, DILATED, 1I; CMD1I			263
HP:0001627	HP:0001638	Cardiomyopathy	2	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy			263
HP:0001627	HP:0001638	Cardiomyopathy	2	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy			263
HP:0001627	HP:0001638	Cardiomyopathy	2	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1			263
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0001631	Atrial septal defect	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent		159
HP:0001627	HP:0001631	Atrial septal defect	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0001627	HP:0001638	Cardiomyopathy	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0001627	HP:0006695	Atrioventricular canal defect	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent		159
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome			159
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly			22
HP:0001627	HP:0001638	Cardiomyopathy	2	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency			89
HP:0001627	HP:0001638	Cardiomyopathy	2	DLD CL E G H	1738	2898	ORPHA:2394	Pyruvate dehydrogenase E3 deficiency	HP:0040283 - Occasional		89
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001627	HP:0001631	Atrial septal defect	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0001627	HP:0001638	Cardiomyopathy	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly			3
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		9
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6			9
HP:0001627	HP:0001638	Cardiomyopathy	2	DMD CL E G H	1756	2928	OMIM:302045	Cardiomyopathy, dilated, 3B			1496
HP:0001627	HP:0001638	Cardiomyopathy	2	DMD CL E G H	1756	2928	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent		1496
HP:0001627	HP:0001638	Cardiomyopathy	2	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy	.		1496
HP:0001627	HP:0001638	Cardiomyopathy	2	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy			1496
HP:0001627	HP:0001638	Cardiomyopathy	2	DMD CL E G H	1756	2928	OMIM:300376	Muscular dystrophy, Becker type	.	HP:0003584 - Late onset	1496
HP:0001627	HP:0001638	Cardiomyopathy	2	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0001627	HP:0001714	Ventricular hypertrophy	2	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0001627	HP:0001651	Dextrocardia	2	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13			116
HP:0001627	HP:0001696	Situs inversus totalis	2	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13	.		116
HP:0001627	HP:0001651	Dextrocardia	2	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0001627	HP:0001696	Situs inversus totalis	2	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		116
HP:0001627	HP:0001719	Double outlet right ventricle	2	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		116
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		116
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0001627	HP:0001651	Dextrocardia	2	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19
HP:0001627	HP:0001696	Situs inversus totalis	2	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19	HP:0040282 - Frequent
HP:0001627	HP:0001651	Dextrocardia	2	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001696	Situs inversus totalis	2	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001719	Double outlet right ventricle	2	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001651	Dextrocardia	2	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10			78
HP:0001627	HP:0001696	Situs inversus totalis	2	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10			78
HP:0001627	HP:0001651	Dextrocardia	2	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0001627	HP:0001696	Situs inversus totalis	2	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		78
HP:0001627	HP:0001719	Double outlet right ventricle	2	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		78
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		78
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0001627	HP:0001651	Dextrocardia	2	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2	.		63
HP:0001627	HP:0001696	Situs inversus totalis	2	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2	.		63
HP:0001627	HP:0001651	Dextrocardia	2	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0001627	HP:0001696	Situs inversus totalis	2	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		63
HP:0001627	HP:0001719	Double outlet right ventricle	2	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		63
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		63
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0001627	HP:0001651	Dextrocardia	2	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25	HP:0040283 - Occasional		27
HP:0001627	HP:0001696	Situs inversus totalis	2	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25	.		27
HP:0001627	HP:0001651	Dextrocardia	2	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0001627	HP:0001696	Situs inversus totalis	2	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		27
HP:0001627	HP:0001719	Double outlet right ventricle	2	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		27
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		27
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0001627	HP:0001651	Dextrocardia	2	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18			62
HP:0001627	HP:0001696	Situs inversus totalis	2	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18	HP:0040282 - Frequent		62
HP:0001627	HP:0001651	Dextrocardia	2	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0001627	HP:0001696	Situs inversus totalis	2	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		62
HP:0001627	HP:0001719	Double outlet right ventricle	2	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		62
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		62
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0001627	HP:0001651	Dextrocardia	2	DNAAF6 CL E G H	139212	28570	OMIM:300991	Ciliary dyskinesia, primary, 36, X-linked
HP:0001627	HP:0001696	Situs inversus totalis	2	DNAAF6 CL E G H	139212	28570	OMIM:300991	Ciliary dyskinesia, primary, 36, X-linked	.
HP:0001627	HP:0001651	Dextrocardia	2	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001696	Situs inversus totalis	2	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001719	Double outlet right ventricle	2	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001651	Dextrocardia	2	DNAH1 CL E G H	25981	2940	OMIM:617577	Ciliary dyskinesia, primary, 37	.		21
HP:0001627	HP:0001696	Situs inversus totalis	2	DNAH1 CL E G H	25981	2940	OMIM:617577	Ciliary dyskinesia, primary, 37	.		21
HP:0001627	HP:0001651	Dextrocardia	2	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0001627	HP:0001696	Situs inversus totalis	2	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		21
HP:0001627	HP:0001719	Double outlet right ventricle	2	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		21
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		21
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0001627	HP:0001651	Dextrocardia	2	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7			542
HP:0001627	HP:0001696	Situs inversus totalis	2	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7			542
HP:0001627	HP:0001651	Dextrocardia	2	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0001627	HP:0001696	Situs inversus totalis	2	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		542
HP:0001627	HP:0001719	Double outlet right ventricle	2	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		542
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		542
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0001627	HP:0001651	Dextrocardia	2	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3			527
HP:0001627	HP:0001696	Situs inversus totalis	2	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3			527
HP:0001627	HP:0001651	Dextrocardia	2	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0001627	HP:0001696	Situs inversus totalis	2	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		527
HP:0001627	HP:0001719	Double outlet right ventricle	2	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		527
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		527
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0001627	HP:0001651	Dextrocardia	2	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40			18
HP:0001627	HP:0001696	Situs inversus totalis	2	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40	.		18
HP:0001627	HP:0006695	Atrioventricular canal defect	2	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40			18
HP:0001627	HP:0011540	Congenitally corrected transposition of the great arteries	2	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40			18
HP:0001627	HP:0001651	Dextrocardia	2	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0001627	HP:0001696	Situs inversus totalis	2	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		18
HP:0001627	HP:0001719	Double outlet right ventricle	2	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		18
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		18
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0001627	HP:0001651	Dextrocardia	2	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1			73
HP:0001627	HP:0001696	Situs inversus totalis	2	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1	.		73
HP:0001627	HP:0001651	Dextrocardia	2	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0001627	HP:0001696	Situs inversus totalis	2	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		73
HP:0001627	HP:0001719	Double outlet right ventricle	2	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		73
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		73
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0001627	HP:0001651	Dextrocardia	2	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9			104
HP:0001627	HP:0001696	Situs inversus totalis	2	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9			104
HP:0001627	HP:0001651	Dextrocardia	2	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0001627	HP:0001696	Situs inversus totalis	2	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		104
HP:0001627	HP:0001719	Double outlet right ventricle	2	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		104
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		104
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0001627	HP:0001651	Dextrocardia	2	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0001627	HP:0001696	Situs inversus totalis	2	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		2
HP:0001627	HP:0001719	Double outlet right ventricle	2	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		2
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		2
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0001627	HP:0001638	Cardiomyopathy	2	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V			25
HP:0001627	HP:0001638	Cardiomyopathy	2	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0001627	HP:0001700	Myocardial necrosis	2	DNAJC21 CL E G H	134218	27030	OMIM:260400	Shwachman-Diamond syndrome 1	.		5
HP:0001627	HP:0001631	Atrial septal defect	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001638	Cardiomyopathy	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0001627	HP:0001651	Dextrocardia	2	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16			167
HP:0001627	HP:0001696	Situs inversus totalis	2	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16			167
HP:0001627	HP:0001651	Dextrocardia	2	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0001627	HP:0001696	Situs inversus totalis	2	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		167
HP:0001627	HP:0001719	Double outlet right ventricle	2	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		167
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		167
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0001627	HP:0001701	Pericarditis	2	DNASE1 CL E G H	1773	2956	OMIM:152700	Systemic lupus erythematosus	.		3
HP:0001627	HP:0001698	Pericardial effusion	2	DNASE1L3 CL E G H	1776	2959	ORPHA:36412	Hypocomplementemic urticarial vasculitis	HP:0040283 - Occasional		3
HP:0001627	HP:0001631	Atrial septal defect	2	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional		44
HP:0001627	HP:0001631	Atrial septal defect	2	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional		44
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome			44
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		18
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0001627	HP:0001631	Atrial septal defect	2	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001627	HP:0006695	Atrioventricular canal defect	2	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001627	HP:0001638	Cardiomyopathy	2	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im			55
HP:0001627	HP:0001638	Cardiomyopathy	2	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0001627	HP:0001685	Myocardial fibrosis	2	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0001627	HP:0031319	Cardiomyocyte hypertrophy	2	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0001627	HP:0001638	Cardiomyopathy	2	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy			55
HP:0001627	HP:0001631	Atrial septal defect	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0001627	HP:0001631	Atrial septal defect	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001627	HP:0001631	Atrial septal defect	2	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040283 - Occasional		3
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair			3
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0001627	HP:0001631	Atrial septal defect	2	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001627	HP:0001698	Pericardial effusion	2	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001627	HP:0001638	Cardiomyopathy	2	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG			9
HP:0001627	HP:0001638	Cardiomyopathy	2	DPM3 CL E G H	54344	3007	OMIM:612937	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15			9
HP:0001627	HP:0001651	Dextrocardia	2	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0001627	HP:0001696	Situs inversus totalis	2	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		44
HP:0001627	HP:0001719	Double outlet right ventricle	2	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		44
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		44
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0001627	HP:0001638	Cardiomyopathy	2	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11			268
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11			268
HP:0001627	HP:0001631	Atrial septal defect	2	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2			13
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2			13
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2			13
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	DSG1 CL E G H	1828	3048	OMIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige			16
HP:0001627	HP:0001638	Cardiomyopathy	2	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10			358
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10			358
HP:0001627	HP:0001638	Cardiomyopathy	2	DSG2 CL E G H	1829	3049	OMIM:612877	CARDIOMYOPATHY, DILATED, 1BB; CMD1BB			358
HP:0001627	HP:0001638	Cardiomyopathy	2	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy			358
HP:0001627	HP:0001638	Cardiomyopathy	2	DSP CL E G H	1832	3052	OMIM:607450	Arrhythmogenic right ventricular dysplasia, familial, 8			747
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	DSP CL E G H	1832	3052	OMIM:607450	Arrhythmogenic right ventricular dysplasia, familial, 8			747
HP:0001627	HP:0001638	Cardiomyopathy	2	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma			747
HP:0001627	HP:0031319	Cardiomyocyte hypertrophy	2	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma	.		747
HP:0001627	HP:0001638	Cardiomyopathy	2	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis			747
HP:0001627	HP:0001638	Cardiomyopathy	2	DSP CL E G H	1832	3052	ORPHA:65282	Carvajal syndrome			747
HP:0001627	HP:0001638	Cardiomyopathy	2	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy			747
HP:0001627	HP:0001638	Cardiomyopathy	2	DSP CL E G H	1832	3052	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional		747
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0001627	HP:0001638	Cardiomyopathy	2	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1			163
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1			163
HP:0001627	HP:0001714	Ventricular hypertrophy	2	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1			163
HP:0001627	HP:0004383	Hypoplastic left heart	2	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1	.		163
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1			163
HP:0001627	HP:0030681	Abnormal morphology of myocardial trabeculae	2	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1			163
HP:0001627	HP:0001631	Atrial septal defect	2	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0001627	HP:0010954	Hypoplastic right heart	2	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI
HP:0001627	HP:0001631	Atrial septal defect	2	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		7
HP:0001627	HP:0001651	Dextrocardia	2	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		7
HP:0001627	HP:0001696	Situs inversus totalis	2	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		7
HP:0001627	HP:0006695	Atrioventricular canal defect	2	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		7
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome			7
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome			7
HP:0001627	HP:0006695	Atrioventricular canal defect	2	DYNC2LI1 CL E G H	51626	24595	OMIM:617088	Short-rib thoracic dysplasia 15 with polydactyly	.		7
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040284 - Very rare		134
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion			134
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation			134
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2			600
HP:0001627	HP:0001714	Ventricular hypertrophy	2	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2			600
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	DZIP1 CL E G H	22873	20908	OMIM:610840	MITRAL VALVE PROLAPSE 3; MVP3
HP:0001627	HP:0001631	Atrial septal defect	2	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	.		13
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction			13
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction			13
HP:0001627	HP:0001638	Cardiomyopathy	2	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0001627	HP:0001638	Cardiomyopathy	2	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia			3
HP:0001627	HP:0006698	Dilatation of the ventricular cavity	2	EFEMP2 CL E G H	30008	3219	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional		45
HP:0001627	HP:0001631	Atrial septal defect	2	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.		48
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type			48
HP:0001627	HP:0001631	Atrial septal defect	2	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040283 - Occasional		48
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome			48
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease			257
HP:0001627	HP:0001714	Ventricular hypertrophy	2	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease			257
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion			223
HP:0001627	HP:0001631	Atrial septal defect	2	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040284 - Very rare		65
HP:0001627	HP:0001719	Double outlet right ventricle	2	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040284 - Very rare		65
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0001627	HP:0001698	Pericardial effusion	2	EIF2AK4 CL E G H	440275	19687	ORPHA:199241	Pulmonary capillary hemangiomatosis	HP:0040284 - Very rare		40
HP:0001627	HP:0001631	Atrial septal defect	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001638	Cardiomyopathy	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0001627	HP:0001638	Cardiomyopathy	2	ELAC2 CL E G H	60528	14198	OMIM:615440	Combined oxidative phosphorylation deficiency 17			67
HP:0001627	HP:0006698	Dilatation of the ventricular cavity	2	ELN CL E G H	2006	3327	ORPHA:90348	Autosomal dominant cutis laxa			172
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1			172
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			172
HP:0001627	HP:0001631	Atrial septal defect	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0001627	HP:0001638	Cardiomyopathy	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0001627	HP:0001631	Atrial septal defect	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0001627	HP:0001638	Cardiomyopathy	2	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			107
HP:0001627	HP:0001638	Cardiomyopathy	2	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1			151
HP:0001627	HP:0001698	Pericardial effusion	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		151
HP:0001627	HP:0001714	Ventricular hypertrophy	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040283 - Occasional		151
HP:0001627	HP:0006690	Myocardial calcification	2	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare		151
HP:0001627	HP:0001638	Cardiomyopathy	2	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum			151
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum			151
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		4
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0001627	HP:0001631	Atrial septal defect	2	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4	HP:0040283 - Occasional		4
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4			4
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4			4
HP:0001627	HP:0001631	Atrial septal defect	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001627	HP:0004383	Hypoplastic left heart	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001627	HP:0001631	Atrial septal defect	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional		250
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0001627	HP:0001638	Cardiomyopathy	2	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis			51
HP:0001627	HP:0100571	Cardiac diverticulum	2	EPCAM CL E G H	4072	11529	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		170
HP:0001627	HP:0001631	Atrial septal defect	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0001627	HP:0001638	Cardiomyopathy	2	EPG5 CL E G H	57724	29331	ORPHA:1493	Vici syndrome	HP:0040281 - Very frequent		40
HP:0001627	HP:0001638	Cardiomyopathy	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.		40
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0001627	HP:0001714	Ventricular hypertrophy	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0001627	HP:0001631	Atrial septal defect	2	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7	HP:0040283 - Occasional		3
HP:0001627	HP:0001698	Pericardial effusion	2	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7	.		3
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7			3
HP:0001627	HP:0001701	Pericarditis	2	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0001627	HP:0100584	Endocarditis	2	ERAP1 CL E G H	51752	18173	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0001627	HP:0001638	Cardiomyopathy	2	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2			12
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2			12
HP:0001627	HP:0001638	Cardiomyopathy	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy			106
HP:0001627	HP:0001638	Cardiomyopathy	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy			54
HP:0001627	HP:0001631	Atrial septal defect	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		158
HP:0001627	HP:0001638	Cardiomyopathy	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		158
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0001627	HP:0001631	Atrial septal defect	2	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q			158
HP:0001627	HP:0006695	Atrioventricular canal defect	2	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q			158
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q			158
HP:0001627	HP:0001638	Cardiomyopathy	2	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare		199
HP:0001627	HP:0001638	Cardiomyopathy	2	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare		55
HP:0001627	HP:0001631	Atrial septal defect	2	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	ESPN CL E G H	83715	13281	OMIM:618632	USHER SYNDROME, TYPE 1M; USH1M			33
HP:0001627	HP:0001714	Ventricular hypertrophy	2	ESPN CL E G H	83715	13281	OMIM:618632	USHER SYNDROME, TYPE 1M; USH1M			33
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0001631	Atrial septal defect	2	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		209
HP:0001627	HP:0001651	Dextrocardia	2	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		209
HP:0001627	HP:0001696	Situs inversus totalis	2	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		209
HP:0001627	HP:0006695	Atrioventricular canal defect	2	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		209
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome			209
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome			209
HP:0001627	HP:0001631	Atrial septal defect	2	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.		209
HP:0001627	HP:0011565	Common atrium	2	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.		209
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome			209
HP:0001627	HP:0001631	Atrial septal defect	2	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		137
HP:0001627	HP:0001651	Dextrocardia	2	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		137
HP:0001627	HP:0001696	Situs inversus totalis	2	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		137
HP:0001627	HP:0006695	Atrioventricular canal defect	2	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		137
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome			137
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome			137
HP:0001627	HP:0001631	Atrial septal defect	2	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.		137
HP:0001627	HP:0011565	Common atrium	2	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.		137
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome			137
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome			102
HP:0001627	HP:0001631	Atrial septal defect	2	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040283 - Occasional		102
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome			102
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0001627	HP:0001638	Cardiomyopathy	2	EYA4 CL E G H	2070	3522	OMIM:605362	Cardiomyopathy, dilated, 1J			111
HP:0001627	HP:0001638	Cardiomyopathy	2	EYA4 CL E G H	2070	3522	ORPHA:217622	Sensorineural deafness with dilated cardiomyopathy			111
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	FADD CL E G H	8772	3573	ORPHA:306550	FADD-related immunodeficiency			3
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS			3
HP:0001627	HP:0001638	Cardiomyopathy	2	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I			107
HP:0001627	HP:0100571	Cardiac diverticulum	2	FAN1 CL E G H	22909	29170	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		15
HP:0001627	HP:0001631	Atrial septal defect	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		340
HP:0001627	HP:0001638	Cardiomyopathy	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		340
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0001627	HP:0001631	Atrial septal defect	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		58
HP:0001627	HP:0001638	Cardiomyopathy	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		58
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0001627	HP:0001651	Dextrocardia	2	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked			58
HP:0001627	HP:0006695	Atrioventricular canal defect	2	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked	.		58
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked			58
HP:0001627	HP:0001631	Atrial septal defect	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		410
HP:0001627	HP:0001638	Cardiomyopathy	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		410
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0001627	HP:0001631	Atrial septal defect	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		147
HP:0001627	HP:0001638	Cardiomyopathy	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		147
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0001627	HP:0001631	Atrial septal defect	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0001627	HP:0001638	Cardiomyopathy	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0001627	HP:0001631	Atrial septal defect	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		87
HP:0001627	HP:0001638	Cardiomyopathy	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		87
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0001627	HP:0001631	Atrial septal defect	2	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001627	HP:0001631	Atrial septal defect	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0001627	HP:0001638	Cardiomyopathy	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0001627	HP:0001631	Atrial septal defect	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		157
HP:0001627	HP:0001638	Cardiomyopathy	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		157
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0001627	HP:0001631	Atrial septal defect	2	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.		157
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I			157
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I			157
HP:0001627	HP:0001631	Atrial septal defect	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		53
HP:0001627	HP:0001638	Cardiomyopathy	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		53
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0001627	HP:0001631	Atrial septal defect	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		107
HP:0001627	HP:0001638	Cardiomyopathy	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		107
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0001627	HP:0001701	Pericarditis	2	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional		59
HP:0001627	HP:0100584	Endocarditis	2	FAS CL E G H	355	11920	ORPHA:117	Behçet disease	HP:0040283 - Occasional		59
HP:0001627	HP:0001638	Cardiomyopathy	2	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44			122
HP:0001627	HP:0005183	Pericardial lymphangiectasia	2	FAT4 CL E G H	79633	23109	OMIM:616006	HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 2; HKLLS2			114
HP:0001627	HP:0001698	Pericardial effusion	2	FAT4 CL E G H	79633	23109	ORPHA:2136	Hennekam syndrome	HP:0040283 - Occasional		114
HP:0001627	HP:0006698	Dilatation of the ventricular cavity	2	FBLN5 CL E G H	10516	3602	ORPHA:90348	Autosomal dominant cutis laxa			63
HP:0001627	HP:0006698	Dilatation of the ventricular cavity	2	FBLN5 CL E G H	10516	3602	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional		63
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			1361
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2			1361
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0001627	HP:0005146	Cardiac valve calcification	2	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	FBN1 CL E G H	2200	3603	OMIM:604308	MASS SYNDROME			1361
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome			1361
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent		1361
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS			1361
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome			1361
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant			1361
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly			655
HP:0001627	HP:0001631	Atrial septal defect	2	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.		655
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0001627	HP:0001638	Cardiomyopathy	2	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)			384
HP:0001627	HP:0001631	Atrial septal defect	2	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0001627	HP:0001701	Pericarditis	2	FCGR2A CL E G H	2212	3616	OMIM:152700	Systemic lupus erythematosus	.		6
HP:0001627	HP:0001701	Pericarditis	2	FCGR2B CL E G H	2213	3618	OMIM:152700	Systemic lupus erythematosus	.		2
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0001627	HP:0001631	Atrial septal defect	2	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly			17
HP:0001627	HP:0001631	Atrial septal defect	2	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.		172
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis			172
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis			172
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis			172
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis			172
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly			172
HP:0001627	HP:0001631	Atrial septal defect	2	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.		175
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			175
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome			175
HP:0001627	HP:0001631	Atrial septal defect	2	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040283 - Occasional		145
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1			145
HP:0001627	HP:0001631	Atrial septal defect	2	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2	HP:0040283 - Occasional		145
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2			145
HP:0001627	HP:0001631	Atrial septal defect	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001627	HP:0001638	Cardiomyopathy	2	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset			68
HP:0001627	HP:0001638	Cardiomyopathy	2	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy			68
HP:0001627	HP:0001638	Cardiomyopathy	2	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.		68
HP:0001627	HP:0001714	Ventricular hypertrophy	2	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome	.		68
HP:0001627	HP:0001638	Cardiomyopathy	2	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy			68
HP:0001627	HP:0001638	Cardiomyopathy	2	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy			36
HP:0001627	HP:0001638	Cardiomyopathy	2	FHOD3 CL E G H	80206	26178	OMIM:619402	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0001627	HP:4000004	Myocardial late gadolinium enhancement	2	FHOD3 CL E G H	80206	26178	OMIM:619402	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0001627	HP:0025579	Abnormal left atrium morphology	2	FHOD3 CL E G H	80206	26178	OMIM:619402	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040283 - Occasional		2
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0001627	HP:0001631	Atrial septal defect	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001627	HP:0001631	Atrial septal defect	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional		111
HP:0001627	HP:0001638	Cardiomyopathy	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		111
HP:0001627	HP:0001638	Cardiomyopathy	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0001627	HP:0001631	Atrial septal defect	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001638	Cardiomyopathy	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0001627	HP:0001638	Cardiomyopathy	2	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040284 - Very rare		157
HP:0001627	HP:0001638	Cardiomyopathy	2	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9			157
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5			157
HP:0001627	HP:0001714	Ventricular hypertrophy	2	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5			157
HP:0001627	HP:0001638	Cardiomyopathy	2	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5			157
HP:0001627	HP:0001638	Cardiomyopathy	2	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X			184
HP:0001627	HP:0001638	Cardiomyopathy	2	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type			184
HP:0001627	HP:0001638	Cardiomyopathy	2	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy			184
HP:0001627	HP:0001631	Atrial septal defect	2	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.		184
HP:0001627	HP:0001638	Cardiomyopathy	2	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4			184
HP:0001627	HP:0001685	Myocardial fibrosis	2	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.		184
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4			184
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4			184
HP:0001627	HP:0001638	Cardiomyopathy	2	FLAD1 CL E G H	80308	24671	OMIM:255100	Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency	HP:0040283 - Occasional		18
HP:0001627	HP:0001631	Atrial septal defect	2	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome	.		332
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome			332
HP:0001627	HP:0004383	Hypoplastic left heart	2	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040283 - Occasional		8
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome			8
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked			493
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked			493
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia			493
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia			493
HP:0001627	HP:0025580	Abnormal right atrium morphology	2	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia			493
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	FLNA CL E G H	2316	3754	OMIM:300049	Heterotopia, periventricular, X-linked dominant			493
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0001627	HP:0001631	Atrial septal defect	2	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0001627	HP:0001638	Cardiomyopathy	2	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0001627	HP:0001631	Atrial septal defect	2	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.		233
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome			233
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome			233
HP:0001627	HP:0001638	Cardiomyopathy	2	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26			197
HP:0001627	HP:0025579	Abnormal left atrium morphology	2	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26			197
HP:0001627	HP:0025580	Abnormal right atrium morphology	2	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26			197
HP:0001627	HP:0001638	Cardiomyopathy	2	FLNC CL E G H	2318	3756	ORPHA:63273	Distal myopathy with posterior leg and anterior hand involvement	HP:0040283 - Occasional		197
HP:0001627	HP:0001638	Cardiomyopathy	2	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy			197
HP:0001627	HP:0001685	Myocardial fibrosis	2	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy			197
HP:0001627	HP:0025579	Abnormal left atrium morphology	2	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy			197
HP:0001627	HP:0025580	Abnormal right atrium morphology	2	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy			197
HP:0001627	HP:0001638	Cardiomyopathy	2	FLNC CL E G H	2318	3756	OMIM:614065	Myopathy, distal, 4	.		197
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	FLT4 CL E G H	2324	3767	OMIM:618780	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7			90
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	FLT4 CL E G H	2324	3767	OMIM:618780	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7			90
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot			90
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	FMN2 CL E G H	56776	14074	OMIM:616193	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47			44
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome			30
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome			30
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers			30
HP:0001627	HP:0001638	Cardiomyopathy	2	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93			1
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93			1
HP:0001627	HP:0001631	Atrial septal defect	2	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0001627	HP:0006698	Dilatation of the ventricular cavity	2	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0001627	HP:0025579	Abnormal left atrium morphology	2	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0001627	HP:0001638	Cardiomyopathy	2	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy
HP:0001627	HP:0001631	Atrial septal defect	2	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3	.		63
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3			63
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			23
HP:0001627	HP:0001631	Atrial septal defect	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0001714	Ventricular hypertrophy	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0004383	Hypoplastic left heart	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0006695	Atrioventricular canal defect	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0001631	Atrial septal defect	2	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional		61
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0001627	HP:0004383	Hypoplastic left heart	2	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040282 - Frequent		61
HP:0001627	HP:0006695	Atrioventricular canal defect	2	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional		61
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly			48
HP:0001627	HP:0001651	Dextrocardia	2	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001696	Situs inversus totalis	2	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001719	Double outlet right ventricle	2	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001638	Cardiomyopathy	2	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0001627	HP:0001638	Cardiomyopathy	2	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0001627	HP:0001638	Cardiomyopathy	2	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19			61
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies			198
HP:0001627	HP:0001631	Atrial septal defect	2	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0001627	HP:0001631	Atrial septal defect	2	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria	HP:0040284 - Very rare		65
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria			65
HP:0001627	HP:0001638	Cardiomyopathy	2	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath			70
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath			70
HP:0001627	HP:0001638	Cardiomyopathy	2	FXN CL E G H	2395	3951	ORPHA:95	Friedreich ataxia	HP:0040282 - Frequent		18
HP:0001627	HP:0001638	Cardiomyopathy	2	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1			18
HP:0001627	HP:0001631	Atrial septal defect	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.		37
HP:0001627	HP:0010774	Cor triatriatum	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.		37
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0001627	HP:0001638	Cardiomyopathy	2	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset			407
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset			407
HP:0001627	HP:0001714	Ventricular hypertrophy	2	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset			407
HP:0001627	HP:0001638	Cardiomyopathy	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease			6
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly			2
HP:0001627	HP:0001651	Dextrocardia	2	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0001627	HP:0001696	Situs inversus totalis	2	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		1
HP:0001627	HP:0001719	Double outlet right ventricle	2	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		1
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		1
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0001627	HP:0001651	Dextrocardia	2	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0001627	HP:0001696	Situs inversus totalis	2	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		9
HP:0001627	HP:0001719	Double outlet right ventricle	2	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		9
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		9
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0001627	HP:0001631	Atrial septal defect	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		29
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia			29
HP:0001627	HP:0001631	Atrial septal defect	2	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001627	HP:0001719	Double outlet right ventricle	2	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001627	HP:0006695	Atrioventricular canal defect	2	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001627	HP:0001638	Cardiomyopathy	2	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0001627	HP:0004383	Hypoplastic left heart	2	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040283 - Occasional		87
HP:0001627	HP:0006695	Atrioventricular canal defect	2	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040282 - Frequent		87
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0001627	HP:0001631	Atrial septal defect	2	GATA4 CL E G H	2626	4173	OMIM:607941	Atrial septal defect 2	.		87
HP:0001627	HP:0001651	Dextrocardia	2	GATA4 CL E G H	2626	4173	OMIM:607941	Atrial septal defect 2			87
HP:0001627	HP:0006695	Atrioventricular canal defect	2	GATA4 CL E G H	2626	4173	OMIM:607941	Atrial septal defect 2	HP:0040283 - Occasional		87
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GATA4 CL E G H	2626	4173	OMIM:607941	Atrial septal defect 2			87
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	GATA4 CL E G H	2626	4173	OMIM:607941	Atrial septal defect 2			87
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type			87
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type			87
HP:0001627	HP:0025580	Abnormal right atrium morphology	2	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type			87
HP:0001627	HP:0001631	Atrial septal defect	2	GATA4 CL E G H	2626	4173	OMIM:614430	Atrioventricular septal defect 4			87
HP:0001627	HP:0006695	Atrioventricular canal defect	2	GATA4 CL E G H	2626	4173	OMIM:614430	Atrioventricular septal defect 4			87
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	GATA4 CL E G H	2626	4173	OMIM:614430	Atrioventricular septal defect 4			87
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease			87
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	GATA4 CL E G H	2626	4173	OMIM:187500	Tetralogy of Fallot			87
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot			87
HP:0001627	HP:0001631	Atrial septal defect	2	GATA4 CL E G H	2626	4173	OMIM:614429	Ventricular septal defect 1	HP:0040283 - Occasional		87
HP:0001627	HP:0006695	Atrioventricular canal defect	2	GATA4 CL E G H	2626	4173	OMIM:614429	Ventricular septal defect 1			87
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GATA4 CL E G H	2626	4173	OMIM:614429	Ventricular septal defect 1			87
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	GATA4 CL E G H	2626	4173	OMIM:614429	Ventricular septal defect 1			87
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	GATA4 CL E G H	2626	4173	OMIM:614429	Ventricular septal defect 1			87
HP:0001627	HP:0001631	Atrial septal defect	2	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5	.		10
HP:0001627	HP:0001638	Cardiomyopathy	2	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5			10
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5			10
HP:0001627	HP:0001719	Double outlet right ventricle	2	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5	.		10
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5			10
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5			10
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5			10
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	GATA5 CL E G H	140628	15802	ORPHA:402075	Familial bicuspid aortic valve			10
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	GATA5 CL E G H	140628	15802	ORPHA:402075	Familial bicuspid aortic valve			10
HP:0001627	HP:0004383	Hypoplastic left heart	2	GATA5 CL E G H	140628	15802	ORPHA:402075	Familial bicuspid aortic valve	HP:0040284 - Very rare		10
HP:0001627	HP:0005146	Cardiac valve calcification	2	GATA5 CL E G H	140628	15802	ORPHA:402075	Familial bicuspid aortic valve			10
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot			10
HP:0001627	HP:0001631	Atrial septal defect	2	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9			37
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9			37
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9			37
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type			37
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type			37
HP:0001627	HP:0025580	Abnormal right atrium morphology	2	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type			37
HP:0001627	HP:0004383	Hypoplastic left heart	2	GATA6 CL E G H	2627	4174	OMIM:614474	Atrioventricular septal defect 5			37
HP:0001627	HP:0006695	Atrioventricular canal defect	2	GATA6 CL E G H	2627	4174	OMIM:614474	Atrioventricular septal defect 5	.		37
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GATA6 CL E G H	2627	4174	OMIM:614474	Atrioventricular septal defect 5			37
HP:0001627	HP:0001719	Double outlet right ventricle	2	GATA6 CL E G H	2627	4174	OMIM:217095	Conotruncal heart malformations	.		37
HP:0001627	HP:0006695	Atrioventricular canal defect	2	GATA6 CL E G H	2627	4174	OMIM:217095	Conotruncal heart malformations			37
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	GATA6 CL E G H	2627	4174	OMIM:217095	Conotruncal heart malformations			37
HP:0001627	HP:0001631	Atrial septal defect	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001627	HP:0011628	Congenital defect of the pericardium	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001627	HP:0001631	Atrial septal defect	2	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040281 - Very frequent		37
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0001627	HP:0011628	Congenital defect of the pericardium	2	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040284 - Very rare		37
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	GATA6 CL E G H	2627	4174	OMIM:187500	Tetralogy of Fallot			37
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot			37
HP:0001627	HP:0001638	Cardiomyopathy	2	GATAD1 CL E G H	57798	29941	OMIM:614672	Cardiomyopathy, dilated, 2B			35
HP:0001627	HP:0001638	Cardiomyopathy	2	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy			35
HP:0001627	HP:0001638	Cardiomyopathy	2	GATC CL E G H	283459	25068	OMIM:618839	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 42; COXPD42			1
HP:0001627	HP:0001698	Pericardial effusion	2	GBA1 CL E G H	2629	4177	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0001627	HP:0001698	Pericardial effusion	2	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040283 - Occasional
HP:0001627	HP:0005146	Cardiac valve calcification	2	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC
HP:0001627	HP:0005146	Cardiac valve calcification	2	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0001627	HP:0100584	Endocarditis	2	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0001627	HP:0005146	Cardiac valve calcification	2	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0001627	HP:0001638	Cardiomyopathy	2	GBE1 CL E G H	2632	4180	OMIM:232500	Glycogen storage disease IV	.		86
HP:0001627	HP:0001631	Atrial septal defect	2	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6			28
HP:0001627	HP:0001719	Double outlet right ventricle	2	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6	.		28
HP:0001627	HP:0001750	Single ventricle	2	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6	.		28
HP:0001627	HP:0006695	Atrioventricular canal defect	2	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6			28
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6			28
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6			28
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6			28
HP:0001627	HP:0001631	Atrial septal defect	2	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)	.		28
HP:0001627	HP:0001651	Dextrocardia	2	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0001627	HP:0001696	Situs inversus totalis	2	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0001627	HP:0001750	Single ventricle	2	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0001627	HP:0006695	Atrioventricular canal defect	2	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0001627	HP:0011565	Common atrium	2	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot			28
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome			7
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome			64
HP:0001627	HP:0001631	Atrial septal defect	2	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3			68
HP:0001627	HP:0006695	Atrioventricular canal defect	2	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3	.		68
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3			68
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3			68
HP:0001627	HP:0001631	Atrial septal defect	2	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional		68
HP:0001627	HP:0004383	Hypoplastic left heart	2	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040281 - Very frequent		68
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome			68
HP:0001627	HP:0011546	Abnormal atrioventricular connection	2	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome			68
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome			68
HP:0001627	HP:0004383	Hypoplastic left heart	2	GJA1 CL E G H	2697	4274	OMIM:241550	HYPOPLASTIC LEFT HEART SYNDROME 1; HLHS1			68
HP:0001627	HP:0001631	Atrial septal defect	2	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	HP:0040283 - Occasional		68
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia			68
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia			68
HP:0001627	HP:0001638	Cardiomyopathy	2	GJA5 CL E G H	2702	4279	OMIM:108770	Atrial standstill 1			39
HP:0001627	HP:0001706	Endocardial fibroelastosis	2	GJA5 CL E G H	2702	4279	OMIM:108770	Atrial standstill 1	.		39
HP:0001627	HP:0001631	Atrial septal defect	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot			39
HP:0001627	HP:0001631	Atrial septal defect	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0001627	HP:0001638	Cardiomyopathy	2	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040282 - Frequent		291
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease			291
HP:0001627	HP:0001714	Ventricular hypertrophy	2	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease			291
HP:0001627	HP:0001714	Ventricular hypertrophy	2	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease			291
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease			291
HP:0001627	HP:0001638	Cardiomyopathy	2	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040282 - Frequent		120
HP:0001627	HP:0001638	Cardiomyopathy	2	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I			120
HP:0001627	HP:0001631	Atrial septal defect	2	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		1
HP:0001627	HP:0001651	Dextrocardia	2	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		1
HP:0001627	HP:0001696	Situs inversus totalis	2	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		1
HP:0001627	HP:0006695	Atrioventricular canal defect	2	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome			1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome			1
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly			173
HP:0001627	HP:0001631	Atrial septal defect	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional		270
HP:0001627	HP:0006695	Atrioventricular canal defect	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional		270
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome			270
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome			270
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia			17
HP:0001627	HP:0001714	Ventricular hypertrophy	2	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia			17
HP:0001627	HP:0001638	Cardiomyopathy	2	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040284 - Very rare		34
HP:0001627	HP:0001638	Cardiomyopathy	2	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19	HP:0040283 - Occasional		34
HP:0001627	HP:0006698	Dilatation of the ventricular cavity	2	GMPPB CL E G H	29925	22932	ORPHA:363623	GMPPB-related limb-girdle muscular dystrophy R19	HP:0040283 - Occasional		34
HP:0001627	HP:0001638	Cardiomyopathy	2	GMPPB CL E G H	29925	22932	OMIM:615352	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14	HP:0040283 - Occasional		34
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy			36
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001627	HP:0001719	Double outlet right ventricle	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001627	HP:0004383	Hypoplastic left heart	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001627	HP:0011546	Abnormal atrioventricular connection	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001627	HP:0001631	Atrial septal defect	2	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome			7
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome			7
HP:0001627	HP:0001631	Atrial septal defect	2	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:0001627	HP:0011994	Abnormal atrial septum morphology	2	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:0001627	HP:0001638	Cardiomyopathy	2	GNE CL E G H	10020	23657	ORPHA:602	GNE myopathy	HP:0040284 - Very rare		173
HP:0001627	HP:0001638	Cardiomyopathy	2	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta			240
HP:0001627	HP:0001631	Atrial septal defect	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0001627	HP:0001638	Cardiomyopathy	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional		240
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional		240
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0001627	HP:0001714	Ventricular hypertrophy	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0001627	HP:0001638	Cardiomyopathy	2	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0001627	HP:0001631	Atrial septal defect	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		8
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		8
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0001627	HP:0001631	Atrial septal defect	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent		73
HP:0001627	HP:0001638	Cardiomyopathy	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional		73
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome			73
HP:0001627	HP:0001631	Atrial septal defect	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0001627	HP:0001638	Cardiomyopathy	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0001627	HP:0001714	Ventricular hypertrophy	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0001627	HP:0001631	Atrial septal defect	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0001627	HP:0001638	Cardiomyopathy	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0001627	HP:0001631	Atrial septal defect	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001627	HP:0001638	Cardiomyopathy	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001627	HP:0001714	Ventricular hypertrophy	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001627	HP:0001631	Atrial septal defect	2	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.		99
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1			99
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1			99
HP:0001627	HP:0001638	Cardiomyopathy	2	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly			5
HP:0001627	HP:0001714	Ventricular hypertrophy	2	GPR101 CL E G H	83550	14963	OMIM:300942	Chromosome Xq26.3 duplication syndrome	.		5
HP:0001627	HP:0001631	Atrial septal defect	2	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.		3
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type			3
HP:0001627	HP:0012819	Myocarditis	2	GPX4 CL E G H	2879	4556	ORPHA:93317	Spondylometaphyseal dysplasia, Sedaghatian type	HP:0040283 - Occasional		3
HP:0001627	HP:0012819	Myocarditis	2	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.		3
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy			108
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy			5
HP:0001627	HP:0001638	Cardiomyopathy	2	GSN CL E G H	2934	4620	ORPHA:85448	AGel amyloidosis	HP:0040283 - Occasional		53
HP:0001627	HP:0001638	Cardiomyopathy	2	GSN CL E G H	2934	4620	OMIM:105120	Amyloidosis, Finnish type	.		53
HP:0001627	HP:0030843	Cardiac amyloidosis	2	GSN CL E G H	2934	4620	OMIM:105120	Amyloidosis, Finnish type	.		53
HP:0001627	HP:0001638	Cardiomyopathy	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy			2
HP:0001627	HP:0001638	Cardiomyopathy	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy			3
HP:0001627	HP:0001631	Atrial septal defect	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001638	Cardiomyopathy	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001631	Atrial septal defect	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001638	Cardiomyopathy	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001631	Atrial septal defect	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001638	Cardiomyopathy	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001638	Cardiomyopathy	2	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23			30
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23			30
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23			30
HP:0001627	HP:0001714	Ventricular hypertrophy	2	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23			30
HP:0001627	HP:0001638	Cardiomyopathy	2	GTPBP3 CL E G H	84705	14880	OMIM:616198	Combined oxidative phosphorylation deficiency 23	.		30
HP:0001627	HP:0001638	Cardiomyopathy	2	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.		54
HP:0001627	HP:0001638	Cardiomyopathy	2	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	HP:0040282 - Frequent		18
HP:0001627	HP:0001714	Ventricular hypertrophy	2	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	HP:0040282 - Frequent		18
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency			18
HP:0001627	HP:0031319	Cardiomyocyte hypertrophy	2	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	HP:0040282 - Frequent		18
HP:0001627	HP:0031319	Cardiomyocyte hypertrophy	2	GYG1 CL E G H	2992	4699	OMIM:613507	Glycogen storage disease XV			18
HP:0001627	HP:0001638	Cardiomyopathy	2	GYS1 CL E G H	2997	4706	OMIM:611556	Glycogen storage disease 0, muscle			52
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	GYS1 CL E G H	2997	4706	OMIM:611556	Glycogen storage disease 0, muscle			52
HP:0001627	HP:0001714	Ventricular hypertrophy	2	GYS1 CL E G H	2997	4706	OMIM:611556	Glycogen storage disease 0, muscle			52
HP:0001627	HP:0025579	Abnormal left atrium morphology	2	GYS1 CL E G H	2997	4706	OMIM:611556	Glycogen storage disease 0, muscle			52
HP:0001627	HP:0001638	Cardiomyopathy	2	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	.
HP:0001627	HP:0001631	Atrial septal defect	2	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0001627	HP:0001631	Atrial septal defect	2	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0001627	HP:0004383	Hypoplastic left heart	2	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0001627	HP:0001631	Atrial septal defect	2	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0001627	HP:0001631	Atrial septal defect	2	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0001627	HP:0001631	Atrial septal defect	2	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1	.		2
HP:0001627	HP:0004383	Hypoplastic left heart	2	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1	.		2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1			2
HP:0001627	HP:0001631	Atrial septal defect	2	HACD1 CL E G H	9200	9639	OMIM:619967				2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	HACD1 CL E G H	9200	9639	OMIM:619967				2
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0001627	HP:0001638	Cardiomyopathy	2	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency			41
HP:0001627	HP:0001638	Cardiomyopathy	2	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency			41
HP:0001627	HP:0001638	Cardiomyopathy	2	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency			99
HP:0001627	HP:0001638	Cardiomyopathy	2	HADHA CL E G H	3030	4801	OMIM:609016	Long-Chain 3-hydroxyacyl-coa dehydrogenase deficiency	.	HP:0003593 - Infantile onset	99
HP:0001627	HP:0001638	Cardiomyopathy	2	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent		99
HP:0001627	HP:0001638	Cardiomyopathy	2	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0001627	HP:0001714	Ventricular hypertrophy	2	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency			99
HP:0001627	HP:0001638	Cardiomyopathy	2	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent		60
HP:0001627	HP:0001638	Cardiomyopathy	2	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0001627	HP:0001714	Ventricular hypertrophy	2	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency			60
HP:0001627	HP:0001638	Cardiomyopathy	2	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2			15
HP:0001627	HP:0001638	Cardiomyopathy	2	HAMP CL E G H	57817	15598	OMIM:613313	Hemochromatosis, type 2B	.		15
HP:0001627	HP:0001638	Cardiomyopathy	2	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy			2
HP:0001627	HP:0001701	Pericarditis	2	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040283 - Occasional		200
HP:0001627	HP:0001701	Pericarditis	2	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040283 - Occasional		88
HP:0001627	HP:0001638	Cardiomyopathy	2	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major			580
HP:0001627	HP:0001638	Cardiomyopathy	2	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia			580
HP:0001627	HP:0001638	Cardiomyopathy	2	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0001627	HP:0001631	Atrial septal defect	2	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.		11
HP:0001627	HP:0001638	Cardiomyopathy	2	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7			11
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7			11
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7			11
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2			185
HP:0001627	HP:0001714	Ventricular hypertrophy	2	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2			185
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2			185
HP:0001627	HP:0030681	Abnormal morphology of myocardial trabeculae	2	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2			185
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome			33
HP:0001627	HP:0001631	Atrial septal defect	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		37
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome			37
HP:0001627	HP:0001631	Atrial septal defect	2	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0001627	HP:0001651	Dextrocardia	2	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive	.		10
HP:0001627	HP:0001696	Situs inversus totalis	2	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive	.		10
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0001627	HP:0001638	Cardiomyopathy	2	HFE CL E G H	3077	4886	OMIM:235200	Hemochromatosis, type 1	.		38
HP:0001627	HP:0001638	Cardiomyopathy	2	HFE CL E G H	3077	4886	ORPHA:465508	Symptomatic form of hemochromatosis type 1	HP:0040283 - Occasional		38
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria			77
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria			77
HP:0001627	HP:0005146	Cardiac valve calcification	2	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria			77
HP:0001627	HP:0005146	Cardiac valve calcification	2	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria			77
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria			77
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria			77
HP:0001627	HP:0001638	Cardiomyopathy	2	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	HIBCH CL E G H	26275	4908	OMIM:250620	3-Hydroxyisobutyryl-Coa hydrolase deficiency			32
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency			32
HP:0001627	HP:0001631	Atrial septal defect	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		3
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		3
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0001627	HP:0001638	Cardiomyopathy	2	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2
HP:0001627	HP:0001638	Cardiomyopathy	2	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A
HP:0001627	HP:0001701	Pericarditis	2	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional		4
HP:0001627	HP:0100584	Endocarditis	2	HLA-B CL E G H	3106	4932	ORPHA:117	Behçet disease	HP:0040283 - Occasional		4
HP:0001627	HP:0001701	Pericarditis	2	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		4
HP:0001627	HP:0001719	Double outlet right ventricle	2	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0001627	HP:0001701	Pericarditis	2	HLA-B CL E G H	3106	4932	ORPHA:29207	Reactive arthritis	HP:0040283 - Occasional		4
HP:0001627	HP:0001638	Cardiomyopathy	2	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis			4
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent		4
HP:0001627	HP:0001701	Pericarditis	2	HLA-DPA1 CL E G H	3113	4938	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0001627	HP:0001701	Pericarditis	2	HLA-DPB1 CL E G H	3115	4940	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		1
HP:0001627	HP:0001701	Pericarditis	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		2
HP:0001627	HP:0001719	Double outlet right ventricle	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0001627	HP:0001698	Pericardial effusion	2	HLA-DRB1 CL E G H	3123	4948	OMIM:181000	Sarcoidosis, susceptibility to, 1			2
HP:0001627	HP:0001701	Pericarditis	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0001627	HP:0001638	Cardiomyopathy	2	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria			35
HP:0001627	HP:0001638	Cardiomyopathy	2	HNRNPA1 CL E G H	3178	5031	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional		31
HP:0001627	HP:0001638	Cardiomyopathy	2	HNRNPA2B1 CL E G H	3181	5033	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional		5
HP:0001627	HP:0001631	Atrial septal defect	2	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0001627	HP:0001631	Atrial septal defect	2	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional		8
HP:0001627	HP:0001646	Abnormal aortic valve 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:0001627	HP:0010438	Abnormal ventricular septum 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:0001627	HP:0011994	Abnormal atrial septum 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:0001627	HP:0001631	Atrial septal defect	2	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional		8
HP:0001627	HP:0001646	Abnormal aortic valve 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:0001627	HP:0010438	Abnormal ventricular septum 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:0001627	HP:0011994	Abnormal atrial septum 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:0001627	HP:0010438	Abnormal ventricular septum morphology	2	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome			11
HP:0001627	HP:0001638	Cardiomyopathy	2	HPS1 CL E G H	3257	5163	OMIM:203300	Hermansky-Pudlak syndrome 1	.		121
HP:0001627	HP:0001631	Atrial septal defect	2	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0001627	HP:0001638	Cardiomyopathy	2	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0001627	HP:0001638	Cardiomyopathy	2	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess			14
HP:0001627	HP:0001714	Ventricular hypertrophy	2	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess			14
HP:0001627	HP:0001638	Cardiomyopathy	2	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0001627	HP:0001638	Cardiomyopathy	2	HSD17B10 CL E G H	3028	4800	ORPHA:391457	HSD10 disease, neonatal type			19
HP:0001627	HP:0001638	Cardiomyopathy	2	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease			19
HP:0001627	HP:0001631	Atrial septal defect	2	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0001627	HP:0001638	Cardiomyopathy	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0001627	HP:0001651	Dextrocardia	2	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0001627	HP:0001696	Situs inversus totalis	2	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		21
HP:0001627	HP:0001719	Double outlet right ventricle	2	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		21
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		21
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0001627	HP:0006695	Atrioventricular canal defect	2	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0001627	HP:0001651	Dextrocardia	2	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome			31
HP:0001627	HP:0001696	Situs inversus totalis	2	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		31
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0001627	HP:0001631	Atrial septal defect	2	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0001627	HP:0001638	Cardiomyopathy	2	IDH2 CL E G H	3418	5383	OMIM:613657	D-2-hydroxyglutaric aciduria 2	.		29
HP:0001627	HP:0001638	Cardiomyopathy	2	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional		86
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional		86
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form			86
HP:0001627	HP:0001638	Cardiomyopathy	2	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional		86
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional		86
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form			86
HP:0001627	HP:0001638	Cardiomyopathy	2	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.		115
HP:0001627	HP:0001638	Cardiomyopathy	2	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040281 - Very frequent		115
HP:0001627	HP:0001706	Endocardial fibroelastosis	2	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040283 - Occasional		115
HP:0001627	HP:0001706	Endocardial fibroelastosis	2	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0001627	HP:0001638	Cardiomyopathy	2	IDUA CL E G H	3425	5391	ORPHA:93476	Hurler-Scheie syndrome	HP:0040283 - Occasional		115
HP:0001627	HP:0001638	Cardiomyopathy	2	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0001627	HP:0001638	Cardiomyopathy	2	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0001627	HP:0001698	Pericardial effusion	2	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0001627	HP:0005146	Cardiac valve calcification	2	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0001627	HP:0009729	Cardiac rhabdomyoma	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		23
HP:0001627	HP:0009729	Cardiac rhabdomyoma	2	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2			23
HP:0001627	HP:0001701	Pericarditis	2	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional		60
HP:0001627	HP:0100584	Endocarditis	2	IFNGR1 CL E G H	3459	5439	ORPHA:117	Behçet disease	HP:0040283 - Occasional		60
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease			148
HP:0001627	HP:0001631	Atrial septal defect	2	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly			48
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly			2
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome			5
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0001627	HP:0001631	Atrial septal defect	2	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to			268
HP:0001627	HP:0001638	Cardiomyopathy	2	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	.		9
HP:0001627	HP:0001701	Pericarditis	2	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0001627	HP:0100584	Endocarditis	2	IL10 CL E G H	3586	5962	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0001627	HP:0001701	Pericarditis	2	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001627	HP:0100584	Endocarditis	2	IL12A CL E G H	3592	5969	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001627	HP:0001701	Pericarditis	2	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001627	HP:0100584	Endocarditis	2	IL12A-AS1 CL E G H	101928376	49094	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001627	HP:0001638	Cardiomyopathy	2	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis			31
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent		31
HP:0001627	HP:0001701	Pericarditis	2	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0001627	HP:0100584	Endocarditis	2	IL23R CL E G H	149233	19100	ORPHA:117	Behçet disease	HP:0040283 - Occasional		1
HP:0001627	HP:0001701	Pericarditis	2	IL6 CL E G H	3569	6018	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		2
HP:0001627	HP:0001651	Dextrocardia	2	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome			111
HP:0001627	HP:0001696	Situs inversus totalis	2	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		111
HP:0001627	HP:0001651	Dextrocardia	2	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		111
HP:0001627	HP:0001638	Cardiomyopathy	2	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism			229
HP:0001627	HP:0001631	Atrial septal defect	2	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional		229
HP:0001627	HP:0001638	Cardiomyopathy	2	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional		229
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome			229
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0001627	HP:0006695	Atrioventricular canal defect	2	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0001627	HP:0001651	Dextrocardia	2	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2			106
HP:0001627	HP:0001696	Situs inversus totalis	2	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	HP:0040283 - Occasional		106
HP:0001627	HP:0001631	Atrial septal defect	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001627	HP:0001714	Ventricular hypertrophy	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001627	HP:0001719	Double outlet right ventricle	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001627	HP:0011642	Abnormal coronary sinus morphology	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001627	HP:0001698	Pericardial effusion	2	IRAK1 CL E G H	3654	6112	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0001627	HP:0001701	Pericarditis	2	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040283 - Occasional		1
HP:0001627	HP:0012819	Myocarditis	2	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040283 - Occasional		1
HP:0001627	HP:0001651	Dextrocardia	2	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip			99
HP:0001627	HP:0001696	Situs inversus totalis	2	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		99
HP:0001627	HP:0001631	Atrial septal defect	2	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	HP:0040283 - Occasional		4
HP:0001627	HP:0006695	Atrioventricular canal defect	2	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy			127
HP:0001627	HP:0001698	Pericardial effusion	2	ITK CL E G H	3702	6171	OMIM:613011	LYMPHOPROLIFERATIVE SYNDROME 1; LPFS1			51
HP:0001627	HP:0001638	Cardiomyopathy	2	ITPA CL E G H	3704	6176	OMIM:616647	Epileptic encephalopathy, early infantile, 35	HP:0040283 - Occasional		8
HP:0001627	HP:0001631	Atrial septal defect	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.		257
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE			257
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE			257
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot			257
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	JAG1 CL E G H	182	6188	OMIM:187500	Tetralogy of Fallot			257
HP:0001627	HP:0001638	Cardiomyopathy	2	JAG2 CL E G H	3714	6189	OMIM:619566	MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27; LGMDR27			1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts			4
HP:0001627	HP:0001631	Atrial septal defect	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		2
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		2
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0001627	HP:0001638	Cardiomyopathy	2	JPH2 CL E G H	57158	14202	OMIM:619492	CARDIOMYOPATHY, DILATED, 2E; CMD2E			111
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	JPH2 CL E G H	57158	14202	OMIM:619492	CARDIOMYOPATHY, DILATED, 2E; CMD2E			111
HP:0001627	HP:0001638	Cardiomyopathy	2	JPH2 CL E G H	57158	14202	OMIM:613873	Cardiomyopathy, familial hypertrophic, 17	.		111
HP:0001627	HP:0001685	Myocardial fibrosis	2	JPH2 CL E G H	57158	14202	OMIM:613873	Cardiomyopathy, familial hypertrophic, 17	.		111
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	JPH2 CL E G H	57158	14202	OMIM:613873	Cardiomyopathy, familial hypertrophic, 17			111
HP:0001627	HP:0001714	Ventricular hypertrophy	2	JPH2 CL E G H	57158	14202	OMIM:613873	Cardiomyopathy, familial hypertrophic, 17			111
HP:0001627	HP:0001638	Cardiomyopathy	2	JUP CL E G H	3728	6207	OMIM:611528	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12			222
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	JUP CL E G H	3728	6207	OMIM:611528	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12			222
HP:0001627	HP:0001638	Cardiomyopathy	2	JUP CL E G H	3728	6207	ORPHA:158687	Lethal acantholytic erosive disorder	HP:0040283 - Occasional		222
HP:0001627	HP:0001638	Cardiomyopathy	2	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease			222
HP:0001627	HP:0001638	Cardiomyopathy	2	JUP CL E G H	3728	6207	ORPHA:34217	Naxos disease	HP:0040281 - Very frequent		222
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease			222
HP:0001627	HP:0030681	Abnormal morphology of myocardial trabeculae	2	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease			222
HP:0001627	HP:0001631	Atrial septal defect	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional		283
HP:0001627	HP:0001638	Cardiomyopathy	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional		283
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0001627	HP:0001631	Atrial septal defect	2	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0001627	HP:0001631	Atrial septal defect	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional		283
HP:0001627	HP:0001638	Cardiomyopathy	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional		283
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0001627	HP:0001631	Atrial septal defect	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0001627	HP:0001631	Atrial septal defect	2	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040282 - Frequent		34
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome			34
HP:0001627	HP:0001631	Atrial septal defect	2	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent		141
HP:0001627	HP:0006695	Atrioventricular canal defect	2	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent		141
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type			141
HP:0001627	HP:0001631	Atrial septal defect	2	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040283 - Occasional		141
HP:0001627	HP:0001631	Atrial septal defect	2	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.		141
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome			141
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome			141
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome			141
HP:0001627	HP:0001638	Cardiomyopathy	2	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant			141
HP:0001627	HP:0001631	Atrial septal defect	2	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0001627	HP:0001631	Atrial septal defect	2	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional		10
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			10
HP:0001627	HP:0001651	Dextrocardia	2	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0001627	HP:0001696	Situs inversus totalis	2	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001638	Cardiomyopathy	2	KBTBD13 CL E G H	390594	37227	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		80
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy			145
HP:0001627	HP:0001638	Cardiomyopathy	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	KCNE5 CL E G H	23630	6241	ORPHA:86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	HP:0040283 - Occasional		5
HP:0001627	HP:0001631	Atrial septal defect	2	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome			13
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome			13
HP:0001627	HP:0001638	Cardiomyopathy	2	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.		13
HP:0001627	HP:0001638	Cardiomyopathy	2	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency			127
HP:0001627	HP:0001638	Cardiomyopathy	2	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome			193
HP:0001627	HP:0001638	Cardiomyopathy	2	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome			128
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III			128
HP:0001627	HP:0001714	Ventricular hypertrophy	2	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III			128
HP:0001627	HP:0001638	Cardiomyopathy	2	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type			23
HP:0001627	HP:0001638	Cardiomyopathy	2	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	.		730
HP:0001627	HP:0001638	Cardiomyopathy	2	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	.		1
HP:0001627	HP:0001631	Atrial septal defect	2	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0001627	HP:0001631	Atrial septal defect	2	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.		2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0001627	HP:0001631	Atrial septal defect	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.		53
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0001627	HP:0001631	Atrial septal defect	2	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2	HP:0040283 - Occasional		53
HP:0001627	HP:0006695	Atrioventricular canal defect	2	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2	HP:0040283 - Occasional		53
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2			53
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot			40
HP:0001627	HP:0001651	Dextrocardia	2	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome			24
HP:0001627	HP:0001696	Situs inversus totalis	2	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		24
HP:0001627	HP:0001631	Atrial septal defect	2	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.		24
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly			24
HP:0001627	HP:0001631	Atrial septal defect	2	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional		46
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome			46
HP:0001627	HP:0001631	Atrial septal defect	2	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome
HP:0001627	HP:0001638	Cardiomyopathy	2	KIF20A CL E G H	10112	9787	OMIM:619433	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0001627	HP:0001638	Cardiomyopathy	2	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy
HP:0001627	HP:0001685	Myocardial fibrosis	2	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy
HP:0001627	HP:0025579	Abnormal left atrium morphology	2	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy
HP:0001627	HP:0025580	Abnormal right atrium morphology	2	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome	.		167
HP:0001627	HP:0001638	Cardiomyopathy	2	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV			42
HP:0001627	HP:0001638	Cardiomyopathy	2	KLHL41 CL E G H	10324	16905	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		13
HP:0001627	HP:0001701	Pericarditis	2	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001627	HP:0100584	Endocarditis	2	KLRC4 CL E G H	8302	6377	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001627	HP:0001631	Atrial septal defect	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.		660
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0001627	HP:0001631	Atrial septal defect	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		196
HP:0001627	HP:0001638	Cardiomyopathy	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2			196
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis			196
HP:0001627	HP:0100571	Cardiac diverticulum	2	KRAS CL E G H	3845	6407	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		196
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	KRAS CL E G H	3845	6407	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		196
HP:0001627	HP:0001631	Atrial septal defect	2	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0001627	HP:0001638	Cardiomyopathy	2	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0001627	HP:0001631	Atrial septal defect	2	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.		196
HP:0001627	HP:0001638	Cardiomyopathy	2	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome			196
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome			196
HP:0001627	HP:0004383	Hypoplastic left heart	2	KYNU CL E G H	8942	6469	OMIM:617661	Vertebral, cardiac, renal, and limb defects syndrome 2	.		5
HP:0001627	HP:0001701	Pericarditis	2	LACC1 CL E G H	144811	26789	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		1
HP:0001627	HP:0001638	Cardiomyopathy	2	LAMA2 CL E G H	3908	6482	ORPHA:258	Laminin subunit alpha 2-related congenital muscular dystrophy	HP:0040283 - Occasional		411
HP:0001627	HP:0001638	Cardiomyopathy	2	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			116
HP:0001627	HP:0001638	Cardiomyopathy	2	LAMA4 CL E G H	3910	6484	OMIM:615235	Cardiomyopathy, dilated, 1jj			279
HP:0001627	HP:0001638	Cardiomyopathy	2	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy			279
HP:0001627	HP:0001631	Atrial septal defect	2	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes			92
HP:0001627	HP:0001714	Ventricular hypertrophy	2	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes			92
HP:0001627	HP:0001638	Cardiomyopathy	2	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			167
HP:0001627	HP:0001638	Cardiomyopathy	2	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa			135
HP:0001627	HP:0001638	Cardiomyopathy	2	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease			211
HP:0001627	HP:0001685	Myocardial fibrosis	2	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease	.		211
HP:0001627	HP:0001700	Myocardial necrosis	2	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease	.		211
HP:0001627	HP:0001638	Cardiomyopathy	2	LAMP2 CL E G H	3920	6501	ORPHA:34587	Glycogen storage disease due to LAMP-2 deficiency			211
HP:0001627	HP:0001631	Atrial septal defect	2	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040283 - Occasional		16
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome			16
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia			54
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0001627	HP:0001638	Cardiomyopathy	2	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction			286
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction			286
HP:0001627	HP:0001714	Ventricular hypertrophy	2	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction			286
HP:0001627	HP:0006685	Endocardial fibrosis	2	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction	.		286
HP:0001627	HP:0030681	Abnormal morphology of myocardial trabeculae	2	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction			286
HP:0001627	HP:0001638	Cardiomyopathy	2	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy			286
HP:0001627	HP:0001638	Cardiomyopathy	2	LDB3 CL E G H	11155	15710	ORPHA:98912	Late-onset distal myopathy, Markesbery-Griggs type	HP:0040284 - Very rare		286
HP:0001627	HP:0001638	Cardiomyopathy	2	LDB3 CL E G H	11155	15710	OMIM:609452	Myopathy, myofibrillar, 4	.		286
HP:0001627	HP:0006693	Myocardial steatosis	2	LDLR CL E G H	3949	6547	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent		2157
HP:0001627	HP:0006693	Myocardial steatosis	2	LDLRAP1 CL E G H	26119	18640	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent		73
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0001627	HP:0001638	Cardiomyopathy	2	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0001627	HP:0001698	Pericardial effusion	2	LETM1 CL E G H	3954	6556	OMIM:620089				2
HP:0001627	HP:0001631	Atrial septal defect	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001627	HP:0001631	Atrial septal defect	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		2
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome			2
HP:0001627	HP:0001638	Cardiomyopathy	2	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures			31
HP:0001627	HP:0001631	Atrial septal defect	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001638	Cardiomyopathy	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0001627	HP:0001638	Cardiomyopathy	2	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W			10
HP:0001627	HP:0001638	Cardiomyopathy	2	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0001627	HP:0001631	Atrial septal defect	2	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0001627	HP:0001651	Dextrocardia	2	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0001627	HP:0005146	Cardiac valve calcification	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0001627	HP:0001638	Cardiomyopathy	2	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			645
HP:0001627	HP:0001638	Cardiomyopathy	2	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy			645
HP:0001627	HP:0001638	Cardiomyopathy	2	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy			645
HP:0001627	HP:0001638	Cardiomyopathy	2	LMNA CL E G H	4000	6636	OMIM:115200	Cardiomyopathy, dilated, 1A			645
HP:0001627	HP:0001698	Pericardial effusion	2	LMNA CL E G H	4000	6636	OMIM:115200	Cardiomyopathy, dilated, 1A	.		645
HP:0001627	HP:0001638	Cardiomyopathy	2	LMNA CL E G H	4000	6636	ORPHA:2229	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome			645
HP:0001627	HP:0001638	Cardiomyopathy	2	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant			645
HP:0001627	HP:0001685	Myocardial fibrosis	2	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant			645
HP:0001627	HP:0001638	Cardiomyopathy	2	LMNA CL E G H	4000	6636	ORPHA:300751	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation			645
HP:0001627	HP:0001698	Pericardial effusion	2	LMNA CL E G H	4000	6636	ORPHA:300751	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	HP:0040283 - Occasional		645
HP:0001627	HP:0001638	Cardiomyopathy	2	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy			645
HP:0001627	HP:0001638	Cardiomyopathy	2	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type			645
HP:0001627	HP:0001638	Cardiomyopathy	2	LMNA CL E G H	4000	6636	ORPHA:168796	Heart-hand syndrome, Slovenian type			645
HP:0001627	HP:0001638	Cardiomyopathy	2	LMNA CL E G H	4000	6636	OMIM:610140	Heart-hand syndrome, Slovenian type			645
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent		645
HP:0001627	HP:0001714	Ventricular hypertrophy	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		645
HP:0001627	HP:0005146	Cardiac valve calcification	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome			645
HP:0001627	HP:0001714	Ventricular hypertrophy	2	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent		645
HP:0001627	HP:0005146	Cardiac valve calcification	2	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome			645
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome			645
HP:0001627	HP:0001638	Cardiomyopathy	2	LMNA CL E G H	4000	6636	OMIM:212112	Malouf syndrome			645
HP:0001627	HP:0001631	Atrial septal defect	2	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		645
HP:0001627	HP:0001651	Dextrocardia	2	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		645
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy			645
HP:0001627	HP:0001631	Atrial septal defect	2	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0001627	HP:0001638	Cardiomyopathy	2	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0001627	HP:0025579	Abnormal left atrium morphology	2	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0001627	HP:0031318	Myofiber disarray	2	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0001627	HP:0031333	Myocardial sarcomeric disarray	2	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0001627	HP:0001631	Atrial septal defect	2	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0001627	HP:0006695	Atrioventricular canal defect	2	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome	.		8
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome			8
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10			6
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			6
HP:0001627	HP:0001638	Cardiomyopathy	2	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome			289
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome			125
HP:0001627	HP:0001638	Cardiomyopathy	2	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0001627	HP:0001651	Dextrocardia	2	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0001627	HP:0001719	Double outlet right ventricle	2	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0001627	HP:0001651	Dextrocardia	2	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001696	Situs inversus totalis	2	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001719	Double outlet right ventricle	2	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001638	Cardiomyopathy	2	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0001627	HP:0006698	Dilatation of the ventricular cavity	2	LTBP1 CL E G H	4052	6714	ORPHA:90349	Autosomal recessive cutis laxa type 1	HP:0040283 - Occasional
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome			123
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature			12
HP:0001627	HP:0001631	Atrial septal defect	2	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC			92
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC			92
HP:0001627	HP:0001638	Cardiomyopathy	2	LTBP4 CL E G H	8425	6717	ORPHA:98896	Duchenne muscular dystrophy	HP:0040281 - Very frequent		92
HP:0001627	HP:0001638	Cardiomyopathy	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0001627	HP:0001698	Pericardial effusion	2	LYST CL E G H	1130	1968	ORPHA:167	Chédiak-Higashi syndrome	HP:0040283 - Occasional		239
HP:0001627	HP:0001651	Dextrocardia	2	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17			4
HP:0001627	HP:0001696	Situs inversus totalis	2	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17			4
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	LZTR1 CL E G H	8216	6742	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		43
HP:0001627	HP:0001631	Atrial septal defect	2	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0001627	HP:0001638	Cardiomyopathy	2	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0001627	HP:0001714	Ventricular hypertrophy	2	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0001627	HP:0001631	Atrial septal defect	2	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0001627	HP:0001638	Cardiomyopathy	2	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0001627	HP:0006695	Atrioventricular canal defect	2	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0001627	HP:0001631	Atrial septal defect	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1
HP:0001627	HP:0001638	Cardiomyopathy	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0001627	HP:0001698	Pericardial effusion	2	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040283 - Occasional		21
HP:0001627	HP:0001701	Pericarditis	2	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040283 - Occasional		21
HP:0001627	HP:0001701	Pericarditis	2	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome			21
HP:0001627	HP:0001631	Atrial septal defect	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional		63
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome			63
HP:0001627	HP:0001631	Atrial septal defect	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		134
HP:0001627	HP:0001638	Cardiomyopathy	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0001627	HP:0001631	Atrial septal defect	2	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0001627	HP:0001638	Cardiomyopathy	2	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0001627	HP:0001631	Atrial septal defect	2	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0001627	HP:0001638	Cardiomyopathy	2	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0001627	HP:0001631	Atrial septal defect	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		178
HP:0001627	HP:0001638	Cardiomyopathy	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4	.		178
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4	.		178
HP:0001627	HP:0001638	Cardiomyopathy	2	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome			178
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy			2
HP:0001627	HP:0001631	Atrial septal defect	2	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	MAP3K7 CL E G H	6885	6859	ORPHA:3238	Cardiospondylocarpofacial syndrome			11
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0001627	HP:0001631	Atrial septal defect	2	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0001627	HP:0001631	Atrial septal defect	2	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome			2
HP:0001627	HP:0001631	Atrial septal defect	2	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0001627	HP:0001631	Atrial septal defect	2	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0001627	HP:0001750	Single ventricle	2	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0001627	HP:0011546	Abnormal atrioventricular connection	2	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0001627	HP:0001631	Atrial septal defect	2	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.		21
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1			21
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1			21
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			13
HP:0001627	HP:0001638	Cardiomyopathy	2	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency			94
HP:0001627	HP:0001651	Dextrocardia	2	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0001627	HP:0001696	Situs inversus totalis	2	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		13
HP:0001627	HP:0001719	Double outlet right ventricle	2	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		13
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		13
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0001627	HP:0001638	Cardiomyopathy	2	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001627	HP:0001698	Pericardial effusion	2	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001627	HP:0001706	Endocardial fibroelastosis	2	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001627	HP:0025580	Abnormal right atrium morphology	2	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0001627	HP:0001719	Double outlet right ventricle	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0001627	HP:0004383	Hypoplastic left heart	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040283 - Occasional		3
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0001627	HP:0011546	Abnormal atrioventricular connection	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0001627	HP:0001631	Atrial septal defect	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent		228
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0001627	HP:0001631	Atrial septal defect	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0001627	HP:0001631	Atrial septal defect	2	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent		228
HP:0001627	HP:0001631	Atrial septal defect	2	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.		228
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome			228
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome			228
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome			228
HP:0001627	HP:0001631	Atrial septal defect	2	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0001627	HP:0001631	Atrial septal defect	2	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects			74
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects			74
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects			74
HP:0001627	HP:0001631	Atrial septal defect	2	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18			25
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18			25
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18			25
HP:0001627	HP:0001631	Atrial septal defect	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional		43
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome			43
HP:0001627	HP:0001701	Pericarditis	2	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional		281
HP:0001627	HP:0100584	Endocarditis	2	MEFV CL E G H	4210	6998	ORPHA:117	Behçet disease	HP:0040283 - Occasional		281
HP:0001627	HP:0001701	Pericarditis	2	MEFV CL E G H	4210	6998	ORPHA:342	Familial Mediterranean fever	HP:0040283 - Occasional		281
HP:0001627	HP:0001701	Pericarditis	2	MEFV CL E G H	4210	6998	OMIM:249100	Familial Mediterranean fever, AR			281
HP:0001627	HP:0001638	Cardiomyopathy	2	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE			281
HP:0001627	HP:0001638	Cardiomyopathy	2	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome			281
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation			1
HP:0001627	HP:0001631	Atrial septal defect	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0001627	HP:0001638	Cardiomyopathy	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14			1
HP:0001627	HP:0001631	Atrial septal defect	2	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	HP:0040283 - Occasional		13
HP:0001627	HP:0001651	Dextrocardia	2	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0001627	HP:0001696	Situs inversus totalis	2	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	HP:0040283 - Occasional		13
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0001627	HP:0001631	Atrial septal defect	2	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040283 - Occasional		7
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome			7
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome			7
HP:0001627	HP:0001631	Atrial septal defect	2	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.		7
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0001627	HP:0001638	Cardiomyopathy	2	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism			462
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism			462
HP:0001627	HP:0001714	Ventricular hypertrophy	2	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism			462
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome			5
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive			5
HP:0001627	HP:0001631	Atrial septal defect	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001638	Cardiomyopathy	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001631	Atrial septal defect	2	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	MFAP5 CL E G H	8076	29673	OMIM:616166	AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9			11
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			11
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa			39
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG			39
HP:0001627	HP:0001638	Cardiomyopathy	2	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11			11
HP:0001627	HP:0001638	Cardiomyopathy	2	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome			11
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome			33
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome			33
HP:0001627	HP:0001638	Cardiomyopathy	2	MIB1 CL E G H	57534	21086	OMIM:615092	Left ventricular noncompaction 7			28
HP:0001627	HP:0030681	Abnormal morphology of myocardial trabeculae	2	MIB1 CL E G H	57534	21086	OMIM:615092	Left ventricular noncompaction 7			28
HP:0001627	HP:0001638	Cardiomyopathy	2	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0001627	HP:0001631	Atrial septal defect	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional		57
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome			57
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0001627	HP:0001701	Pericarditis	2	MIF CL E G H	4282	7097	ORPHA:85414	Systemic-onset juvenile idiopathic arthritis	HP:0040283 - Occasional		1
HP:0001627	HP:0001638	Cardiomyopathy	2	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31			7
HP:0001627	HP:0030681	Abnormal morphology of myocardial trabeculae	2	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31			7
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MIR17HG CL E G H	407975	23564	ORPHA:391646	Feingold syndrome type 2			1
HP:0001627	HP:0001631	Atrial septal defect	2	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040283 - Occasional		69
HP:0001627	HP:0004383	Hypoplastic left heart	2	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040283 - Occasional		69
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome			69
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome			69
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome			69
HP:0001627	HP:0001651	Dextrocardia	2	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome			127
HP:0001627	HP:0001696	Situs inversus totalis	2	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		127
HP:0001627	HP:0001651	Dextrocardia	2	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		127
HP:0001627	HP:0001651	Dextrocardia	2	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome			127
HP:0001627	HP:0001696	Situs inversus totalis	2	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		127
HP:0001627	HP:0100571	Cardiac diverticulum	2	MLH1 CL E G H	4292	7127	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1819
HP:0001627	HP:0100571	Cardiac diverticulum	2	MLH3 CL E G H	27030	7128	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		131
HP:0001627	HP:0001638	Cardiomyopathy	2	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent
HP:0001627	HP:0001631	Atrial septal defect	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001638	Cardiomyopathy	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001631	Atrial septal defect	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0001627	HP:0001638	Cardiomyopathy	2	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0001627	HP:0001638	Cardiomyopathy	2	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0001627	HP:0001638	Cardiomyopathy	2	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form			6
HP:0001627	HP:0001631	Atrial septal defect	2	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional		2
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0001627	HP:0001719	Double outlet right ventricle	2	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional		2
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0001627	HP:0001631	Atrial septal defect	2	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional		64
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0001627	HP:0001719	Double outlet right ventricle	2	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional		64
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0001627	HP:0001631	Atrial septal defect	2	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0001627	HP:0001651	Dextrocardia	2	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0001627	HP:0001696	Situs inversus totalis	2	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0001627	HP:0006695	Atrioventricular canal defect	2	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal	.		3
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0001627	HP:0011546	Abnormal atrioventricular connection	2	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0001627	HP:0011565	Common atrium	2	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0001627	HP:0001638	Cardiomyopathy	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0001627	HP:0001638	Cardiomyopathy	2	MMUT CL E G H	4594	7526	OMIM:251000	Methylmalonic aciduria due to methylmalonyl-coa mutase deficiency	.
HP:0001627	HP:0001638	Cardiomyopathy	2	MMUT CL E G H	4594	7526	ORPHA:79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	HP:0040283 - Occasional
HP:0001627	HP:0001651	Dextrocardia	2	MNS1 CL E G H	55329	29636	OMIM:618948	HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0001627	HP:0001696	Situs inversus totalis	2	MNS1 CL E G H	55329	29636	OMIM:618948	HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0001627	HP:0001631	Atrial septal defect	2	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional		37
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0001627	HP:0001714	Ventricular hypertrophy	2	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG			37
HP:0001627	HP:0001638	Cardiomyopathy	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy			9
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive			9
HP:0001627	HP:0001638	Cardiomyopathy	2	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency			26
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	MRAS CL E G H	22808	7227	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0001627	HP:0001631	Atrial septal defect	2	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0001627	HP:0001638	Cardiomyopathy	2	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0001627	HP:0001631	Atrial septal defect	2	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0001627	HP:0001638	Cardiomyopathy	2	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0001627	HP:0001638	Cardiomyopathy	2	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16			13
HP:0001627	HP:0001638	Cardiomyopathy	2	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38
HP:0001627	HP:0001638	Cardiomyopathy	2	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5			25
HP:0001627	HP:0100571	Cardiac diverticulum	2	MSH2 CL E G H	4436	7325	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2162
HP:0001627	HP:0100571	Cardiac diverticulum	2	MSH6 CL E G H	2956	7329	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		2232
HP:0001627	HP:0001651	Dextrocardia	2	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip			12
HP:0001627	HP:0001696	Situs inversus totalis	2	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		12
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15			29
HP:0001627	HP:0001638	Cardiomyopathy	2	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0001627	HP:0001638	Cardiomyopathy	2	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10			39
HP:0001627	HP:0001631	Atrial septal defect	2	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001627	HP:0001714	Ventricular hypertrophy	2	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001627	HP:0005146	Cardiac valve calcification	2	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001627	HP:0001638	Cardiomyopathy	2	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4			1143
HP:0001627	HP:0001698	Pericardial effusion	2	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4	.		1143
HP:0001627	HP:0001714	Ventricular hypertrophy	2	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4	.		1143
HP:0001627	HP:0025580	Abnormal right atrium morphology	2	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4			1143
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4			1143
HP:0001627	HP:0031318	Myofiber disarray	2	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4			1143
HP:0001627	HP:0001638	Cardiomyopathy	2	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy			1143
HP:0001627	HP:0001638	Cardiomyopathy	2	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10			1143
HP:0001627	HP:0030681	Abnormal morphology of myocardial trabeculae	2	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10			1143
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1			35
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1			35
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4			418
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			418
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	MYH3 CL E G H	4621	7573	ORPHA:2990	Autosomal recessive multiple pterygium syndrome	HP:0040283 - Occasional		166
HP:0001627	HP:0001631	Atrial septal defect	2	MYH6 CL E G H	4624	7576	OMIM:614089	ATRIAL SEPTAL DEFECT 3; ASD3			452
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MYH6 CL E G H	4624	7576	OMIM:614089	ATRIAL SEPTAL DEFECT 3; ASD3			452
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type			452
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type			452
HP:0001627	HP:0025580	Abnormal right atrium morphology	2	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type			452
HP:0001627	HP:0001638	Cardiomyopathy	2	MYH6 CL E G H	4624	7576	OMIM:613252	Cardiomyopathy, dilated, 1ee			452
HP:0001627	HP:0001638	Cardiomyopathy	2	MYH6 CL E G H	4624	7576	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			452
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	MYH6 CL E G H	4624	7576	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			452
HP:0001627	HP:0001638	Cardiomyopathy	2	MYH6 CL E G H	4624	7576	OMIM:613251	Cardiomyopathy, familial hypertrophic, 14			452
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	MYH6 CL E G H	4624	7576	OMIM:613251	Cardiomyopathy, familial hypertrophic, 14			452
HP:0001627	HP:0001714	Ventricular hypertrophy	2	MYH6 CL E G H	4624	7576	OMIM:613251	Cardiomyopathy, familial hypertrophic, 14			452
HP:0001627	HP:0001638	Cardiomyopathy	2	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy			452
HP:0001627	HP:0001638	Cardiomyopathy	2	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0001627	HP:0001685	Myocardial fibrosis	2	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0001627	HP:0030681	Abnormal morphology of myocardial trabeculae	2	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0001627	HP:0001638	Cardiomyopathy	2	MYH7 CL E G H	4625	7577	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			1269
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	MYH7 CL E G H	4625	7577	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			1269
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0001627	HP:0001714	Ventricular hypertrophy	2	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0001627	HP:0001631	Atrial septal defect	2	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve	HP:0040281 - Very frequent		1269
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve			1269
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve			1269
HP:0001627	HP:0001638	Cardiomyopathy	2	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy			1269
HP:0001627	HP:0001638	Cardiomyopathy	2	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy			1269
HP:0001627	HP:0001638	Cardiomyopathy	2	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1269
HP:0001627	HP:0001638	Cardiomyopathy	2	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1			1269
HP:0001627	HP:0025579	Abnormal left atrium morphology	2	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1			1269
HP:0001627	HP:0001638	Cardiomyopathy	2	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive			1269
HP:0001627	HP:0001714	Ventricular hypertrophy	2	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive			1269
HP:0001627	HP:0011672	Cardiac myxoma	2	MYH8 CL E G H	4626	7578	OMIM:608837	CARNEY COMPLEX VARIANT			93
HP:0001627	HP:0001638	Cardiomyopathy	2	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10			131
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10			131
HP:0001627	HP:0001714	Ventricular hypertrophy	2	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10			131
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10			131
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy			131
HP:0001627	HP:0001638	Cardiomyopathy	2	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0001627	HP:0001685	Myocardial fibrosis	2	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0001627	HP:0001714	Ventricular hypertrophy	2	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0001627	HP:0025579	Abnormal left atrium morphology	2	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0001627	HP:0025580	Abnormal right atrium morphology	2	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0001627	HP:0031318	Myofiber disarray	2	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0001627	HP:0001638	Cardiomyopathy	2	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8			95
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8			95
HP:0001627	HP:0001714	Ventricular hypertrophy	2	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8			95
HP:0001627	HP:0006685	Endocardial fibrosis	2	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8			95
HP:0001627	HP:0025579	Abnormal left atrium morphology	2	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8			95
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			326
HP:0001627	HP:0001638	Cardiomyopathy	2	MYLK2 CL E G H	85366	16243	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			124
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	MYLK2 CL E G H	85366	16243	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			124
HP:0001627	HP:0001638	Cardiomyopathy	2	MYO18B CL E G H	84700	18150	OMIM:616549	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism	.		5
HP:0001627	HP:0001631	Atrial septal defect	2	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL			3
HP:0001627	HP:0001638	Cardiomyopathy	2	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL			3
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL			3
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL			3
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL			3
HP:0001627	HP:0001638	Cardiomyopathy	2	MYOT CL E G H	9499	12399	ORPHA:98911	Distal myotilinopathy	HP:0040283 - Occasional		75
HP:0001627	HP:0001638	Cardiomyopathy	2	MYOT CL E G H	9499	12399	OMIM:609200	MYOTILINOPATHY	.		75
HP:0001627	HP:0001638	Cardiomyopathy	2	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16			81
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16			81
HP:0001627	HP:0001714	Ventricular hypertrophy	2	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16			81
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy			217
HP:0001627	HP:0001638	Cardiomyopathy	2	MYPN CL E G H	84665	23246	OMIM:615248	Cardiomyopathy, dilated, 1kk			217
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	MYPN CL E G H	84665	23246	OMIM:615248	Cardiomyopathy, dilated, 1kk			217
HP:0001627	HP:0001714	Ventricular hypertrophy	2	MYPN CL E G H	84665	23246	OMIM:615248	Cardiomyopathy, dilated, 1kk			217
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MYPN CL E G H	84665	23246	OMIM:615248	Cardiomyopathy, dilated, 1kk			217
HP:0001627	HP:0001638	Cardiomyopathy	2	MYPN CL E G H	84665	23246	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		217
HP:0001627	HP:0001638	Cardiomyopathy	2	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy			217
HP:0001627	HP:0001638	Cardiomyopathy	2	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy			217
HP:0001627	HP:0001685	Myocardial fibrosis	2	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy			217
HP:0001627	HP:0025579	Abnormal left atrium morphology	2	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy			217
HP:0001627	HP:0025580	Abnormal right atrium morphology	2	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy			217
HP:0001627	HP:0001638	Cardiomyopathy	2	MYPN CL E G H	84665	23246	OMIM:617336	Nemaline myopathy 11, autosomal recessive	HP:0040283 - Occasional		217
HP:0001627	HP:0001631	Atrial septal defect	2	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	.		2
HP:0001627	HP:0001651	Dextrocardia	2	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	.		2
HP:0001627	HP:0001698	Pericardial effusion	2	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0001627	HP:0001714	Ventricular hypertrophy	2	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0001627	HP:0004383	Hypoplastic left heart	2	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	.		2
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0001627	HP:0010774	Cor triatriatum	2	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0001627	HP:0011599	Mesocardia	2	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0001627	HP:0011642	Abnormal coronary sinus morphology	2	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0001627	HP:0001638	Cardiomyopathy	2	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0001627	HP:0001631	Atrial septal defect	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.		23
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001627	HP:0025579	Abnormal left atrium morphology	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome			23
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0001627	HP:0001719	Double outlet right ventricle	2	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0001627	HP:0004383	Hypoplastic left heart	2	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0001627	HP:0001638	Cardiomyopathy	2	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1			47
HP:0001627	HP:0001638	Cardiomyopathy	2	NAGA CL E G H	4668	7631	ORPHA:79281	Alpha-N-acetylgalactosaminidase deficiency type 3			47
HP:0001627	HP:0001638	Cardiomyopathy	2	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0001627	HP:0001638	Cardiomyopathy	2	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2	HP:0040284 - Very rare
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0001627	HP:0001714	Ventricular hypertrophy	2	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0001627	HP:0001638	Cardiomyopathy	2	NBAS CL E G H	51594	15625	OMIM:616483	INFANTILE LIVER FAILURE SYNDROME 2; ILFS2			25
HP:0001627	HP:0001631	Atrial septal defect	2	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0001627	HP:0001631	Atrial septal defect	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0001627	HP:0001638	Cardiomyopathy	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0001627	HP:0001638	Cardiomyopathy	2	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0001627	HP:0001638	Cardiomyopathy	2	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001638	Cardiomyopathy	2	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001714	Ventricular hypertrophy	2	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001638	Cardiomyopathy	2	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0001627	HP:0001638	Cardiomyopathy	2	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001638	Cardiomyopathy	2	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0001627	HP:0001638	Cardiomyopathy	2	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001638	Cardiomyopathy	2	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001638	Cardiomyopathy	2	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001638	Cardiomyopathy	2	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001638	Cardiomyopathy	2	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001714	Ventricular hypertrophy	2	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001638	Cardiomyopathy	2	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001638	Cardiomyopathy	2	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001714	Ventricular hypertrophy	2	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0006698	Dilatation of the ventricular cavity	2	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040282 - Frequent		96
HP:0001627	HP:0001631	Atrial septal defect	2	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional		96
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			96
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFA10 CL E G H	4705	7684	OMIM:618243	Mitochondrial complex I deficiency, nuclear type 22			91
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14			32
HP:0001627	HP:0001714	Ventricular hypertrophy	2	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14			32
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFA2 CL E G H	4695	7685	OMIM:618235	Mitochondrial complex I deficiency, nuclear type 13			19
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11			40
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15			50
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFB10 CL E G H	4716	7696	OMIM:619003	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 35; MC1DN35
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFB11 CL E G H	54539	20372	OMIM:300952	Linear skin defects with multiple congenital anomalies 3			3
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0001627	HP:0001631	Atrial septal defect	2	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.		3
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7			3
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7			3
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7			3
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0001627	HP:0001631	Atrial septal defect	2	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6			65
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2			42
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0001627	HP:0001638	Cardiomyopathy	2	NDUFV2 CL E G H	4729	7717	OMIM:618229	Mitochondrial complex I deficiency, nuclear type 7			27
HP:0001627	HP:0001638	Cardiomyopathy	2	NEB CL E G H	4703	7720	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		745
HP:0001627	HP:0001638	Cardiomyopathy	2	NEB CL E G H	4703	7720	ORPHA:399103	Distal nebulin myopathy	HP:0040284 - Very rare		745
HP:0001627	HP:0001651	Dextrocardia	2	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip			4
HP:0001627	HP:0001696	Situs inversus totalis	2	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		4
HP:0001627	HP:0006695	Atrioventricular canal defect	2	NEK1 CL E G H	4750	7744	ORPHA:2751	Orofaciodigital syndrome type 2	HP:0040283 - Occasional		101
HP:0001627	HP:0001631	Atrial septal defect	2	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	HP:0040283 - Occasional		101
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly			101
HP:0001627	HP:0001651	Dextrocardia	2	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001696	Situs inversus totalis	2	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001719	Double outlet right ventricle	2	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001638	Cardiomyopathy	2	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2			43
HP:0001627	HP:0001651	Dextrocardia	2	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2			43
HP:0001627	HP:0001696	Situs inversus totalis	2	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	HP:0040283 - Occasional		43
HP:0001627	HP:0001631	Atrial septal defect	2	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy	.		9
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy			9
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy			9
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10			9
HP:0001627	HP:0001631	Atrial septal defect	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome
HP:0001627	HP:0001638	Cardiomyopathy	2	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.		43
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy
HP:0001627	HP:0001638	Cardiomyopathy	2	NEXN CL E G H	91624	29557	OMIM:613122	Cardiomyopathy, dilated, 1cc			167
HP:0001627	HP:0001638	Cardiomyopathy	2	NEXN CL E G H	91624	29557	OMIM:613876	Cardiomyopathy, familial hypertrophic, 20	.		167
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	NEXN CL E G H	91624	29557	OMIM:613876	Cardiomyopathy, familial hypertrophic, 20			167
HP:0001627	HP:0001714	Ventricular hypertrophy	2	NEXN CL E G H	91624	29557	OMIM:613876	Cardiomyopathy, familial hypertrophic, 20			167
HP:0001627	HP:0001638	Cardiomyopathy	2	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy			167
HP:0001627	HP:0001638	Cardiomyopathy	2	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome			1952
HP:0001627	HP:0001631	Atrial septal defect	2	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:0001627	HP:0001638	Cardiomyopathy	2	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0001627	HP:0001631	Atrial septal defect	2	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0001627	HP:0001638	Cardiomyopathy	2	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome			1952
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0001627	HP:0001631	Atrial septal defect	2	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia	HP:0040284 - Very rare		20
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia			20
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia			20
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome			40
HP:0001627	HP:0001631	Atrial septal defect	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.		40
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0001627	HP:0001638	Cardiomyopathy	2	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52			5
HP:0001627	HP:0001714	Ventricular hypertrophy	2	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0001627	HP:0001631	Atrial septal defect	2	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare		117
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome			117
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome			117
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome			117
HP:0001627	HP:0001631	Atrial septal defect	2	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare		1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome			1
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome			1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome			1
HP:0001627	HP:0001631	Atrial septal defect	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		494
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome			494
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1			494
HP:0001627	HP:0001631	Atrial septal defect	2	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0001627	HP:0001631	Atrial septal defect	2	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional		51
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome			51
HP:0001627	HP:0001631	Atrial septal defect	2	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0001627	HP:0001631	Atrial septal defect	2	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects			90
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects			90
HP:0001627	HP:0001714	Ventricular hypertrophy	2	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects			90
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects			90
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects			90
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects			90
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type			90
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type			90
HP:0001627	HP:0025580	Abnormal right atrium morphology	2	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type			90
HP:0001627	HP:0001719	Double outlet right ventricle	2	NKX2-5 CL E G H	1482	2488	OMIM:217095	Conotruncal heart malformations	.		90
HP:0001627	HP:0006695	Atrioventricular canal defect	2	NKX2-5 CL E G H	1482	2488	OMIM:217095	Conotruncal heart malformations			90
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	NKX2-5 CL E G H	1482	2488	OMIM:217095	Conotruncal heart malformations			90
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	NKX2-5 CL E G H	1482	2488	ORPHA:402075	Familial bicuspid aortic valve			90
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	NKX2-5 CL E G H	1482	2488	ORPHA:402075	Familial bicuspid aortic valve			90
HP:0001627	HP:0004383	Hypoplastic left heart	2	NKX2-5 CL E G H	1482	2488	ORPHA:402075	Familial bicuspid aortic valve	HP:0040284 - Very rare		90
HP:0001627	HP:0005146	Cardiac valve calcification	2	NKX2-5 CL E G H	1482	2488	ORPHA:402075	Familial bicuspid aortic valve			90
HP:0001627	HP:0001631	Atrial septal defect	2	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional		90
HP:0001627	HP:0004383	Hypoplastic left heart	2	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040281 - Very frequent		90
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome			90
HP:0001627	HP:0011546	Abnormal atrioventricular connection	2	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome			90
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome			90
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	NKX2-5 CL E G H	1482	2488	OMIM:614435	Hypoplastic left heart syndrome 2			90
HP:0001627	HP:0004383	Hypoplastic left heart	2	NKX2-5 CL E G H	1482	2488	OMIM:614435	Hypoplastic left heart syndrome 2	.		90
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	NKX2-5 CL E G H	1482	2488	OMIM:614435	Hypoplastic left heart syndrome 2			90
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NKX2-5 CL E G H	1482	2488	OMIM:614435	Hypoplastic left heart syndrome 2			90
HP:0001627	HP:0011546	Abnormal atrioventricular connection	2	NKX2-5 CL E G H	1482	2488	OMIM:614435	Hypoplastic left heart syndrome 2			90
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot			90
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	NKX2-5 CL E G H	1482	2488	OMIM:187500	Tetralogy of Fallot			90
HP:0001627	HP:0001631	Atrial septal defect	2	NKX2-5 CL E G H	1482	2488	OMIM:614432	Ventricular septal defect 3	HP:0040283 - Occasional		90
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NKX2-5 CL E G H	1482	2488	OMIM:614432	Ventricular septal defect 3			90
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NKX2-5 CL E G H	1482	2488	OMIM:614432	Ventricular septal defect 3			90
HP:0001627	HP:0001719	Double outlet right ventricle	2	NKX2-6 CL E G H	137814	32940	OMIM:217095	Conotruncal heart malformations	.		3
HP:0001627	HP:0006695	Atrioventricular canal defect	2	NKX2-6 CL E G H	137814	32940	OMIM:217095	Conotruncal heart malformations			3
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	NKX2-6 CL E G H	137814	32940	OMIM:217095	Conotruncal heart malformations			3
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot			3
HP:0001627	HP:0001631	Atrial septal defect	2	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional		3
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus			3
HP:0001627	HP:0001714	Ventricular hypertrophy	2	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus			3
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus			3
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus			3
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus			3
HP:0001627	HP:0001651	Dextrocardia	2	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0001627	HP:0001696	Situs inversus totalis	2	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		50
HP:0001627	HP:0001719	Double outlet right ventricle	2	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		50
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		50
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0001627	HP:0001638	Cardiomyopathy	2	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency			13
HP:0001627	HP:0001701	Pericarditis	2	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040283 - Occasional		187
HP:0001627	HP:0001701	Pericarditis	2	NOD2 CL E G H	64127	5331	OMIM:186580	Blau syndrome			187
HP:0001627	HP:0001701	Pericarditis	2	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0001627	HP:0001714	Ventricular hypertrophy	2	NOD2 CL E G H	64127	5331	OMIM:617321	YAO SYNDROME; YAOS			187
HP:0001627	HP:0001631	Atrial septal defect	2	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001627	HP:0001651	Dextrocardia	2	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001627	HP:0001719	Double outlet right ventricle	2	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001627	HP:0001750	Single ventricle	2	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001627	HP:0006695	Atrioventricular canal defect	2	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001627	HP:0011546	Abnormal atrioventricular connection	2	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly			45
HP:0001627	HP:0001631	Atrial septal defect	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional		10
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040282 - Frequent		10
HP:0001627	HP:0001714	Ventricular hypertrophy	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0001627	HP:0001631	Atrial septal defect	2	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0001627	HP:0001638	Cardiomyopathy	2	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0001627	HP:0001714	Ventricular hypertrophy	2	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0001627	HP:0030681	Abnormal morphology of myocardial trabeculae	2	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		452
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0001627	HP:0001631	Atrial septal defect	2	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0001627	HP:0001714	Ventricular hypertrophy	2	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0001627	HP:0025580	Abnormal right atrium morphology	2	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1			452
HP:0001627	HP:0001719	Double outlet right ventricle	2	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1	HP:0040284 - Very rare		452
HP:0001627	HP:0005146	Cardiac valve calcification	2	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1			452
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1			452
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1			452
HP:0001627	HP:0011546	Abnormal atrioventricular connection	2	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1			452
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1			452
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	NOTCH1 CL E G H	4851	7881	ORPHA:402075	Familial bicuspid aortic valve			452
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	NOTCH1 CL E G H	4851	7881	ORPHA:402075	Familial bicuspid aortic valve			452
HP:0001627	HP:0004383	Hypoplastic left heart	2	NOTCH1 CL E G H	4851	7881	ORPHA:402075	Familial bicuspid aortic valve	HP:0040284 - Very rare		452
HP:0001627	HP:0005146	Cardiac valve calcification	2	NOTCH1 CL E G H	4851	7881	ORPHA:402075	Familial bicuspid aortic valve			452
HP:0001627	HP:0001631	Atrial septal defect	2	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2	.		138
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2			138
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2			138
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome			144
HP:0001627	HP:0001631	Atrial septal defect	2	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0001627	HP:0001651	Dextrocardia	2	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0001627	HP:0001696	Situs inversus totalis	2	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0001627	HP:0001714	Ventricular hypertrophy	2	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0001627	HP:0001631	Atrial septal defect	2	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.		157
HP:0001627	HP:0001651	Dextrocardia	2	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0001627	HP:0001696	Situs inversus totalis	2	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0001627	HP:0025579	Abnormal left atrium morphology	2	NPPA CL E G H	4878	7939	OMIM:612201	Atrial fibrillation, familial, 6			13
HP:0001627	HP:0001638	Cardiomyopathy	2	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional		13
HP:0001627	HP:0030681	Abnormal morphology of myocardial trabeculae	2	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill			13
HP:0001627	HP:0001638	Cardiomyopathy	2	NPPA CL E G H	4878	7939	OMIM:615745	Atrial standstill 2	.		13
HP:0001627	HP:0006698	Dilatation of the ventricular cavity	2	NPPA CL E G H	4878	7939	OMIM:615745	Atrial standstill 2			13
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	NPR3 CL E G H	4883	7945	OMIM:619543	BOUDIN-MORTIER SYNDROME; BOMOS
HP:0001627	HP:0001631	Atrial septal defect	2	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5			13
HP:0001627	HP:0004383	Hypoplastic left heart	2	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5			13
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5			13
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5			13
HP:0001627	HP:0004383	Hypoplastic left heart	2	NR2F2 CL E G H	7026	7976	OMIM:615779	Congenital heart defects, multiple types, 4	.		13
HP:0001627	HP:0006695	Atrioventricular canal defect	2	NR2F2 CL E G H	7026	7976	OMIM:615779	Congenital heart defects, multiple types, 4	.		13
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NR2F2 CL E G H	7026	7976	OMIM:615779	Congenital heart defects, multiple types, 4			13
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	NR2F2 CL E G H	7026	7976	OMIM:615779	Congenital heart defects, multiple types, 4			13
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	NRAS CL E G H	4893	7989	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		102
HP:0001627	HP:0001638	Cardiomyopathy	2	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0001627	HP:0001631	Atrial septal defect	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		544
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome			544
HP:0001627	HP:0001631	Atrial septal defect	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0001627	HP:0001631	Atrial septal defect	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		118
HP:0001627	HP:0001631	Atrial septal defect	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome			118
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0001627	HP:0001750	Single ventricle	2	NSDHL CL E G H	50814	13398	OMIM:308050	Congenital hemidysplasia with ichthyosiform erythroderma and limb defects	.		34
HP:0001627	HP:0001714	Ventricular hypertrophy	2	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10	.		2
HP:0001627	HP:0001638	Cardiomyopathy	2	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0001627	HP:0001638	Cardiomyopathy	2	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7			5
HP:0001627	HP:0001638	Cardiomyopathy	2	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11			5
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11			5
HP:0001627	HP:0025579	Abnormal left atrium morphology	2	NUP155 CL E G H	9631	8063	OMIM:615770	Atrial fibrillation, familial, 15			1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0001627	HP:0001631	Atrial septal defect	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		2
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		2
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2			2
HP:0001627	HP:0001631	Atrial septal defect	2	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0001627	HP:0001651	Dextrocardia	2	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20	HP:0040283 - Occasional
HP:0001627	HP:0001696	Situs inversus totalis	2	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20	HP:0040283 - Occasional
HP:0001627	HP:0001651	Dextrocardia	2	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001696	Situs inversus totalis	2	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001719	Double outlet right ventricle	2	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001651	Dextrocardia	2	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0001627	HP:0001696	Situs inversus totalis	2	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0001627	HP:0001651	Dextrocardia	2	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001696	Situs inversus totalis	2	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001719	Double outlet right ventricle	2	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001651	Dextrocardia	2	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30	HP:0040283 - Occasional
HP:0001627	HP:0001696	Situs inversus totalis	2	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30	.
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30
HP:0001627	HP:0001651	Dextrocardia	2	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001696	Situs inversus totalis	2	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001719	Double outlet right ventricle	2	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001651	Dextrocardia	2	ODAD4 CL E G H	83538	25280	OMIM:617092	Ciliary dyskinesia, primary, 35
HP:0001627	HP:0001696	Situs inversus totalis	2	ODAD4 CL E G H	83538	25280	OMIM:617092	Ciliary dyskinesia, primary, 35	HP:0040283 - Occasional
HP:0001627	HP:0001651	Dextrocardia	2	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001696	Situs inversus totalis	2	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001719	Double outlet right ventricle	2	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001651	Dextrocardia	2	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0001627	HP:0001696	Situs inversus totalis	2	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		201
HP:0001627	HP:0001719	Double outlet right ventricle	2	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		201
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		201
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0001627	HP:0001638	Cardiomyopathy	2	OPA1 CL E G H	4976	8140	ORPHA:1215	Autosomal dominant optic atrophy plus syndrome	HP:0040284 - Very rare		214
HP:0001627	HP:0001638	Cardiomyopathy	2	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14			214
HP:0001627	HP:0001719	Double outlet right ventricle	2	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001627	HP:0001631	Atrial septal defect	2	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040283 - Occasional		4
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome			4
HP:0001627	HP:0001631	Atrial septal defect	2	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0001627	HP:0001651	Dextrocardia	2	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			41
HP:0001627	HP:0001696	Situs inversus totalis	2	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent		41
HP:0001627	HP:0001701	Pericarditis	2	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0001627	HP:0001719	Double outlet right ventricle	2	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0001627	HP:0001631	Atrial septal defect	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional		24
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0001627	HP:0001631	Atrial septal defect	2	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0001627	HP:0001719	Double outlet right ventricle	2	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040283 - Occasional		641
HP:0001627	HP:0004383	Hypoplastic left heart	2	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040282 - Frequent		641
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria			641
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria			641
HP:0001627	HP:0001651	Dextrocardia	2	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001631	Atrial septal defect	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1349
HP:0001627	HP:0001638	Cardiomyopathy	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1349
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N			1349
HP:0001627	HP:0001638	Cardiomyopathy	2	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75	HP:0040284 - Very rare		14
HP:0001627	HP:0001631	Atrial septal defect	2	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040283 - Occasional		59
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3			59
HP:0001627	HP:0001638	Cardiomyopathy	2	PCCA CL E G H	5095	8653	OMIM:606054	Propionic acidemia	.		96
HP:0001627	HP:0001638	Cardiomyopathy	2	PCCA CL E G H	5095	8653	ORPHA:35	Propionic acidemia	HP:0040283 - Occasional		96
HP:0001627	HP:0001638	Cardiomyopathy	2	PCCB CL E G H	5096	8654	ORPHA:35	Propionic acidemia	HP:0040283 - Occasional		92
HP:0001627	HP:0001638	Cardiomyopathy	2	PCCB CL E G H	5096	8654	OMIM:606054	Propionic acidemia	.		92
HP:0001627	HP:0001631	Atrial septal defect	2	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0001627	HP:0001631	Atrial septal defect	2	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040283 - Occasional		531
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II			531
HP:0001627	HP:0006693	Myocardial steatosis	2	PCSK9 CL E G H	255738	20001	ORPHA:391665	Homozygous familial hypercholesterolemia	HP:0040282 - Frequent		178
HP:0001627	HP:0011672	Cardiac myxoma	2	PDE11A CL E G H	50940	8773	ORPHA:1359	Carney complex	HP:0040282 - Frequent		13
HP:0001627	HP:0011672	Cardiac myxoma	2	PDE11A CL E G H	50940	8773	ORPHA:189439	Primary pigmented nodular adrenocortical disease			13
HP:0001627	HP:0011672	Cardiac myxoma	2	PDE8B CL E G H	8622	8794	ORPHA:189439	Primary pigmented nodular adrenocortical disease			75
HP:0001627	HP:0001638	Cardiomyopathy	2	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic			337
HP:0001627	HP:0006685	Endocardial fibrosis	2	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic	.		337
HP:0001627	HP:0001638	Cardiomyopathy	2	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0001627	HP:0001638	Cardiomyopathy	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0001627	HP:0001638	Cardiomyopathy	2	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0001627	HP:0001638	Cardiomyopathy	2	PEX1 CL E G H	5189	8850	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional		169
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)			169
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome			169
HP:0001627	HP:0001638	Cardiomyopathy	2	PEX10 CL E G H	5192	8851	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional		75
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome			75
HP:0001627	HP:0001638	Cardiomyopathy	2	PEX11B CL E G H	8799	8853	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional		4
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome			4
HP:0001627	HP:0001638	Cardiomyopathy	2	PEX12 CL E G H	5193	8854	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional		65
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome			65
HP:0001627	HP:0001638	Cardiomyopathy	2	PEX13 CL E G H	5194	8855	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional		66
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome			66
HP:0001627	HP:0001638	Cardiomyopathy	2	PEX14 CL E G H	5195	8856	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional		46
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome			46
HP:0001627	HP:0001638	Cardiomyopathy	2	PEX16 CL E G H	9409	8857	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional		59
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)			59
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome			59
HP:0001627	HP:0001638	Cardiomyopathy	2	PEX19 CL E G H	5824	9713	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional		62
HP:0001627	HP:0001631	Atrial septal defect	2	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.		62
HP:0001627	HP:0001719	Double outlet right ventricle	2	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.		62
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome			62
HP:0001627	HP:0001638	Cardiomyopathy	2	PEX2 CL E G H	5828	9717	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional		82
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome			82
HP:0001627	HP:0001638	Cardiomyopathy	2	PEX26 CL E G H	55670	22965	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional		106
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome			106
HP:0001627	HP:0001638	Cardiomyopathy	2	PEX3 CL E G H	8504	8858	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional		47
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome			47
HP:0001627	HP:0001638	Cardiomyopathy	2	PEX5 CL E G H	5830	9719	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional		99
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome			99
HP:0001627	HP:0001638	Cardiomyopathy	2	PEX6 CL E G H	5190	8859	ORPHA:772	Infantile Refsum disease	HP:0040283 - Occasional		98
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome			98
HP:0001627	HP:0001638	Cardiomyopathy	2	PEX7 CL E G H	5191	8860	OMIM:614879	Peroxisome biogenesis disorder 9B	HP:0040284 - Very rare		72
HP:0001627	HP:0001638	Cardiomyopathy	2	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease	.		72
HP:0001627	HP:0001638	Cardiomyopathy	2	PEX7 CL E G H	5191	8860	ORPHA:773	Refsum disease	HP:0040281 - Very frequent		72
HP:0001627	HP:0001631	Atrial septal defect	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0001627	HP:0001638	Cardiomyopathy	2	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0001627	HP:0001631	Atrial septal defect	2	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0001627	HP:0001638	Cardiomyopathy	2	PHKA2 CL E G H	5256	8926	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare		54
HP:0001627	HP:0001638	Cardiomyopathy	2	PHKG2 CL E G H	5261	8931	ORPHA:264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	HP:0040284 - Very rare		48
HP:0001627	HP:0001638	Cardiomyopathy	2	PHYH CL E G H	5264	8940	ORPHA:773	Refsum disease	HP:0040281 - Very frequent		45
HP:0001627	HP:0001638	Cardiomyopathy	2	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease	.		45
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			11
HP:0001627	HP:0001651	Dextrocardia	2	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome			4
HP:0001627	HP:0001696	Situs inversus totalis	2	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		4
HP:0001627	HP:0001631	Atrial septal defect	2	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0001627	HP:0001651	Dextrocardia	2	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040283 - Occasional		77
HP:0001627	HP:0001651	Dextrocardia	2	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.		77
HP:0001627	HP:0001696	Situs inversus totalis	2	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040283 - Occasional		77
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0001627	HP:0001631	Atrial septal defect	2	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0001627	HP:0001631	Atrial septal defect	2	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001627	HP:0001631	Atrial septal defect	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		7
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome			7
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0001627	HP:0001631	Atrial septal defect	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0001627	HP:0001714	Ventricular hypertrophy	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome			37
HP:0001627	HP:0001631	Atrial septal defect	2	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.		37
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1			37
HP:0001627	HP:0001631	Atrial septal defect	2	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy			2
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy			3
HP:0001627	HP:0001631	Atrial septal defect	2	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional		12
HP:0001627	HP:0001638	Cardiomyopathy	2	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome			12
HP:0001627	HP:0001638	Cardiomyopathy	2	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3			12
HP:0001627	HP:0100571	Cardiac diverticulum	2	PIK3CA CL E G H	5290	8975	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		162
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome			162
HP:0001627	HP:0001631	Atrial septal defect	2	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.		12
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome			12
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome			12
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PIK3R2 CL E G H	5296	8980	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome			12
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease			342
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	PKD1 CL E G H	5310	9008	OMIM:173900	Polycystic kidneys			342
HP:0001627	HP:0001651	Dextrocardia	2	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal			3
HP:0001627	HP:0001719	Double outlet right ventricle	2	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal	.		3
HP:0001627	HP:0004383	Hypoplastic left heart	2	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal	.		3
HP:0001627	HP:0006695	Atrioventricular canal defect	2	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal			3
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal			3
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal			3
HP:0001627	HP:0011540	Congenitally corrected transposition of the great arteries	2	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal			3
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal			3
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease			106
HP:0001627	HP:0001651	Dextrocardia	2	PKD2 CL E G H	5311	9009	OMIM:613095	Polycystic kidney disease 2	HP:0040283 - Occasional		106
HP:0001627	HP:0001631	Atrial septal defect	2	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001627	HP:0001638	Cardiomyopathy	2	PKP2 CL E G H	5318	9024	OMIM:609040	Arrhythmogenic right ventricular dysplasia, familial, 9			406
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	PKP2 CL E G H	5318	9024	OMIM:609040	Arrhythmogenic right ventricular dysplasia, familial, 9			406
HP:0001627	HP:0006698	Dilatation of the ventricular cavity	2	PKP2 CL E G H	5318	9024	OMIM:609040	Arrhythmogenic right ventricular dysplasia, familial, 9	.		406
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0001627	HP:0001719	Double outlet right ventricle	2	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0001627	HP:0001631	Atrial septal defect	2	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0001627	HP:0001750	Single ventricle	2	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0001627	HP:0025579	Abnormal left atrium morphology	2	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0001627	HP:0011546	Abnormal atrioventricular connection	2	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0001627	HP:0001638	Cardiomyopathy	2	PLN CL E G H	5350	9080	OMIM:609909	Cardiomyopathy, dilated, 1P			57
HP:0001627	HP:0001638	Cardiomyopathy	2	PLN CL E G H	5350	9080	OMIM:613874	Cardiomyopathy, familial hypertrophic, 18	.		57
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	PLN CL E G H	5350	9080	OMIM:613874	Cardiomyopathy, familial hypertrophic, 18			57
HP:0001627	HP:0001714	Ventricular hypertrophy	2	PLN CL E G H	5350	9080	OMIM:613874	Cardiomyopathy, familial hypertrophic, 18			57
HP:0001627	HP:0001638	Cardiomyopathy	2	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy			57
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0001627	HP:0001698	Pericardial effusion	2	PLVAP CL E G H	83483	13635	OMIM:618183	Diarrhea 10, protein-losing Enteropathy type	.
HP:0001627	HP:0001631	Atrial septal defect	2	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus
HP:0001627	HP:0001714	Ventricular hypertrophy	2	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus
HP:0001627	HP:0001638	Cardiomyopathy	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.		150
HP:0001627	HP:0001698	Pericardial effusion	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia	.		150
HP:0001627	HP:0001701	Pericarditis	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia			150
HP:0001627	HP:0001638	Cardiomyopathy	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG			150
HP:0001627	HP:0001698	Pericardial effusion	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional		150
HP:0001627	HP:0001701	Pericarditis	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040284 - Very rare		150
HP:0001627	HP:0100571	Cardiac diverticulum	2	PMS1 CL E G H	5378	9121	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		56
HP:0001627	HP:0100571	Cardiac diverticulum	2	PMS2 CL E G H	5395	9122	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		1121
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy			244
HP:0001627	HP:0001638	Cardiomyopathy	2	PNPLA2 CL E G H	57104	30802	OMIM:610717	Neutral lipid storage disease with myopathy	HP:0040283 - Occasional		65
HP:0001627	HP:0001638	Cardiomyopathy	2	PNPLA2 CL E G H	57104	30802	ORPHA:98908	Neutral lipid storage myopathy	HP:0040282 - Frequent		65
HP:0001627	HP:0001638	Cardiomyopathy	2	PNPLA2 CL E G H	57104	30802	ORPHA:565612	Triglyceride deposit cardiomyovasculopathy	HP:0040282 - Frequent		65
HP:0001627	HP:0001631	Atrial septal defect	2	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0001627	HP:0001631	Atrial septal defect	2	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome	.		2
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome			2
HP:0001627	HP:0001638	Cardiomyopathy	2	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0001627	HP:0001714	Ventricular hypertrophy	2	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			464
HP:0001627	HP:0001638	Cardiomyopathy	2	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040282 - Frequent		464
HP:0001627	HP:0001638	Cardiomyopathy	2	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	HP:0040283 - Occasional		464
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0001627	HP:0001638	Cardiomyopathy	2	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0001627	HP:0001638	Cardiomyopathy	2	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			464
HP:0001627	HP:0001638	Cardiomyopathy	2	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0001627	HP:0001714	Ventricular hypertrophy	2	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			45
HP:0001627	HP:0001631	Atrial septal defect	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0001627	HP:0001638	Cardiomyopathy	2	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040284 - Very rare		180
HP:0001627	HP:0001638	Cardiomyopathy	2	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040284 - Very rare		18
HP:0001627	HP:0001638	Cardiomyopathy	2	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040284 - Very rare		213
HP:0001627	HP:0001638	Cardiomyopathy	2	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	HP:0040283 - Occasional		213
HP:0001627	HP:0001638	Cardiomyopathy	2	POMT1 CL E G H	10585	9202	OMIM:609308	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1	HP:0040283 - Occasional		213
HP:0001627	HP:0001638	Cardiomyopathy	2	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040283 - Occasional		213
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11			213
HP:0001627	HP:0001714	Ventricular hypertrophy	2	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11			213
HP:0001627	HP:0001638	Cardiomyopathy	2	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040284 - Very rare		221
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2			221
HP:0001627	HP:0001714	Ventricular hypertrophy	2	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2			221
HP:0001627	HP:0001638	Cardiomyopathy	2	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14			221
HP:0001627	HP:0001631	Atrial septal defect	2	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.		76
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			76
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia			20
HP:0001627	HP:0001685	Myocardial fibrosis	2	PPA2 CL E G H	27068	28883	OMIM:617223	Sudden cardiac failure, alcohol-induced	.		8
HP:0001627	HP:0001638	Cardiomyopathy	2	PPA2 CL E G H	27068	28883	OMIM:617222	Sudden cardiac failure, infantile			8
HP:0001627	HP:0001685	Myocardial fibrosis	2	PPA2 CL E G H	27068	28883	OMIM:617222	Sudden cardiac failure, infantile	.		8
HP:0001627	HP:0012819	Myocarditis	2	PPA2 CL E G H	27068	28883	OMIM:617222	Sudden cardiac failure, infantile	.		8
HP:0001627	HP:0001638	Cardiomyopathy	2	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy			42
HP:0001627	HP:0001638	Cardiomyopathy	2	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy			42
HP:0001627	HP:0001638	Cardiomyopathy	2	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C
HP:0001627	HP:0001638	Cardiomyopathy	2	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0001627	HP:0001631	Atrial septal defect	2	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0001627	HP:0001638	Cardiomyopathy	2	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0001627	HP:0001631	Atrial septal defect	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0001627	HP:0001631	Atrial septal defect	2	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0001627	HP:0001638	Cardiomyopathy	2	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0001627	HP:0001631	Atrial septal defect	2	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare		10
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0001627	HP:0001631	Atrial septal defect	2	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome	HP:0040281 - Very frequent		28
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome			28
HP:0001627	HP:0001631	Atrial septal defect	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.		28
HP:0001627	HP:0001651	Dextrocardia	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0001627	HP:0001696	Situs inversus totalis	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0001627	HP:0001631	Atrial septal defect	2	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type	HP:0040282 - Frequent		28
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type			28
HP:0001627	HP:0001631	Atrial septal defect	2	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0001627	HP:0001638	Cardiomyopathy	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0001627	HP:0001638	Cardiomyopathy	2	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy			148
HP:0001627	HP:0001638	Cardiomyopathy	2	PRDM16 CL E G H	63976	14000	OMIM:615373	Left ventricular noncompaction 8			148
HP:0001627	HP:0030681	Abnormal morphology of myocardial trabeculae	2	PRDM16 CL E G H	63976	14000	OMIM:615373	Left ventricular noncompaction 8			148
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome			58
HP:0001627	HP:0001701	Pericarditis	2	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome			6
HP:0001627	HP:0001701	Pericarditis	2	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0001627	HP:0001631	Atrial septal defect	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001627	HP:0006695	Atrioventricular canal defect	2	PRKACA CL E G H	5566	9380	OMIM:619142	CARDIOACROFACIAL DYSPLASIA 1; CAFD1			2
HP:0001627	HP:0001631	Atrial septal defect	2	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		2
HP:0001627	HP:0001651	Dextrocardia	2	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		2
HP:0001627	HP:0001696	Situs inversus totalis	2	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		2
HP:0001627	HP:0006695	Atrioventricular canal defect	2	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		2
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001627	HP:0011672	Cardiac myxoma	2	PRKACA CL E G H	5566	9380	ORPHA:189439	Primary pigmented nodular adrenocortical disease			2
HP:0001627	HP:0006695	Atrioventricular canal defect	2	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2			2
HP:0001627	HP:0011565	Common atrium	2	PRKACB CL E G H	5567	9381	OMIM:619143	CARDIOACROFACIAL DYSPLASIA 2; CAFD2			2
HP:0001627	HP:0001631	Atrial septal defect	2	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		2
HP:0001627	HP:0001651	Dextrocardia	2	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		2
HP:0001627	HP:0001696	Situs inversus totalis	2	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		2
HP:0001627	HP:0006695	Atrioventricular canal defect	2	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040281 - Very frequent		2
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome			2
HP:0001627	HP:0001638	Cardiomyopathy	2	PRKAG2 CL E G H	51422	9386	OMIM:600858	Cardiomyopathy, familial hypertrophic, 6			235
HP:0001627	HP:0031318	Myofiber disarray	2	PRKAG2 CL E G H	51422	9386	OMIM:600858	Cardiomyopathy, familial hypertrophic, 6	.		235
HP:0001627	HP:0001638	Cardiomyopathy	2	PRKAG2 CL E G H	51422	9386	OMIM:261740	Glycogen storage disease of heart, lethal congenital	.		235
HP:0001627	HP:0001714	Ventricular hypertrophy	2	PRKAG2 CL E G H	51422	9386	OMIM:261740	Glycogen storage disease of heart, lethal congenital			235
HP:0001627	HP:0011672	Cardiac myxoma	2	PRKAR1A CL E G H	5573	9388	ORPHA:1359	Carney complex	HP:0040282 - Frequent		134
HP:0001627	HP:0011672	Cardiac myxoma	2	PRKAR1A CL E G H	5573	9388	OMIM:160980	Carney complex, type 1			134
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma			134
HP:0001627	HP:0100584	Endocarditis	2	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma			134
HP:0001627	HP:0011672	Cardiac myxoma	2	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma	HP:0040280 - Obligate		134
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	PRKAR1A CL E G H	5573	9388	OMIM:255960	Myxoma, intracardiac			134
HP:0001627	HP:0100584	Endocarditis	2	PRKAR1A CL E G H	5573	9388	OMIM:255960	Myxoma, intracardiac			134
HP:0001627	HP:0011672	Cardiac myxoma	2	PRKAR1A CL E G H	5573	9388	OMIM:255960	Myxoma, intracardiac	.		134
HP:0001627	HP:0011672	Cardiac myxoma	2	PRKAR1A CL E G H	5573	9388	ORPHA:189439	Primary pigmented nodular adrenocortical disease			134
HP:0001627	HP:0001638	Cardiomyopathy	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			41
HP:0001627	HP:0001631	Atrial septal defect	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0001627	HP:0001651	Dextrocardia	2	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome			4
HP:0001627	HP:0001696	Situs inversus totalis	2	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent		4
HP:0001627	HP:0001631	Atrial septal defect	2	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex			4
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex			4
HP:0001627	HP:0001701	Pericarditis	2	PRTN3 CL E G H	5657	9495	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional
HP:0001627	HP:0001638	Cardiomyopathy	2	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0001627	HP:0001638	Cardiomyopathy	2	PSEN1 CL E G H	5663	9508	OMIM:613694	Cardiomyopathy, dilated, 1U			241
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	PSEN1 CL E G H	5663	9508	OMIM:613694	Cardiomyopathy, dilated, 1U			241
HP:0001627	HP:0001714	Ventricular hypertrophy	2	PSEN1 CL E G H	5663	9508	OMIM:613694	Cardiomyopathy, dilated, 1U			241
HP:0001627	HP:0001638	Cardiomyopathy	2	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy			241
HP:0001627	HP:0001638	Cardiomyopathy	2	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V			59
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V			59
HP:0001627	HP:0001714	Ventricular hypertrophy	2	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V			59
HP:0001627	HP:0001638	Cardiomyopathy	2	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy			59
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0001627	HP:0009729	Cardiac rhabdomyoma	2	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0001627	HP:0010617	Cardiac fibroma	2	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly			665
HP:0001627	HP:0010617	Cardiac fibroma	2	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040281 - Very frequent		665
HP:0001627	HP:0009729	Cardiac rhabdomyoma	2	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0001627	HP:0010617	Cardiac fibroma	2	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0001627	HP:0001631	Atrial septal defect	2	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional		948
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy			948
HP:0001627	HP:0001631	Atrial septal defect	2	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0001627	HP:0001638	Cardiomyopathy	2	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	PTPN11 CL E G H	5781	9644	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		291
HP:0001627	HP:0001631	Atrial septal defect	2	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0001627	HP:0001638	Cardiomyopathy	2	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0001627	HP:0001638	Cardiomyopathy	2	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent		291
HP:0001627	HP:0006695	Atrioventricular canal defect	2	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent		291
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines			291
HP:0001627	HP:0001698	Pericardial effusion	2	PTPN14 CL E G H	5784	9647	OMIM:613611	Choanal atresia and lymphedema	.		1
HP:0001627	HP:0001701	Pericarditis	2	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0001627	HP:0001719	Double outlet right ventricle	2	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0001627	HP:0001701	Pericarditis	2	PTPN22 CL E G H	26191	9652	ORPHA:900	Granulomatosis with polyangiitis	HP:0040283 - Occasional		3
HP:0001627	HP:0001701	Pericarditis	2	PTPN22 CL E G H	26191	9652	OMIM:152700	Systemic lupus erythematosus	.		3
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0001627	HP:0006695	Atrioventricular canal defect	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional		19
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome			19
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0001627	HP:0006695	Atrioventricular canal defect	2	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional		19
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0001627	HP:0001638	Cardiomyopathy	2	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency			71
HP:0001627	HP:0001638	Cardiomyopathy	2	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency			166
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0001627	HP:0001638	Cardiomyopathy	2	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0001627	HP:0001631	Atrial septal defect	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0001627	HP:0001638	Cardiomyopathy	2	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1	.		135
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0001627	HP:0001631	Atrial septal defect	2	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0001627	HP:0001631	Atrial septal defect	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		25
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome			25
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome			25
HP:0001627	HP:0001631	Atrial septal defect	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		9
HP:0001627	HP:0001638	Cardiomyopathy	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		9
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0001627	HP:0001631	Atrial septal defect	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		391
HP:0001627	HP:0001638	Cardiomyopathy	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		391
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0001627	HP:0001638	Cardiomyopathy	2	RAF1 CL E G H	5894	9829	OMIM:615916	Cardiomyopathy, dilated, 1nn			212
HP:0001627	HP:0001638	Cardiomyopathy	2	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy			212
HP:0001627	HP:0001638	Cardiomyopathy	2	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2			212
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	RAF1 CL E G H	5894	9829	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		212
HP:0001627	HP:0001631	Atrial septal defect	2	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0001627	HP:0001638	Cardiomyopathy	2	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0001627	HP:0001638	Cardiomyopathy	2	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent		212
HP:0001627	HP:0006695	Atrioventricular canal defect	2	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent		212
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines			212
HP:0001627	HP:0001631	Atrial septal defect	2	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional		150
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0001627	HP:0001719	Double outlet right ventricle	2	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional		150
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0001627	HP:0025579	Abnormal left atrium morphology	2	RARB CL E G H	5915	9865	OMIM:615524	Microphthalmia, syndromic 12			9
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RARB CL E G H	5915	9865	OMIM:615524	Microphthalmia, syndromic 12			9
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	RASA2 CL E G H	5922	9872	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		3
HP:0001627	HP:0001638	Cardiomyopathy	2	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency			10
HP:0001627	HP:0001631	Atrial septal defect	2	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040281 - Very frequent		16
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome			16
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0001627	HP:0001638	Cardiomyopathy	2	RBM20 CL E G H	282996	27424	OMIM:613172	Cardiomyopathy, dilated, 1dd			363
HP:0001627	HP:0001638	Cardiomyopathy	2	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy			363
HP:0001627	HP:0001631	Atrial septal defect	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome	.		10
HP:0001627	HP:0006695	Atrioventricular canal defect	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome			10
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		3
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0001627	HP:0001631	Atrial septal defect	2	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional		334
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type			334
HP:0001627	HP:0001638	Cardiomyopathy	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0001627	HP:0001631	Atrial septal defect	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome			16
HP:0001627	HP:0001631	Atrial septal defect	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001638	Cardiomyopathy	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0001627	HP:0001631	Atrial septal defect	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0001627	HP:0001638	Cardiomyopathy	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0001627	HP:0001631	Atrial septal defect	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	RIT1 CL E G H	6016	10023	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		39
HP:0001627	HP:0001631	Atrial septal defect	2	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0001627	HP:0001638	Cardiomyopathy	2	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0001627	HP:0001714	Ventricular hypertrophy	2	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0001627	HP:0001638	Cardiomyopathy	2	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	HP:0040283 - Occasional		26
HP:0001627	HP:0001638	Cardiomyopathy	2	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent		37
HP:0001627	HP:0001638	Cardiomyopathy	2	RNASEH1 CL E G H	246243	18466	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040283 - Occasional		3
HP:0001627	HP:0001638	Cardiomyopathy	2	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0001627	HP:0001638	Cardiomyopathy	2	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0001627	HP:0001638	Cardiomyopathy	2	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0001627	HP:0001638	Cardiomyopathy	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy			3
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	RNF135 CL E G H	84282	21158	ORPHA:137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	HP:0040283 - Occasional		11
HP:0001627	HP:0001638	Cardiomyopathy	2	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23			1
HP:0001627	HP:0001631	Atrial septal defect	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0001627	HP:0001638	Cardiomyopathy	2	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0001627	HP:0001638	Cardiomyopathy	2	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome			15
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0001627	HP:0001638	Cardiomyopathy	2	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0001627	HP:0001698	Pericardial effusion	2	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001627	HP:0001701	Pericarditis	2	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001627	HP:0001714	Ventricular hypertrophy	2	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001627	HP:0001631	Atrial septal defect	2	ROBO4 CL E G H	54538	17985	OMIM:618496	Aortic valve disease 3	HP:0040284 - Very rare
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	ROBO4 CL E G H	54538	17985	OMIM:618496	Aortic valve disease 3
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ROBO4 CL E G H	54538	17985	OMIM:618496	Aortic valve disease 3
HP:0001627	HP:0001631	Atrial septal defect	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		120
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		120
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1			120
HP:0001627	HP:0001651	Dextrocardia	2	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0001627	HP:0001696	Situs inversus totalis	2	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		200
HP:0001627	HP:0001719	Double outlet right ventricle	2	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		200
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		200
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0001627	HP:0001651	Dextrocardia	2	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome			109
HP:0001627	HP:0001696	Situs inversus totalis	2	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		109
HP:0001627	HP:0001651	Dextrocardia	2	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome			167
HP:0001627	HP:0001696	Situs inversus totalis	2	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		167
HP:0001627	HP:0001631	Atrial septal defect	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0001627	HP:0001631	Atrial septal defect	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:0001627	HP:0006698	Dilatation of the ventricular cavity	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:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome			10
HP:0001627	HP:0001631	Atrial septal defect	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		22
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001627	HP:0001631	Atrial septal defect	2	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0001627	HP:0001631	Atrial septal defect	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		3
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RPL15 CL E G H	6138	10306	OMIM:615550	Diamond-Blackfan anemia 12			3
HP:0001627	HP:0001631	Atrial septal defect	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia
HP:0001627	HP:0001631	Atrial septal defect	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		3
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11			3
HP:0001627	HP:0001631	Atrial septal defect	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001627	HP:0001631	Atrial septal defect	2	RPL27 CL E G H	6155	10328	OMIM:617408	Diamond-Blackfan anemia 16	.		1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RPL27 CL E G H	6155	10328	OMIM:617408	Diamond-Blackfan anemia 16			1
HP:0001627	HP:0001631	Atrial septal defect	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia
HP:0001627	HP:0001631	Atrial septal defect	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia
HP:0001627	HP:0001631	Atrial septal defect	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		11
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia			11
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5			11
HP:0001627	HP:0033997	Perinuclear cardiomyocyte vacuolization	2	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0001627	HP:0001631	Atrial septal defect	2	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0001627	HP:0001638	Cardiomyopathy	2	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0001627	HP:0001685	Myocardial fibrosis	2	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0001627	HP:0025580	Abnormal right atrium morphology	2	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0001627	HP:0001631	Atrial septal defect	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		40
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia			40
HP:0001627	HP:0001631	Atrial septal defect	2	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0001627	HP:0001714	Ventricular hypertrophy	2	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6	.		40
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0001627	HP:0001631	Atrial septal defect	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		26
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia			26
HP:0001627	HP:0001631	Atrial septal defect	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia
HP:0001627	HP:0001631	Atrial septal defect	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		5
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia			5
HP:0001627	HP:0001631	Atrial septal defect	2	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4	.		5
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4			5
HP:0001627	HP:0001631	Atrial septal defect	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		42
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia			42
HP:0001627	HP:0001631	Atrial septal defect	2	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0001627	HP:0001631	Atrial septal defect	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001627	HP:0100571	Cardiac diverticulum	2	RPS20 CL E G H	6224	10405	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		1
HP:0001627	HP:0001631	Atrial septal defect	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		22
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia			22
HP:0001627	HP:0001631	Atrial septal defect	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		20
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10			20
HP:0001627	HP:0001631	Atrial septal defect	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001627	HP:0001631	Atrial septal defect	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001627	HP:0001631	Atrial septal defect	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		3
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia			3
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040283 - Occasional		65
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome			65
HP:0001627	HP:0001631	Atrial septal defect	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		20
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia			20
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	RRAS CL E G H	6237	10447	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	RRAS2 CL E G H	22800	17271	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0001627	HP:0001631	Atrial septal defect	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0001638	Cardiomyopathy	2	RRM2B CL E G H	50484	17296	ORPHA:329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	HP:0040283 - Occasional		125
HP:0001627	HP:0001638	Cardiomyopathy	2	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0001627	HP:0001714	Ventricular hypertrophy	2	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			125
HP:0001627	HP:0001651	Dextrocardia	2	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0001627	HP:0001696	Situs inversus totalis	2	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		31
HP:0001627	HP:0001719	Double outlet right ventricle	2	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		31
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		31
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0001627	HP:0001651	Dextrocardia	2	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0001627	HP:0001696	Situs inversus totalis	2	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		5
HP:0001627	HP:0001719	Double outlet right ventricle	2	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		5
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		5
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0001627	HP:0001651	Dextrocardia	2	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0001627	HP:0001696	Situs inversus totalis	2	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		58
HP:0001627	HP:0001719	Double outlet right ventricle	2	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		58
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		58
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0001627	HP:0001651	Dextrocardia	2	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0001627	HP:0001696	Situs inversus totalis	2	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		20
HP:0001627	HP:0001719	Double outlet right ventricle	2	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		20
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		20
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2
HP:0001627	HP:0001631	Atrial septal defect	2	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
HP:0001627	HP:0001631	Atrial septal defect	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0001627	HP:0001638	Cardiomyopathy	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy			1200
HP:0001627	HP:0001714	Ventricular hypertrophy	2	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy			1200
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease			1200
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0001627	HP:0031320	Cardiomyocyte mitochondrial proliferation	2	RYR1 CL E G H	6261	10483	ORPHA:423	Malignant hyperthermia of anesthesia	HP:0040282 - Frequent		1200
HP:0001627	HP:0001638	Cardiomyopathy	2	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			1200
HP:0001627	HP:0001638	Cardiomyopathy	2	RYR2 CL E G H	6262	10484	OMIM:600996	Arrhythmogenic right ventricular dysplasia, familial, 2			1103
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	RYR2 CL E G H	6262	10484	OMIM:600996	Arrhythmogenic right ventricular dysplasia, familial, 2			1103
HP:0001627	HP:0006698	Dilatation of the ventricular cavity	2	RYR2 CL E G H	6262	10484	OMIM:600996	Arrhythmogenic right ventricular dysplasia, familial, 2	.		1103
HP:0001627	HP:0001638	Cardiomyopathy	2	RYR2 CL E G H	6262	10484	OMIM:115000	CARDIAC ARRHYTHMIA			1103
HP:0001627	HP:0001638	Cardiomyopathy	2	RYR2 CL E G H	6262	10484	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1			1103
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay			309
HP:0001627	HP:0001631	Atrial septal defect	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		124
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		124
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0001627	HP:0001631	Atrial septal defect	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome			86
HP:0001627	HP:0001631	Atrial septal defect	2	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.		86
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome			86
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome			86
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome			86
HP:0001627	HP:0001638	Cardiomyopathy	2	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0001627	HP:0001638	Cardiomyopathy	2	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia			4
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement			34
HP:0001627	HP:0001700	Myocardial necrosis	2	SBDS CL E G H	51119	19440	OMIM:260400	Shwachman-Diamond syndrome 1	.		26
HP:0001627	HP:0001698	Pericardial effusion	2	SCARB2 CL E G H	950	1665	ORPHA:77259	Gaucher disease type 1	HP:0040283 - Occasional		77
HP:0001627	HP:0025579	Abnormal left atrium morphology	2	SCN1B CL E G H	6324	10586	OMIM:615377	Atrial fibrillation, familial, 13			126
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy			126
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy			427
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	SCN5A CL E G H	6331	10593	OMIM:614022	Atrial fibrillation, familial, 10			1134
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	SCN5A CL E G H	6331	10593	OMIM:614022	Atrial fibrillation, familial, 10			1134
HP:0001627	HP:0001714	Ventricular hypertrophy	2	SCN5A CL E G H	6331	10593	OMIM:614022	Atrial fibrillation, familial, 10			1134
HP:0001627	HP:0025579	Abnormal left atrium morphology	2	SCN5A CL E G H	6331	10593	OMIM:614022	Atrial fibrillation, familial, 10			1134
HP:0001627	HP:0001638	Cardiomyopathy	2	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040283 - Occasional		1134
HP:0001627	HP:0030681	Abnormal morphology of myocardial trabeculae	2	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill			1134
HP:0001627	HP:0001638	Cardiomyopathy	2	SCN5A CL E G H	6331	10593	OMIM:601154	Cardiomyopathy, dilated, 1E			1134
HP:0001627	HP:0001638	Cardiomyopathy	2	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy			1134
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0001627	HP:0001714	Ventricular hypertrophy	2	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0001627	HP:0001638	Cardiomyopathy	2	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0001627	HP:0031318	Myofiber disarray	2	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0001627	HP:0001638	Cardiomyopathy	2	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0001627	HP:0001631	Atrial septal defect	2	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:0001627	HP:0011994	Abnormal atrial septum morphology	2	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:0001627	HP:0001638	Cardiomyopathy	2	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg			304
HP:0001627	HP:0030681	Abnormal morphology of myocardial trabeculae	2	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg			304
HP:0001627	HP:0001638	Cardiomyopathy	2	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy			304
HP:0001627	HP:0001638	Cardiomyopathy	2	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0001627	HP:0001714	Ventricular hypertrophy	2	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			304
HP:0001627	HP:0001638	Cardiomyopathy	2	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0001627	HP:0001638	Cardiomyopathy	2	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency			304
HP:0001627	HP:0030681	Abnormal morphology of myocardial trabeculae	2	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency			304
HP:0001627	HP:0001638	Cardiomyopathy	2	SDHA CL E G H	6389	10680	OMIM:619259	NEURODEGENERATION WITH ATAXIA AND LATE-ONSET OPTIC ATROPHY; NDAXOA			304
HP:0001627	HP:0001638	Cardiomyopathy	2	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0001627	HP:0001714	Ventricular hypertrophy	2	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			16
HP:0001627	HP:0001638	Cardiomyopathy	2	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0001627	HP:0001714	Ventricular hypertrophy	2	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			237
HP:0001627	HP:0001638	Cardiomyopathy	2	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0001627	HP:0001714	Ventricular hypertrophy	2	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency			129
HP:0001627	HP:0001631	Atrial septal defect	2	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0001627	HP:0001638	Cardiomyopathy	2	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0001627	HP:0001714	Ventricular hypertrophy	2	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0001627	HP:0030681	Abnormal morphology of myocardial trabeculae	2	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0001627	HP:0001631	Atrial septal defect	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0001627	HP:0001714	Ventricular hypertrophy	2	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy			144
HP:0001627	HP:0001638	Cardiomyopathy	2	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			144
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		16
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0001627	HP:0100571	Cardiac diverticulum	2	SEMA4A CL E G H	64218	10729	ORPHA:440437	Familial colorectal cancer Type X	HP:0040283 - Occasional		48
HP:0001627	HP:0001685	Myocardial fibrosis	2	SERPINE1 CL E G H	5054	8583	ORPHA:465	Congenital plasminogen activator inhibitor type 1 deficiency	HP:0040284 - Very rare		39
HP:0001627	HP:0001631	Atrial septal defect	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.		143
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome			143
HP:0001627	HP:0001631	Atrial septal defect	2	SETD1A CL E G H	9739	29010	OMIM:618832	EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD			6
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SETD1A CL E G H	9739	29010	OMIM:618832	EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD			6
HP:0001627	HP:0001631	Atrial septal defect	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		60
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome			60
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency			43
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency			51
HP:0001627	HP:0001714	Ventricular hypertrophy	2	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency			51
HP:0001627	HP:0001638	Cardiomyopathy	2	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D	HP:0040283 - Occasional		132
HP:0001627	HP:0001638	Cardiomyopathy	2	SGCB CL E G H	6443	10806	ORPHA:119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4	HP:0040283 - Occasional		113
HP:0001627	HP:0001638	Cardiomyopathy	2	SGCB CL E G H	6443	10806	OMIM:604286	Muscular dystrophy, limb-girdle, type 2E			113
HP:0001627	HP:0001638	Cardiomyopathy	2	SGCD CL E G H	6444	10807	OMIM:606685	CARDIOMYOPATHY, DILATED, 1L; CMD1L			223
HP:0001627	HP:0001638	Cardiomyopathy	2	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy			223
HP:0001627	HP:0001714	Ventricular hypertrophy	2	SGCD CL E G H	6444	10807	OMIM:601287	Muscular dystrophy, limb-girdle, type 2F	.		223
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5			83
HP:0001627	HP:0001714	Ventricular hypertrophy	2	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5			83
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	SGO1 CL E G H	151648	25088	OMIM:616201	Chronic atrial and intestinal dysrhythmia			2
HP:0001627	HP:0001638	Cardiomyopathy	2	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0001627	HP:0001631	Atrial septal defect	2	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001651	Dextrocardia	2	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040284 - Very rare
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0001627	HP:0001631	Atrial septal defect	2	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0001627	HP:0001719	Double outlet right ventricle	2	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome			134
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly			67
HP:0001627	HP:0001631	Atrial septal defect	2	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0001627	HP:0001638	Cardiomyopathy	2	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0001627	HP:0001638	Cardiomyopathy	2	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0001627	HP:0001631	Atrial septal defect	2	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0001627	HP:0001638	Cardiomyopathy	2	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0001627	HP:0001631	Atrial septal defect	2	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy			11
HP:0001627	HP:0001631	Atrial septal defect	2	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type	.
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0001627	HP:0001750	Single ventricle	2	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2	.		32
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly			32
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3			20
HP:0001627	HP:0001638	Cardiomyopathy	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent		150
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0001627	HP:0001631	Atrial septal defect	2	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0001627	HP:0001631	Atrial septal defect	2	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0001627	HP:0001698	Pericardial effusion	2	SLC12A3 CL E G H	6559	10912	ORPHA:358	Gitelman syndrome	HP:0040284 - Very rare		145
HP:0001627	HP:0001631	Atrial septal defect	2	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	.		55
HP:0001627	HP:0001631	Atrial septal defect	2	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome	HP:0040283 - Occasional		55
HP:0001627	HP:0001638	Cardiomyopathy	2	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	HP:0040283 - Occasional		55
HP:0001627	HP:0001651	Dextrocardia	2	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0001627	HP:0001696	Situs inversus totalis	2	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	HP:0040283 - Occasional		55
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome			55
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome			55
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome			55
HP:0001627	HP:0001638	Cardiomyopathy	2	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0001627	HP:0001638	Cardiomyopathy	2	SLC1A3 CL E G H	6507	10941	ORPHA:2131	Alternating hemiplegia of childhood	HP:0040284 - Very rare		63
HP:0001627	HP:0001638	Cardiomyopathy	2	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary			207
HP:0001627	HP:0001706	Endocardial fibroelastosis	2	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.		207
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0001627	HP:0001714	Ventricular hypertrophy	2	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0001627	HP:0001638	Cardiomyopathy	2	SLC25A20 CL E G H	788	1421	ORPHA:159	Carnitine-acylcarnitine translocase deficiency	HP:0040281 - Very frequent		40
HP:0001627	HP:0001638	Cardiomyopathy	2	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency	.		40
HP:0001627	HP:0001714	Ventricular hypertrophy	2	SLC25A20 CL E G H	788	1421	OMIM:212138	Carnitine-acylcarnitine translocase deficiency	.		40
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy			166
HP:0001627	HP:0001631	Atrial septal defect	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001627	HP:0001714	Ventricular hypertrophy	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001627	HP:0001638	Cardiomyopathy	2	SLC25A3 CL E G H	5250	10989	ORPHA:91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome			35
HP:0001627	HP:0001638	Cardiomyopathy	2	SLC25A3 CL E G H	5250	10989	OMIM:610773	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY			35
HP:0001627	HP:0001638	Cardiomyopathy	2	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0001627	HP:0001714	Ventricular hypertrophy	2	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			68
HP:0001627	HP:0001638	Cardiomyopathy	2	SLC25A4 CL E G H	291	10990	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome			68
HP:0001627	HP:0001638	Cardiomyopathy	2	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0001627	HP:0001714	Ventricular hypertrophy	2	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0001627	HP:0001638	Cardiomyopathy	2	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant			68
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis			68
HP:0001627	HP:0001631	Atrial septal defect	2	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0001627	HP:0001638	Cardiomyopathy	2	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome			178
HP:0001627	HP:0001714	Ventricular hypertrophy	2	SLC2A10 CL E G H	81031	13444	OMIM:208050	Arterial tortuosity syndrome	.		178
HP:0001627	HP:0012819	Myocarditis	2	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional		178
HP:0001627	HP:0001638	Cardiomyopathy	2	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome			42
HP:0001627	HP:0005146	Cardiac valve calcification	2	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0001627	HP:0001631	Atrial septal defect	2	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0001627	HP:0001631	Atrial septal defect	2	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0001627	HP:0001651	Dextrocardia	2	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0001627	HP:0001696	Situs inversus totalis	2	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0001627	HP:0001638	Cardiomyopathy	2	SLC40A1 CL E G H	30061	10909	OMIM:606069	Hemochromatosis, type 4			56
HP:0001627	HP:0001638	Cardiomyopathy	2	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis			109
HP:0001627	HP:0001638	Cardiomyopathy	2	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0001627	HP:0001638	Cardiomyopathy	2	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0001627	HP:0001631	Atrial septal defect	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		274
HP:0001627	HP:0001638	Cardiomyopathy	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		274
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0001627	HP:0001631	Atrial septal defect	2	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0001627	HP:0001651	Dextrocardia	2	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0001627	HP:0001719	Double outlet right ventricle	2	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0001627	HP:0006695	Atrioventricular canal defect	2	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			7
HP:0001627	HP:0001714	Ventricular hypertrophy	2	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6			7
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome			260
HP:0001627	HP:0001714	Ventricular hypertrophy	2	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome			260
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			260
HP:0001627	HP:0001631	Atrial septal defect	2	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0001627	HP:0001714	Ventricular hypertrophy	2	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			504
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome			504
HP:0001627	HP:0001631	Atrial septal defect	2	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0001627	HP:0001698	Pericardial effusion	2	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.		504
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	SMAD6 CL E G H	4091	6772	OMIM:614823	Aortic valve disease 2			33
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	SMAD6 CL E G H	4091	6772	ORPHA:402075	Familial bicuspid aortic valve			33
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	SMAD6 CL E G H	4091	6772	ORPHA:402075	Familial bicuspid aortic valve			33
HP:0001627	HP:0004383	Hypoplastic left heart	2	SMAD6 CL E G H	4091	6772	ORPHA:402075	Familial bicuspid aortic valve	HP:0040284 - Very rare		33
HP:0001627	HP:0005146	Cardiac valve calcification	2	SMAD6 CL E G H	4091	6772	ORPHA:402075	Familial bicuspid aortic valve			33
HP:0001627	HP:0001631	Atrial septal defect	2	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040282 - Frequent		146
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type			146
HP:0001627	HP:0001631	Atrial septal defect	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		617
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0001627	HP:0001631	Atrial septal defect	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		87
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0001627	HP:0001631	Atrial septal defect	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0001627	HP:0001631	Atrial septal defect	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0001627	HP:0001631	Atrial septal defect	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		47
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0001627	HP:0001631	Atrial septal defect	2	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0001627	HP:0001631	Atrial septal defect	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		135
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome			135
HP:0001627	HP:0001638	Cardiomyopathy	2	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2			135
HP:0001627	HP:0001631	Atrial septal defect	2	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0001627	HP:0001631	Atrial septal defect	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		91
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome			91
HP:0001627	HP:0001631	Atrial septal defect	2	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0001627	HP:0001631	Atrial septal defect	2	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0001627	HP:0011642	Abnormal coronary sinus morphology	2	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0001627	HP:0001631	Atrial septal defect	2	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I	.		22
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I			22
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I			22
HP:0001627	HP:0031318	Myofiber disarray	2	SMPX CL E G H	23676	11122	OMIM:301075	MYOPATHY, DISTAL, 7, ADULT-ONSET, X-LINKED; MPD7			12
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism			3
HP:0001627	HP:0001631	Atrial septal defect	2	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.		6
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome			6
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome			6
HP:0001627	HP:0001631	Atrial septal defect	2	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional		2
HP:0001627	HP:0001631	Atrial septal defect	2	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional		14
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome			14
HP:0001627	HP:0001631	Atrial septal defect	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome			12
HP:0001627	HP:0001631	Atrial septal defect	2	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	SOS1 CL E G H	6654	11187	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		315
HP:0001627	HP:0001631	Atrial septal defect	2	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0001627	HP:0001638	Cardiomyopathy	2	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	SOS2 CL E G H	6655	11188	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent		30
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9			30
HP:0001627	HP:0001631	Atrial septal defect	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		14
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome			33
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3			33
HP:0001627	HP:0001631	Atrial septal defect	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10
HP:0001627	HP:0009729	Cardiac rhabdomyoma	2	SOX6 CL E G H	55553	16421	OMIM:618971	TOLCHIN-LE CAIGNEC SYNDROME; TOLCAS			1
HP:0001627	HP:0006685	Endocardial fibrosis	2	SP110 CL E G H	3431	5401	OMIM:235550	Hepatic venoocclusive disease with immunodeficiency	.		49
HP:0001627	HP:0001651	Dextrocardia	2	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28			45
HP:0001627	HP:0001696	Situs inversus totalis	2	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28	.		45
HP:0001627	HP:0001651	Dextrocardia	2	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0001627	HP:0001696	Situs inversus totalis	2	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		45
HP:0001627	HP:0001719	Double outlet right ventricle	2	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		45
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		45
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0001627	HP:0001631	Atrial septal defect	2	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040284 - Very rare		19
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome			19
HP:0001627	HP:0001631	Atrial septal defect	2	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.		6
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type			6
HP:0001627	HP:0001631	Atrial septal defect	2	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040283 - Occasional		6
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0001627	HP:0001651	Dextrocardia	2	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0001627	HP:0001696	Situs inversus totalis	2	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		15
HP:0001627	HP:0001719	Double outlet right ventricle	2	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		15
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		15
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy			20
HP:0001627	HP:0001714	Ventricular hypertrophy	2	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy			20
HP:0001627	HP:0001638	Cardiomyopathy	2	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5			20
HP:0001627	HP:0001638	Cardiomyopathy	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0001627	HP:0004383	Hypoplastic left heart	2	SPOP CL E G H	8405	11254	OMIM:618829	NABAIS SA-DE VRIES SYNDROME, TYPE 2; NSDVS2			16
HP:0001627	HP:0001698	Pericardial effusion	2	SPP1 CL E G H	6696	11255	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	SPRED2 CL E G H	200734	17722	ORPHA:648	Noonan syndrome	HP:0040282 - Frequent
HP:0001627	HP:0001638	Cardiomyopathy	2	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0001627	HP:0001638	Cardiomyopathy	2	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis			228
HP:0001627	HP:0001638	Cardiomyopathy	2	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis			156
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001627	HP:0001631	Atrial septal defect	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040284 - Very rare		138
HP:0001627	HP:0001631	Atrial septal defect	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	HP:0040283 - Occasional		138
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0001627	HP:0011599	Mesocardia	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040284 - Very rare		138
HP:0001627	HP:0011599	Mesocardia	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	HP:0040283 - Occasional		138
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome			138
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary			1
HP:0001627	HP:0001700	Myocardial necrosis	2	SRP54 CL E G H	6729	11301	OMIM:260400	Shwachman-Diamond syndrome 1	.
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0001627	HP:0001631	Atrial septal defect	2	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0001627	HP:0001719	Double outlet right ventricle	2	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0001627	HP:0004383	Hypoplastic left heart	2	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0001627	HP:0004383	Hypoplastic left heart	2	STAG2 CL E G H	10735	11355	OMIM:301022	Neurodevelopmental disorder, X-linked, with craniofacial abnormalities	HP:0040284 - Very rare		1
HP:0001627	HP:0001631	Atrial septal defect	2	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.		24
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0001627	HP:0001714	Ventricular hypertrophy	2	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome			24
HP:0001627	HP:0001638	Cardiomyopathy	2	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency			45
HP:0001627	HP:0001631	Atrial septal defect	2	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0001627	HP:0001701	Pericarditis	2	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0001627	HP:0100584	Endocarditis	2	STAT4 CL E G H	6775	11365	ORPHA:117	Behçet disease	HP:0040283 - Occasional		2
HP:0001627	HP:0001698	Pericardial effusion	2	STAT4 CL E G H	6775	11365	ORPHA:93552	Pediatric systemic lupus erythematosus	HP:0040282 - Frequent		2
HP:0001627	HP:0001651	Dextrocardia	2	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0001627	HP:0001696	Situs inversus totalis	2	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		3
HP:0001627	HP:0001719	Double outlet right ventricle	2	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		3
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		3
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0001627	HP:0001631	Atrial septal defect	2	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS	.		4
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS			4
HP:0001627	HP:0001631	Atrial septal defect	2	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.		71
HP:0001627	HP:0001750	Single ventricle	2	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.		71
HP:0001627	HP:0025579	Abnormal left atrium morphology	2	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0001627	HP:0001631	Atrial septal defect	2	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0001627	HP:0001631	Atrial septal defect	2	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	HP:0040283 - Occasional		6
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome			6
HP:0001627	HP:0001631	Atrial septal defect	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001638	Cardiomyopathy	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0001627	HP:0001631	Atrial septal defect	2	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0001627	HP:0001638	Cardiomyopathy	2	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0001627	HP:0009729	Cardiac rhabdomyoma	2	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0001627	HP:0010617	Cardiac fibroma	2	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0001627	HP:0001651	Dextrocardia	2	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome			124
HP:0001627	HP:0001696	Situs inversus totalis	2	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		124
HP:0001627	HP:0001638	Cardiomyopathy	2	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32			124
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly			124
HP:0001627	HP:0006695	Atrioventricular canal defect	2	SUPT16H CL E G H	11198	11465	OMIM:619480	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM; NEDDFAC
HP:0001627	HP:0001638	Cardiomyopathy	2	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0001627	HP:0001638	Cardiomyopathy	2	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0001627	HP:0001638	Cardiomyopathy	2	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0001627	HP:0001714	Ventricular hypertrophy	2	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0001627	HP:0001638	Cardiomyopathy	2	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			1129
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	SYNE1 CL E G H	23345	17089	OMIM:612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant			1129
HP:0001627	HP:0001638	Cardiomyopathy	2	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			508
HP:0001627	HP:0001638	Cardiomyopathy	2	SYNE2 CL E G H	23224	17084	OMIM:612999	Emery-Dreifuss muscular dystrophy 5, autosomal dominant	.		508
HP:0001627	HP:0001631	Atrial septal defect	2	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome			1
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2			11
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2			11
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2			11
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2			11
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2			11
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome			11
HP:0001627	HP:0001638	Cardiomyopathy	2	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0001627	HP:0001638	Cardiomyopathy	2	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40			7
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome			7
HP:0001627	HP:0001638	Cardiomyopathy	2	TAFAZZIN CL E G H	6901	11577	ORPHA:111	Barth syndrome
HP:0001627	HP:0001638	Cardiomyopathy	2	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome
HP:0001627	HP:0001706	Endocardial fibroelastosis	2	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0001627	HP:0001706	Endocardial fibroelastosis	2	TAFAZZIN CL E G H	6901	11577	ORPHA:111	Barth syndrome	HP:0040282 - Frequent
HP:0001627	HP:0001638	Cardiomyopathy	2	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy
HP:0001627	HP:0001631	Atrial septal defect	2	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.		34
HP:0001627	HP:0001631	Atrial septal defect	2	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency	HP:0040283 - Occasional		34
HP:0001627	HP:0001714	Ventricular hypertrophy	2	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency			34
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency			34
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency			34
HP:0001627	HP:0001638	Cardiomyopathy	2	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration			12
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0001627	HP:0001638	Cardiomyopathy	2	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0001627	HP:0001638	Cardiomyopathy	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy
HP:0001627	HP:0001631	Atrial septal defect	2	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0001627	HP:0001631	Atrial septal defect	2	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0001627	HP:0001719	Double outlet right ventricle	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional		271
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome			13
HP:0001627	HP:0001631	Atrial septal defect	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001638	Cardiomyopathy	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0001627	HP:0001631	Atrial septal defect	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		32
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		32
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0001627	HP:0004383	Hypoplastic left heart	2	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional		32
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome			32
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome			32
HP:0001627	HP:0001719	Double outlet right ventricle	2	TBX1 CL E G H	6899	11592	OMIM:217095	Conotruncal heart malformations	.		32
HP:0001627	HP:0006695	Atrioventricular canal defect	2	TBX1 CL E G H	6899	11592	OMIM:217095	Conotruncal heart malformations			32
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	TBX1 CL E G H	6899	11592	OMIM:217095	Conotruncal heart malformations			32
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot			32
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	TBX1 CL E G H	6899	11592	OMIM:187500	Tetralogy of Fallot			32
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0001627	HP:0001631	Atrial septal defect	2	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0001627	HP:0001719	Double outlet right ventricle	2	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0001627	HP:0001631	Atrial septal defect	2	TBX20 CL E G H	57057	11598	OMIM:611363	ATRIAL SEPTAL DEFECT 4; ASD4			20
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TBX20 CL E G H	57057	11598	OMIM:611363	ATRIAL SEPTAL DEFECT 4; ASD4			20
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type			20
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type			20
HP:0001627	HP:0025580	Abnormal right atrium morphology	2	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type			20
HP:0001627	HP:0001631	Atrial septal defect	2	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome	HP:0040283 - Occasional		28
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome			28
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome			100
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome			100
HP:0001627	HP:0001631	Atrial septal defect	2	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional		55
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome			55
HP:0001627	HP:0001631	Atrial septal defect	2	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome	HP:0040282 - Frequent		123
HP:0001627	HP:0001631	Atrial septal defect	2	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome			123
HP:0001627	HP:0004383	Hypoplastic left heart	2	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome	HP:0040283 - Occasional		123
HP:0001627	HP:0004383	Hypoplastic left heart	2	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome	.		123
HP:0001627	HP:0006695	Atrioventricular canal defect	2	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome	HP:0040283 - Occasional		123
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome			123
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome			123
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome			123
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome			123
HP:0001627	HP:0001638	Cardiomyopathy	2	TCAP CL E G H	8557	11610	OMIM:607487	Cardiomyopathy, familial hypertrophic, 25			78
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	TCAP CL E G H	8557	11610	OMIM:607487	Cardiomyopathy, familial hypertrophic, 25			78
HP:0001627	HP:0001714	Ventricular hypertrophy	2	TCAP CL E G H	8557	11610	OMIM:607487	Cardiomyopathy, familial hypertrophic, 25			78
HP:0001627	HP:0001638	Cardiomyopathy	2	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy			78
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional		82
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis			82
HP:0001627	HP:0001651	Dextrocardia	2	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome			45
HP:0001627	HP:0001696	Situs inversus totalis	2	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		45
HP:0001627	HP:0001651	Dextrocardia	2	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome			45
HP:0001627	HP:0001696	Situs inversus totalis	2	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		45
HP:0001627	HP:0001651	Dextrocardia	2	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome			76
HP:0001627	HP:0001696	Situs inversus totalis	2	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		76
HP:0001627	HP:0001651	Dextrocardia	2	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome			76
HP:0001627	HP:0001696	Situs inversus totalis	2	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		76
HP:0001627	HP:0001698	Pericardial effusion	2	TCTN2 CL E G H	79867	25774	OMIM:613885	Meckel syndrome, type 8			76
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18			31
HP:0001627	HP:0001651	Dextrocardia	2	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome			31
HP:0001627	HP:0001696	Situs inversus totalis	2	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		31
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly			1
HP:0001627	HP:0001638	Cardiomyopathy	2	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2			238
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome			104
HP:0001627	HP:0001638	Cardiomyopathy	2	TFR2 CL E G H	7036	11762	OMIM:604250	Hemochromatosis, type 3	.		67
HP:0001627	HP:0001631	Atrial septal defect	2	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040283 - Occasional		6
HP:0001627	HP:0001651	Dextrocardia	2	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.		6
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome			6
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome			6
HP:0001627	HP:0001638	Cardiomyopathy	2	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease			13
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			162
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4			162
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4			162
HP:0001627	HP:0001638	Cardiomyopathy	2	TGFB3 CL E G H	7043	11769	OMIM:107970	Arrhythmogenic right ventricular dysplasia, familial, 1			85
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	TGFB3 CL E G H	7043	11769	OMIM:107970	Arrhythmogenic right ventricular dysplasia, familial, 1			85
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			85
HP:0001627	HP:0001631	Atrial septal defect	2	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			239
HP:0001627	HP:0001631	Atrial septal defect	2	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			253
HP:0001627	HP:0001631	Atrial septal defect	2	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0001627	HP:0100571	Cardiac diverticulum	2	TGFBR2 CL E G H	7048	11773	ORPHA:144	Lynch syndrome	HP:0040283 - Occasional		253
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly			32
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome			1
HP:0001627	HP:0001631	Atrial septal defect	2	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12			2
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TIAM1 CL E G H	7074	11805	OMIM:619908				2
HP:0001627	HP:0001638	Cardiomyopathy	2	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0001627	HP:0001638	Cardiomyopathy	2	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040282 - Frequent		103
HP:0001627	HP:0001638	Cardiomyopathy	2	TKFC CL E G H	26007	24552	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
HP:0001627	HP:0001638	Cardiomyopathy	2	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0001627	HP:0001631	Atrial septal defect	2	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects	.		4
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects			4
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects			4
HP:0001627	HP:0001631	Atrial septal defect	2	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040282 - Frequent		4
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency			4
HP:0001627	HP:0001631	Atrial septal defect	2	TLL1 CL E G H	7092	11843	OMIM:613087	Atrial septal defect 6	.		6
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TLL1 CL E G H	7092	11843	OMIM:613087	Atrial septal defect 6			6
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type			6
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type			6
HP:0001627	HP:0001714	Ventricular hypertrophy	2	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type			6
HP:0001627	HP:0025579	Abnormal left atrium morphology	2	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type			6
HP:0001627	HP:0025580	Abnormal right atrium morphology	2	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type			6
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type			6
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type			6
HP:0001627	HP:0025580	Abnormal right atrium morphology	2	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type			6
HP:0001627	HP:0001701	Pericarditis	2	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional		3
HP:0001627	HP:0100584	Endocarditis	2	TLR4 CL E G H	7099	11850	ORPHA:117	Behçet disease	HP:0040283 - Occasional		3
HP:0001627	HP:0001631	Atrial septal defect	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome			6
HP:0001627	HP:0001651	Dextrocardia	2	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome			4
HP:0001627	HP:0001696	Situs inversus totalis	2	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		4
HP:0001627	HP:0001638	Cardiomyopathy	2	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy			23
HP:0001627	HP:0001638	Cardiomyopathy	2	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0001627	HP:0001638	Cardiomyopathy	2	TMEM126B CL E G H	55863	30883	OMIM:618250	Mitochondrial complex I deficiency, nuclear type 29			4
HP:0001627	HP:0001631	Atrial septal defect	2	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0001627	HP:0001651	Dextrocardia	2	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome			45
HP:0001627	HP:0001696	Situs inversus totalis	2	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		45
HP:0001627	HP:0001651	Dextrocardia	2	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0001627	HP:0001696	Situs inversus totalis	2	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0001627	HP:0004383	Hypoplastic left heart	2	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0001627	HP:0001651	Dextrocardia	2	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome			33
HP:0001627	HP:0001696	Situs inversus totalis	2	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		33
HP:0001627	HP:0001651	Dextrocardia	2	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome			82
HP:0001627	HP:0001696	Situs inversus totalis	2	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		82
HP:0001627	HP:0001651	Dextrocardia	2	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome			82
HP:0001627	HP:0001696	Situs inversus totalis	2	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		82
HP:0001627	HP:0001631	Atrial septal defect	2	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0001627	HP:0001631	Atrial septal defect	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001638	Cardiomyopathy	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0001627	HP:0001638	Cardiomyopathy	2	TMEM43 CL E G H	79188	28472	OMIM:604400	Arrhythmogenic right ventricular dysplasia, familial, 5			171
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	TMEM43 CL E G H	79188	28472	OMIM:604400	Arrhythmogenic right ventricular dysplasia, familial, 5			171
HP:0001627	HP:0001638	Cardiomyopathy	2	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy			171
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0001627	HP:0001651	Dextrocardia	2	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome			166
HP:0001627	HP:0001696	Situs inversus totalis	2	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		166
HP:0001627	HP:0001651	Dextrocardia	2	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome			166
HP:0001627	HP:0001696	Situs inversus totalis	2	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		166
HP:0001627	HP:0001638	Cardiomyopathy	2	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2			63
HP:0001627	HP:0001638	Cardiomyopathy	2	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy			63
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040282 - Frequent		63
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040282 - Frequent		63
HP:0001627	HP:0001631	Atrial septal defect	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.		1
HP:0001627	HP:0001719	Double outlet right ventricle	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.		1
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0001627	HP:0001638	Cardiomyopathy	2	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy			136
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis			72
HP:0001627	HP:0001701	Pericarditis	2	TNFRSF1A CL E G H	7132	11916	ORPHA:32960	Tumor necrosis factor receptor 1 associated periodic syndrome	HP:0040281 - Very frequent		131
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040283 - Occasional		44
HP:0001627	HP:0001638	Cardiomyopathy	2	TNNC1 CL E G H	7134	11943	OMIM:611879	CARDIOMYOPATHY, DILATED, 1Z; CMD1Z			73
HP:0001627	HP:0001638	Cardiomyopathy	2	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13			73
HP:0001627	HP:0001714	Ventricular hypertrophy	2	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13			73
HP:0001627	HP:0001638	Cardiomyopathy	2	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy			73
HP:0001627	HP:0001638	Cardiomyopathy	2	TNNI3 CL E G H	7137	11947	OMIM:613286	Cardiomyopathy, dilated, 1ff			180
HP:0001627	HP:0001638	Cardiomyopathy	2	TNNI3 CL E G H	7137	11947	OMIM:611880	Cardiomyopathy, dilated, 2A			180
HP:0001627	HP:0031319	Cardiomyocyte hypertrophy	2	TNNI3 CL E G H	7137	11947	OMIM:611880	Cardiomyopathy, dilated, 2A			180
HP:0001627	HP:0001638	Cardiomyopathy	2	TNNI3 CL E G H	7137	11947	OMIM:613690	Cardiomyopathy, familial hypertrophic, 7	.		180
HP:0001627	HP:0001714	Ventricular hypertrophy	2	TNNI3 CL E G H	7137	11947	OMIM:613690	Cardiomyopathy, familial hypertrophic, 7	.		180
HP:0001627	HP:0001638	Cardiomyopathy	2	TNNI3 CL E G H	7137	11947	OMIM:115210	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1			180
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	TNNI3 CL E G H	7137	11947	OMIM:115210	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1			180
HP:0001627	HP:0001714	Ventricular hypertrophy	2	TNNI3 CL E G H	7137	11947	OMIM:115210	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1			180
HP:0001627	HP:0025579	Abnormal left atrium morphology	2	TNNI3 CL E G H	7137	11947	OMIM:115210	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1			180
HP:0001627	HP:0001638	Cardiomyopathy	2	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy			180
HP:0001627	HP:0001638	Cardiomyopathy	2	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy			180
HP:0001627	HP:0001685	Myocardial fibrosis	2	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy			180
HP:0001627	HP:0025579	Abnormal left atrium morphology	2	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy			180
HP:0001627	HP:0025580	Abnormal right atrium morphology	2	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy			180
HP:0001627	HP:0001638	Cardiomyopathy	2	TNNI3K CL E G H	51086	19661	OMIM:616117	Cardiac conduction disease with or without dilated cardiomyopathy			1
HP:0001627	HP:0001638	Cardiomyopathy	2	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D			248
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D			248
HP:0001627	HP:0001714	Ventricular hypertrophy	2	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D			248
HP:0001627	HP:0030681	Abnormal morphology of myocardial trabeculae	2	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D			248
HP:0001627	HP:0001638	Cardiomyopathy	2	TNNT2 CL E G H	7139	11949	OMIM:115195	Cardiomyopathy, familial hypertrophic, 2			248
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TNNT2 CL E G H	7139	11949	OMIM:115195	Cardiomyopathy, familial hypertrophic, 2			248
HP:0001627	HP:0001638	Cardiomyopathy	2	TNNT2 CL E G H	7139	11949	OMIM:612422	Cardiomyopathy, familial restrictive, 3	.		248
HP:0001627	HP:0001638	Cardiomyopathy	2	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy			248
HP:0001627	HP:0001638	Cardiomyopathy	2	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy			248
HP:0001627	HP:0001685	Myocardial fibrosis	2	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy			248
HP:0001627	HP:0025579	Abnormal left atrium morphology	2	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy			248
HP:0001627	HP:0025580	Abnormal right atrium morphology	2	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy			248
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1			134
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like			134
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like			134
HP:0001627	HP:0001651	Dextrocardia	2	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0001627	HP:0001696	Situs inversus totalis	2	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001631	Atrial septal defect	2	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0001627	HP:0001638	Cardiomyopathy	2	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate			140
HP:0001627	HP:0001651	Dextrocardia	2	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip			140
HP:0001627	HP:0001696	Situs inversus totalis	2	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		140
HP:0001627	HP:0001638	Cardiomyopathy	2	TPI1 CL E G H	7167	12009	ORPHA:868	Triose phosphate-isomerase deficiency			28
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0001627	HP:0001714	Ventricular hypertrophy	2	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0001627	HP:0001638	Cardiomyopathy	2	TPM1 CL E G H	7168	12010	OMIM:611878	Cardiomyopathy, dilated, 1Y			230
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	TPM1 CL E G H	7168	12010	OMIM:611878	Cardiomyopathy, dilated, 1Y			230
HP:0001627	HP:0001638	Cardiomyopathy	2	TPM1 CL E G H	7168	12010	OMIM:115196	Cardiomyopathy, familial hypertrophic, 3			230
HP:0001627	HP:0001638	Cardiomyopathy	2	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy			230
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy			54
HP:0001627	HP:0001638	Cardiomyopathy	2	TPM2 CL E G H	7169	12011	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		54
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy			54
HP:0001627	HP:0001638	Cardiomyopathy	2	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			54
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy			108
HP:0001627	HP:0001638	Cardiomyopathy	2	TPM3 CL E G H	7170	12012	ORPHA:171439	Childhood-onset nemaline myopathy	HP:0040283 - Occasional		108
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy			108
HP:0001627	HP:0001638	Cardiomyopathy	2	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion			108
HP:0001627	HP:0001719	Double outlet right ventricle	2	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0001627	HP:0004383	Hypoplastic left heart	2	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0001627	HP:0001631	Atrial septal defect	2	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9	.		2
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9			2
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome			27
HP:0001627	HP:0001638	Cardiomyopathy	2	TRDN CL E G H	10345	12261	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1			145
HP:0001627	HP:0001638	Cardiomyopathy	2	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0001627	HP:0001638	Cardiomyopathy	2	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0001627	HP:0001638	Cardiomyopathy	2	TREX1 CL E G H	11277	12269	ORPHA:247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	HP:0040283 - Occasional		56
HP:0001627	HP:0001701	Pericarditis	2	TREX1 CL E G H	11277	12269	OMIM:152700	Systemic lupus erythematosus	.		56
HP:0001627	HP:0001685	Myocardial fibrosis	2	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism	.		78
HP:0001627	HP:0005132	Pericardial constriction	2	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism			78
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy			1
HP:0001627	HP:0001631	Atrial septal defect	2	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0001627	HP:0006695	Atrioventricular canal defect	2	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome			8
HP:0001627	HP:0001631	Atrial septal defect	2	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		2
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0001627	HP:0001631	Atrial septal defect	2	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0001627	HP:0001638	Cardiomyopathy	2	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30			3
HP:0001627	HP:0001714	Ventricular hypertrophy	2	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30			3
HP:0001627	HP:0001638	Cardiomyopathy	2	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001714	Ventricular hypertrophy	2	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001638	Cardiomyopathy	2	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0001627	HP:0001638	Cardiomyopathy	2	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001714	Ventricular hypertrophy	2	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001638	Cardiomyopathy	2	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001638	Cardiomyopathy	2	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0001627	HP:0001638	Cardiomyopathy	2	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001638	Cardiomyopathy	2	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001714	Ventricular hypertrophy	2	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001638	Cardiomyopathy	2	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness
HP:0001627	HP:0001638	Cardiomyopathy	2	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001638	Cardiomyopathy	2	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001714	Ventricular hypertrophy	2	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001638	Cardiomyopathy	2	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0001627	HP:0001638	Cardiomyopathy	2	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001714	Ventricular hypertrophy	2	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001638	Cardiomyopathy	2	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001638	Cardiomyopathy	2	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001714	Ventricular hypertrophy	2	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001638	Cardiomyopathy	2	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001714	Ventricular hypertrophy	2	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001638	Cardiomyopathy	2	TRNT CL E G H	4576	7499	ORPHA:254857	Lethal infantile mitochondrial myopathy	HP:0040282 - Frequent
HP:0001627	HP:0001638	Cardiomyopathy	2	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0001627	HP:0001638	Cardiomyopathy	2	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001714	Ventricular hypertrophy	2	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001638	Cardiomyopathy	2	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001638	Cardiomyopathy	2	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001714	Ventricular hypertrophy	2	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes
HP:0001627	HP:0001631	Atrial septal defect	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0001627	HP:0001698	Pericardial effusion	2	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0001627	HP:0009729	Cardiac rhabdomyoma	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		1090
HP:0001627	HP:0009729	Cardiac rhabdomyoma	2	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.		1090
HP:0001627	HP:0001698	Pericardial effusion	2	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0001627	HP:0009729	Cardiac rhabdomyoma	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040282 - Frequent		2738
HP:0001627	HP:0009729	Cardiac rhabdomyoma	2	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2			2738
HP:0001627	HP:0001631	Atrial septal defect	2	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3			43
HP:0001627	HP:0001638	Cardiomyopathy	2	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3			43
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3			43
HP:0001627	HP:0001631	Atrial septal defect	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia			1
HP:0001627	HP:0001651	Dextrocardia	2	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001696	Situs inversus totalis	2	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001719	Double outlet right ventricle	2	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0001631	Atrial septal defect	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001627	HP:0001651	Dextrocardia	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001627	HP:0001696	Situs inversus totalis	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001627	HP:0006695	Atrioventricular canal defect	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001627	HP:0010774	Cor triatriatum	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001627	HP:0011565	Common atrium	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum			26
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome			26
HP:0001627	HP:0001651	Dextrocardia	2	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8			41
HP:0001627	HP:0001696	Situs inversus totalis	2	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8	HP:0040283 - Occasional		41
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy			7128
HP:0001627	HP:0001714	Ventricular hypertrophy	2	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy			7128
HP:0001627	HP:0001638	Cardiomyopathy	2	TTN CL E G H	7273	12403	OMIM:604145	CARDIOMYOPATHY, DILATED, 1G; CMD1G			7128
HP:0001627	HP:0001638	Cardiomyopathy	2	TTN CL E G H	7273	12403	OMIM:613765	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9; CMH9			7128
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy			7128
HP:0001627	HP:0001714	Ventricular hypertrophy	2	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy			7128
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy			7128
HP:0001627	HP:0001638	Cardiomyopathy	2	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy			7128
HP:0001627	HP:0001638	Cardiomyopathy	2	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy			7128
HP:0001627	HP:0001638	Cardiomyopathy	2	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency			62
HP:0001627	HP:0001638	Cardiomyopathy	2	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related	.		107
HP:0001627	HP:0001638	Cardiomyopathy	2	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis			107
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis			107
HP:0001627	HP:0001714	Ventricular hypertrophy	2	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis			107
HP:0001627	HP:0030843	Cardiac amyloidosis	2	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis			107
HP:0001627	HP:0001638	Cardiomyopathy	2	TTR CL E G H	7276	12405	ORPHA:85447	ATTRV30M amyloidosis	HP:0040282 - Frequent		107
HP:0001627	HP:0001631	Atrial septal defect	2	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare		14
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome			14
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome			14
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome			14
HP:0001627	HP:0001638	Cardiomyopathy	2	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0001627	HP:0001638	Cardiomyopathy	2	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0001627	HP:0001714	Ventricular hypertrophy	2	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia			113
HP:0001627	HP:0001638	Cardiomyopathy	2	TWNK CL E G H	56652	1160	OMIM:609286	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3	HP:0040283 - Occasional		113
HP:0001627	HP:0001638	Cardiomyopathy	2	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0001627	HP:0001638	Cardiomyopathy	2	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome			113
HP:0001627	HP:0001750	Single ventricle	2	TXNDC15 CL E G H	79770	20652	OMIM:619879				2
HP:0001627	HP:0001651	Dextrocardia	2	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome			2
HP:0001627	HP:0001696	Situs inversus totalis	2	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		2
HP:0001627	HP:0001631	Atrial septal defect	2	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.		19
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome			19
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome			19
HP:0001627	HP:0001638	Cardiomyopathy	2	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency			85
HP:0001627	HP:0001638	Cardiomyopathy	2	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy			85
HP:0001627	HP:0001701	Pericarditis	2	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001627	HP:0100584	Endocarditis	2	UBAC2 CL E G H	337867	20486	ORPHA:117	Behçet disease	HP:0040283 - Occasional
HP:0001627	HP:0001631	Atrial septal defect	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0001627	HP:0001719	Double outlet right ventricle	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional		7
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0001627	HP:0001631	Atrial septal defect	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		2
HP:0001627	HP:0001638	Cardiomyopathy	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		2
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0001627	HP:0001631	Atrial septal defect	2	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0001627	HP:0001638	Cardiomyopathy	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0001627	HP:0001631	Atrial septal defect	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.		25
HP:0001627	HP:0001638	Cardiomyopathy	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0001627	HP:0001651	Dextrocardia	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0001627	HP:0001651	Dextrocardia	2	UBR1 CL E G H	197131	16808	ORPHA:2315	Johanson-Blizzard syndrome	HP:0040283 - Occasional		25
HP:0001627	HP:0001696	Situs inversus totalis	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.		25
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome			25
HP:0001627	HP:0001631	Atrial septal defect	2	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0001627	HP:0001638	Cardiomyopathy	2	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency			15
HP:0001627	HP:0001631	Atrial septal defect	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0001631	Atrial septal defect	2	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria	HP:0040283 - Occasional		135
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria			135
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria			135
HP:0001627	HP:0001631	Atrial septal defect	2	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent		33
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome			33
HP:0001627	HP:0001631	Atrial septal defect	2	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5			17
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5			17
HP:0001627	HP:0001638	Cardiomyopathy	2	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001627	HP:0001698	Pericardial effusion	2	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001627	HP:0001631	Atrial septal defect	2	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2			2
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2			2
HP:0001627	HP:0001631	Atrial septal defect	2	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.		27
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted			27
HP:0001627	HP:0001631	Atrial septal defect	2	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:0001627	HP:0001638	Cardiomyopathy	2	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:0001627	HP:0011994	Abnormal atrial septum morphology	2	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability			27
HP:0001627	HP:0001631	Atrial septal defect	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional		6
HP:0001627	HP:0001638	Cardiomyopathy	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		6
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0001627	HP:0001638	Cardiomyopathy	2	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20			56
HP:0001627	HP:0030681	Abnormal morphology of myocardial trabeculae	2	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20			56
HP:0001627	HP:0001638	Cardiomyopathy	2	VCL CL E G H	7414	12665	OMIM:611407	CARDIOMYOPATHY, DILATED, 1W; CMD1W			248
HP:0001627	HP:0001638	Cardiomyopathy	2	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15			248
HP:0001627	HP:0006685	Endocardial fibrosis	2	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15	.		248
HP:0001627	HP:0031318	Myofiber disarray	2	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15			248
HP:0001627	HP:0031319	Cardiomyocyte hypertrophy	2	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15			248
HP:0001627	HP:0001638	Cardiomyopathy	2	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy			248
HP:0001627	HP:0001638	Cardiomyopathy	2	VCP CL E G H	7415	12666	ORPHA:52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	HP:0040283 - Occasional		63
HP:0001627	HP:0001638	Cardiomyopathy	2	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040283 - Occasional		490
HP:0001627	HP:0012819	Myocarditis	2	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040284 - Very rare		490
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0001627	HP:0001714	Ventricular hypertrophy	2	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2			27
HP:0001627	HP:0001638	Cardiomyopathy	2	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis			130
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0001627	HP:0001631	Atrial septal defect	2	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040282 - Frequent		1
HP:0001627	HP:0001638	Cardiomyopathy	2	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0001627	HP:0001631	Atrial septal defect	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0001627	HP:0001638	Cardiomyopathy	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0001627	HP:0001631	Atrial septal defect	2	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.		63
HP:0001627	HP:0001707	Abnormal right ventricle morphology	2	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0001627	HP:0001714	Ventricular hypertrophy	2	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0001627	HP:0006695	Atrioventricular canal defect	2	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0001627	HP:0001631	Atrial septal defect	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001638	Cardiomyopathy	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1			533
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0001627	HP:0001714	Ventricular hypertrophy	2	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:0001627	HP:0010438	Abnormal ventricular septum morphology	2	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0001627	HP:0001638	Cardiomyopathy	2	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	HP:0040284 - Very rare		2
HP:0001627	HP:0001638	Cardiomyopathy	2	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional		2
HP:0001627	HP:0001631	Atrial septal defect	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent		83
HP:0001627	HP:0004383	Hypoplastic left heart	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent		83
HP:0001627	HP:0006695	Atrioventricular canal defect	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent		83
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0001627	HP:0001631	Atrial septal defect	2	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.		83
HP:0001627	HP:0001719	Double outlet right ventricle	2	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.		83
HP:0001627	HP:0004383	Hypoplastic left heart	2	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.		83
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	WDPCP CL E G H	51057	28027	OMIM:217085	Congenital heart defects, hamartomas of tongue, and polysyndactyly			60
HP:0001627	HP:0006695	Atrioventricular canal defect	2	WDPCP CL E G H	51057	28027	OMIM:217085	Congenital heart defects, hamartomas of tongue, and polysyndactyly			60
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	WDPCP CL E G H	51057	28027	ORPHA:1338	Heart defect-tongue hamartoma-polysyndactyly syndrome			60
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome			8
HP:0001627	HP:0001631	Atrial septal defect	2	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0001627	HP:0001714	Ventricular hypertrophy	2	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2			136
HP:0001627	HP:0001631	Atrial septal defect	2	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0001627	HP:0001638	Cardiomyopathy	2	WFS1 CL E G H	7466	12762	ORPHA:3463	Wolfram syndrome	HP:0040283 - Occasional		389
HP:0001627	HP:0001638	Cardiomyopathy	2	WFS1 CL E G H	7466	12762	OMIM:222300	Wolfram syndrome 1	.		389
HP:0001627	HP:0001631	Atrial septal defect	2	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs			4
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome			4
HP:0001627	HP:0001631	Atrial septal defect	2	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001627	HP:0001631	Atrial septal defect	2	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040283 - Occasional		177
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001627	HP:0001651	Dextrocardia	2	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome			177
HP:0001627	HP:0001651	Dextrocardia	2	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001627	HP:0001696	Situs inversus totalis	2	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040283 - Occasional		177
HP:0001627	HP:0004383	Hypoplastic left heart	2	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040282 - Frequent		177
HP:0001627	HP:0004383	Hypoplastic left heart	2	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome			177
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome			177
HP:0001627	HP:0011565	Common atrium	2	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome			177
HP:0001627	HP:0001638	Cardiomyopathy	2	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome	.		8
HP:0001627	HP:0001631	Atrial septal defect	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		125
HP:0001627	HP:0001638	Cardiomyopathy	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		125
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0001627	HP:0001638	Cardiomyopathy	2	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome			14
HP:0001627	HP:0001638	Cardiomyopathy	2	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			14
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			14
HP:0001627	HP:0001638	Cardiomyopathy	2	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			5
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			5
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome			5
HP:0001627	HP:0001631	Atrial septal defect	2	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome	.		5
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001627	HP:0001638	Cardiomyopathy	2	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2			45
HP:0001627	HP:0001631	Atrial septal defect	2	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0001627	HP:0001631	Atrial septal defect	2	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	YY1AP1 CL E G H	55249	30935	OMIM:602531	Grange syndrome			5
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	YY1AP1 CL E G H	55249	30935	ORPHA:79094	Grange syndrome			5
HP:0001627	HP:0001631	Atrial septal defect	2	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0001627	HP:0001631	Atrial septal defect	2	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent		10
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome			10
HP:0001627	HP:0001631	Atrial septal defect	2	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.		362
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome			362
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional		362
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional		362
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot			31
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	ZFPM2 CL E G H	23414	16700	OMIM:187500	Tetralogy of Fallot			31
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly			34
HP:0001627	HP:0001631	Atrial septal defect	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked	.		39
HP:0001627	HP:0001651	Dextrocardia	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked	.		39
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0001719	Double outlet right ventricle	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0001750	Single ventricle	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0004383	Hypoplastic left heart	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0006695	Atrioventricular canal defect	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0011546	Abnormal atrioventricular connection	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0011565	Common atrium	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked	.		39
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0001651	Dextrocardia	2	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked			39
HP:0001627	HP:0006695	Atrioventricular canal defect	2	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked	.		39
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked			39
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent		83
HP:0001627	HP:0001714	Ventricular hypertrophy	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		83
HP:0001627	HP:0005146	Cardiac valve calcification	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome			83
HP:0001627	HP:0001631	Atrial septal defect	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		83
HP:0001627	HP:0001651	Dextrocardia	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		83
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy			83
HP:0001627	HP:0001631	Atrial septal defect	2	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.		83
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal			83
HP:0001627	HP:0001631	Atrial septal defect	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0001627	HP:0001651	Dextrocardia	2	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22			20
HP:0001627	HP:0001696	Situs inversus totalis	2	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22	.		20
HP:0001627	HP:0001651	Dextrocardia	2	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0001627	HP:0001696	Situs inversus totalis	2	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		20
HP:0001627	HP:0001719	Double outlet right ventricle	2	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		20
HP:0001627	HP:0011535	Abnormal atrial arrangement	2	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		20
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0001627	HP:0001651	Dextrocardia	2	ZNF423 CL E G H	23090	16762	OMIM:614844	Nephronophthisis 14			49
HP:0001627	HP:0001696	Situs inversus totalis	2	ZNF423 CL E G H	23090	16762	OMIM:614844	Nephronophthisis 14	HP:0040283 - Occasional		49
HP:0001627	HP:0001646	Abnormal aortic valve morphology	2	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0001627	HP:0001714	Ventricular hypertrophy	2	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0001627	HP:0011563	Abnormal ventriculoarterial connection	2	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome			397
HP:0001627	HP:0006705	Abnormal atrioventricular valve morphology	2	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome			397
HP:0001627	HP:0001711	Abnormal left ventricle morphology	2	ZNF687 CL E G H	57592	29277	OMIM:616833	Paget disease of bone 6			2
HP:0001627	HP:0001714	Ventricular hypertrophy	2	ZNF687 CL E G H	57592	29277	OMIM:616833	Paget disease of bone 6			2
HP:0001627	HP:0001631	Atrial septal defect	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001627	HP:0001641	Abnormal pulmonary valve morphology	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001627	HP:0010438	Abnormal ventricular septum morphology	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001627	HP:0011994	Abnormal atrial septum morphology	2	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001627	HP:0006694	Early progressive calcific cardiac valvular disease	3	CL E G H
HP:0001627	HP:0011542	Criss-cross atrioventricular valves with superior-inferior ventricles	3	CL E G H
HP:0001627	HP:0011547	Absent left sided atrioventricular connection	3	CL E G H
HP:0001627	HP:0011548	Absent right sided atrioventricular connection	3	CL E G H
HP:0001627	HP:0011552	Ambiguous atrioventricular connection	3	CL E G H
HP:0001627	HP:0011557	Double inlet to single ventricle of indeterminate morphology	3	CL E G H
HP:0001627	HP:0011561	Overriding atrioventricular valve	3	CL E G H
HP:0001627	HP:0011562	Straddling atrioventricular valve	3	CL E G H
HP:0001627	HP:0011566	Cor triatriatum dexter	3	CL E G H
HP:0001627	HP:0011567	Sinus venosus atrial septal defect	3	CL E G H
HP:0001627	HP:0011576	Intermediate atrioventricular canal defect	3	CL E G H
HP:0001627	HP:0011578	Transitional atrioventricular canal defect	3	CL E G H
HP:0001627	HP:0011582	Abdominal ectopia cordis	3	CL E G H
HP:0001627	HP:0011583	Cervical ectopia cordis	3	CL E G H
HP:0001627	HP:0011584	Thoracocervical ectopia cordis	3	CL E G H
HP:0001627	HP:0011585	Thoracic ectopia cordis	3	CL E G H
HP:0001627	HP:0011586	Thoracoabdominal ectopia cordis	3	CL E G H
HP:0001627	HP:0011601	Rightward direction of ventricular apex	3	CL E G H
HP:0001627	HP:0011602	Midline direction of ventricular apex	3	CL E G H
HP:0001627	HP:0011630	Complete diaphragmatic absence of pericardium	3	CL E G H
HP:0001627	HP:0011631	Complete right sided absence of pericardium	3	CL E G H
HP:0001627	HP:0011632	Partial right sided absence of pericardium	3	CL E G H
HP:0001627	HP:0011633	Complete left sided absence of pericardium	3	CL E G H
HP:0001627	HP:0011634	Partial left sided absence of pericardium	3	CL E G H
HP:0001627	HP:0011635	Partial diaphragmatic absence of pericardium	3	CL E G H
HP:0001627	HP:0011643	Coronary sinus atrial septal defect	3	CL E G H
HP:0001627	HP:0011644	Coronary sinus diverticulum	3	CL E G H
HP:0001627	HP:0011652	Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis	3	CL E G H
HP:0001627	HP:0011653	Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis	3	CL E G H
HP:0001627	HP:0011654	Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis	3	CL E G H
HP:0001627	HP:0011655	Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis	3	CL E G H
HP:0001627	HP:0011656	Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis	3	CL E G H
HP:0001627	HP:0011657	Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis	3	CL E G H
HP:0001627	HP:0011680	Single ventricle of indeterminate morphology	3	CL E G H
HP:0001627	HP:0011714	Libman-Sacks lesions	3	CL E G H
HP:0001627	HP:0011851	Hemopericardium	3	CL E G H
HP:0001627	HP:0011853	Serous pericardial effusion	3	CL E G H
HP:0001627	HP:0025445	Morphological abnormality of the papillary muscles	3	CL E G H
HP:0001627	HP:0025578	Aortic valve prolapse	3	CL E G H
HP:0001627	HP:0030740	Anomalous muscle bundle of the right ventricle	3	CL E G H
HP:0001627	HP:0030957	Ventricular septal aneurysm	3	CL E G H
HP:0001627	HP:0031017	Swiss cheese atrial septal defect	3	CL E G H
HP:0001627	HP:0031294	Hypoplastic right atrium	3	CL E G H
HP:0001627	HP:0031297	Unroofed coronary sinus	3	CL E G H
HP:0001627	HP:0031322	Myocardial lymphocytic infiltration	3	CL E G H
HP:0001627	HP:0031323	Myocardial eosinophilic infiltration	3	CL E G H
HP:0001627	HP:0031324	Myocardial multinucleated giant cells	3	CL E G H
HP:0001627	HP:0031325	Myocardial granulomatous infiltrates	3	CL E G H
HP:0001627	HP:0031326	Monoclonal light chain cardiac amyloidosis	3	CL E G H
HP:0001627	HP:0031327	Transthyretin cardiac amyloidosis	3	CL E G H
HP:0001627	HP:0031328	Perivascular cardiac fibrosis	3	CL E G H
HP:0001627	HP:0031330	Perivascular myocardial immune cell infiltration	3	CL E G H
HP:0001627	HP:0031336	Intranuclear cardiomyocyte mitochondria	3	CL E G H
HP:0001627	HP:0031783	Absent coronary sinus	3	CL E G H
HP:0001627	HP:0033138	Right atrial thrombus	3	CL E G H
HP:0001627	HP:0100572	Fibrous cardiac diverticulum	3	CL E G H
HP:0001627	HP:0100573	Muscular cardiac diverticulum	3	CL E G H
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	AARS2 CL E G H	57505	21022	OMIM:614096	Combined oxidative phosphorylation deficiency 8	.		143
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	ABCA1 CL E G H	19	29	OMIM:205400	Tangier disease	.		191
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	ABCA1 CL E G H	19	29	ORPHA:31150	Tangier disease	HP:0040283 - Occasional		191
HP:0001627	HP:0030718	Right atrial enlargement	3	ABCC6 CL E G H	368	57	OMIM:614473	Arterial calcification, generalized, of infancy, 2			415
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum			415
HP:0001627	HP:0001723	Restrictive cardiomyopathy	3	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional		415
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste			415
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			415
HP:0001627	HP:0001723	Restrictive cardiomyopathy	3	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			415
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ABCC8 CL E G H	6833	59	ORPHA:276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	HP:0040283 - Occasional		245
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ABCC9 CL E G H	10060	60	OMIM:608569	CARDIOMYOPATHY, DILATED, 1O; CMD1O			254
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ABCC9 CL E G H	10060	60	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		254
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia			254
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ABCC9 CL E G H	10060	60	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040283 - Occasional		254
HP:0001627	HP:0001631	Atrial septal defect	3	ABCD4 CL E G H	5826	68	OMIM:614857	Methylmalonic aciduria and homocystinuria, Cblj type	HP:0040283 - Occasional		53
HP:0001627	HP:0001629	Ventricular septal defect	3	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.		51
HP:0001627	HP:0001631	Atrial septal defect	3	ABL1 CL E G H	25	76	OMIM:617602	Congenital heart defects and skeletal malformations syndrome	.		51
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ACAD8 CL E G H	27034	87	ORPHA:79159	Isobutyryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		58
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ACAD8 CL E G H	27034	87	OMIM:611283	Isobutyryl-CoA dehydrogenase deficiency	.		58
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040282 - Frequent		98
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ACAD9 CL E G H	28976	21497	ORPHA:99901	Acyl-CoA dehydrogenase 9 deficiency	HP:0040282 - Frequent		98
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency	.		98
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ACAD9 CL E G H	28976	21497	OMIM:611126	Mitochondrial complex I deficiency due to acad9 deficiency	.		98
HP:0001627	HP:0001629	Ventricular septal defect	3	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		200
HP:0001627	HP:0001631	Atrial septal defect	3	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		200
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare		200
HP:0001627	HP:0001655	Patent foramen ovale	3	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		200
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ACADVL CL E G H	37	92	OMIM:201475	Very long-chain acyl-CoA dehydrogenase deficiency			200
HP:0001627	HP:0001648	Cor pulmonale	3	ACTA1 CL E G H	58	129	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		96
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ACTA1 CL E G H	58	129	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		96
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ACTA1 CL E G H	58	129	OMIM:161800	Nemaline myopathy 3	HP:0040283 - Occasional		96
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			94
HP:0001627	HP:0001631	Atrial septal defect	3	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome			94
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1			72
HP:0001627	HP:0001631	Atrial septal defect	3	ACTC1 CL E G H	70	143	OMIM:612794	Atrial septal defect 5	.		208
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		208
HP:0001627	HP:0005133	Right ventricular dilatation	3	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		208
HP:0001627	HP:0030718	Right atrial enlargement	3	ACTC1 CL E G H	70	143	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		208
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R	.		208
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R	HP:0040283 - Occasional		208
HP:0001627	HP:0001723	Restrictive cardiomyopathy	3	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R	HP:0040283 - Occasional		208
HP:0001627	HP:0031192	Abnormal morphology of left ventricular trabeculae	3	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R			208
HP:0001627	HP:0031329	Interstitial cardiac fibrosis	3	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R			208
HP:0001627	HP:0001631	Atrial septal defect	3	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11			208
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11	.		208
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11			208
HP:0001627	HP:0011103	Abnormal left ventricular outflow tract morphology	3	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11			208
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ACTC1 CL E G H	70	143	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		208
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction			307
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction			307
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction	HP:0040283 - Occasional		307
HP:0001627	HP:0031192	Abnormal morphology of left ventricular trabeculae	3	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction			307
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ACTN2 CL E G H	88	164	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		307
HP:0001627	HP:0001629	Ventricular septal defect	3	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal	.		161
HP:0001627	HP:0001669	Transposition of the great arteries	3	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal			161
HP:0001627	HP:0001674	Complete atrioventricular canal defect	3	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal			161
HP:0001627	HP:0001629	Ventricular septal defect	3	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		22
HP:0001627	HP:0001631	Atrial septal defect	3	ADA2 CL E G H	51816	1839	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		22
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome			22
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ADA2 CL E G H	51816	1839	OMIM:615688	Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome			22
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	ADAM17 CL E G H	6868	195	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040283 - Occasional		2
HP:0001627	HP:0001629	Ventricular septal defect	3	ADAMTS10 CL E G H	81794	13201	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional		63
HP:0001627	HP:0001629	Ventricular septal defect	3	ADAMTS10 CL E G H	81794	13201	OMIM:277600	Weill-Marchesani syndrome 1	.		63
HP:0001627	HP:0005176	Dysplastic aortic valve	3	ADAMTS19 CL E G H	171019	17111	OMIM:620067				1
HP:0001627	HP:0011103	Abnormal left ventricular outflow tract morphology	3	ADAMTS19 CL E G H	171019	17111	OMIM:620067				1
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	ADAMTS19 CL E G H	171019	17111	OMIM:620067				1
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare		116
HP:0001627	HP:0001631	Atrial septal defect	3	ADAT3 CL E G H	113179	25151	ORPHA:363528	Intellectual disability-strabismus syndrome	HP:0040283 - Occasional		9
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ADCY5 CL E G H	111	236	OMIM:606703	Dyskinesia, familial, with facial myokymia	HP:0040283 - Occasional		25
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ADCY5 CL E G H	111	236	ORPHA:324588	Familial dyskinesia and facial myokymia	HP:0040283 - Occasional		25
HP:0001627	HP:0001631	Atrial septal defect	3	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency	HP:0040283 - Occasional		26
HP:0001627	HP:0001684	Secundum atrial septal defect	3	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0001627	HP:0011665	Takotsubo cardiomyopathy	3	ADORA2A CL E G H	135	263	ORPHA:363549	Acute encephalopathy with biphasic seizures and late reduced diffusion	HP:0040284 - Very rare		1
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0001627	HP:0001629	Ventricular septal defect	3	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0001627	HP:0001631	Atrial septal defect	3	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0001627	HP:0001655	Patent foramen ovale	3	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0001627	HP:0001629	Ventricular septal defect	3	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:0001627	HP:0001631	Atrial septal defect	3	AFF4 CL E G H	27125	17869	ORPHA:444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome			6
HP:0001627	HP:0001655	Patent foramen ovale	3	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:0001627	HP:0001631	Atrial septal defect	3	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	AGGF1 CL E G H	55109	24684	ORPHA:90308	Klippel-Trénaunay syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	AGK CL E G H	55750	21869	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	HP:0040281 - Very frequent		82
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	AGK CL E G H	55750	21869	OMIM:212350	Sengers syndrome	.		82
HP:0001627	HP:0001631	Atrial septal defect	3	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0001627	HP:0001655	Patent foramen ovale	3	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	AGPAT2 CL E G H	10555	325	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		85
HP:0001627	HP:0001696	Situs inversus totalis	3	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		175
HP:0001627	HP:0001631	Atrial septal defect	3	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3			175
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	AIP CL E G H	9049	358	ORPHA:963	Acromegaly	HP:0040283 - Occasional		95
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	AIP CL E G H	9049	358	OMIM:102200	Pituitary adenoma, growth hormone-secreting, 1	.		95
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent		95
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	AIP CL E G H	9049	358	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent		95
HP:0001627	HP:0001629	Ventricular septal defect	3	AKT3 CL E G H	10000	393	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040282 - Frequent		19
HP:0001627	HP:0001629	Ventricular septal defect	3	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0001627	HP:0001629	Ventricular septal defect	3	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0001627	HP:0001631	Atrial septal defect	3	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG			68
HP:0001627	HP:0001655	Patent foramen ovale	3	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040284 - Very rare		68
HP:0001627	HP:0200128	Biventricular hypertrophy	3	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040284 - Very rare		68
HP:0001627	HP:0001631	Atrial septal defect	3	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig			68
HP:0001627	HP:0001655	Patent foramen ovale	3	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.		68
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0001627	HP:0001629	Ventricular septal defect	3	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0001627	HP:0001629	Ventricular septal defect	3	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0001627	HP:0001631	Atrial septal defect	3	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0001627	HP:0005133	Right ventricular dilatation	3	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0001627	HP:0011103	Abnormal left ventricular outflow tract morphology	3	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040283 - Occasional		93
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease			93
HP:0001627	HP:0001629	Ventricular septal defect	3	ALKBH8 CL E G H	91801	25189	OMIM:618504	Intellectual developmental disorder, autosomal recessive 71	HP:0040284 - Very rare
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ALMS1 CL E G H	7840	428	ORPHA:64	Alström syndrome	HP:0040282 - Frequent		404
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ALMS1 CL E G H	7840	428	OMIM:203800	Alstrom syndrome	.	HP:0003593 - Infantile onset	404
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27			89
HP:0001627	HP:0001667	Right ventricular hypertrophy	3	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27			89
HP:0001627	HP:0005144	Ventricular septal hypertrophy	3	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27			89
HP:0001627	HP:0001710	Conotruncal defect	3	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome			5
HP:0001627	HP:0001710	Conotruncal defect	3	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1			9
HP:0001627	HP:0001629	Ventricular septal defect	3	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0001627	HP:0001631	Atrial septal defect	3	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0001627	HP:0001631	Atrial septal defect	3	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0001627	HP:0001655	Patent foramen ovale	3	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0001627	HP:0001631	Atrial septal defect	3	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0001627	HP:0001655	Patent foramen ovale	3	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0001627	HP:0001631	Atrial septal defect	3	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040283 - Occasional		150
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome			150
HP:0001627	HP:0001723	Restrictive cardiomyopathy	3	ANK1 CL E G H	286	492	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		150
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ANKRD1 CL E G H	27063	15819	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		95
HP:0001627	HP:0001629	Ventricular septal defect	3	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional		102
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040283 - Occasional		102
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16	HP:0040283 - Occasional		32
HP:0001627	HP:0001696	Situs inversus totalis	3	ANKS6 CL E G H	203286	26724	OMIM:615382	Nephronophthisis 16	HP:0040283 - Occasional		32
HP:0001627	HP:0001629	Ventricular septal defect	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001631	Atrial septal defect	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001629	Ventricular septal defect	3	ARCN1 CL E G H	372	649	OMIM:617164	Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay	.		3
HP:0001627	HP:0001710	Conotruncal defect	3	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0001627	HP:0001629	Ventricular septal defect	3	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.		147
HP:0001627	HP:0001631	Atrial septal defect	3	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.		147
HP:0001627	HP:0001710	Conotruncal defect	3	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0001627	HP:0001629	Ventricular septal defect	3	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		88
HP:0001627	HP:0001631	Atrial septal defect	3	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		88
HP:0001627	HP:0001710	Conotruncal defect	3	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome			88
HP:0001627	HP:0001629	Ventricular septal defect	3	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		219
HP:0001627	HP:0001631	Atrial septal defect	3	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		219
HP:0001627	HP:0001710	Conotruncal defect	3	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome			219
HP:0001627	HP:0001629	Ventricular septal defect	3	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0001627	HP:0001631	Atrial septal defect	3	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0001627	HP:0001710	Conotruncal defect	3	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1			219
HP:0001627	HP:0001629	Ventricular septal defect	3	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		25
HP:0001627	HP:0001631	Atrial septal defect	3	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		25
HP:0001627	HP:0001710	Conotruncal defect	3	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome			25
HP:0001627	HP:0001631	Atrial septal defect	3	ARID2 CL E G H	196528	18037	OMIM:617808	Coffin-siris syndrome 6			25
HP:0001627	HP:0001696	Situs inversus totalis	3	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		62
HP:0001627	HP:0001696	Situs inversus totalis	3	ARL2BP CL E G H	23568	17146	OMIM:615434	Retinitis pigmentosa with or without situs inversus	HP:0040283 - Occasional		3
HP:0001627	HP:0001696	Situs inversus totalis	3	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	ARL6 CL E G H	84100	13210	OMIM:209900	Bardet-Biedl syndrome 1	.		29
HP:0001627	HP:0001696	Situs inversus totalis	3	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0001627	HP:0001629	Ventricular septal defect	3	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040284 - Very rare
HP:0001627	HP:0001631	Atrial septal defect	3	ARSL CL E G H	415	719	ORPHA:79345	Brachytelephalangic chondrodysplasia punctata	HP:0040284 - Very rare
HP:0001627	HP:0001629	Ventricular septal defect	3	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		1
HP:0001627	HP:0001631	Atrial septal defect	3	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		1
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0001627	HP:0001710	Conotruncal defect	3	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0001627	HP:0001629	Ventricular septal defect	3	ARX CL E G H	170302	18060	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		166
HP:0001627	HP:0001629	Ventricular septal defect	3	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia	HP:0040283 - Occasional		166
HP:0001627	HP:0001631	Atrial septal defect	3	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0001627	HP:0001655	Patent foramen ovale	3	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0001627	HP:0001629	Ventricular septal defect	3	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0001627	HP:0001631	Atrial septal defect	3	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.		145
HP:0001627	HP:0001631	Atrial septal defect	3	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.		7
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ATAD3A CL E G H	55210	25567	OMIM:617183	Harel-Yoon syndrome	HP:0040283 - Occasional		5
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ATAD3A CL E G H	55210	25567	ORPHA:496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome	HP:0040283 - Occasional		5
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ATAD3A CL E G H	55210	25567	OMIM:618810	PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL; PHRINL			5
HP:0001627	HP:0001631	Atrial septal defect	3	ATIC CL E G H	471	794	OMIM:608688	Aicar transformylase/imp cyclohydrolase deficiency	.		4
HP:0001627	HP:0001629	Ventricular septal defect	3	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0001627	HP:0001631	Atrial septal defect	3	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0001627	HP:0001655	Patent foramen ovale	3	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0001627	HP:0001667	Right ventricular hypertrophy	3	ATP13A3 CL E G H	79572	24113	OMIM:265400	Pulmonary hypertension, primary, autosomal recessive	.
HP:0001627	HP:0001631	Atrial septal defect	3	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0001627	HP:0001669	Transposition of the great arteries	3	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0001627	HP:0001684	Secundum atrial septal defect	3	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ATP5F1D CL E G H	513	837	OMIM:618120	Mitochondrial complex V (atp synthase) deficiency, nuclear type 5	.
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ATP5F1E CL E G H	514	838	OMIM:614053	Mitochondrial complex V (atp synthase) deficiency, nuclear type 3	.
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ATP5MK CL E G H	84833	30889	OMIM:618683	MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 6; MC5DN6
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	ATP6AP2 CL E G H	10159	18305	ORPHA:93952	X-linked intellectual disability, Hedera type	HP:0040283 - Occasional		36
HP:0001627	HP:0001629	Ventricular septal defect	3	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0001627	HP:0011995	Atrial septal dilatation	3	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040282 - Frequent		140
HP:0001627	HP:0011995	Atrial septal dilatation	3	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.		140
HP:0001627	HP:0001631	Atrial septal defect	3	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.		3
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID	.		3
HP:0001627	HP:0001710	Conotruncal defect	3	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome			5
HP:0001627	HP:0001631	Atrial septal defect	3	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.		2
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC			2
HP:0001627	HP:0200128	Biventricular hypertrophy	3	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.		2
HP:0001627	HP:0001629	Ventricular septal defect	3	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.		169
HP:0001627	HP:0031566	Abnormal pulmonary valve cusp morphology	3	ATRX CL E G H	546	886	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare		169
HP:0001627	HP:0001631	Atrial septal defect	3	AUTS2 CL E G H	26053	14262	ORPHA:352490	Autism spectrum disorder due to AUTS2 deficiency	HP:0040283 - Occasional		61
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0001627	HP:0001629	Ventricular septal defect	3	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.		38
HP:0001627	HP:0001631	Atrial septal defect	3	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures			38
HP:0001627	HP:0001631	Atrial septal defect	3	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0001627	HP:0001655	Patent foramen ovale	3	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		5
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		5
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0001627	HP:0031566	Abnormal pulmonary valve cusp morphology	3	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0001627	HP:0001629	Ventricular septal defect	3	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0001627	HP:0001631	Atrial septal defect	3	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0001627	HP:0001696	Situs inversus totalis	3	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		28
HP:0001627	HP:0001696	Situs inversus totalis	3	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		28
HP:0001627	HP:0001696	Situs inversus totalis	3	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		34
HP:0001627	HP:0001696	Situs inversus totalis	3	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		34
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	BAG3 CL E G H	9531	939	OMIM:613881	Cardiomyopathy, dilated, 1hh	.		204
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	BAG3 CL E G H	9531	939	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		204
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	BAG3 CL E G H	9531	939	OMIM:612954	Myopathy, myofibrillar, 6	.		204
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	BAG5 CL E G H	9529	941	OMIM:619747	CARDIOMYOPATHY, DILATED, 2F; CMD2F
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	BAG5 CL E G H	9529	941	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent
HP:0001627	HP:0030718	Right atrial enlargement	3	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0001627	HP:0031295	Left atrial enlargement	3	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome			22
HP:0001627	HP:0001629	Ventricular septal defect	3	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS			184
HP:0001627	HP:0001629	Ventricular septal defect	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001631	Atrial septal defect	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	BBS1 CL E G H	582	966	OMIM:209900	Bardet-Biedl syndrome 1	.		114
HP:0001627	HP:0001631	Atrial septal defect	3	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2	HP:0040283 - Occasional		97
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2			97
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2			97
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0001627	HP:0001629	Ventricular septal defect	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001631	Atrial septal defect	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1			101
HP:0001627	HP:0001629	Ventricular septal defect	3	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0001627	HP:0001631	Atrial septal defect	3	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0001627	HP:0001710	Conotruncal defect	3	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome			101
HP:0001627	HP:0001629	Ventricular septal defect	3	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		5
HP:0001627	HP:0001631	Atrial septal defect	3	BCR CL E G H	613	1014	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		5
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	BCS1L CL E G H	617	1020	OMIM:124000	Mitochondrial complex III deficiency, nuclear type 1	.		72
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease			5
HP:0001627	HP:0001631	Atrial septal defect	3	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0001627	HP:0001655	Patent foramen ovale	3	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0001627	HP:0001710	Conotruncal defect	3	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	BIN1 CL E G H	274	1052	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		99
HP:0001627	HP:0001631	Atrial septal defect	3	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome	HP:0040283 - Occasional		13
HP:0001627	HP:0001629	Ventricular septal defect	3	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies			13
HP:0001627	HP:0001669	Transposition of the great arteries	3	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.		13
HP:0001627	HP:0001631	Atrial septal defect	3	BMPR1A CL E G H	657	1076	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional		385
HP:0001627	HP:0001667	Right ventricular hypertrophy	3	BMPR2 CL E G H	659	1078	OMIM:178600	Pulmonary hypertension, primary, 1			525
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	.		14
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia	.		14
HP:0001627	HP:0001631	Atrial septal defect	3	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		276
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional		276
HP:0001627	HP:0001631	Atrial septal defect	3	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3	.		276
HP:0001627	HP:0001710	Conotruncal defect	3	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0001627	HP:0001629	Ventricular septal defect	3	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1	.		276
HP:0001627	HP:0001631	Atrial septal defect	3	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	BRAF CL E G H	673	1097	OMIM:163950	Noonan syndrome 1			276
HP:0001627	HP:0001631	Atrial septal defect	3	BRAF CL E G H	673	1097	OMIM:613706	Noonan syndrome 7			276
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent		276
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent		276
HP:0001627	HP:0001631	Atrial septal defect	3	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		5769
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		5769
HP:0001627	HP:0001710	Conotruncal defect	3	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0001627	HP:0001631	Atrial septal defect	3	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		7642
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		7642
HP:0001627	HP:0001710	Conotruncal defect	3	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	BRCC3 CL E G H	79184	24185	ORPHA:280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	HP:0040282 - Frequent		8
HP:0001627	HP:0001629	Ventricular septal defect	3	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001631	Atrial septal defect	3	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001629	Ventricular septal defect	3	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional		7
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome			7
HP:0001627	HP:0001629	Ventricular septal defect	3	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0001627	HP:0001631	Atrial septal defect	3	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1086
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1086
HP:0001627	HP:0001710	Conotruncal defect	3	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	BSCL2 CL E G H	26580	15832	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		105
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.		105
HP:0001627	HP:0005144	Ventricular septal hypertrophy	3	BSCL2 CL E G H	26580	15832	OMIM:269700	Lipodystrophy, congenital generalized, type 2	.		105
HP:0001627	HP:0001648	Cor pulmonale	3	BTK CL E G H	695	1133	OMIM:300755	Agammaglobulinemia, X-linked	.		109
HP:0001627	HP:0001631	Atrial septal defect	3	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		5
HP:0001627	HP:0011103	Abnormal left ventricular outflow tract morphology	3	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome			5
HP:0001627	HP:0001631	Atrial septal defect	3	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		76
HP:0001627	HP:0011103	Abnormal left ventricular outflow tract morphology	3	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome			76
HP:0001627	HP:0001631	Atrial septal defect	3	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0001627	HP:0001631	Atrial septal defect	3	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0001627	HP:0011103	Abnormal left ventricular outflow tract morphology	3	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0001627	HP:0001629	Ventricular septal defect	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001631	Atrial septal defect	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	C1QBP CL E G H	708	1243	OMIM:617713	Combined oxidative phosphorylation deficiency 33	.
HP:0001627	HP:0001629	Ventricular septal defect	3	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent		27
HP:0001627	HP:0001629	Ventricular septal defect	3	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.		27
HP:0001627	HP:0001631	Atrial septal defect	3	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.		27
HP:0001627	HP:0001629	Ventricular septal defect	3	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome	HP:0040283 - Occasional		572
HP:0001627	HP:0001631	Atrial septal defect	3	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome			572
HP:0001627	HP:0001655	Patent foramen ovale	3	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome	HP:0040283 - Occasional		572
HP:0001627	HP:0001710	Conotruncal defect	3	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome			572
HP:0001627	HP:0001629	Ventricular septal defect	3	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	HP:0040283 - Occasional		51
HP:0001627	HP:0001631	Atrial septal defect	3	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities			51
HP:0001627	HP:0001655	Patent foramen ovale	3	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	HP:0040283 - Occasional		51
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	.		51
HP:0001627	HP:0200128	Biventricular hypertrophy	3	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	HP:0040283 - Occasional		51
HP:0001627	HP:0001629	Ventricular septal defect	3	CACNA1D CL E G H	776	1391	ORPHA:369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	HP:0040283 - Occasional		51
HP:0001627	HP:0031192	Abnormal morphology of left ventricular trabeculae	3	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15			13
HP:0001627	HP:0001629	Ventricular septal defect	3	CALM3 CL E G H	808	1449	OMIM:618782	LONG QT SYNDROME 16; LQT16			16
HP:0001627	HP:0001629	Ventricular septal defect	3	CAMK2A CL E G H	815	1460	OMIM:617798	Mental retardation, autosomal dominant 53			1
HP:0001627	HP:0001629	Ventricular septal defect	3	CANT1 CL E G H	124583	19721	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent		85
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	CAP2 CL E G H	10486	20039	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0001627	HP:0001631	Atrial septal defect	3	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0001627	HP:0001629	Ventricular septal defect	3	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001627	HP:0001629	Ventricular septal defect	3	CASK CL E G H	8573	1497	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		118
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	CASQ2 CL E G H	845	1513	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1			129
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0001627	HP:0001710	Conotruncal defect	3	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome			3
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	CAV1 CL E G H	857	1527	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		11
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	CAV3 CL E G H	859	1529	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			148
HP:0001627	HP:0011103	Abnormal left ventricular outflow tract morphology	3	CAV3 CL E G H	859	1529	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			148
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	CAVIN1 CL E G H	284119	9688	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		48
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia			317
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency			242
HP:0001627	HP:0001696	Situs inversus totalis	3	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001696	Situs inversus totalis	3	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		247
HP:0001627	HP:0001629	Ventricular septal defect	3	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.		147
HP:0001627	HP:0001631	Atrial septal defect	3	CCBE1 CL E G H	147372	29426	OMIM:235510	Hennekam lymphangiectasia-lymphedema syndrome	.		147
HP:0001627	HP:0001696	Situs inversus totalis	3	CCDC103 CL E G H	388389	32700	OMIM:614679	Ciliary dyskinesia, primary, 17	HP:0040283 - Occasional		36
HP:0001627	HP:0001669	Transposition of the great arteries	3	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		36
HP:0001627	HP:0001696	Situs inversus totalis	3	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		36
HP:0001627	HP:0001710	Conotruncal defect	3	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0001627	HP:0011539	Atrial situs ambiguous	3	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		36
HP:0001627	HP:0001629	Ventricular septal defect	3	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation			1
HP:0001627	HP:0001629	Ventricular septal defect	3	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent		33
HP:0001627	HP:0001631	Atrial septal defect	3	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent		33
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent		33
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent		33
HP:0001627	HP:0001710	Conotruncal defect	3	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0001627	HP:0001629	Ventricular septal defect	3	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.		33
HP:0001627	HP:0001631	Atrial septal defect	3	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.		33
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	CCDC28B CL E G H	79140	28163	OMIM:209900	Bardet-Biedl syndrome 1	.		4
HP:0001627	HP:0001629	Ventricular septal defect	3	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS			1
HP:0001627	HP:0001696	Situs inversus totalis	3	CCDC39 CL E G H	339829	25244	OMIM:613807	Ciliary dyskinesia, primary, 14			126
HP:0001627	HP:0001669	Transposition of the great arteries	3	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		126
HP:0001627	HP:0001696	Situs inversus totalis	3	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		126
HP:0001627	HP:0001710	Conotruncal defect	3	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0001627	HP:0011539	Atrial situs ambiguous	3	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		126
HP:0001627	HP:0001696	Situs inversus totalis	3	CCDC40 CL E G H	55036	26090	OMIM:613808	CILIARY DYSKINESIA, PRIMARY, 15; CILD15			182
HP:0001627	HP:0001669	Transposition of the great arteries	3	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		182
HP:0001627	HP:0001696	Situs inversus totalis	3	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		182
HP:0001627	HP:0001710	Conotruncal defect	3	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0001627	HP:0011539	Atrial situs ambiguous	3	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		182
HP:0001627	HP:0001669	Transposition of the great arteries	3	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		23
HP:0001627	HP:0001696	Situs inversus totalis	3	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		23
HP:0001627	HP:0001710	Conotruncal defect	3	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0001627	HP:0011539	Atrial situs ambiguous	3	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		23
HP:0001627	HP:0001629	Ventricular septal defect	3	CCND2 CL E G H	894	1583	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040282 - Frequent		11
HP:0001627	HP:0001669	Transposition of the great arteries	3	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		23
HP:0001627	HP:0001696	Situs inversus totalis	3	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		23
HP:0001627	HP:0001710	Conotruncal defect	3	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0001627	HP:0011539	Atrial situs ambiguous	3	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		23
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome			7
HP:0001627	HP:0011560	Mitral atresia	3	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040283 - Occasional		7
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations			7
HP:0001627	HP:0001629	Ventricular septal defect	3	CD96 CL E G H	10225	16892	OMIM:211750	C syndrome	.		83
HP:0001627	HP:0001631	Atrial septal defect	3	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001627	HP:0001655	Patent foramen ovale	3	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001627	HP:0001629	Ventricular septal defect	3	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.		9
HP:0001627	HP:0001631	Atrial septal defect	3	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.		9
HP:0001627	HP:0001674	Complete atrioventricular canal defect	3	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.		9
HP:0001627	HP:0005133	Right ventricular dilatation	3	CDH2 CL E G H	1000	1759	OMIM:618920	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 14; ARVD14
HP:0001627	HP:0001631	Atrial septal defect	3	CDK10 CL E G H	8558	1770	OMIM:617694	Al Kaissi syndrome	HP:0040284 - Very rare		2
HP:0001627	HP:0001629	Ventricular septal defect	3	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.		8
HP:0001627	HP:0001631	Atrial septal defect	3	CDK13 CL E G H	8621	1733	OMIM:617360	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder	.		8
HP:0001627	HP:0001629	Ventricular septal defect	3	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0001627	HP:0001631	Atrial septal defect	3	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0001627	HP:0001655	Patent foramen ovale	3	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0001627	HP:0001710	Conotruncal defect	3	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0001627	HP:0001629	Ventricular septal defect	3	CDKL5 CL E G H	6792	11411	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		405
HP:0001627	HP:0001710	Conotruncal defect	3	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly			200
HP:0001627	HP:0001723	Restrictive cardiomyopathy	3	CENPE CL E G H	1062	1856	OMIM:616051	Microcephaly 13, primary, autosomal recessive			20
HP:0001627	HP:0001696	Situs inversus totalis	3	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		5
HP:0001627	HP:0001696	Situs inversus totalis	3	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		7
HP:0001627	HP:0001696	Situs inversus totalis	3	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		342
HP:0001627	HP:0001629	Ventricular septal defect	3	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4			342
HP:0001627	HP:0001631	Atrial septal defect	3	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4			342
HP:0001627	HP:0001696	Situs inversus totalis	3	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		90
HP:0001627	HP:0001631	Atrial septal defect	3	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		17
HP:0001627	HP:0011103	Abnormal left ventricular outflow tract morphology	3	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome			17
HP:0001627	HP:0001629	Ventricular septal defect	3	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0001627	HP:0001631	Atrial septal defect	3	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0001627	HP:0011103	Abnormal left ventricular outflow tract morphology	3	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0001627	HP:0001669	Transposition of the great arteries	3	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001696	Situs inversus totalis	3	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011539	Atrial situs ambiguous	3	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001696	Situs inversus totalis	3	CFAP298 CL E G H	56683	1301	OMIM:615500	Ciliary dyskinesia, primary, 26
HP:0001627	HP:0001669	Transposition of the great arteries	3	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001696	Situs inversus totalis	3	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011539	Atrial situs ambiguous	3	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001696	Situs inversus totalis	3	CFAP300 CL E G H	85016	28188	OMIM:618063	Ciliary dyskinesia, primary, 38	.
HP:0001627	HP:0001669	Transposition of the great arteries	3	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001696	Situs inversus totalis	3	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011539	Atrial situs ambiguous	3	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001631	Atrial septal defect	3	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0001627	HP:0001696	Situs inversus totalis	3	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0001627	HP:0010445	Primum atrial septal defect	3	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0001627	HP:0011577	Partial atrioventricular canal defect	3	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0001627	HP:0001696	Situs inversus totalis	3	CFAP52 CL E G H	146845	16053	OMIM:619607	HETEROTAXY, VISCERAL, 10, AUTOSOMAL, WITH MALE INFERTILITY; HTX10
HP:0001627	HP:0001669	Transposition of the great arteries	3	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal	.		17
HP:0001627	HP:0001696	Situs inversus totalis	3	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal			17
HP:0001627	HP:0001710	Conotruncal defect	3	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal			17
HP:0001627	HP:0011579	Unbalanced atrioventricular canal defect	3	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal			17
HP:0001627	HP:0001669	Transposition of the great arteries	3	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal	.		13
HP:0001627	HP:0001696	Situs inversus totalis	3	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal	.		13
HP:0001627	HP:0001710	Conotruncal defect	3	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal			13
HP:0001627	HP:0011537	Left atrial isomerism	3	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal	.		13
HP:0001627	HP:0001648	Cor pulmonale	3	CFTR CL E G H	1080	1884	OMIM:219700	Cystic fibrosis			1371
HP:0001627	HP:0001629	Ventricular septal defect	3	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0001627	HP:0001631	Atrial septal defect	3	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0001627	HP:0001710	Conotruncal defect	3	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome			14
HP:0001627	HP:0001629	Ventricular septal defect	3	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.		515
HP:0001627	HP:0001631	Atrial septal defect	3	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.		515
HP:0001627	HP:0001684	Secundum atrial septal defect	3	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0001627	HP:0001710	Conotruncal defect	3	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome			515
HP:0001627	HP:0001710	Conotruncal defect	3	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	CHKB CL E G H	1120	1938	OMIM:602541	Muscular dystrophy, congenital, Megaconial type			53
HP:0001627	HP:0001629	Ventricular septal defect	3	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0001627	HP:0001631	Atrial septal defect	3	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0001627	HP:0001655	Patent foramen ovale	3	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0001627	HP:0001629	Ventricular septal defect	3	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040283 - Occasional		4
HP:0001627	HP:0001631	Atrial septal defect	3	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040283 - Occasional		4
HP:0001627	HP:0001710	Conotruncal defect	3	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome			4
HP:0001627	HP:0001631	Atrial septal defect	3	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.		27
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0001627	HP:0001631	Atrial septal defect	3	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0001627	HP:0001655	Patent foramen ovale	3	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		165
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		165
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0001627	HP:0001629	Ventricular septal defect	3	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.		165
HP:0001627	HP:0001710	Conotruncal defect	3	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome			3
HP:0001627	HP:0001629	Ventricular septal defect	3	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0001631	Atrial septal defect	3	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0001655	Patent foramen ovale	3	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0001669	Transposition of the great arteries	3	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0001674	Complete atrioventricular canal defect	3	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0001696	Situs inversus totalis	3	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0001710	Conotruncal defect	3	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0011553	Discordant atrioventricular connection	3	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0011554	Double inlet atrioventricular connection	3	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0011556	Double inlet right ventricle	3	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0001631	Atrial septal defect	3	CITED2 CL E G H	10370	1987	OMIM:614433	ATRIAL SEPTAL DEFECT 8; ASD8			5
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		5
HP:0001627	HP:0005133	Right ventricular dilatation	3	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		5
HP:0001627	HP:0030718	Right atrial enlargement	3	CITED2 CL E G H	10370	1987	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		5
HP:0001627	HP:0005133	Right ventricular dilatation	3	CITED2 CL E G H	10370	1987	ORPHA:99105	Atrial septal defect, sinus venosus type	HP:0040283 - Occasional		5
HP:0001627	HP:0001710	Conotruncal defect	3	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot			5
HP:0001627	HP:0001629	Ventricular septal defect	3	CITED2 CL E G H	10370	1987	OMIM:614431	Ventricular septal defect 2			5
HP:0001627	HP:0001629	Ventricular septal defect	3	CKAP2L CL E G H	150468	26877	ORPHA:3255	Filippi syndrome	HP:0040283 - Occasional		7
HP:0001627	HP:0001629	Ventricular septal defect	3	CKAP2L CL E G H	150468	26877	OMIM:272440	Filippi syndrome	.		7
HP:0001627	HP:0001631	Atrial septal defect	3	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome			4
HP:0001627	HP:0001629	Ventricular septal defect	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001631	Atrial septal defect	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3			216
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	CLN3 CL E G H	1201	2074	ORPHA:228346	CLN3 disease			216
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	COA5 CL E G H	493753	33848	OMIM:616500	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3	.		2
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4			8
HP:0001627	HP:0031192	Abnormal morphology of left ventricular trabeculae	3	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4			8
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0001627	HP:0011995	Atrial septal dilatation	3	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040282 - Frequent		52
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg			52
HP:0001627	HP:0001629	Ventricular septal defect	3	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0001627	HP:0001631	Atrial septal defect	3	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0001627	HP:0001631	Atrial septal defect	3	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1			215
HP:0001627	HP:0001655	Patent foramen ovale	3	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.		215
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome			373
HP:0001627	HP:0001631	Atrial septal defect	3	COL1A1 CL E G H	1277	2197	OMIM:619115	COMBINED OSTEOGENESIS IMPERFECTA AND EHLERS-DANLOS SYNDROME 1; OIEDS1			373
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I			373
HP:0001627	HP:0001631	Atrial septal defect	3	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional		243
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome			243
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional		243
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form			243
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1			284
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I			284
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome			749
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome			660
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I			660
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome			325
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	COL7A1 CL E G H	1294	2214	ORPHA:89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	HP:0040283 - Occasional		263
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	COL7A1 CL E G H	1294	2214	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		263
HP:0001627	HP:0001667	Right ventricular hypertrophy	3	COLQ CL E G H	8292	2226	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040284 - Very rare		90
HP:0001627	HP:0001629	Ventricular septal defect	3	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		6
HP:0001627	HP:0001631	Atrial septal defect	3	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		6
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0001627	HP:0001710	Conotruncal defect	3	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	COQ2 CL E G H	27235	25223	OMIM:607426	Coenzyme Q10 deficiency, primary, 1	.		54
HP:0001627	HP:0001629	Ventricular septal defect	3	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7			24
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	COQ4 CL E G H	51117	19693	OMIM:616276	Coenzyme Q10 deficiency, primary, 7	HP:0040283 - Occasional		24
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	COQ7 CL E G H	10229	2244	OMIM:616733	Coenzyme Q10 deficiency, primary, 8	.		1
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5	.		44
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	COX1 CL E G H	4512	7419	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10			4
HP:0001627	HP:0001629	Ventricular septal defect	3	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		104
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		104
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	COX2 CL E G H	4513	7421	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	COX3 CL E G H	4514	7422	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0001627	HP:0001631	Atrial septal defect	3	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040283 - Occasional		6
HP:0001627	HP:0001710	Conotruncal defect	3	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2			6
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		6
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		6
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0001627	HP:0001629	Ventricular septal defect	3	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.		6
HP:0001627	HP:0001631	Atrial septal defect	3	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.		6
HP:0001627	HP:0005152	Histiocytoid cardiomyopathy	3	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.		6
HP:0001627	HP:0001631	Atrial septal defect	3	CPE CL E G H	1363	2303	OMIM:619326	BDV SYNDROME; BDVS
HP:0001627	HP:0001696	Situs inversus totalis	3	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001629	Ventricular septal defect	3	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.		1
HP:0001627	HP:0001631	Atrial septal defect	3	CPLX1 CL E G H	10815	2309	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		1
HP:0001627	HP:0001631	Atrial septal defect	3	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	CPT1A CL E G H	1374	2328	ORPHA:156	Carnitine palmitoyl transferase 1A deficiency	HP:0040283 - Occasional		99
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	CPT2 CL E G H	1376	2330	OMIM:600649	Carnitine palmitoyltransferase II deficiency, infantile	.		101
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.		101
HP:0001627	HP:0001629	Ventricular septal defect	3	CRB2 CL E G H	286204	18688	OMIM:219730	Ventriculomegaly with cystic kidney disease	HP:0040283 - Occasional		12
HP:0001627	HP:0001629	Ventricular septal defect	3	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001627	HP:0001631	Atrial septal defect	3	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001627	HP:0001655	Patent foramen ovale	3	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001627	HP:0001629	Ventricular septal defect	3	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional		291
HP:0001627	HP:0001631	Atrial septal defect	3	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional		291
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion			291
HP:0001627	HP:0001629	Ventricular septal defect	3	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional		291
HP:0001627	HP:0001631	Atrial septal defect	3	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional		291
HP:0001627	HP:0001655	Patent foramen ovale	3	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional		291
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations			291
HP:0001627	HP:0001629	Ventricular septal defect	3	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001631	Atrial septal defect	3	CRKL CL E G H	1399	2363	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	CRYAB CL E G H	1410	2389	OMIM:615184	Cardiomyopathy, dilated, 1ii	.		46
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	CRYAB CL E G H	1410	2389	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		46
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	CRYAB CL E G H	1410	2389	OMIM:608810	Myopathy, myofibrillar, 2, mfm2	.		46
HP:0001627	HP:0001629	Ventricular septal defect	3	CSGALNACT1 CL E G H	55790	24290	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent
HP:0001627	HP:0001629	Ventricular septal defect	3	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001627	HP:0001631	Atrial septal defect	3	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001627	HP:0001655	Patent foramen ovale	3	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001627	HP:0001696	Situs inversus totalis	3	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		57
HP:0001627	HP:0001696	Situs inversus totalis	3	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		57
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	CSRP3 CL E G H	8048	2472	OMIM:607482	CARDIOMYOPATHY, DILATED, 1M; CMD1M			104
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	CSRP3 CL E G H	8048	2472	OMIM:612124	Cardiomyopathy, familial hypertrophic, 12			104
HP:0001627	HP:0005144	Ventricular septal hypertrophy	3	CSRP3 CL E G H	8048	2472	OMIM:612124	Cardiomyopathy, familial hypertrophic, 12			104
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	CSRP3 CL E G H	8048	2472	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		104
HP:0001627	HP:0001629	Ventricular septal defect	3	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.		2
HP:0001627	HP:0001631	Atrial septal defect	3	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001627	HP:0001631	Atrial septal defect	3	CTBP1 CL E G H	1487	2494	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		2
HP:0001627	HP:0001631	Atrial septal defect	3	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040282 - Frequent		20
HP:0001627	HP:0001631	Atrial septal defect	3	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21			20
HP:0001627	HP:0005133	Right ventricular dilatation	3	CTNNA3 CL E G H	29119	2511	OMIM:615616	Arrhythmogenic right ventricular dysplasia, familial, 13			98
HP:0001627	HP:0001629	Ventricular septal defect	3	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.		1
HP:0001627	HP:0001631	Atrial septal defect	3	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome	.		1
HP:0001627	HP:0001631	Atrial septal defect	3	CUL3 CL E G H	8452	2553	OMIM:619239	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES; NEDAUS			92
HP:0001627	HP:0001629	Ventricular septal defect	3	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional		4
HP:0001627	HP:0001629	Ventricular septal defect	3	CWC27 CL E G H	10283	10664	OMIM:250410	Retinitis pigmentosa with or without skeletal anomalies			4
HP:0001627	HP:0001710	Conotruncal defect	3	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome			9
HP:0001627	HP:0001629	Ventricular septal defect	3	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040284 - Very rare
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	CYTB CL E G H	4519	7427	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001627	HP:0001631	Atrial septal defect	3	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		2
HP:0001627	HP:0001710	Conotruncal defect	3	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome			2
HP:0001627	HP:0031566	Abnormal pulmonary valve cusp morphology	3	DAXX CL E G H	1616	2681	ORPHA:100075	Neuroendocrine tumor of stomach	HP:0040284 - Very rare
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	DCHS1 CL E G H	8642	13681	OMIM:607829	Mitral valve prolapse, myxomatous 2			27
HP:0001627	HP:0001629	Ventricular septal defect	3	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome	.		13
HP:0001627	HP:0001710	Conotruncal defect	3	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome			13
HP:0001627	HP:0005164	Dysplastic pulmonary valve	3	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102			57
HP:0001627	HP:0001710	Conotruncal defect	3	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5			2
HP:0001627	HP:0001629	Ventricular septal defect	3	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0001627	HP:0001710	Conotruncal defect	3	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0001627	HP:0001631	Atrial septal defect	3	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001627	HP:0001655	Patent foramen ovale	3	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001627	HP:0001631	Atrial septal defect	3	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001627	HP:0200128	Biventricular hypertrophy	3	DEF6 CL E G H	50619	2760	OMIM:619573	IMMUNODEFICIENCY 87 AND AUTOIMMUNITY; IMD87
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	DES CL E G H	1674	2770	OMIM:604765	CARDIOMYOPATHY, DILATED, 1I; CMD1I			263
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy			263
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	DES CL E G H	1674	2770	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		263
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1			263
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1			263
HP:0001627	HP:0001723	Restrictive cardiomyopathy	3	DES CL E G H	1674	2770	OMIM:601419	Myopathy, myofibrillar, 1			263
HP:0001627	HP:0001629	Ventricular septal defect	3	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0001710	Conotruncal defect	3	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0001629	Ventricular septal defect	3	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0001710	Conotruncal defect	3	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0001629	Ventricular septal defect	3	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0001710	Conotruncal defect	3	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0001629	Ventricular septal defect	3	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent		159
HP:0001627	HP:0001629	Ventricular septal defect	3	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0001627	HP:0001631	Atrial septal defect	3	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent		159
HP:0001627	HP:0001631	Atrial septal defect	3	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0001627	HP:0001710	Conotruncal defect	3	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly			22
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency	.		89
HP:0001627	HP:0001629	Ventricular septal defect	3	DLK1 CL E G H	8788	2907	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional		1
HP:0001627	HP:0001629	Ventricular septal defect	3	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0001627	HP:0001631	Atrial septal defect	3	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0001627	HP:0001710	Conotruncal defect	3	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly			3
HP:0001627	HP:0001710	Conotruncal defect	3	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0001627	HP:0001629	Ventricular septal defect	3	DLL4 CL E G H	54567	2910	OMIM:616589	Adams-Oliver syndrome 6	.		9
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	DMD CL E G H	1756	2928	OMIM:302045	Cardiomyopathy, dilated, 3B	.		1496
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	DMD CL E G H	1756	2928	OMIM:310200	Duchenne muscular dystrophy	.		1496
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	DMD CL E G H	1756	2928	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		1496
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	DMD CL E G H	1756	2928	ORPHA:206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers			1496
HP:0001627	HP:0001629	Ventricular septal defect	3	DMXL2 CL E G H	23312	2938	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		3
HP:0001627	HP:0001696	Situs inversus totalis	3	DNAAF1 CL E G H	123872	30539	OMIM:613193	Ciliary dyskinesia, primary, 13	.		116
HP:0001627	HP:0001669	Transposition of the great arteries	3	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		116
HP:0001627	HP:0001696	Situs inversus totalis	3	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		116
HP:0001627	HP:0001710	Conotruncal defect	3	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0001627	HP:0011539	Atrial situs ambiguous	3	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		116
HP:0001627	HP:0001696	Situs inversus totalis	3	DNAAF11 CL E G H	23639	16725	OMIM:614935	Ciliary dyskinesia, primary, 19	HP:0040282 - Frequent
HP:0001627	HP:0001669	Transposition of the great arteries	3	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001696	Situs inversus totalis	3	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011539	Atrial situs ambiguous	3	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001696	Situs inversus totalis	3	DNAAF2 CL E G H	55172	20188	OMIM:612518	CILIARY DYSKINESIA, PRIMARY, 10; CILD10			78
HP:0001627	HP:0001669	Transposition of the great arteries	3	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		78
HP:0001627	HP:0001696	Situs inversus totalis	3	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		78
HP:0001627	HP:0001710	Conotruncal defect	3	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0001627	HP:0011539	Atrial situs ambiguous	3	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		78
HP:0001627	HP:0001696	Situs inversus totalis	3	DNAAF3 CL E G H	352909	30492	OMIM:606763	Ciliary dyskinesia, primary, 2	.		63
HP:0001627	HP:0001669	Transposition of the great arteries	3	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		63
HP:0001627	HP:0001696	Situs inversus totalis	3	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		63
HP:0001627	HP:0001710	Conotruncal defect	3	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0001627	HP:0011539	Atrial situs ambiguous	3	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		63
HP:0001627	HP:0001696	Situs inversus totalis	3	DNAAF4 CL E G H	161582	21493	OMIM:615482	Ciliary dyskinesia, primary, 25	.		27
HP:0001627	HP:0001669	Transposition of the great arteries	3	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		27
HP:0001627	HP:0001696	Situs inversus totalis	3	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		27
HP:0001627	HP:0001710	Conotruncal defect	3	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0001627	HP:0011539	Atrial situs ambiguous	3	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		27
HP:0001627	HP:0001696	Situs inversus totalis	3	DNAAF5 CL E G H	54919	26013	OMIM:614874	Ciliary dyskinesia, primary, 18	HP:0040282 - Frequent		62
HP:0001627	HP:0001669	Transposition of the great arteries	3	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		62
HP:0001627	HP:0001696	Situs inversus totalis	3	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		62
HP:0001627	HP:0001710	Conotruncal defect	3	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0001627	HP:0011539	Atrial situs ambiguous	3	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		62
HP:0001627	HP:0001696	Situs inversus totalis	3	DNAAF6 CL E G H	139212	28570	OMIM:300991	Ciliary dyskinesia, primary, 36, X-linked	.
HP:0001627	HP:0001669	Transposition of the great arteries	3	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001696	Situs inversus totalis	3	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011539	Atrial situs ambiguous	3	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001696	Situs inversus totalis	3	DNAH1 CL E G H	25981	2940	OMIM:617577	Ciliary dyskinesia, primary, 37	.		21
HP:0001627	HP:0001669	Transposition of the great arteries	3	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		21
HP:0001627	HP:0001696	Situs inversus totalis	3	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		21
HP:0001627	HP:0001710	Conotruncal defect	3	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0001627	HP:0011539	Atrial situs ambiguous	3	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		21
HP:0001627	HP:0001696	Situs inversus totalis	3	DNAH11 CL E G H	8701	2942	OMIM:611884	CILIARY DYSKINESIA, PRIMARY, 7; CILD7			542
HP:0001627	HP:0001669	Transposition of the great arteries	3	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		542
HP:0001627	HP:0001696	Situs inversus totalis	3	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		542
HP:0001627	HP:0001710	Conotruncal defect	3	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0001627	HP:0011539	Atrial situs ambiguous	3	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		542
HP:0001627	HP:0001696	Situs inversus totalis	3	DNAH5 CL E G H	1767	2950	OMIM:608644	CILIARY DYSKINESIA, PRIMARY, 3; CILD3			527
HP:0001627	HP:0001669	Transposition of the great arteries	3	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		527
HP:0001627	HP:0001696	Situs inversus totalis	3	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		527
HP:0001627	HP:0001710	Conotruncal defect	3	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0001627	HP:0011539	Atrial situs ambiguous	3	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		527
HP:0001627	HP:0001696	Situs inversus totalis	3	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40	.		18
HP:0001627	HP:0011579	Unbalanced atrioventricular canal defect	3	DNAH9 CL E G H	1770	2953	OMIM:618300	Ciliary dyskinesia, primary, 40			18
HP:0001627	HP:0001669	Transposition of the great arteries	3	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		18
HP:0001627	HP:0001696	Situs inversus totalis	3	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		18
HP:0001627	HP:0001710	Conotruncal defect	3	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0001627	HP:0011539	Atrial situs ambiguous	3	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		18
HP:0001627	HP:0001696	Situs inversus totalis	3	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1	.		73
HP:0001627	HP:0001669	Transposition of the great arteries	3	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		73
HP:0001627	HP:0001696	Situs inversus totalis	3	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		73
HP:0001627	HP:0001710	Conotruncal defect	3	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0001627	HP:0011539	Atrial situs ambiguous	3	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		73
HP:0001627	HP:0001696	Situs inversus totalis	3	DNAI2 CL E G H	64446	18744	OMIM:612444	CILIARY DYSKINESIA, PRIMARY, 9; CILD9			104
HP:0001627	HP:0001669	Transposition of the great arteries	3	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		104
HP:0001627	HP:0001696	Situs inversus totalis	3	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		104
HP:0001627	HP:0001710	Conotruncal defect	3	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0001627	HP:0011539	Atrial situs ambiguous	3	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		104
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0001627	HP:0001669	Transposition of the great arteries	3	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		2
HP:0001627	HP:0001696	Situs inversus totalis	3	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		2
HP:0001627	HP:0001710	Conotruncal defect	3	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0001627	HP:0011539	Atrial situs ambiguous	3	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		2
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V	.		25
HP:0001627	HP:0012817	Noncompaction cardiomyopathy	3	DNAJC19 CL E G H	131118	30528	OMIM:610198	3-@methylglutaconic aciduria, type V	.		25
HP:0001627	HP:0001629	Ventricular septal defect	3	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia			25
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040281 - Very frequent		25
HP:0001627	HP:0001629	Ventricular septal defect	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001631	Atrial septal defect	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0001627	HP:0001696	Situs inversus totalis	3	DNAL1 CL E G H	83544	23247	OMIM:614017	CILIARY DYSKINESIA, PRIMARY, 16; CILD16			167
HP:0001627	HP:0001669	Transposition of the great arteries	3	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		167
HP:0001627	HP:0001696	Situs inversus totalis	3	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		167
HP:0001627	HP:0001710	Conotruncal defect	3	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0001627	HP:0011539	Atrial situs ambiguous	3	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		167
HP:0001627	HP:0001629	Ventricular septal defect	3	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome			44
HP:0001627	HP:0001631	Atrial septal defect	3	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional		44
HP:0001627	HP:0001631	Atrial septal defect	3	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional		44
HP:0001627	HP:0001710	Conotruncal defect	3	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0001627	HP:0001629	Ventricular septal defect	3	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001627	HP:0001631	Atrial septal defect	3	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001627	HP:0001684	Secundum atrial septal defect	3	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001627	HP:0011577	Partial atrioventricular canal defect	3	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im	.		55
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0001627	HP:0031329	Interstitial cardiac fibrosis	3	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG			55
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	DOLK CL E G H	22845	23406	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		55
HP:0001627	HP:0001629	Ventricular septal defect	3	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001631	Atrial septal defect	3	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0001627	HP:0001629	Ventricular septal defect	3	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001627	HP:0001631	Atrial septal defect	3	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001627	HP:0001655	Patent foramen ovale	3	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001627	HP:0001631	Atrial septal defect	3	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040283 - Occasional		3
HP:0001627	HP:0001629	Ventricular septal defect	3	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	.		3
HP:0001627	HP:0001629	Ventricular septal defect	3	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0001627	HP:0001629	Ventricular septal defect	3	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001627	HP:0001631	Atrial septal defect	3	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	DPM3 CL E G H	54344	3007	ORPHA:263494	DPM3-CDG	HP:0040282 - Frequent		9
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	DPM3 CL E G H	54344	3007	OMIM:612937	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 15; MDDGC15			9
HP:0001627	HP:0001669	Transposition of the great arteries	3	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		44
HP:0001627	HP:0001696	Situs inversus totalis	3	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		44
HP:0001627	HP:0001710	Conotruncal defect	3	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0001627	HP:0011539	Atrial situs ambiguous	3	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		44
HP:0001627	HP:0011663	Right ventricular cardiomyopathy	3	DSC2 CL E G H	1824	3036	OMIM:610476	Arrhythmogenic right ventricular dysplasia, familial, 11	.		268
HP:0001627	HP:0001631	Atrial septal defect	3	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2			13
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2			13
HP:0001627	HP:0001655	Patent foramen ovale	3	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.		13
HP:0001627	HP:0001629	Ventricular septal defect	3	DSG1 CL E G H	1828	3048	OMIM:615508	Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige	HP:0040283 - Occasional		16
HP:0001627	HP:0011663	Right ventricular cardiomyopathy	3	DSG2 CL E G H	1829	3049	OMIM:610193	Arrhythmogenic right ventricular dysplasia, familial, 10	.		358
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	DSG2 CL E G H	1829	3049	OMIM:612877	CARDIOMYOPATHY, DILATED, 1BB; CMD1BB			358
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	DSG2 CL E G H	1829	3049	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		358
HP:0001627	HP:0011663	Right ventricular cardiomyopathy	3	DSP CL E G H	1832	3052	OMIM:607450	Arrhythmogenic right ventricular dysplasia, familial, 8	.		747
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	DSP CL E G H	1832	3052	OMIM:605676	Cardiomyopathy, dilated, with woolly hair and keratoderma			747
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	DSP CL E G H	1832	3052	OMIM:615821	Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis	.		747
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	DSP CL E G H	1832	3052	ORPHA:65282	Carvajal syndrome	HP:0040281 - Very frequent		747
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	DSP CL E G H	1832	3052	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		747
HP:0001627	HP:0001629	Ventricular septal defect	3	DST CL E G H	667	1090	OMIM:614653	Neuropathy, hereditary sensory and autonomic, type VI			108
HP:0001627	HP:0001629	Ventricular septal defect	3	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1	.		163
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1			163
HP:0001627	HP:0012817	Noncompaction cardiomyopathy	3	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1			163
HP:0001627	HP:0031192	Abnormal morphology of left ventricular trabeculae	3	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1			163
HP:0001627	HP:0001629	Ventricular septal defect	3	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0001627	HP:0001631	Atrial septal defect	3	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0001627	HP:0001655	Patent foramen ovale	3	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0001627	HP:0001629	Ventricular septal defect	3	DYNC2I1 CL E G H	55112	21862	OMIM:615503	Short rib-polydactyly syndrome, type VI	.
HP:0001627	HP:0001629	Ventricular septal defect	3	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		7
HP:0001627	HP:0001631	Atrial septal defect	3	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		7
HP:0001627	HP:0001696	Situs inversus totalis	3	DYNC2LI1 CL E G H	51626	24595	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		7
HP:0001627	HP:0001629	Ventricular septal defect	3	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040284 - Very rare		134
HP:0001627	HP:0001629	Ventricular septal defect	3	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040284 - Very rare		134
HP:0001627	HP:0001667	Right ventricular hypertrophy	3	DYSF CL E G H	8291	3097	ORPHA:268	Dysferlin-related limb-girdle muscular dystrophy R2	HP:0040283 - Occasional		600
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	DZIP1 CL E G H	22873	20908	OMIM:610840	MITRAL VALVE PROLAPSE 3; MVP3
HP:0001627	HP:0001629	Ventricular septal defect	3	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	.		13
HP:0001627	HP:0001631	Atrial septal defect	3	ECE1 CL E G H	1889	3146	OMIM:613870	Hirschsprung disease, cardiac defects, and autonomic dysfunction	.		13
HP:0001627	HP:0001629	Ventricular septal defect	3	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		33
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		33
HP:0001627	HP:0001629	Ventricular septal defect	3	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency	HP:0040283 - Occasional		33
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia			3
HP:0001627	HP:0001629	Ventricular septal defect	3	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	HP:0040283 - Occasional		48
HP:0001627	HP:0001631	Atrial septal defect	3	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.		48
HP:0001627	HP:0001631	Atrial septal defect	3	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040283 - Occasional		48
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	EGFR CL E G H	1956	3236	ORPHA:294023	Neonatal inflammatory skin and bowel disease	HP:0040283 - Occasional		257
HP:0001627	HP:0001710	Conotruncal defect	3	EHMT1 CL E G H	79813	24650	OMIM:610253	Kleefstra syndrome			223
HP:0001627	HP:0001710	Conotruncal defect	3	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional		223
HP:0001627	HP:0001631	Atrial septal defect	3	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040284 - Very rare		65
HP:0001627	HP:0001710	Conotruncal defect	3	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome			65
HP:0001627	HP:0001629	Ventricular septal defect	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001631	Atrial septal defect	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ELAC2 CL E G H	60528	14198	OMIM:615440	Combined oxidative phosphorylation deficiency 17	.		67
HP:0001627	HP:0001629	Ventricular septal defect	3	ELN CL E G H	2006	3327	OMIM:123700	Cutis laxa, autosomal dominant 1			172
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			172
HP:0001627	HP:0001629	Ventricular septal defect	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0001627	HP:0001631	Atrial septal defect	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0001627	HP:0001710	Conotruncal defect	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome			172
HP:0001627	HP:0001629	Ventricular septal defect	3	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0001627	HP:0001631	Atrial septal defect	3	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	EMD CL E G H	2010	3331	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		107
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ENPP1 CL E G H	5167	3356	OMIM:208000	Arterial calcification, generalized, of infancy, 1			151
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum			151
HP:0001627	HP:0001723	Restrictive cardiomyopathy	3	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional		151
HP:0001627	HP:0001710	Conotruncal defect	3	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0001627	HP:0001629	Ventricular septal defect	3	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4	HP:0040283 - Occasional		4
HP:0001627	HP:0001631	Atrial septal defect	3	EOGT CL E G H	285203	28526	OMIM:615297	Adams-Oliver syndrome 4	HP:0040283 - Occasional		4
HP:0001627	HP:0001629	Ventricular septal defect	3	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001627	HP:0001631	Atrial septal defect	3	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001627	HP:0001655	Patent foramen ovale	3	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001627	HP:0001629	Ventricular septal defect	3	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional		250
HP:0001627	HP:0001631	Atrial septal defect	3	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional		250
HP:0001627	HP:0001655	Patent foramen ovale	3	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional		250
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency			250
HP:0001627	HP:0001723	Restrictive cardiomyopathy	3	EPB42 CL E G H	2038	3381	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		51
HP:0001627	HP:0001631	Atrial septal defect	3	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome			40
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.		40
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.		40
HP:0001627	HP:0001631	Atrial septal defect	3	EPHB4 CL E G H	2050	3395	OMIM:617300	Lymphatic malformation 7	HP:0040283 - Occasional		3
HP:0001627	HP:0001629	Ventricular septal defect	3	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2	HP:0040283 - Occasional		12
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2	HP:0040283 - Occasional		12
HP:0001627	HP:0001629	Ventricular septal defect	3	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		106
HP:0001627	HP:0001629	Ventricular septal defect	3	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		54
HP:0001627	HP:0001631	Atrial septal defect	3	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		158
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		158
HP:0001627	HP:0001710	Conotruncal defect	3	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0001627	HP:0001631	Atrial septal defect	3	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q			158
HP:0001627	HP:0010445	Primum atrial septal defect	3	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q			158
HP:0001627	HP:0001629	Ventricular septal defect	3	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0001627	HP:0001631	Atrial septal defect	3	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	ESPN CL E G H	83715	13281	OMIM:618632	USHER SYNDROME, TYPE 1M; USH1M			33
HP:0001627	HP:0001629	Ventricular septal defect	3	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0001710	Conotruncal defect	3	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0001629	Ventricular septal defect	3	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		209
HP:0001627	HP:0001631	Atrial septal defect	3	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		209
HP:0001627	HP:0001696	Situs inversus totalis	3	EVC CL E G H	2121	3497	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		209
HP:0001627	HP:0001631	Atrial septal defect	3	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.		209
HP:0001627	HP:0001629	Ventricular septal defect	3	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		137
HP:0001627	HP:0001631	Atrial septal defect	3	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		137
HP:0001627	HP:0001696	Situs inversus totalis	3	EVC2 CL E G H	132884	19747	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		137
HP:0001627	HP:0001631	Atrial septal defect	3	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.		137
HP:0001627	HP:0001629	Ventricular septal defect	3	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH			1
HP:0001627	HP:0001629	Ventricular septal defect	3	EXT2 CL E G H	2132	3513	OMIM:616682	Seizures, scoliosis, and macrocephaly/microcephaly syndrome	.		102
HP:0001627	HP:0001631	Atrial septal defect	3	EXT2 CL E G H	2132	3513	ORPHA:466926	Seizures-scoliosis-macrocephaly syndrome	HP:0040283 - Occasional		102
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome			3
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	EYA4 CL E G H	2070	3522	OMIM:605362	Cardiomyopathy, dilated, 1J			111
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	EYA4 CL E G H	2070	3522	ORPHA:217622	Sensorineural deafness with dilated cardiomyopathy	HP:0040281 - Very frequent		111
HP:0001627	HP:0001629	Ventricular septal defect	3	FADD CL E G H	8772	3573	ORPHA:306550	FADD-related immunodeficiency	HP:0040283 - Occasional		3
HP:0001627	HP:0001629	Ventricular septal defect	3	FADD CL E G H	8772	3573	OMIM:613759	INFECTIONS, RECURRENT, WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS			3
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	FAH CL E G H	2184	3579	OMIM:276700	Tyrosinemia, type I	.		107
HP:0001627	HP:0001631	Atrial septal defect	3	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		340
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		340
HP:0001627	HP:0001710	Conotruncal defect	3	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0001627	HP:0001631	Atrial septal defect	3	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		58
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		58
HP:0001627	HP:0001710	Conotruncal defect	3	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0001627	HP:0001629	Ventricular septal defect	3	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0001627	HP:0001669	Transposition of the great arteries	3	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked	.		58
HP:0001627	HP:0001631	Atrial septal defect	3	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		410
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		410
HP:0001627	HP:0001710	Conotruncal defect	3	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0001627	HP:0001629	Ventricular septal defect	3	FANCC CL E G H	2176	3584	OMIM:227645	Fanconi anemia, complementation group C			410
HP:0001627	HP:0001631	Atrial septal defect	3	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		147
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		147
HP:0001627	HP:0001710	Conotruncal defect	3	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0001627	HP:0001631	Atrial septal defect	3	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0001627	HP:0001710	Conotruncal defect	3	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0001627	HP:0001631	Atrial septal defect	3	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		87
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		87
HP:0001627	HP:0001710	Conotruncal defect	3	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0001627	HP:0001631	Atrial septal defect	3	FANCF CL E G H	2188	3587	OMIM:603467	FANCONI ANEMIA, COMPLEMENTATION GROUP F; FANCF			87
HP:0001627	HP:0001631	Atrial septal defect	3	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0001627	HP:0001710	Conotruncal defect	3	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0001627	HP:0001631	Atrial septal defect	3	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		157
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		157
HP:0001627	HP:0001710	Conotruncal defect	3	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0001627	HP:0001629	Ventricular septal defect	3	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.		157
HP:0001627	HP:0001631	Atrial septal defect	3	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.		157
HP:0001627	HP:0001655	Patent foramen ovale	3	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.		157
HP:0001627	HP:0001631	Atrial septal defect	3	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		53
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		53
HP:0001627	HP:0001710	Conotruncal defect	3	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0001627	HP:0001631	Atrial septal defect	3	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		107
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		107
HP:0001627	HP:0001710	Conotruncal defect	3	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	FASTKD2 CL E G H	22868	29160	OMIM:618855	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 44; COXPD44			122
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			1361
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2			1361
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0001627	HP:0004382	Mitral valve calcification	3	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	FBN1 CL E G H	2200	3603	OMIM:604308	MASS SYNDROME			1361
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome			1361
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome			1361
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS			1361
HP:0001627	HP:0001629	Ventricular septal defect	3	FBN1 CL E G H	2200	3603	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional		1361
HP:0001627	HP:0001629	Ventricular septal defect	3	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant	.		1361
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly			655
HP:0001627	HP:0001629	Ventricular septal defect	3	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.		655
HP:0001627	HP:0001631	Atrial septal defect	3	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.		655
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital			655
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	FBXL4 CL E G H	26235	13601	OMIM:615471	Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)	HP:0040283 - Occasional		384
HP:0001627	HP:0001631	Atrial septal defect	3	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0001627	HP:0001655	Patent foramen ovale	3	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0001627	HP:0001648	Cor pulmonale	3	FCGR2A CL E G H	2212	3616	OMIM:219700	Cystic fibrosis			6
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0001627	HP:0001631	Atrial septal defect	3	FGF13 CL E G H	2258	3670	OMIM:301058	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 90; DEE90			1
HP:0001627	HP:0001710	Conotruncal defect	3	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly			17
HP:0001627	HP:0001629	Ventricular septal defect	3	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.		172
HP:0001627	HP:0001631	Atrial septal defect	3	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.		172
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis			172
HP:0001627	HP:0011103	Abnormal left ventricular outflow tract morphology	3	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis			172
HP:0001627	HP:0001710	Conotruncal defect	3	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly			172
HP:0001627	HP:0001631	Atrial septal defect	3	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.		175
HP:0001627	HP:0001629	Ventricular septal defect	3	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.		175
HP:0001627	HP:0001631	Atrial septal defect	3	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040283 - Occasional		145
HP:0001627	HP:0001631	Atrial septal defect	3	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2	HP:0040283 - Occasional		145
HP:0001627	HP:0001629	Ventricular septal defect	3	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0001627	HP:0001631	Atrial septal defect	3	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	FHL1 CL E G H	2273	3702	OMIM:300718	Myopathy, reducing body, X-linked, childhood-onset	HP:0040283 - Occasional		68
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	FHL1 CL E G H	2273	3702	OMIM:300696	Myopathy, X-linked, with postural muscle atrophy	.		68
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	FHL1 CL E G H	2273	3702	OMIM:300280	Uruguay faciocardiomusculoskeletal syndrome			68
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	FHL1 CL E G H	2273	3702	ORPHA:98863	X-linked Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		68
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	FHL2 CL E G H	2274	3703	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		36
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	FHOD3 CL E G H	80206	26178	OMIM:619402	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0001627	HP:0031295	Left atrial enlargement	3	FHOD3 CL E G H	80206	26178	OMIM:619402	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0001627	HP:0001629	Ventricular septal defect	3	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040282 - Frequent		2
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome			2
HP:0001627	HP:0001629	Ventricular septal defect	3	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	HP:0040283 - Occasional		2
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome			2
HP:0001627	HP:0001629	Ventricular septal defect	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0001627	HP:0001629	Ventricular septal defect	3	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		111
HP:0001627	HP:0001631	Atrial septal defect	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001627	HP:0001631	Atrial septal defect	3	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional		111
HP:0001627	HP:0001655	Patent foramen ovale	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001627	HP:0001710	Conotruncal defect	3	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001627	HP:0001710	Conotruncal defect	3	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0001627	HP:0001629	Ventricular septal defect	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001631	Atrial septal defect	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	FKRP CL E G H	79147	17997	ORPHA:34515	FKRP-related limb-girdle muscular dystrophy R9	HP:0040283 - Occasional		157
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	.		157
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	FKRP CL E G H	79147	17997	OMIM:607155	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5	.		157
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	FKTN CL E G H	2218	3622	OMIM:611615	Cardiomyopathy, dilated, 1X	.		184
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040283 - Occasional		184
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	FKTN CL E G H	2218	3622	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		184
HP:0001627	HP:0001631	Atrial septal defect	3	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.		184
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.		184
HP:0001627	HP:0001669	Transposition of the great arteries	3	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.		184
HP:0001627	HP:0001631	Atrial septal defect	3	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome	.		332
HP:0001627	HP:0001655	Patent foramen ovale	3	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome	.		332
HP:0001627	HP:0001629	Ventricular septal defect	3	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent		8
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked			493
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked			493
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked			493
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia			493
HP:0001627	HP:0030718	Right atrial enlargement	3	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia			493
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia			493
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia			493
HP:0001627	HP:0001648	Cor pulmonale	3	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.		493
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	FLNA CL E G H	2316	3754	OMIM:300049	Heterotopia, periventricular, X-linked dominant			493
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome			493
HP:0001627	HP:0001631	Atrial septal defect	3	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0001627	HP:0001655	Patent foramen ovale	3	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0001627	HP:0001723	Restrictive cardiomyopathy	3	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0001627	HP:0001629	Ventricular septal defect	3	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.		233
HP:0001627	HP:0001631	Atrial septal defect	3	FLNB CL E G H	2317	3755	OMIM:150250	Larsen syndrome	.		233
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26			197
HP:0001627	HP:0030718	Right atrial enlargement	3	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26			197
HP:0001627	HP:0031295	Left atrial enlargement	3	FLNC CL E G H	2318	3756	OMIM:617047	Cardiomyopathy, familial hypertrophic, 26	HP:0040284 - Very rare		197
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		197
HP:0001627	HP:0030718	Right atrial enlargement	3	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent		197
HP:0001627	HP:0031295	Left atrial enlargement	3	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent		197
HP:0001627	HP:0031329	Interstitial cardiac fibrosis	3	FLNC CL E G H	2318	3756	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent		197
HP:0001627	HP:0001710	Conotruncal defect	3	FLT4 CL E G H	2324	3767	OMIM:618780	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7			90
HP:0001627	HP:0005134	Absence of the pulmonary valve	3	FLT4 CL E G H	2324	3767	OMIM:618780	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7			90
HP:0001627	HP:0001710	Conotruncal defect	3	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot			90
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	FMN2 CL E G H	56776	14074	OMIM:616193	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47			44
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome			30
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome			30
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers			30
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93			1
HP:0001627	HP:0005133	Right ventricular dilatation	3	FNIP1 CL E G H	96459	29418	OMIM:619705	IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY; IMD93			1
HP:0001627	HP:0001629	Ventricular septal defect	3	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0001627	HP:0001631	Atrial septal defect	3	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0001627	HP:0001655	Patent foramen ovale	3	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0001627	HP:0011103	Abnormal left ventricular outflow tract morphology	3	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0001627	HP:0031295	Left atrial enlargement	3	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	FOS CL E G H	2353	3796	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional
HP:0001627	HP:0001631	Atrial septal defect	3	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3	.		63
HP:0001627	HP:0001629	Ventricular septal defect	3	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome	.		20
HP:0001627	HP:0001710	Conotruncal defect	3	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome			20
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			23
HP:0001627	HP:0001629	Ventricular septal defect	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0001631	Atrial septal defect	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0001655	Patent foramen ovale	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0001667	Right ventricular hypertrophy	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0001710	Conotruncal defect	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0010882	Pulmonary valve atresia	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0001629	Ventricular septal defect	3	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional		61
HP:0001627	HP:0001631	Atrial septal defect	3	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional		61
HP:0001627	HP:0001710	Conotruncal defect	3	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0001627	HP:0010882	Pulmonary valve atresia	3	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional		61
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia			61
HP:0001627	HP:0001710	Conotruncal defect	3	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly			48
HP:0001627	HP:0001669	Transposition of the great arteries	3	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001696	Situs inversus totalis	3	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011539	Atrial situs ambiguous	3	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		61
HP:0001627	HP:0001629	Ventricular septal defect	3	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		61
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		61
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19	HP:0040284 - Very rare		61
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies			198
HP:0001627	HP:0001631	Atrial septal defect	3	FRMD5 CL E G H	84978	28214	OMIM:620094
HP:0001627	HP:0001631	Atrial septal defect	3	FTCD CL E G H	10841	3974	ORPHA:51208	Formiminoglutamic aciduria	HP:0040284 - Very rare		65
HP:0001627	HP:0001629	Ventricular septal defect	3	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.		70
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.		70
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	FXN CL E G H	2395	3951	OMIM:229300	Friedreich ataxia 1	.		18
HP:0001627	HP:0001631	Atrial septal defect	3	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive	.		37
HP:0001627	HP:0001684	Secundum atrial septal defect	3	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040281 - Very frequent		407
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	GAA CL E G H	2548	4065	ORPHA:308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	HP:0040281 - Very frequent		407
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0001627	HP:0001710	Conotruncal defect	3	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome			10
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease			6
HP:0001627	HP:0001710	Conotruncal defect	3	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly			2
HP:0001627	HP:0001669	Transposition of the great arteries	3	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		1
HP:0001627	HP:0001696	Situs inversus totalis	3	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		1
HP:0001627	HP:0001710	Conotruncal defect	3	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0001627	HP:0011539	Atrial situs ambiguous	3	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		1
HP:0001627	HP:0001669	Transposition of the great arteries	3	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		9
HP:0001627	HP:0001696	Situs inversus totalis	3	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		9
HP:0001627	HP:0001710	Conotruncal defect	3	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0001627	HP:0011539	Atrial situs ambiguous	3	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		9
HP:0001627	HP:0001629	Ventricular septal defect	3	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		29
HP:0001627	HP:0001631	Atrial septal defect	3	GATA1 CL E G H	2623	4170	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		29
HP:0001627	HP:0001629	Ventricular septal defect	3	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001627	HP:0001631	Atrial septal defect	3	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001627	HP:0001655	Patent foramen ovale	3	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001627	HP:0001674	Complete atrioventricular canal defect	3	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included	.		29
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001627	HP:0001710	Conotruncal defect	3	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040283 - Occasional		87
HP:0001627	HP:0001669	Transposition of the great arteries	3	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040283 - Occasional		87
HP:0001627	HP:0001710	Conotruncal defect	3	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome			87
HP:0001627	HP:0001629	Ventricular septal defect	3	GATA4 CL E G H	2626	4173	OMIM:607941	Atrial septal defect 2	HP:0040283 - Occasional		87
HP:0001627	HP:0001631	Atrial septal defect	3	GATA4 CL E G H	2626	4173	OMIM:607941	Atrial septal defect 2	.		87
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		87
HP:0001627	HP:0005133	Right ventricular dilatation	3	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		87
HP:0001627	HP:0030718	Right atrial enlargement	3	GATA4 CL E G H	2626	4173	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		87
HP:0001627	HP:0001631	Atrial septal defect	3	GATA4 CL E G H	2626	4173	OMIM:614430	Atrioventricular septal defect 4			87
HP:0001627	HP:0010445	Primum atrial septal defect	3	GATA4 CL E G H	2626	4173	OMIM:614430	Atrioventricular septal defect 4	.		87
HP:0001627	HP:0001710	Conotruncal defect	3	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease			87
HP:0001627	HP:0001710	Conotruncal defect	3	GATA4 CL E G H	2626	4173	OMIM:187500	Tetralogy of Fallot			87
HP:0001627	HP:0001710	Conotruncal defect	3	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot			87
HP:0001627	HP:0001629	Ventricular septal defect	3	GATA4 CL E G H	2626	4173	OMIM:614429	Ventricular septal defect 1	.		87
HP:0001627	HP:0001631	Atrial septal defect	3	GATA4 CL E G H	2626	4173	OMIM:614429	Ventricular septal defect 1	HP:0040283 - Occasional		87
HP:0001627	HP:0001710	Conotruncal defect	3	GATA4 CL E G H	2626	4173	OMIM:614429	Ventricular septal defect 1			87
HP:0001627	HP:0001629	Ventricular septal defect	3	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5	.		10
HP:0001627	HP:0001631	Atrial septal defect	3	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5	.		10
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5	HP:0040284 - Very rare		10
HP:0001627	HP:0001710	Conotruncal defect	3	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5			10
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5			10
HP:0001627	HP:0004380	Aortic valve calcification	3	GATA5 CL E G H	140628	15802	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent		10
HP:0001627	HP:0011103	Abnormal left ventricular outflow tract morphology	3	GATA5 CL E G H	140628	15802	ORPHA:402075	Familial bicuspid aortic valve	HP:0040284 - Very rare		10
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	GATA5 CL E G H	140628	15802	ORPHA:402075	Familial bicuspid aortic valve			10
HP:0001627	HP:0001710	Conotruncal defect	3	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot			10
HP:0001627	HP:0001631	Atrial septal defect	3	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9			37
HP:0001627	HP:0001684	Secundum atrial septal defect	3	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9	.		37
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9			37
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		37
HP:0001627	HP:0005133	Right ventricular dilatation	3	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		37
HP:0001627	HP:0030718	Right atrial enlargement	3	GATA6 CL E G H	2627	4174	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		37
HP:0001627	HP:0001629	Ventricular septal defect	3	GATA6 CL E G H	2627	4174	OMIM:614474	Atrioventricular septal defect 5			37
HP:0001627	HP:0001669	Transposition of the great arteries	3	GATA6 CL E G H	2627	4174	OMIM:217095	Conotruncal heart malformations	.		37
HP:0001627	HP:0001674	Complete atrioventricular canal defect	3	GATA6 CL E G H	2627	4174	OMIM:217095	Conotruncal heart malformations	.		37
HP:0001627	HP:0001710	Conotruncal defect	3	GATA6 CL E G H	2627	4174	OMIM:217095	Conotruncal heart malformations			37
HP:0001627	HP:0001629	Ventricular septal defect	3	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001627	HP:0001631	Atrial septal defect	3	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001627	HP:0001655	Patent foramen ovale	3	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001627	HP:0001669	Transposition of the great arteries	3	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects	.		37
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001627	HP:0001710	Conotruncal defect	3	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001627	HP:0011581	Double outlet left ventricle	3	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001627	HP:0011629	Total absence of the pericardium	3	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001627	HP:0001629	Ventricular septal defect	3	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040281 - Very frequent		37
HP:0001627	HP:0001631	Atrial septal defect	3	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040281 - Very frequent		37
HP:0001627	HP:0001655	Patent foramen ovale	3	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040281 - Very frequent		37
HP:0001627	HP:0001669	Transposition of the great arteries	3	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040283 - Occasional		37
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0001627	HP:0001710	Conotruncal defect	3	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome			37
HP:0001627	HP:0004762	Hypoplasia of right ventricle	3	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040283 - Occasional		37
HP:0001627	HP:0011581	Double outlet left ventricle	3	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040283 - Occasional		37
HP:0001627	HP:0001710	Conotruncal defect	3	GATA6 CL E G H	2627	4174	OMIM:187500	Tetralogy of Fallot			37
HP:0001627	HP:0001710	Conotruncal defect	3	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot			37
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	GATAD1 CL E G H	57798	29941	OMIM:614672	Cardiomyopathy, dilated, 2B	.		35
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	GATAD1 CL E G H	57798	29941	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		35
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3
HP:0001627	HP:0004380	Aortic valve calcification	3	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040283 - Occasional
HP:0001627	HP:0004382	Mitral valve calcification	3	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040283 - Occasional
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC
HP:0001627	HP:0004380	Aortic valve calcification	3	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC	.
HP:0001627	HP:0004382	Mitral valve calcification	3	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0001627	HP:0004380	Aortic valve calcification	3	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040282 - Frequent
HP:0001627	HP:0004382	Mitral valve calcification	3	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040282 - Frequent
HP:0001627	HP:0006689	Bacterial endocarditis	3	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040284 - Very rare
HP:0001627	HP:0001629	Ventricular septal defect	3	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6	.		28
HP:0001627	HP:0001631	Atrial septal defect	3	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6			28
HP:0001627	HP:0001669	Transposition of the great arteries	3	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6			28
HP:0001627	HP:0001674	Complete atrioventricular canal defect	3	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6	.		28
HP:0001627	HP:0001684	Secundum atrial septal defect	3	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6	.		28
HP:0001627	HP:0001710	Conotruncal defect	3	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6			28
HP:0001627	HP:0001629	Ventricular septal defect	3	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)	.		28
HP:0001627	HP:0001631	Atrial septal defect	3	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)	.		28
HP:0001627	HP:0001669	Transposition of the great arteries	3	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0001627	HP:0001674	Complete atrioventricular canal defect	3	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)	.		28
HP:0001627	HP:0001696	Situs inversus totalis	3	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0001627	HP:0001710	Conotruncal defect	3	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0001627	HP:0011536	Right atrial isomerism	3	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0001627	HP:0001710	Conotruncal defect	3	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot			28
HP:0001627	HP:0001629	Ventricular septal defect	3	GDF3 CL E G H	9573	4218	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040283 - Occasional		7
HP:0001627	HP:0001629	Ventricular septal defect	3	GDF6 CL E G H	392255	4221	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040283 - Occasional		64
HP:0001627	HP:0001629	Ventricular septal defect	3	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3			68
HP:0001627	HP:0001631	Atrial septal defect	3	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3			68
HP:0001627	HP:0010445	Primum atrial septal defect	3	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3	.		68
HP:0001627	HP:0001631	Atrial septal defect	3	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional		68
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome			68
HP:0001627	HP:0011560	Mitral atresia	3	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional		68
HP:0001627	HP:0001629	Ventricular septal defect	3	GJA1 CL E G H	2697	4274	ORPHA:2710	Oculodentodigital dysplasia	HP:0040283 - Occasional		68
HP:0001627	HP:0001631	Atrial septal defect	3	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	HP:0040283 - Occasional		68
HP:0001627	HP:0200127	Atrial cardiomyopathy	3	GJA5 CL E G H	2702	4279	OMIM:108770	Atrial standstill 1	.		39
HP:0001627	HP:0001629	Ventricular septal defect	3	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0001627	HP:0001631	Atrial septal defect	3	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0001627	HP:0001669	Transposition of the great arteries	3	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.		39
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0001627	HP:0001710	Conotruncal defect	3	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot			39
HP:0001627	HP:0001629	Ventricular septal defect	3	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0001627	HP:0001631	Atrial septal defect	3	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0001627	HP:0001669	Transposition of the great arteries	3	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.		34
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040283 - Occasional		291
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	GLA CL E G H	2717	4296	ORPHA:324	Fabry disease	HP:0040283 - Occasional		291
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.		291
HP:0001627	HP:0005144	Ventricular septal hypertrophy	3	GLA CL E G H	2717	4296	OMIM:301500	Fabry disease	.		291
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I	.		120
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	GLB1 CL E G H	2720	4298	OMIM:230500	GM1-gangliosidosis, type I	.		120
HP:0001627	HP:0001629	Ventricular septal defect	3	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		1
HP:0001627	HP:0001631	Atrial septal defect	3	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		1
HP:0001627	HP:0001696	Situs inversus totalis	3	GLI1 CL E G H	2735	4317	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		1
HP:0001627	HP:0001710	Conotruncal defect	3	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly			173
HP:0001627	HP:0001629	Ventricular septal defect	3	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional		270
HP:0001627	HP:0001629	Ventricular septal defect	3	GLI3 CL E G H	2737	4319	OMIM:146510	Pallister-Hall syndrome			270
HP:0001627	HP:0001631	Atrial septal defect	3	GLI3 CL E G H	2737	4319	ORPHA:672	Pallister-Hall syndrome	HP:0040283 - Occasional		270
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	GLRX5 CL E G H	51218	20134	ORPHA:401866	Childhood-onset spasticity with hyperglycinemia	HP:0040284 - Very rare		17
HP:0001627	HP:0001629	Ventricular septal defect	3	GNAO1 CL E G H	2775	4389	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		36
HP:0001627	HP:0001629	Ventricular septal defect	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001627	HP:0001669	Transposition of the great arteries	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001627	HP:0001710	Conotruncal defect	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001627	HP:0011103	Abnormal left ventricular outflow tract morphology	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001627	HP:0011560	Mitral atresia	3	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001627	HP:0001631	Atrial septal defect	3	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome			7
HP:0001627	HP:0001655	Patent foramen ovale	3	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome	HP:0040283 - Occasional		7
HP:0001627	HP:0001631	Atrial septal defect	3	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:0001627	HP:0001655	Patent foramen ovale	3	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:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.		240
HP:0001627	HP:0001631	Atrial septal defect	3	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II			240
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040282 - Frequent		240
HP:0001627	HP:0001655	Patent foramen ovale	3	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional		240
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional		240
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID			69
HP:0001627	HP:0001629	Ventricular septal defect	3	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		8
HP:0001627	HP:0001631	Atrial septal defect	3	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		8
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0001627	HP:0001710	Conotruncal defect	3	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0001627	HP:0001629	Ventricular septal defect	3	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent		73
HP:0001627	HP:0001631	Atrial septal defect	3	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent		73
HP:0001627	HP:0001629	Ventricular septal defect	3	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0001627	HP:0001631	Atrial septal defect	3	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0001627	HP:0001667	Right ventricular hypertrophy	3	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0001627	HP:0001669	Transposition of the great arteries	3	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0001627	HP:0001629	Ventricular septal defect	3	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040281 - Very frequent
HP:0001627	HP:0001631	Atrial septal defect	3	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040282 - Frequent
HP:0001627	HP:0001629	Ventricular septal defect	3	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001627	HP:0001631	Atrial septal defect	3	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001627	HP:0001667	Right ventricular hypertrophy	3	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001627	HP:0001669	Transposition of the great arteries	3	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0001627	HP:0001629	Ventricular septal defect	3	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.		99
HP:0001627	HP:0001631	Atrial septal defect	3	GPC6 CL E G H	10082	4454	OMIM:258315	Omodysplasia 1	.		99
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	GPR101 CL E G H	83550	14963	ORPHA:963	Acromegaly	HP:0040283 - Occasional		5
HP:0001627	HP:0001631	Atrial septal defect	3	GPX4 CL E G H	2879	4556	OMIM:250220	Spondylometaphyseal dysplasia, Sedaghatian type	.		3
HP:0001627	HP:0001629	Ventricular septal defect	3	GRIN1 CL E G H	2902	4584	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		108
HP:0001627	HP:0001629	Ventricular septal defect	3	GRM7 CL E G H	2917	4599	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		5
HP:0001627	HP:0001629	Ventricular septal defect	3	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		2
HP:0001627	HP:0001629	Ventricular septal defect	3	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0001627	HP:0001629	Ventricular septal defect	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001631	Atrial septal defect	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001710	Conotruncal defect	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001629	Ventricular septal defect	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001631	Atrial septal defect	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001710	Conotruncal defect	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001629	Ventricular septal defect	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001631	Atrial septal defect	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001710	Conotruncal defect	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040281 - Very frequent		30
HP:0001627	HP:0001667	Right ventricular hypertrophy	3	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040283 - Occasional		30
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	GTPBP3 CL E G H	84705	14880	ORPHA:444013	Combined oxidative phosphorylation defect type 23	HP:0040283 - Occasional		30
HP:0001627	HP:0005144	Ventricular septal hypertrophy	3	GYG1 CL E G H	2992	4699	ORPHA:263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	HP:0040282 - Frequent		18
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	GYS1 CL E G H	2997	4706	OMIM:611556	Glycogen storage disease 0, muscle	.		52
HP:0001627	HP:0031295	Left atrial enlargement	3	GYS1 CL E G H	2997	4706	OMIM:611556	Glycogen storage disease 0, muscle	.		52
HP:0001627	HP:0001631	Atrial septal defect	3	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0001627	HP:0001631	Atrial septal defect	3	H3-3B CL E G H	3021	4765	OMIM:619721	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
HP:0001627	HP:0001631	Atrial septal defect	3	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0001627	HP:0001684	Secundum atrial septal defect	3	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0001627	HP:0001631	Atrial septal defect	3	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0001627	HP:0001684	Secundum atrial septal defect	3	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0001627	HP:0001631	Atrial septal defect	3	HAAO CL E G H	23498	4796	OMIM:617660	Vertebral, cardiac, renal, and limb defects syndrome 1	.		2
HP:0001627	HP:0001631	Atrial septal defect	3	HACD1 CL E G H	9200	9639	OMIM:619967				2
HP:0001627	HP:0001655	Patent foramen ovale	3	HACD1 CL E G H	9200	9639	OMIM:619967				2
HP:0001627	HP:0001648	Cor pulmonale	3	HACD1 CL E G H	9200	9639	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency	.		41
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	HADH CL E G H	3033	4799	OMIM:231530	3-Hydroxyacyl-Coa dehydrogenase deficiency	.		41
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare		41
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	HADH CL E G H	3033	4799	ORPHA:71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare		41
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	HADHA CL E G H	3030	4801	ORPHA:5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	HP:0040282 - Frequent		99
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	HADHA CL E G H	3030	4801	OMIM:609015	Mitochondrial trifunctional protein deficiency			99
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	HADHA CL E G H	3030	4801	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent		99
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	HADHB CL E G H	3032	4803	OMIM:609015	Mitochondrial trifunctional protein deficiency			60
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	HADHB CL E G H	3032	4803	ORPHA:746	Mitochondrial trifunctional protein deficiency	HP:0040282 - Frequent		60
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	HAMP CL E G H	57817	15598	ORPHA:79230	Hemochromatosis type 2	HP:0040282 - Frequent		15
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	HAND2 CL E G H	9464	4808	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		2
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	HBB CL E G H	3043	4827	ORPHA:231214	Beta-thalassemia major	HP:0040283 - Occasional		580
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	HBB CL E G H	3043	4827	ORPHA:231226	Dominant beta-thalassemia	HP:0040284 - Very rare		580
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		11
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		11
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0001627	HP:0001629	Ventricular septal defect	3	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.		11
HP:0001627	HP:0001631	Atrial septal defect	3	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.		11
HP:0001627	HP:0005152	Histiocytoid cardiomyopathy	3	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.		11
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2			185
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2	HP:0040283 - Occasional		185
HP:0001627	HP:0031192	Abnormal morphology of left ventricular trabeculae	3	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2			185
HP:0001627	HP:0011103	Abnormal left ventricular outflow tract morphology	3	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome			33
HP:0001627	HP:0001629	Ventricular septal defect	3	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		37
HP:0001627	HP:0001631	Atrial septal defect	3	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		37
HP:0001627	HP:0001631	Atrial septal defect	3	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0001627	HP:0001684	Secundum atrial septal defect	3	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0001627	HP:0001696	Situs inversus totalis	3	HES7 CL E G H	84667	15977	OMIM:613686	Spondylocostal dysostosis 4, autosomal recessive	.		10
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria			77
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria			77
HP:0001627	HP:0004380	Aortic valve calcification	3	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria	HP:0040282 - Frequent		77
HP:0001627	HP:0004380	Aortic valve calcification	3	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria	.		77
HP:0001627	HP:0004382	Mitral valve calcification	3	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria	HP:0040282 - Frequent		77
HP:0001627	HP:0004382	Mitral valve calcification	3	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria	.		77
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC			86
HP:0001627	HP:0001710	Conotruncal defect	3	HIBCH CL E G H	26275	4908	OMIM:250620	3-Hydroxyisobutyryl-Coa hydrolase deficiency			32
HP:0001627	HP:0001710	Conotruncal defect	3	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency			32
HP:0001627	HP:0001629	Ventricular septal defect	3	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		3
HP:0001627	HP:0001631	Atrial septal defect	3	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		3
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0001627	HP:0001710	Conotruncal defect	3	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	HJV CL E G H	148738	4887	ORPHA:79230	Hemochromatosis type 2	HP:0040282 - Frequent
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	HJV CL E G H	148738	4887	OMIM:602390	Hemochromatosis, type 2A	.
HP:0001627	HP:0001710	Conotruncal defect	3	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0001627	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	3	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		4
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent		4
HP:0001627	HP:0001710	Conotruncal defect	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0001627	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	3	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		2
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	HMGCL CL E G H	3155	5005	ORPHA:20	3-hydroxy-3-methylglutaric aciduria	HP:0040284 - Very rare		35
HP:0001627	HP:0001631	Atrial septal defect	3	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0001627	HP:0001629	Ventricular septal defect	3	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:0001627	HP:0001631	Atrial septal defect	3	HNRNPK CL E G H	3190	5044	ORPHA:352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	HP:0040283 - Occasional		8
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	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:0001627	HP:0001629	Ventricular septal defect	3	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:0001627	HP:0001631	Atrial septal defect	3	HNRNPK CL E G H	3190	5044	ORPHA:453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	HP:0040283 - Occasional		8
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	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:0001627	HP:0001629	Ventricular septal defect	3	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0001627	HP:0001629	Ventricular septal defect	3	HOXA13 CL E G H	3209	5102	ORPHA:2438	Hand-foot-genital syndrome	HP:0040283 - Occasional		11
HP:0001627	HP:0001629	Ventricular septal defect	3	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0001627	HP:0001629	Ventricular septal defect	3	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040281 - Very frequent		113
HP:0001627	HP:0001631	Atrial septal defect	3	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome			113
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040282 - Frequent		113
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	HSD11B2 CL E G H	3291	5209	ORPHA:320	Apparent mineralocorticoid excess	HP:0040283 - Occasional		14
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040283 - Occasional		19
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	HSD17B10 CL E G H	3028	4800	ORPHA:391457	HSD10 disease, neonatal type	HP:0040281 - Very frequent		19
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	HSD17B10 CL E G H	3028	4800	OMIM:300438	HSD10 mitochondrial disease	.		19
HP:0001627	HP:0001631	Atrial septal defect	3	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome			6
HP:0001627	HP:0001655	Patent foramen ovale	3	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome	.		6
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0001627	HP:0001710	Conotruncal defect	3	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome			345
HP:0001627	HP:0001669	Transposition of the great arteries	3	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		21
HP:0001627	HP:0001696	Situs inversus totalis	3	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		21
HP:0001627	HP:0001710	Conotruncal defect	3	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0001627	HP:0011539	Atrial situs ambiguous	3	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		21
HP:0001627	HP:0001629	Ventricular septal defect	3	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0001627	HP:0001674	Complete atrioventricular canal defect	3	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.		31
HP:0001627	HP:0001696	Situs inversus totalis	3	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		31
HP:0001627	HP:0001629	Ventricular septal defect	3	HYMAI CL E G H	57061	5326	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0001627	HP:0001629	Ventricular septal defect	3	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0001627	HP:0001631	Atrial septal defect	3	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0001627	HP:0001684	Secundum atrial septal defect	3	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional		86
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	IDS CL E G H	3423	5389	ORPHA:217093	Mucopolysaccharidosis type 2, attenuated form	HP:0040283 - Occasional		86
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional		86
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	IDS CL E G H	3423	5389	ORPHA:217085	Mucopolysaccharidosis type 2, severe form	HP:0040283 - Occasional		86
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare		28
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	IFIH1 CL E G H	64135	18873	OMIM:615846	Aicardi-Goutieres syndrome 7			28
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0001627	HP:0004380	Aortic valve calcification	3	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.		28
HP:0001627	HP:0004382	Mitral valve calcification	3	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.		28
HP:0001627	HP:0011103	Abnormal left ventricular outflow tract morphology	3	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1			28
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia			93
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease			148
HP:0001627	HP:0001631	Atrial septal defect	3	IFT172 CL E G H	26160	30391	OMIM:619471	BARDET-BIEDL SYNDROME 20; BBS20			48
HP:0001627	HP:0001629	Ventricular septal defect	3	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	HP:0040283 - Occasional		48
HP:0001627	HP:0001629	Ventricular septal defect	3	IFT81 CL E G H	28981	14313	OMIM:617895	Short-Rib thoracic dysplasia 19 with or without polydactyly			2
HP:0001627	HP:0001629	Ventricular septal defect	3	IGBP1 CL E G H	3476	5461	ORPHA:52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	HP:0040282 - Frequent		5
HP:0001627	HP:0001629	Ventricular septal defect	3	IGBP1 CL E G H	3476	5461	OMIM:300472	CORPUS CALLOSUM, AGENESIS OF, WITH MENTAL RETARDATION, OCULAR COLOBOMA, AND MICROGNATHIA			5
HP:0001627	HP:0001629	Ventricular septal defect	3	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0001627	HP:0001631	Atrial septal defect	3	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0001627	HP:0001655	Patent foramen ovale	3	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent		31
HP:0001627	HP:0001696	Situs inversus totalis	3	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		111
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	INSR CL E G H	3643	6091	ORPHA:508	Leprechaunism	HP:0040282 - Frequent		229
HP:0001627	HP:0001629	Ventricular septal defect	3	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional		229
HP:0001627	HP:0001631	Atrial septal defect	3	INSR CL E G H	3643	6091	ORPHA:769	Rabson-Mendenhall syndrome	HP:0040283 - Occasional		229
HP:0001627	HP:0001710	Conotruncal defect	3	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0001627	HP:0001674	Complete atrioventricular canal defect	3	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0001627	HP:0001710	Conotruncal defect	3	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0001627	HP:0001696	Situs inversus totalis	3	INVS CL E G H	27130	17870	OMIM:602088	Nephronophthisis 2	HP:0040283 - Occasional		106
HP:0001627	HP:0001629	Ventricular septal defect	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001627	HP:0001631	Atrial septal defect	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001627	HP:0001655	Patent foramen ovale	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001627	HP:0001667	Right ventricular hypertrophy	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001627	HP:0001710	Conotruncal defect	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001627	HP:0005133	Right ventricular dilatation	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001627	HP:0031298	Coronary sinus enlargement	3	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001627	HP:0001696	Situs inversus totalis	3	IRF6 CL E G H	3664	6121	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		99
HP:0001627	HP:0001631	Atrial septal defect	3	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome	HP:0040283 - Occasional		4
HP:0001627	HP:0001674	Complete atrioventricular canal defect	3	IRX5 CL E G H	10265	14361	OMIM:611174	Hamamy syndrome			4
HP:0001627	HP:0001648	Cor pulmonale	3	ITGA7 CL E G H	3679	6143	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		127
HP:0001627	HP:0001629	Ventricular septal defect	3	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.		257
HP:0001627	HP:0001631	Atrial septal defect	3	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.		257
HP:0001627	HP:0001710	Conotruncal defect	3	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1			257
HP:0001627	HP:0001629	Ventricular septal defect	3	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE			257
HP:0001627	HP:0001710	Conotruncal defect	3	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE			257
HP:0001627	HP:0001710	Conotruncal defect	3	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot			257
HP:0001627	HP:0001710	Conotruncal defect	3	JAG1 CL E G H	182	6188	OMIM:187500	Tetralogy of Fallot			257
HP:0001627	HP:0001629	Ventricular septal defect	3	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts			4
HP:0001627	HP:0001629	Ventricular septal defect	3	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		2
HP:0001627	HP:0001631	Atrial septal defect	3	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		2
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0001627	HP:0001710	Conotruncal defect	3	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	JPH2 CL E G H	57158	14202	OMIM:619492	CARDIOMYOPATHY, DILATED, 2E; CMD2E			111
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	JPH2 CL E G H	57158	14202	OMIM:619492	CARDIOMYOPATHY, DILATED, 2E; CMD2E			111
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	JPH2 CL E G H	57158	14202	OMIM:613873	Cardiomyopathy, familial hypertrophic, 17			111
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	JPH2 CL E G H	57158	14202	OMIM:613873	Cardiomyopathy, familial hypertrophic, 17	.		111
HP:0001627	HP:0011663	Right ventricular cardiomyopathy	3	JUP CL E G H	3728	6207	OMIM:611528	ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12			222
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease	.		222
HP:0001627	HP:0011663	Right ventricular cardiomyopathy	3	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease			222
HP:0001627	HP:0031193	Abnormal morphology of right ventricular trabeculae	3	JUP CL E G H	3728	6207	OMIM:601214	Naxos disease			222
HP:0001627	HP:0001629	Ventricular septal defect	3	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional		283
HP:0001627	HP:0001631	Atrial septal defect	3	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional		283
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0001627	HP:0001629	Ventricular septal defect	3	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0001627	HP:0001631	Atrial septal defect	3	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0001627	HP:0001629	Ventricular septal defect	3	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional		283
HP:0001627	HP:0001631	Atrial septal defect	3	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional		283
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0001627	HP:0001629	Ventricular septal defect	3	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0001627	HP:0005164	Dysplastic pulmonary valve	3	KAT5 CL E G H	10524	5275	OMIM:619103	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES; NEDFASB			1
HP:0001627	HP:0001629	Ventricular septal defect	3	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome	.		34
HP:0001627	HP:0001631	Atrial septal defect	3	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0001627	HP:0001684	Secundum atrial septal defect	3	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0001627	HP:0001629	Ventricular septal defect	3	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040282 - Frequent		34
HP:0001627	HP:0001631	Atrial septal defect	3	KAT6A CL E G H	7994	13013	ORPHA:457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	HP:0040282 - Frequent		34
HP:0001627	HP:0001629	Ventricular septal defect	3	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent		141
HP:0001627	HP:0001631	Atrial septal defect	3	KAT6B CL E G H	23522	17582	ORPHA:3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	HP:0040282 - Frequent		141
HP:0001627	HP:0001629	Ventricular septal defect	3	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.		141
HP:0001627	HP:0001631	Atrial septal defect	3	KAT6B CL E G H	23522	17582	ORPHA:85201	Genitopatellar syndrome	HP:0040283 - Occasional		141
HP:0001627	HP:0001631	Atrial septal defect	3	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.		141
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	KAT6B CL E G H	23522	17582	OMIM:603736	Ohdo syndrome, sbbys variant	.		141
HP:0001627	HP:0001629	Ventricular septal defect	3	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0001627	HP:0001631	Atrial septal defect	3	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0001627	HP:0001631	Atrial septal defect	3	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional		10
HP:0001627	HP:0001655	Patent foramen ovale	3	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional		10
HP:0001627	HP:0001696	Situs inversus totalis	3	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001629	Ventricular septal defect	3	KCNA1 CL E G H	3736	6218	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		145
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001710	Conotruncal defect	3	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome			1
HP:0001627	HP:0001631	Atrial septal defect	3	KCNH1 CL E G H	3756	6250	OMIM:611816	Temple-Baraitser syndrome			13
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	KCNJ11 CL E G H	3767	6257	ORPHA:276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	HP:0040283 - Occasional		127
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	KCNJ2 CL E G H	3759	6263	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional		193
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	KCNJ5 CL E G H	3762	6266	ORPHA:37553	Andersen-Tawil syndrome	HP:0040283 - Occasional		128
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	KCNJ5 CL E G H	3762	6266	ORPHA:251274	Familial hyperaldosteronism type III	HP:0040283 - Occasional		128
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	KCNJ8 CL E G H	3764	6269	ORPHA:1517	Hypertrichotic osteochondrodysplasia, Cantu type	HP:0040283 - Occasional		23
HP:0001627	HP:0001631	Atrial septal defect	3	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome			3
HP:0001627	HP:0001655	Patent foramen ovale	3	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0001627	HP:0001629	Ventricular septal defect	3	KDM3B CL E G H	51780	1337	OMIM:618846	DIETS-JONGMANS SYNDROME; DIJOS
HP:0001627	HP:0001631	Atrial septal defect	3	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65	.		2
HP:0001627	HP:0001684	Secundum atrial septal defect	3	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0001627	HP:0001629	Ventricular septal defect	3	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.		53
HP:0001627	HP:0001631	Atrial septal defect	3	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1	.		53
HP:0001627	HP:0001631	Atrial septal defect	3	KDM6A CL E G H	7403	12637	OMIM:300867	Kabuki syndrome 2	HP:0040283 - Occasional		53
HP:0001627	HP:0001710	Conotruncal defect	3	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot			40
HP:0001627	HP:0001696	Situs inversus totalis	3	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		24
HP:0001627	HP:0001631	Atrial septal defect	3	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.		24
HP:0001627	HP:0001631	Atrial septal defect	3	KIF11 CL E G H	3832	6388	ORPHA:2526	Microcephaly-lymphedema-chorioretinopathy syndrome	HP:0040283 - Occasional		46
HP:0001627	HP:0001631	Atrial septal defect	3	KIF15 CL E G H	56992	17273	ORPHA:261323	21q22.11q22.12 microdeletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001723	Restrictive cardiomyopathy	3	KIF20A CL E G H	10112	9787	OMIM:619433	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 6; RCM6
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional
HP:0001627	HP:0030718	Right atrial enlargement	3	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent
HP:0001627	HP:0031295	Left atrial enlargement	3	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent
HP:0001627	HP:0031329	Interstitial cardiac fibrosis	3	KIF20A CL E G H	10112	9787	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0001627	HP:0005148	Pulmonary valve defects	3	KIF7 CL E G H	374654	30497	OMIM:200990	Acrocallosal syndrome	.		167
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	KLF1 CL E G H	10661	6345	OMIM:613673	Anemia, dyserythropoietic congenital, type IV	HP:0040283 - Occasional		42
HP:0001627	HP:0001629	Ventricular septal defect	3	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.		660
HP:0001627	HP:0001631	Atrial septal defect	3	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1	.		660
HP:0001627	HP:0001631	Atrial septal defect	3	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		196
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional		196
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2			196
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis			196
HP:0001627	HP:0001629	Ventricular septal defect	3	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0001627	HP:0001631	Atrial septal defect	3	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0001627	HP:0001655	Patent foramen ovale	3	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0001627	HP:0001631	Atrial septal defect	3	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.		196
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	KRAS CL E G H	3845	6407	OMIM:600268	Oculoectodermal syndrome	.		196
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	LAMA3 CL E G H	3909	6483	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		116
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	LAMA4 CL E G H	3910	6484	OMIM:615235	Cardiomyopathy, dilated, 1jj	.		279
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	LAMA4 CL E G H	3910	6484	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		279
HP:0001627	HP:0001631	Atrial septal defect	3	LAMA5 CL E G H	3911	6485	OMIM:620076				5
HP:0001627	HP:0001667	Right ventricular hypertrophy	3	LAMB2 CL E G H	3913	6487	ORPHA:98915	Synaptic congenital myasthenic syndromes	HP:0040284 - Very rare		92
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	LAMB3 CL E G H	3914	6490	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		167
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	LAMC2 CL E G H	3918	6493	ORPHA:79404	Severe generalized junctional epidermolysis bullosa	HP:0040283 - Occasional		135
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease	.		211
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	LAMP2 CL E G H	3920	6501	OMIM:300257	Danon disease	.		211
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	LAMP2 CL E G H	3920	6501	ORPHA:34587	Glycogen storage disease due to LAMP-2 deficiency	HP:0040281 - Very frequent		211
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	LAMP2 CL E G H	3920	6501	ORPHA:34587	Glycogen storage disease due to LAMP-2 deficiency	HP:0040281 - Very frequent		211
HP:0001627	HP:0001631	Atrial septal defect	3	LARP7 CL E G H	51574	24912	ORPHA:319671	Alazami syndrome	HP:0040283 - Occasional		16
HP:0001627	HP:0001629	Ventricular septal defect	3	LARS2 CL E G H	23395	17095	OMIM:617021	Hydrops, lactic acidosis, and sideroblastic anemia	.		54
HP:0001627	HP:0001629	Ventricular septal defect	3	LBR CL E G H	3930	6518	OMIM:169400	Pelger-Huet anomaly			70
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction	.		286
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction	HP:0040283 - Occasional		286
HP:0001627	HP:0031192	Abnormal morphology of left ventricular trabeculae	3	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction			286
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	LDB3 CL E G H	11155	15710	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		286
HP:0001627	HP:0005144	Ventricular septal hypertrophy	3	LEMD2 CL E G H	221496	21244	OMIM:619322	MARBACH-RUSTAD PROGEROID SYNDROME; MARUPS			1
HP:0001627	HP:0001629	Ventricular septal defect	3	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.		2
HP:0001627	HP:0001631	Atrial septal defect	3	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0001627	HP:0001631	Atrial septal defect	3	LETM1 CL E G H	3954	6556	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		2
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	LIAS CL E G H	11019	16429	OMIM:614462	Hyperglycinemia, lactic acidosis, and seizures	.		31
HP:0001627	HP:0001629	Ventricular septal defect	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001631	Atrial septal defect	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	LIMS2 CL E G H	55679	16084	OMIM:616827	Muscular dystrophy, limb-girdle, type 2W			10
HP:0001627	HP:0001629	Ventricular septal defect	3	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		21
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		21
HP:0001627	HP:0001631	Atrial septal defect	3	LMBRD1 CL E G H	55788	23038	OMIM:277380	Methylmalonic aciduria and homocystinuria, Cblf type			46
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome			645
HP:0001627	HP:0004380	Aortic valve calcification	3	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040281 - Very frequent		645
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare		645
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	LMNA CL E G H	4000	6636	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		645
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	LMNA CL E G H	4000	6636	ORPHA:98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	HP:0040282 - Frequent		645
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	LMNA CL E G H	4000	6636	ORPHA:280365	Autosomal semi-dominant severe lipodystrophic laminopathy	HP:0040283 - Occasional		645
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	LMNA CL E G H	4000	6636	OMIM:115200	Cardiomyopathy, dilated, 1A			645
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	LMNA CL E G H	4000	6636	ORPHA:2229	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	HP:0040281 - Very frequent		645
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant	.		645
HP:0001627	HP:0031329	Interstitial cardiac fibrosis	3	LMNA CL E G H	4000	6636	OMIM:181350	Emery-Dreifuss muscular dystrophy 2, autosomal dominant			645
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	LMNA CL E G H	4000	6636	ORPHA:300751	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	HP:0040281 - Very frequent		645
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	LMNA CL E G H	4000	6636	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		645
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	LMNA CL E G H	4000	6636	ORPHA:2348	Familial partial lipodystrophy, Dunnigan type	HP:0040283 - Occasional		645
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	LMNA CL E G H	4000	6636	OMIM:610140	Heart-hand syndrome, Slovenian type	.		645
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	LMNA CL E G H	4000	6636	ORPHA:168796	Heart-hand syndrome, Slovenian type	HP:0040281 - Very frequent		645
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent		645
HP:0001627	HP:0004380	Aortic valve calcification	3	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		645
HP:0001627	HP:0004382	Mitral valve calcification	3	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		645
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome			645
HP:0001627	HP:0004382	Mitral valve calcification	3	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent		645
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	LMNA CL E G H	4000	6636	OMIM:212112	Malouf syndrome	.		645
HP:0001627	HP:0001631	Atrial septal defect	3	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		645
HP:0001627	HP:0001669	Transposition of the great arteries	3	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		645
HP:0001627	HP:0001631	Atrial septal defect	3	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0001627	HP:0001655	Patent foramen ovale	3	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0001627	HP:0031295	Left atrial enlargement	3	LMOD2 CL E G H	442721	6648	OMIM:619897
HP:0001627	HP:0001629	Ventricular septal defect	3	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome	.		8
HP:0001627	HP:0001629	Ventricular septal defect	3	LONP1 CL E G H	9361	9479	ORPHA:1458	CODAS syndrome	HP:0040283 - Occasional		8
HP:0001627	HP:0001631	Atrial septal defect	3	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome			8
HP:0001627	HP:0001629	Ventricular septal defect	3	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional		8
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10			6
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			6
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	LRP12 CL E G H	29967	31708	OMIM:164310	Oculopharyngodistal myopathy 1
HP:0001627	HP:0001629	Ventricular septal defect	3	LRP2 CL E G H	4036	6694	OMIM:222448	Donnai-Barrow syndrome			289
HP:0001627	HP:0001629	Ventricular septal defect	3	LRP2 CL E G H	4036	6694	ORPHA:2143	Donnai-Barrow syndrome	HP:0040283 - Occasional		289
HP:0001627	HP:0001629	Ventricular septal defect	3	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome	.		125
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040282 - Frequent		191
HP:0001627	HP:0001710	Conotruncal defect	3	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0001627	HP:0001669	Transposition of the great arteries	3	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001696	Situs inversus totalis	3	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011539	Atrial situs ambiguous	3	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare
HP:0001627	HP:0001629	Ventricular septal defect	3	LTBP2 CL E G H	4053	6715	ORPHA:3449	Weill-Marchesani syndrome	HP:0040283 - Occasional		123
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature			12
HP:0001627	HP:0001631	Atrial septal defect	3	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC			92
HP:0001627	HP:0001655	Patent foramen ovale	3	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.		92
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0001627	HP:0001696	Situs inversus totalis	3	LZTFL1 CL E G H	54585	6741	OMIM:615994	BARDET-BIEDL SYNDROME 17; BBS17			4
HP:0001627	HP:0001629	Ventricular septal defect	3	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0001627	HP:0001631	Atrial septal defect	3	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0001627	HP:0001629	Ventricular septal defect	3	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0001627	HP:0001631	Atrial septal defect	3	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	LZTR1 CL E G H	8216	6742	OMIM:605275	Noonan syndrome 2			43
HP:0001627	HP:0001629	Ventricular septal defect	3	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation			2
HP:0001627	HP:0001631	Atrial septal defect	3	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1
HP:0001627	HP:0001710	Conotruncal defect	3	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0001627	HP:0001631	Atrial septal defect	3	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040283 - Occasional		63
HP:0001627	HP:0001631	Atrial septal defect	3	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		134
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional		134
HP:0001627	HP:0001629	Ventricular septal defect	3	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0001627	HP:0001631	Atrial septal defect	3	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MAP2K1 CL E G H	5604	6840	OMIM:615279	Cardiofaciocutaneous syndrome 3			134
HP:0001627	HP:0001629	Ventricular septal defect	3	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1	.		134
HP:0001627	HP:0001631	Atrial septal defect	3	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MAP2K1 CL E G H	5604	6840	OMIM:163950	Noonan syndrome 1			134
HP:0001627	HP:0001631	Atrial septal defect	3	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040281 - Very frequent		178
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional		178
HP:0001627	HP:0005144	Ventricular septal hypertrophy	3	MAP2K2 CL E G H	5605	6842	OMIM:615280	Cardiofaciocutaneous syndrome 4			178
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MAP2K2 CL E G H	5605	6842	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent		178
HP:0001627	HP:0001648	Cor pulmonale	3	MAP3K20 CL E G H	51776	17797	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		2
HP:0001627	HP:0001629	Ventricular septal defect	3	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0001627	HP:0001631	Atrial septal defect	3	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	MAP3K7 CL E G H	6885	6859	ORPHA:3238	Cardiospondylocarpofacial syndrome			11
HP:0001627	HP:0001655	Patent foramen ovale	3	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0001627	HP:0001631	Atrial septal defect	3	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0001627	HP:0001655	Patent foramen ovale	3	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.		11
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2			11
HP:0001627	HP:0001629	Ventricular septal defect	3	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0001627	HP:0001631	Atrial septal defect	3	MAPK1 CL E G H	5594	6871	ORPHA:261330	Distal 22q11.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0001627	HP:0001631	Atrial septal defect	3	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0001627	HP:0001631	Atrial septal defect	3	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0001627	HP:0001710	Conotruncal defect	3	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0001627	HP:0011554	Double inlet atrioventricular connection	3	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0001627	HP:0011555	Double inlet left ventricle	3	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0001627	HP:0001629	Ventricular septal defect	3	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.		21
HP:0001627	HP:0001631	Atrial septal defect	3	MASP1 CL E G H	5648	6901	OMIM:257920	3mc syndrome 1	.		21
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			13
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MC2R CL E G H	4158	6930	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare		94
HP:0001627	HP:0001669	Transposition of the great arteries	3	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		13
HP:0001627	HP:0001696	Situs inversus totalis	3	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		13
HP:0001627	HP:0001710	Conotruncal defect	3	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0001627	HP:0011539	Atrial situs ambiguous	3	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		13
HP:0001627	HP:0001723	Restrictive cardiomyopathy	3	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001627	HP:0030718	Right atrial enlargement	3	MCM10 CL E G H	55388	18043	OMIM:619313	IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY; IMD80
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0001627	HP:0001710	Conotruncal defect	3	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0001627	HP:0011560	Mitral atresia	3	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040283 - Occasional		3
HP:0001627	HP:0011651	Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis	3	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040283 - Occasional		3
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0001627	HP:0001631	Atrial septal defect	3	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent		228
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0001627	HP:0001629	Ventricular septal defect	3	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0001627	HP:0001631	Atrial septal defect	3	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0001627	HP:0001655	Patent foramen ovale	3	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0001627	HP:0001629	Ventricular septal defect	3	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.		228
HP:0001627	HP:0001631	Atrial septal defect	3	MED12 CL E G H	9968	11957	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent		228
HP:0001627	HP:0001631	Atrial septal defect	3	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.		228
HP:0001627	HP:0001629	Ventricular septal defect	3	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional		74
HP:0001627	HP:0001631	Atrial septal defect	3	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency			74
HP:0001627	HP:0001655	Patent foramen ovale	3	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional		74
HP:0001627	HP:0001631	Atrial septal defect	3	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects			74
HP:0001627	HP:0001655	Patent foramen ovale	3	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects	.		74
HP:0001627	HP:0001669	Transposition of the great arteries	3	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects	HP:0040283 - Occasional		74
HP:0001627	HP:0001629	Ventricular septal defect	3	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18			25
HP:0001627	HP:0001631	Atrial septal defect	3	MED23 CL E G H	9439	2372	OMIM:614249	Mental retardation, autosomal recessive 18			25
HP:0001627	HP:0001629	Ventricular septal defect	3	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional		43
HP:0001627	HP:0001631	Atrial septal defect	3	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional		43
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	MEFV CL E G H	4210	6998	OMIM:608068	NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE			281
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	MEFV CL E G H	4210	6998	ORPHA:3243	Sweet syndrome	HP:0040284 - Very rare		281
HP:0001627	HP:0001629	Ventricular septal defect	3	MEG3 CL E G H	55384	14575	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional		1
HP:0001627	HP:0001629	Ventricular septal defect	3	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0001627	HP:0001631	Atrial septal defect	3	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional		1
HP:0001627	HP:0001631	Atrial septal defect	3	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	HP:0040283 - Occasional		13
HP:0001627	HP:0001669	Transposition of the great arteries	3	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2			13
HP:0001627	HP:0001696	Situs inversus totalis	3	MEGF8 CL E G H	1954	3233	OMIM:614976	Carpenter syndrome 2	HP:0040283 - Occasional		13
HP:0001627	HP:0001629	Ventricular septal defect	3	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040283 - Occasional		7
HP:0001627	HP:0001631	Atrial septal defect	3	MEIS2 CL E G H	4212	7001	ORPHA:261190	15q14 microdeletion syndrome	HP:0040283 - Occasional		7
HP:0001627	HP:0001629	Ventricular septal defect	3	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.		7
HP:0001627	HP:0001631	Atrial septal defect	3	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation	.		7
HP:0001627	HP:0001684	Secundum atrial septal defect	3	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent		462
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	MEN1 CL E G H	4221	7010	ORPHA:99725	Pituitary gigantism	HP:0040281 - Very frequent		462
HP:0001627	HP:0001629	Ventricular septal defect	3	MEOX1 CL E G H	4222	7013	ORPHA:2345	Isolated Klippel-Feil syndrome	HP:0040283 - Occasional		5
HP:0001627	HP:0001629	Ventricular septal defect	3	MEOX1 CL E G H	4222	7013	OMIM:214300	Klippel-Feil syndrome, autosomal recessive	.		5
HP:0001627	HP:0001629	Ventricular septal defect	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001631	Atrial septal defect	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001710	Conotruncal defect	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001631	Atrial septal defect	3	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0001627	HP:0001684	Secundum atrial septal defect	3	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	MFAP5 CL E G H	8076	29673	OMIM:616166	AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9			11
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			11
HP:0001627	HP:0001629	Ventricular septal defect	3	MGAT2 CL E G H	4247	7045	OMIM:212066	Congenital disorder of glycosylation, type IIa	.		39
HP:0001627	HP:0001629	Ventricular septal defect	3	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040283 - Occasional		39
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	MGME1 CL E G H	92667	16205	OMIM:615084	Mitochondrial DNA depletion syndrome 11	HP:0040283 - Occasional		11
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	MGME1 CL E G H	92667	16205	ORPHA:352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	HP:0040282 - Frequent		11
HP:0001627	HP:0001629	Ventricular septal defect	3	MGP CL E G H	4256	7060	OMIM:245150	Keutel syndrome	.		33
HP:0001627	HP:0001629	Ventricular septal defect	3	MGP CL E G H	4256	7060	ORPHA:85202	Keutel syndrome	HP:0040282 - Frequent		33
HP:0001627	HP:0012817	Noncompaction cardiomyopathy	3	MIB1 CL E G H	57534	21086	OMIM:615092	Left ventricular noncompaction 7			28
HP:0001627	HP:0031192	Abnormal morphology of left ventricular trabeculae	3	MIB1 CL E G H	57534	21086	OMIM:615092	Left ventricular noncompaction 7			28
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0001627	HP:0001629	Ventricular septal defect	3	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0001627	HP:0001629	Ventricular septal defect	3	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional		57
HP:0001627	HP:0001631	Atrial septal defect	3	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional		57
HP:0001627	HP:0001655	Patent foramen ovale	3	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional		57
HP:0001627	HP:0001629	Ventricular septal defect	3	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I			57
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31	.		7
HP:0001627	HP:0031192	Abnormal morphology of left ventricular trabeculae	3	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31			7
HP:0001627	HP:0001629	Ventricular septal defect	3	MIR17HG CL E G H	407975	23564	ORPHA:391646	Feingold syndrome type 2	HP:0040283 - Occasional		1
HP:0001627	HP:0001629	Ventricular septal defect	3	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040283 - Occasional		69
HP:0001627	HP:0001631	Atrial septal defect	3	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040283 - Occasional		69
HP:0001627	HP:0001710	Conotruncal defect	3	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome			69
HP:0001627	HP:0001696	Situs inversus totalis	3	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		127
HP:0001627	HP:0001696	Situs inversus totalis	3	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		127
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent
HP:0001627	HP:0001629	Ventricular septal defect	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001631	Atrial septal defect	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001710	Conotruncal defect	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome			1
HP:0001627	HP:0001629	Ventricular septal defect	3	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0001627	HP:0001631	Atrial septal defect	3	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0001627	HP:0012817	Noncompaction cardiomyopathy	3	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040283 - Occasional		101
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	MMP1 CL E G H	4312	7155	ORPHA:79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	HP:0040283 - Occasional		6
HP:0001627	HP:0001629	Ventricular septal defect	3	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional		2
HP:0001627	HP:0001631	Atrial septal defect	3	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional		2
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0001627	HP:0001710	Conotruncal defect	3	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			2
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0001627	HP:0001629	Ventricular septal defect	3	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional		64
HP:0001627	HP:0001631	Atrial septal defect	3	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional		64
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0001627	HP:0001710	Conotruncal defect	3	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum			64
HP:0001627	HP:0001631	Atrial septal defect	3	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0001627	HP:0001669	Transposition of the great arteries	3	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0001627	HP:0001696	Situs inversus totalis	3	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0001627	HP:0004762	Hypoplasia of right ventricle	3	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0001627	HP:0011560	Mitral atresia	3	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0001627	HP:0001696	Situs inversus totalis	3	MNS1 CL E G H	55329	29636	OMIM:618948	HETEROTAXY, VISCERAL, 9, AUTOSOMAL, WITH MALE INFERTILITY; HTX9
HP:0001627	HP:0001631	Atrial septal defect	3	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional		37
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	MOGS CL E G H	7841	24862	ORPHA:79330	MOGS-CDG	HP:0040283 - Occasional		37
HP:0001627	HP:0001629	Ventricular septal defect	3	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		9
HP:0001627	HP:0001629	Ventricular septal defect	3	MPLKIP CL E G H	136647	16002	OMIM:234050	Trichothiodystrophy 4, nonphotosensitive	HP:0040283 - Occasional		9
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MRAP CL E G H	56246	1304	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare		26
HP:0001627	HP:0001631	Atrial septal defect	3	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MRAS CL E G H	22808	7227	OMIM:618499	NOONAN SYNDROME 11; NS11
HP:0001627	HP:0001631	Atrial septal defect	3	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0001627	HP:0001655	Patent foramen ovale	3	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MRPL44 CL E G H	65080	16650	OMIM:615395	Combined oxidative phosphorylation deficiency 16	.		13
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MRPS14 CL E G H	63931	14049	OMIM:618378	Combined oxidative phosphorylation deficiency 38	.
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MRPS22 CL E G H	56945	14508	OMIM:611719	Combined oxidative phosphorylation deficiency 5	.		25
HP:0001627	HP:0001696	Situs inversus totalis	3	MSX1 CL E G H	4487	7391	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		12
HP:0001627	HP:0001629	Ventricular septal defect	3	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15	HP:0040283 - Occasional		29
HP:0001627	HP:0005144	Ventricular septal hypertrophy	3	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15	HP:0040284 - Very rare		29
HP:0001627	HP:0001629	Ventricular septal defect	3	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		29
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		29
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MTO1 CL E G H	25821	19261	OMIM:614702	Combined oxidative phosphorylation deficiency 10	.		39
HP:0001627	HP:0001631	Atrial septal defect	3	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001627	HP:0001655	Patent foramen ovale	3	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001627	HP:0004382	Mitral valve calcification	3	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001627	HP:0001629	Ventricular septal defect	3	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4			1143
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4	.		1143
HP:0001627	HP:0005144	Ventricular septal hypertrophy	3	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4	.		1143
HP:0001627	HP:0030718	Right atrial enlargement	3	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4			1143
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	MYBPC3 CL E G H	4607	7551	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		1143
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10	.		1143
HP:0001627	HP:0031192	Abnormal morphology of left ventricular trabeculae	3	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10			1143
HP:0001627	HP:0001629	Ventricular septal defect	3	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0001627	HP:0001629	Ventricular septal defect	3	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1			35
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1			35
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4			418
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			418
HP:0001627	HP:0001631	Atrial septal defect	3	MYH6 CL E G H	4624	7576	OMIM:614089	ATRIAL SEPTAL DEFECT 3; ASD3			452
HP:0001627	HP:0001684	Secundum atrial septal defect	3	MYH6 CL E G H	4624	7576	OMIM:614089	ATRIAL SEPTAL DEFECT 3; ASD3			452
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		452
HP:0001627	HP:0005133	Right ventricular dilatation	3	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		452
HP:0001627	HP:0030718	Right atrial enlargement	3	MYH6 CL E G H	4624	7576	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		452
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	MYH6 CL E G H	4624	7576	OMIM:613252	Cardiomyopathy, dilated, 1ee	.		452
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MYH6 CL E G H	4624	7576	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			452
HP:0001627	HP:0011103	Abnormal left ventricular outflow tract morphology	3	MYH6 CL E G H	4624	7576	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			452
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MYH6 CL E G H	4624	7576	OMIM:613251	Cardiomyopathy, familial hypertrophic, 14	.		452
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	MYH6 CL E G H	4624	7576	OMIM:613251	Cardiomyopathy, familial hypertrophic, 14			452
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	MYH6 CL E G H	4624	7576	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		452
HP:0001627	HP:0001629	Ventricular septal defect	3	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S	.		1269
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0001627	HP:0031192	Abnormal morphology of left ventricular trabeculae	3	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0001627	HP:0031329	Interstitial cardiac fibrosis	3	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MYH7 CL E G H	4625	7577	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			1269
HP:0001627	HP:0011103	Abnormal left ventricular outflow tract morphology	3	MYH7 CL E G H	4625	7577	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			1269
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy			1269
HP:0001627	HP:0001667	Right ventricular hypertrophy	3	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040283 - Occasional		1269
HP:0001627	HP:0001631	Atrial septal defect	3	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve	HP:0040281 - Very frequent		1269
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve			1269
HP:0001627	HP:0011574	Imperforate atrioventricular valve	3	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve			1269
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	MYH7 CL E G H	4625	7577	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		1269
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	MYH7 CL E G H	4625	7577	ORPHA:59135	Laing early-onset distal myopathy	HP:0040283 - Occasional		1269
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	MYH7 CL E G H	4625	7577	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1269
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1	HP:0040283 - Occasional		1269
HP:0001627	HP:0031295	Left atrial enlargement	3	MYH7 CL E G H	4625	7577	OMIM:160500	Myopathy, distal, 1			1269
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive	.		1269
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive	.		1269
HP:0001627	HP:0200128	Biventricular hypertrophy	3	MYH7 CL E G H	4625	7577	OMIM:255160	Myopathy, myosin storage, autosomal recessive			1269
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10	.		131
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10	.		131
HP:0001627	HP:0005144	Ventricular septal hypertrophy	3	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10	.		131
HP:0001627	HP:0001648	Cor pulmonale	3	MYL2 CL E G H	4633	7583	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		131
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0001627	HP:0001723	Restrictive cardiomyopathy	3	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0001627	HP:0200128	Biventricular hypertrophy	3	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0001627	HP:0012817	Noncompaction cardiomyopathy	3	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0001627	HP:0030718	Right atrial enlargement	3	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0001627	HP:0031295	Left atrial enlargement	3	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8			95
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8	.		95
HP:0001627	HP:0001723	Restrictive cardiomyopathy	3	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8			95
HP:0001627	HP:0031295	Left atrial enlargement	3	MYL3 CL E G H	4634	7584	OMIM:608751	Cardiomyopathy, familial hypertrophic, 8	.		95
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			326
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MYLK2 CL E G H	85366	16243	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			124
HP:0001627	HP:0011103	Abnormal left ventricular outflow tract morphology	3	MYLK2 CL E G H	85366	16243	OMIM:192600	Cardiomyopathy, familial hypertrophic 1			124
HP:0001627	HP:0001629	Ventricular septal defect	3	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL			3
HP:0001627	HP:0001631	Atrial septal defect	3	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL			3
HP:0001627	HP:0012817	Noncompaction cardiomyopathy	3	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL			3
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL			3
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16			81
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16	.		81
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy			217
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MYPN CL E G H	84665	23246	OMIM:615248	Cardiomyopathy, dilated, 1kk	HP:0040283 - Occasional		217
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	MYPN CL E G H	84665	23246	OMIM:615248	Cardiomyopathy, dilated, 1kk	HP:0040283 - Occasional		217
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	MYPN CL E G H	84665	23246	OMIM:615248	Cardiomyopathy, dilated, 1kk	HP:0040283 - Occasional		217
HP:0001627	HP:0005144	Ventricular septal hypertrophy	3	MYPN CL E G H	84665	23246	OMIM:615248	Cardiomyopathy, dilated, 1kk	HP:0040284 - Very rare		217
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	MYPN CL E G H	84665	23246	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		217
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		217
HP:0001627	HP:0030718	Right atrial enlargement	3	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent		217
HP:0001627	HP:0031295	Left atrial enlargement	3	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent		217
HP:0001627	HP:0031329	Interstitial cardiac fibrosis	3	MYPN CL E G H	84665	23246	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent		217
HP:0001627	HP:0001629	Ventricular septal defect	3	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	.		2
HP:0001627	HP:0001631	Atrial septal defect	3	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	.		2
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0001627	HP:0001710	Conotruncal defect	3	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0001627	HP:0200128	Biventricular hypertrophy	3	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0001627	HP:0031134	Cor triatrium sinister	3	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0001627	HP:0031298	Coronary sinus enlargement	3	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome			2
HP:0001627	HP:0012817	Noncompaction cardiomyopathy	3	MYSM1 CL E G H	114803	29401	ORPHA:508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	HP:0040283 - Occasional
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1			23
HP:0001627	HP:0001629	Ventricular septal defect	3	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.		23
HP:0001627	HP:0001629	Ventricular septal defect	3	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional		23
HP:0001627	HP:0001631	Atrial septal defect	3	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome	.		23
HP:0001627	HP:0001655	Patent foramen ovale	3	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001627	HP:0001684	Secundum atrial septal defect	3	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001627	HP:0031295	Left atrial enlargement	3	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001627	HP:0001629	Ventricular septal defect	3	NAA20 CL E G H	51126	15908	OMIM:619717	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73; MRT73
HP:0001627	HP:0001710	Conotruncal defect	3	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NAGA CL E G H	4668	7631	ORPHA:79279	Alpha-N-acetylgalactosaminidase deficiency type 1	HP:0040283 - Occasional		47
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NAGA CL E G H	4668	7631	ORPHA:79281	Alpha-N-acetylgalactosaminidase deficiency type 3	HP:0040282 - Frequent		47
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB			72
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0001627	HP:0001631	Atrial septal defect	3	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome			2
HP:0001627	HP:0001655	Patent foramen ovale	3	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.		2
HP:0001627	HP:0001629	Ventricular septal defect	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0001627	HP:0001631	Atrial septal defect	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0001627	HP:0001710	Conotruncal defect	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome			13
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	ND1 CL E G H	4535	7455	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	ND5 CL E G H	4540	7461	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	ND6 CL E G H	4541	7462	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001627	HP:0001631	Atrial septal defect	3	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional		96
HP:0001627	HP:0001655	Patent foramen ovale	3	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional		96
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		7
HP:0001627	HP:0001629	Ventricular septal defect	3	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		91
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		91
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFA10 CL E G H	4705	7684	OMIM:618243	Mitochondrial complex I deficiency, nuclear type 22	.		91
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		32
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14	HP:0040284 - Very rare		32
HP:0001627	HP:0200128	Biventricular hypertrophy	3	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14			32
HP:0001627	HP:0001629	Ventricular septal defect	3	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		7
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		7
HP:0001627	HP:0001629	Ventricular septal defect	3	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		3
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		3
HP:0001627	HP:0001629	Ventricular septal defect	3	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		19
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		19
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFA2 CL E G H	4695	7685	OMIM:618235	Mitochondrial complex I deficiency, nuclear type 13	.		19
HP:0001627	HP:0001629	Ventricular septal defect	3	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		4
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		4
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0001627	HP:0001629	Ventricular septal defect	3	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		40
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFAF1 CL E G H	51103	18828	OMIM:618234	Mitochondrial complex I deficiency, nuclear type 11	.		40
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		26
HP:0001627	HP:0001629	Ventricular septal defect	3	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		26
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		26
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		31
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		31
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		31
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		50
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFAF4 CL E G H	29078	21034	OMIM:618237	Mitochondrial complex I deficiency, nuclear type 15	HP:0040284 - Very rare		50
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		34
HP:0001627	HP:0001629	Ventricular septal defect	3	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		34
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		34
HP:0001627	HP:0001629	Ventricular septal defect	3	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		39
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		39
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		3
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	NDUFB11 CL E G H	54539	20372	OMIM:300952	Linear skin defects with multiple congenital anomalies 3	.		3
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		3
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent		3
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0001627	HP:0001629	Ventricular septal defect	3	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.		3
HP:0001627	HP:0001631	Atrial septal defect	3	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.		3
HP:0001627	HP:0005152	Histiocytoid cardiomyopathy	3	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.		3
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		9
HP:0001627	HP:0001629	Ventricular septal defect	3	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001627	HP:0001631	Atrial septal defect	3	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		16
HP:0001627	HP:0001629	Ventricular septal defect	3	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		81
HP:0001627	HP:0001629	Ventricular septal defect	3	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		81
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		81
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		65
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		65
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		65
HP:0001627	HP:0001629	Ventricular septal defect	3	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		65
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		65
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6	.		65
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		22
HP:0001627	HP:0001629	Ventricular septal defect	3	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		22
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		22
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0001627	HP:0001629	Ventricular septal defect	3	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		21
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		38
HP:0001627	HP:0001629	Ventricular septal defect	3	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		38
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		38
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		42
HP:0001627	HP:0001629	Ventricular septal defect	3	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		42
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		42
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2	.		42
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		74
HP:0001627	HP:0001629	Ventricular septal defect	3	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		74
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		74
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0001627	HP:0001629	Ventricular septal defect	3	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NDUFV2 CL E G H	4729	7717	OMIM:618229	Mitochondrial complex I deficiency, nuclear type 7	HP:0040284 - Very rare		27
HP:0001627	HP:0001696	Situs inversus totalis	3	NECTIN1 CL E G H	5818	9706	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		4
HP:0001627	HP:0001629	Ventricular septal defect	3	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	HP:0040283 - Occasional		101
HP:0001627	HP:0001631	Atrial septal defect	3	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	HP:0040283 - Occasional		101
HP:0001627	HP:0001669	Transposition of the great arteries	3	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001696	Situs inversus totalis	3	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011539	Atrial situs ambiguous	3	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	.		43
HP:0001627	HP:0001696	Situs inversus totalis	3	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2	HP:0040283 - Occasional		43
HP:0001627	HP:0001629	Ventricular septal defect	3	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy	.		9
HP:0001627	HP:0001631	Atrial septal defect	3	NEK9 CL E G H	91754	18591	OMIM:614262	Arthrogryposis, perthes disease, and upward gaze palsy	.		9
HP:0001627	HP:0001629	Ventricular septal defect	3	NEK9 CL E G H	91754	18591	OMIM:617022	Lethal congenital contracture syndrome 10	.		9
HP:0001627	HP:0001631	Atrial septal defect	3	NELFA CL E G H	7469	12768	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent
HP:0001627	HP:0001629	Ventricular septal defect	3	NEUROD2 CL E G H	4761	7763	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	NEXN CL E G H	91624	29557	OMIM:613122	Cardiomyopathy, dilated, 1cc	.	HP:0003581 - Adult onset	167
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NEXN CL E G H	91624	29557	OMIM:613876	Cardiomyopathy, familial hypertrophic, 20			167
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	NEXN CL E G H	91624	29557	OMIM:613876	Cardiomyopathy, familial hypertrophic, 20	.		167
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	NEXN CL E G H	91624	29557	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		167
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional		1952
HP:0001627	HP:0001629	Ventricular septal defect	3	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:0001627	HP:0001631	Atrial septal defect	3	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:0001627	HP:0001633	Abnormal mitral valve morphology	3	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	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:0001627	HP:0001655	Patent foramen ovale	3	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:0001627	HP:0001631	Atrial septal defect	3	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome			1952
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NF1 CL E G H	4763	7765	ORPHA:638	Neurofibromatosis-Noonan syndrome	HP:0040281 - Very frequent		1952
HP:0001627	HP:0001684	Secundum atrial septal defect	3	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome	.		1952
HP:0001627	HP:0001631	Atrial septal defect	3	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia	HP:0040284 - Very rare		20
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia			20
HP:0001627	HP:0001629	Ventricular septal defect	3	NFIX CL E G H	4784	7788	ORPHA:447980	19p13.3 microduplication syndrome	HP:0040283 - Occasional		40
HP:0001627	HP:0001629	Ventricular septal defect	3	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0001627	HP:0001631	Atrial septal defect	3	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome	.		40
HP:0001627	HP:0005176	Dysplastic aortic valve	3	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NFS1 CL E G H	9054	15910	OMIM:619386	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 52; COXPD52			5
HP:0001627	HP:0001629	Ventricular septal defect	3	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare		117
HP:0001627	HP:0001631	Atrial septal defect	3	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare		117
HP:0001627	HP:0001710	Conotruncal defect	3	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome			117
HP:0001627	HP:0001629	Ventricular septal defect	3	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare		1
HP:0001627	HP:0001631	Atrial septal defect	3	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare		1
HP:0001627	HP:0001710	Conotruncal defect	3	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome			1
HP:0001627	HP:0001629	Ventricular septal defect	3	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		494
HP:0001627	HP:0001631	Atrial septal defect	3	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		494
HP:0001627	HP:0001629	Ventricular septal defect	3	NIPBL CL E G H	25836	28862	OMIM:122470	Cornelia de Lange syndrome 1	.		494
HP:0001627	HP:0001629	Ventricular septal defect	3	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0001627	HP:0001631	Atrial septal defect	3	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0001627	HP:0001629	Ventricular septal defect	3	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional		51
HP:0001627	HP:0001631	Atrial septal defect	3	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040283 - Occasional		51
HP:0001627	HP:0001655	Patent foramen ovale	3	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare		51
HP:0001627	HP:0001629	Ventricular septal defect	3	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0001627	HP:0001631	Atrial septal defect	3	NKX2-1 CL E G H	7080	11825	OMIM:610978	Choreoathetosis, hypothyroidism, and neonatal respiratory distress			51
HP:0001627	HP:0001629	Ventricular septal defect	3	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects	HP:0040283 - Occasional		90
HP:0001627	HP:0001631	Atrial septal defect	3	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects			90
HP:0001627	HP:0001684	Secundum atrial septal defect	3	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects	.		90
HP:0001627	HP:0001710	Conotruncal defect	3	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects			90
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects	HP:0040283 - Occasional		90
HP:0001627	HP:0011103	Abnormal left ventricular outflow tract morphology	3	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects			90
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		90
HP:0001627	HP:0005133	Right ventricular dilatation	3	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		90
HP:0001627	HP:0030718	Right atrial enlargement	3	NKX2-5 CL E G H	1482	2488	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		90
HP:0001627	HP:0001669	Transposition of the great arteries	3	NKX2-5 CL E G H	1482	2488	OMIM:217095	Conotruncal heart malformations	.		90
HP:0001627	HP:0001674	Complete atrioventricular canal defect	3	NKX2-5 CL E G H	1482	2488	OMIM:217095	Conotruncal heart malformations	.		90
HP:0001627	HP:0001710	Conotruncal defect	3	NKX2-5 CL E G H	1482	2488	OMIM:217095	Conotruncal heart malformations			90
HP:0001627	HP:0004380	Aortic valve calcification	3	NKX2-5 CL E G H	1482	2488	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent		90
HP:0001627	HP:0011103	Abnormal left ventricular outflow tract morphology	3	NKX2-5 CL E G H	1482	2488	ORPHA:402075	Familial bicuspid aortic valve	HP:0040284 - Very rare		90
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	NKX2-5 CL E G H	1482	2488	ORPHA:402075	Familial bicuspid aortic valve			90
HP:0001627	HP:0001631	Atrial septal defect	3	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional		90
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome			90
HP:0001627	HP:0011560	Mitral atresia	3	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional		90
HP:0001627	HP:0001629	Ventricular septal defect	3	NKX2-5 CL E G H	1482	2488	OMIM:614435	Hypoplastic left heart syndrome 2	.		90
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	NKX2-5 CL E G H	1482	2488	OMIM:614435	Hypoplastic left heart syndrome 2			90
HP:0001627	HP:0010883	Aortic valve atresia	3	NKX2-5 CL E G H	1482	2488	OMIM:614435	Hypoplastic left heart syndrome 2	.		90
HP:0001627	HP:0011560	Mitral atresia	3	NKX2-5 CL E G H	1482	2488	OMIM:614435	Hypoplastic left heart syndrome 2	.		90
HP:0001627	HP:0001710	Conotruncal defect	3	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot			90
HP:0001627	HP:0001710	Conotruncal defect	3	NKX2-5 CL E G H	1482	2488	OMIM:187500	Tetralogy of Fallot			90
HP:0001627	HP:0001629	Ventricular septal defect	3	NKX2-5 CL E G H	1482	2488	OMIM:614432	Ventricular septal defect 3	.		90
HP:0001627	HP:0001631	Atrial septal defect	3	NKX2-5 CL E G H	1482	2488	OMIM:614432	Ventricular septal defect 3	HP:0040283 - Occasional		90
HP:0001627	HP:0001669	Transposition of the great arteries	3	NKX2-6 CL E G H	137814	32940	OMIM:217095	Conotruncal heart malformations	.		3
HP:0001627	HP:0001674	Complete atrioventricular canal defect	3	NKX2-6 CL E G H	137814	32940	OMIM:217095	Conotruncal heart malformations	.		3
HP:0001627	HP:0001710	Conotruncal defect	3	NKX2-6 CL E G H	137814	32940	OMIM:217095	Conotruncal heart malformations			3
HP:0001627	HP:0001710	Conotruncal defect	3	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot			3
HP:0001627	HP:0001629	Ventricular septal defect	3	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040282 - Frequent		3
HP:0001627	HP:0001631	Atrial septal defect	3	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional		3
HP:0001627	HP:0001667	Right ventricular hypertrophy	3	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040282 - Frequent		3
HP:0001627	HP:0001669	Transposition of the great arteries	3	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040284 - Very rare		3
HP:0001627	HP:0001710	Conotruncal defect	3	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus			3
HP:0001627	HP:0001669	Transposition of the great arteries	3	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		50
HP:0001627	HP:0001696	Situs inversus totalis	3	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		50
HP:0001627	HP:0001710	Conotruncal defect	3	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0001627	HP:0011539	Atrial situs ambiguous	3	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		50
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NNT CL E G H	23530	7863	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare		13
HP:0001627	HP:0001629	Ventricular septal defect	3	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001627	HP:0001631	Atrial septal defect	3	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001627	HP:0001669	Transposition of the great arteries	3	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001627	HP:0001710	Conotruncal defect	3	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001627	HP:0011536	Right atrial isomerism	3	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001627	HP:0011554	Double inlet atrioventricular connection	3	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001627	HP:0011555	Double inlet left ventricle	3	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001627	HP:0001710	Conotruncal defect	3	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly			45
HP:0001627	HP:0001629	Ventricular septal defect	3	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional		10
HP:0001627	HP:0001631	Atrial septal defect	3	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional		10
HP:0001627	HP:0001655	Patent foramen ovale	3	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional		10
HP:0001627	HP:0001667	Right ventricular hypertrophy	3	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional		10
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome			10
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional		10
HP:0001627	HP:0001629	Ventricular septal defect	3	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0001627	HP:0001631	Atrial septal defect	3	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0001627	HP:0001655	Patent foramen ovale	3	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0001627	HP:0001667	Right ventricular hypertrophy	3	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0001627	HP:0012817	Noncompaction cardiomyopathy	3	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0001627	HP:0031192	Abnormal morphology of left ventricular trabeculae	3	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0001627	HP:0001710	Conotruncal defect	3	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0001627	HP:0001631	Atrial septal defect	3	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5			452
HP:0001627	HP:0001655	Patent foramen ovale	3	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	.		452
HP:0001627	HP:0001667	Right ventricular hypertrophy	3	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	.		452
HP:0001627	HP:0030718	Right atrial enlargement	3	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	.		452
HP:0001627	HP:0001629	Ventricular septal defect	3	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1	HP:0040284 - Very rare		452
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1			452
HP:0001627	HP:0001710	Conotruncal defect	3	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1			452
HP:0001627	HP:0004380	Aortic valve calcification	3	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1			452
HP:0001627	HP:0011560	Mitral atresia	3	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1	HP:0040284 - Very rare		452
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1			452
HP:0001627	HP:0004380	Aortic valve calcification	3	NOTCH1 CL E G H	4851	7881	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent		452
HP:0001627	HP:0011103	Abnormal left ventricular outflow tract morphology	3	NOTCH1 CL E G H	4851	7881	ORPHA:402075	Familial bicuspid aortic valve	HP:0040284 - Very rare		452
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	NOTCH1 CL E G H	4851	7881	ORPHA:402075	Familial bicuspid aortic valve			452
HP:0001627	HP:0001631	Atrial septal defect	3	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2	.		138
HP:0001627	HP:0001710	Conotruncal defect	3	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2			138
HP:0001627	HP:0001629	Ventricular septal defect	3	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional		138
HP:0001627	HP:0001629	Ventricular septal defect	3	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040283 - Occasional		144
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome			144
HP:0001627	HP:0001631	Atrial septal defect	3	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0001627	HP:0001667	Right ventricular hypertrophy	3	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0001627	HP:0001696	Situs inversus totalis	3	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7			157
HP:0001627	HP:0001631	Atrial septal defect	3	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	.		157
HP:0001627	HP:0001696	Situs inversus totalis	3	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia			157
HP:0001627	HP:0031295	Left atrial enlargement	3	NPPA CL E G H	4878	7939	OMIM:612201	Atrial fibrillation, familial, 6			13
HP:0001627	HP:0031192	Abnormal morphology of left ventricular trabeculae	3	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill			13
HP:0001627	HP:0200127	Atrial cardiomyopathy	3	NPPA CL E G H	4878	7939	OMIM:615745	Atrial standstill 2			13
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	NPR3 CL E G H	4883	7945	OMIM:619543	BOUDIN-MORTIER SYNDROME; BOMOS
HP:0001627	HP:0001629	Ventricular septal defect	3	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5			13
HP:0001627	HP:0001631	Atrial septal defect	3	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5			13
HP:0001627	HP:0001684	Secundum atrial septal defect	3	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5			13
HP:0001627	HP:0001629	Ventricular septal defect	3	NR2F2 CL E G H	7026	7976	OMIM:615779	Congenital heart defects, multiple types, 4	.		13
HP:0001627	HP:0001710	Conotruncal defect	3	NR2F2 CL E G H	7026	7976	OMIM:615779	Congenital heart defects, multiple types, 4			13
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NRAS CL E G H	4893	7989	OMIM:613224	Noonan syndrome 6			102
HP:0001627	HP:0001629	Ventricular septal defect	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		544
HP:0001627	HP:0001631	Atrial septal defect	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		544
HP:0001627	HP:0001629	Ventricular septal defect	3	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0001627	HP:0001631	Atrial septal defect	3	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0001627	HP:0001629	Ventricular septal defect	3	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.		118
HP:0001627	HP:0001631	Atrial septal defect	3	NSD2 CL E G H	7468	12766	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		118
HP:0001627	HP:0001631	Atrial septal defect	3	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		89
HP:0001627	HP:0001629	Ventricular septal defect	3	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7	HP:0040284 - Very rare		5
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	NUP107 CL E G H	57122	29914	OMIM:618348	Galloway-Mowat syndrome 7	HP:0040284 - Very rare		5
HP:0001627	HP:0001629	Ventricular septal defect	3	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11	HP:0040284 - Very rare		5
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	NUP107 CL E G H	57122	29914	OMIM:616730	Nephrotic syndrome, type 11	HP:0040284 - Very rare		5
HP:0001627	HP:0031295	Left atrial enlargement	3	NUP155 CL E G H	9631	8063	OMIM:615770	Atrial fibrillation, familial, 15			1
HP:0001627	HP:0001629	Ventricular septal defect	3	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0001627	HP:0001629	Ventricular septal defect	3	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		2
HP:0001627	HP:0001631	Atrial septal defect	3	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		2
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		2
HP:0001627	HP:0001710	Conotruncal defect	3	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome			2
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2			2
HP:0001627	HP:0001631	Atrial septal defect	3	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0001627	HP:0001655	Patent foramen ovale	3	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0001627	HP:0001696	Situs inversus totalis	3	ODAD1 CL E G H	93233	26560	OMIM:615067	Ciliary dyskinesia, primary, 20	HP:0040283 - Occasional
HP:0001627	HP:0001669	Transposition of the great arteries	3	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001696	Situs inversus totalis	3	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011539	Atrial situs ambiguous	3	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001696	Situs inversus totalis	3	ODAD2 CL E G H	55130	25583	OMIM:615451	CILIARY DYSKINESIA, PRIMARY, 23; CILD23
HP:0001627	HP:0001669	Transposition of the great arteries	3	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001696	Situs inversus totalis	3	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011539	Atrial situs ambiguous	3	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001629	Ventricular septal defect	3	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30
HP:0001627	HP:0001696	Situs inversus totalis	3	ODAD3 CL E G H	115948	28303	OMIM:616037	Ciliary dyskinesia, primary, 30	.
HP:0001627	HP:0001669	Transposition of the great arteries	3	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001696	Situs inversus totalis	3	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011539	Atrial situs ambiguous	3	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001696	Situs inversus totalis	3	ODAD4 CL E G H	83538	25280	OMIM:617092	Ciliary dyskinesia, primary, 35	HP:0040283 - Occasional
HP:0001627	HP:0001669	Transposition of the great arteries	3	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001696	Situs inversus totalis	3	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011539	Atrial situs ambiguous	3	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001669	Transposition of the great arteries	3	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		201
HP:0001627	HP:0001696	Situs inversus totalis	3	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		201
HP:0001627	HP:0001710	Conotruncal defect	3	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0001627	HP:0011539	Atrial situs ambiguous	3	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		201
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	OPA1 CL E G H	4976	8140	OMIM:616896	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14			214
HP:0001627	HP:0001629	Ventricular septal defect	3	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001627	HP:0001710	Conotruncal defect	3	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001627	HP:0001629	Ventricular septal defect	3	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040283 - Occasional		4
HP:0001627	HP:0001631	Atrial septal defect	3	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040283 - Occasional		4
HP:0001627	HP:0001629	Ventricular septal defect	3	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0001627	HP:0001631	Atrial septal defect	3	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies			4
HP:0001627	HP:0001696	Situs inversus totalis	3	OTX2 CL E G H	5015	8522	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent		41
HP:0001627	HP:0001710	Conotruncal defect	3	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0001627	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	3	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0001627	HP:0001629	Ventricular septal defect	3	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional		24
HP:0001627	HP:0001631	Atrial septal defect	3	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional		24
HP:0001627	HP:0001655	Patent foramen ovale	3	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional		24
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome			24
HP:0001627	HP:0001631	Atrial septal defect	3	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0001627	HP:0001655	Patent foramen ovale	3	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome	.		24
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome			24
HP:0001627	HP:0001629	Ventricular septal defect	3	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040283 - Occasional		641
HP:0001627	HP:0001710	Conotruncal defect	3	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria			641
HP:0001627	HP:0001631	Atrial septal defect	3	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1349
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1349
HP:0001627	HP:0001710	Conotruncal defect	3	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0001627	HP:0001629	Ventricular septal defect	3	PALB2 CL E G H	79728	26144	OMIM:610832	Fanconi anemia, complementation group N	.		1349
HP:0001627	HP:0001631	Atrial septal defect	3	PAX3 CL E G H	5077	8617	ORPHA:896	Waardenburg syndrome type 3	HP:0040283 - Occasional		59
HP:0001627	HP:0001631	Atrial septal defect	3	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0001627	HP:0001631	Atrial septal defect	3	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040283 - Occasional		531
HP:0001627	HP:0001723	Restrictive cardiomyopathy	3	PDGFRA CL E G H	5156	8803	OMIM:607685	Hypereosinophilic syndrome, idiopathic	.		337
HP:0001627	HP:0001629	Ventricular septal defect	3	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		88
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		88
HP:0001627	HP:0001629	Ventricular septal defect	3	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional		88
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0001627	HP:0001629	Ventricular septal defect	3	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		6
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		6
HP:0001627	HP:0001629	Ventricular septal defect	3	PEX1 CL E G H	5189	8850	OMIM:214100	Peroxisome biogenesis disorder 1A (Zellweger)	.		169
HP:0001627	HP:0001629	Ventricular septal defect	3	PEX1 CL E G H	5189	8850	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		169
HP:0001627	HP:0001629	Ventricular septal defect	3	PEX10 CL E G H	5192	8851	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		75
HP:0001627	HP:0001629	Ventricular septal defect	3	PEX11B CL E G H	8799	8853	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		4
HP:0001627	HP:0001629	Ventricular septal defect	3	PEX12 CL E G H	5193	8854	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		65
HP:0001627	HP:0001629	Ventricular septal defect	3	PEX13 CL E G H	5194	8855	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		66
HP:0001627	HP:0001629	Ventricular septal defect	3	PEX14 CL E G H	5195	8856	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		46
HP:0001627	HP:0001629	Ventricular septal defect	3	PEX16 CL E G H	9409	8857	OMIM:614876	Peroxisome biogenesis disorder 8A (Zellweger)			59
HP:0001627	HP:0001629	Ventricular septal defect	3	PEX16 CL E G H	9409	8857	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		59
HP:0001627	HP:0001631	Atrial septal defect	3	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.		62
HP:0001627	HP:0001710	Conotruncal defect	3	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0001627	HP:0001629	Ventricular septal defect	3	PEX19 CL E G H	5824	9713	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		62
HP:0001627	HP:0001629	Ventricular septal defect	3	PEX2 CL E G H	5828	9717	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		82
HP:0001627	HP:0001629	Ventricular septal defect	3	PEX26 CL E G H	55670	22965	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		106
HP:0001627	HP:0001629	Ventricular septal defect	3	PEX3 CL E G H	8504	8858	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		47
HP:0001627	HP:0001629	Ventricular septal defect	3	PEX5 CL E G H	5830	9719	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		99
HP:0001627	HP:0001629	Ventricular septal defect	3	PEX6 CL E G H	5190	8859	ORPHA:912	Zellweger syndrome	HP:0040283 - Occasional		98
HP:0001627	HP:0001631	Atrial septal defect	3	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0001627	HP:0001684	Secundum atrial septal defect	3	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0001627	HP:0001629	Ventricular septal defect	3	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	PGM1 CL E G H	5236	8905	OMIM:614921	Congenital disorder of glycosylation, type It			58
HP:0001627	HP:0001629	Ventricular septal defect	3	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.		37
HP:0001627	HP:0001631	Atrial septal defect	3	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome			37
HP:0001627	HP:0001655	Patent foramen ovale	3	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.		37
HP:0001627	HP:0001669	Transposition of the great arteries	3	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.		37
HP:0001627	HP:0001629	Ventricular septal defect	3	PI4KA CL E G H	5297	8983	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare		11
HP:0001627	HP:0001696	Situs inversus totalis	3	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		4
HP:0001627	HP:0001631	Atrial septal defect	3	PIEZO1 CL E G H	9780	28993	OMIM:616843	Lymphedema, hereditary, III			36
HP:0001627	HP:0001629	Ventricular septal defect	3	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040283 - Occasional		77
HP:0001627	HP:0001696	Situs inversus totalis	3	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040283 - Occasional		77
HP:0001627	HP:0001631	Atrial septal defect	3	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2			46
HP:0001627	HP:0001631	Atrial septal defect	3	PIGF CL E G H	5281	8962	OMIM:619356	ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME; OORS
HP:0001627	HP:0001631	Atrial septal defect	3	PIGG CL E G H	54872	25985	ORPHA:280	Wolf-Hirschhorn syndrome	HP:0040282 - Frequent		7
HP:0001627	HP:0001629	Ventricular septal defect	3	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040283 - Occasional		36
HP:0001627	HP:0001669	Transposition of the great arteries	3	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040282 - Frequent		36
HP:0001627	HP:0001710	Conotruncal defect	3	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome			36
HP:0001627	HP:0010882	Pulmonary valve atresia	3	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040282 - Frequent		36
HP:0001627	HP:0001629	Ventricular septal defect	3	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.		36
HP:0001627	HP:0001669	Transposition of the great arteries	3	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.		36
HP:0001627	HP:0001710	Conotruncal defect	3	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome			36
HP:0001627	HP:0001710	Conotruncal defect	3	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome			37
HP:0001627	HP:0001631	Atrial septal defect	3	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0001627	HP:0001655	Patent foramen ovale	3	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040282 - Frequent		37
HP:0001627	HP:0001667	Right ventricular hypertrophy	3	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional		37
HP:0001627	HP:0001631	Atrial septal defect	3	PIGN CL E G H	23556	8967	OMIM:614080	Multiple congenital anomalies-hypotonia-seizures syndrome 1	.		37
HP:0001627	HP:0001631	Atrial septal defect	3	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2			84
HP:0001627	HP:0001629	Ventricular septal defect	3	PIGP CL E G H	51227	3046	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		2
HP:0001627	HP:0001629	Ventricular septal defect	3	PIGQ CL E G H	9091	14135	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		3
HP:0001627	HP:0001631	Atrial septal defect	3	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional		12
HP:0001627	HP:0001723	Restrictive cardiomyopathy	3	PIGT CL E G H	51604	14938	ORPHA:369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	HP:0040283 - Occasional		12
HP:0001627	HP:0001723	Restrictive cardiomyopathy	3	PIGT CL E G H	51604	14938	OMIM:615398	Multiple congenital anomalies-hypotonia-seizures syndrome 3	.		12
HP:0001627	HP:0001629	Ventricular septal defect	3	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.		162
HP:0001627	HP:0001629	Ventricular septal defect	3	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.		12
HP:0001627	HP:0001631	Atrial septal defect	3	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.		12
HP:0001627	HP:0001629	Ventricular septal defect	3	PIK3R2 CL E G H	5296	8980	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040282 - Frequent		12
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease			342
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	PKD1 CL E G H	5310	9008	OMIM:173900	Polycystic kidneys			342
HP:0001627	HP:0001629	Ventricular septal defect	3	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal	.		3
HP:0001627	HP:0001710	Conotruncal defect	3	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal			3
HP:0001627	HP:0011538	Atrial situs inversus	3	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal			3
HP:0001627	HP:0011539	Atrial situs ambiguous	3	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal	.		3
HP:0001627	HP:0011579	Unbalanced atrioventricular canal defect	3	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal	.		3
HP:0001627	HP:0011605	Congenitally corrected transposition of the great arteries with ventricular septal defect	3	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal			3
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease			106
HP:0001627	HP:0001631	Atrial septal defect	3	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001627	HP:0001655	Patent foramen ovale	3	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001627	HP:0034364	Fibrofatty replacement of right ventricular myocardium	3	PKP2 CL E G H	5318	9024	OMIM:609040	Arrhythmogenic right ventricular dysplasia, familial, 9			406
HP:0001627	HP:0011663	Right ventricular cardiomyopathy	3	PKP2 CL E G H	5318	9024	OMIM:609040	Arrhythmogenic right ventricular dysplasia, familial, 9	.		406
HP:0001627	HP:0001629	Ventricular septal defect	3	PLAGL1 CL E G H	5325	9046	ORPHA:96191	Paternal uniparental disomy of chromosome 6	HP:0040281 - Very frequent
HP:0001627	HP:0001629	Ventricular septal defect	3	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0001627	HP:0001710	Conotruncal defect	3	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0001627	HP:0010883	Aortic valve atresia	3	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0001627	HP:0001629	Ventricular septal defect	3	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0001627	HP:0001631	Atrial septal defect	3	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0001627	HP:0001655	Patent foramen ovale	3	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental	.		4
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0001627	HP:0004762	Hypoplasia of right ventricle	3	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0001627	HP:0011554	Double inlet atrioventricular connection	3	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0001627	HP:0011555	Double inlet left ventricle	3	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0001627	HP:0031295	Left atrial enlargement	3	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	PLN CL E G H	5350	9080	OMIM:609909	Cardiomyopathy, dilated, 1P			57
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	PLN CL E G H	5350	9080	OMIM:613874	Cardiomyopathy, familial hypertrophic, 18			57
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	PLN CL E G H	5350	9080	OMIM:613874	Cardiomyopathy, familial hypertrophic, 18	.		57
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	PLN CL E G H	5350	9080	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		57
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency			105
HP:0001627	HP:0001629	Ventricular septal defect	3	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040282 - Frequent
HP:0001627	HP:0001631	Atrial septal defect	3	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional
HP:0001627	HP:0001667	Right ventricular hypertrophy	3	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040282 - Frequent
HP:0001627	HP:0001669	Transposition of the great arteries	3	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040284 - Very rare
HP:0001627	HP:0001710	Conotruncal defect	3	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040284 - Very rare		150
HP:0001627	HP:0001629	Ventricular septal defect	3	PNKP CL E G H	11284	9154	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		244
HP:0001627	HP:0001631	Atrial septal defect	3	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0001627	HP:0001655	Patent foramen ovale	3	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0001627	HP:0001629	Ventricular septal defect	3	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome	.		2
HP:0001627	HP:0001631	Atrial septal defect	3	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome	.		2
HP:0001627	HP:0010882	Pulmonary valve atresia	3	POLA1 CL E G H	5422	9173	OMIM:301030	Van esch-o'driscoll syndrome	.		2
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		464
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	POLG CL E G H	5428	9179	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		464
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		464
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	POLG CL E G H	5428	9179	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040283 - Occasional		464
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		45
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	POLG2 CL E G H	11232	9180	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		45
HP:0001627	HP:0001631	Atrial septal defect	3	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0001627	HP:0001684	Secundum atrial septal defect	3	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0001627	HP:0005164	Dysplastic pulmonary valve	3	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040284 - Very rare		138
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	POMT1 CL E G H	10585	9202	ORPHA:86812	POMT1-related limb-girdle muscular dystrophy R11	HP:0040283 - Occasional		213
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	HP:0040283 - Occasional		221
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14	HP:0040283 - Occasional		221
HP:0001627	HP:0001631	Atrial septal defect	3	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.		76
HP:0001627	HP:0001629	Ventricular septal defect	3	PORCN CL E G H	64840	17652	ORPHA:2092	Focal dermal hypoplasia	HP:0040283 - Occasional		20
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	PPA2 CL E G H	27068	28883	OMIM:617222	Sudden cardiac failure, infantile	HP:0040283 - Occasional		8
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	PPARG CL E G H	5468	9236	ORPHA:528	Congenital generalized lipodystrophy	HP:0040283 - Occasional		42
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	PPARG CL E G H	5468	9236	ORPHA:79083	PPARG-related familial partial lipodystrophy	HP:0040283 - Occasional		42
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	PPCS CL E G H	79717	25686	OMIM:618189	Cardiomyopathy, dilated, 2C	.
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	PPCS CL E G H	79717	25686	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent
HP:0001627	HP:0001629	Ventricular septal defect	3	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0001627	HP:0001631	Atrial septal defect	3	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0001627	HP:0001629	Ventricular septal defect	3	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040282 - Frequent		9
HP:0001627	HP:0001629	Ventricular septal defect	3	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0001627	HP:0001631	Atrial septal defect	3	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0001627	HP:0001655	Patent foramen ovale	3	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0001627	HP:0001631	Atrial septal defect	3	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0001627	HP:0001629	Ventricular septal defect	3	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040283 - Occasional		10
HP:0001627	HP:0001631	Atrial septal defect	3	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare		10
HP:0001627	HP:0001655	Patent foramen ovale	3	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare		10
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome			10
HP:0001627	HP:0001631	Atrial septal defect	3	PQBP1 CL E G H	10084	9330	ORPHA:93946	Hamel cerebro-palato-cardiac syndrome	HP:0040281 - Very frequent		28
HP:0001627	HP:0001629	Ventricular septal defect	3	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.		28
HP:0001627	HP:0001631	Atrial septal defect	3	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.		28
HP:0001627	HP:0001696	Situs inversus totalis	3	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0001627	HP:0001710	Conotruncal defect	3	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome			28
HP:0001627	HP:0001631	Atrial septal defect	3	PQBP1 CL E G H	10084	9330	ORPHA:93947	X-linked intellectual disability, Golabi-Ito-Hall type	HP:0040282 - Frequent		28
HP:0001627	HP:0001629	Ventricular septal defect	3	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0001627	HP:0001631	Atrial septal defect	3	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0001627	HP:0001684	Secundum atrial septal defect	3	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0001627	HP:0001710	Conotruncal defect	3	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome			148
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	PRDM16 CL E G H	63976	14000	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		148
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	PRDM16 CL E G H	63976	14000	OMIM:615373	Left ventricular noncompaction 8	.		148
HP:0001627	HP:0031192	Abnormal morphology of left ventricular trabeculae	3	PRDM16 CL E G H	63976	14000	OMIM:615373	Left ventricular noncompaction 8			148
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome			58
HP:0001627	HP:0002563	Constrictive pericarditis	3	PRG4 CL E G H	10216	9364	OMIM:208250	Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome	.		6
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0001627	HP:0001631	Atrial septal defect	3	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001627	HP:0001655	Patent foramen ovale	3	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001627	HP:0001674	Complete atrioventricular canal defect	3	PRKACA CL E G H	5566	9380	OMIM:619142	CARDIOACROFACIAL DYSPLASIA 1; CAFD1			2
HP:0001627	HP:0001629	Ventricular septal defect	3	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		2
HP:0001627	HP:0001631	Atrial septal defect	3	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		2
HP:0001627	HP:0001696	Situs inversus totalis	3	PRKACA CL E G H	5566	9380	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		2
HP:0001627	HP:0001629	Ventricular septal defect	3	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		2
HP:0001627	HP:0001631	Atrial septal defect	3	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		2
HP:0001627	HP:0001696	Situs inversus totalis	3	PRKACB CL E G H	5567	9381	ORPHA:289	Ellis Van Creveld syndrome	HP:0040282 - Frequent		2
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	PRKAG2 CL E G H	51422	9386	OMIM:600858	Cardiomyopathy, familial hypertrophic, 6	.		235
HP:0001627	HP:0200128	Biventricular hypertrophy	3	PRKAG2 CL E G H	51422	9386	OMIM:261740	Glycogen storage disease of heart, lethal congenital	.		235
HP:0001627	HP:0006689	Bacterial endocarditis	3	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma	HP:0040283 - Occasional		134
HP:0001627	HP:0006691	Pulmonic valve myxoma	3	PRKAR1A CL E G H	5573	9388	ORPHA:615	Familial atrial myxoma	HP:0040281 - Very frequent		134
HP:0001627	HP:0006689	Bacterial endocarditis	3	PRKAR1A CL E G H	5573	9388	OMIM:255960	Myxoma, intracardiac	.		134
HP:0001627	HP:0006691	Pulmonic valve myxoma	3	PRKAR1A CL E G H	5573	9388	OMIM:255960	Myxoma, intracardiac	.		134
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			41
HP:0001627	HP:0001631	Atrial septal defect	3	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0001627	HP:0001655	Patent foramen ovale	3	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0001627	HP:0001696	Situs inversus totalis	3	PRRX1 CL E G H	5396	9142	ORPHA:990	Agnathia-holoprosencephaly-situs inversus syndrome	HP:0040281 - Very frequent		4
HP:0001627	HP:0001631	Atrial septal defect	3	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex			4
HP:0001627	HP:0001684	Secundum atrial septal defect	3	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex			4
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	PRUNE1 CL E G H	58497	13420	ORPHA:544469	PRUNE1-related neurological syndrome			8
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	PSEN1 CL E G H	5663	9508	OMIM:613694	Cardiomyopathy, dilated, 1U	.		241
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	PSEN1 CL E G H	5663	9508	OMIM:613694	Cardiomyopathy, dilated, 1U			241
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	PSEN1 CL E G H	5663	9508	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		241
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V	.		59
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	PSEN2 CL E G H	5664	9509	OMIM:613697	Cardiomyopathy, dilated, 1V			59
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	PSEN2 CL E G H	5664	9509	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		59
HP:0001627	HP:0001629	Ventricular septal defect	3	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0001627	HP:0001629	Ventricular septal defect	3	PSMD12 CL E G H	5718	9557	OMIM:617516	Stankiewicz-Isidor syndrome			4
HP:0001627	HP:0001710	Conotruncal defect	3	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly			665
HP:0001627	HP:0001631	Atrial septal defect	3	PTEN CL E G H	5728	9588	ORPHA:79076	Juvenile polyposis of infancy	HP:0040283 - Occasional		948
HP:0001627	HP:0001631	Atrial septal defect	3	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis			22
HP:0001627	HP:0001684	Secundum atrial septal defect	3	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	HP:0040283 - Occasional		22
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0001627	HP:0011103	Abnormal left ventricular outflow tract morphology	3	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1			291
HP:0001627	HP:0001629	Ventricular septal defect	3	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1	.		291
HP:0001627	HP:0001631	Atrial septal defect	3	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	PTPN11 CL E G H	5781	9644	OMIM:163950	Noonan syndrome 1			291
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent		291
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent		291
HP:0001627	HP:0001710	Conotruncal defect	3	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0001627	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	3	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0001627	HP:0001629	Ventricular septal defect	3	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional		19
HP:0001627	HP:0001674	Complete atrioventricular canal defect	3	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional		19
HP:0001627	HP:0005176	Dysplastic aortic valve	3	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional		19
HP:0001627	HP:0001629	Ventricular septal defect	3	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional		19
HP:0001627	HP:0001710	Conotruncal defect	3	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome			19
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	PYGL CL E G H	5836	9725	ORPHA:369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	HP:0040284 - Very rare		71
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	PYGM CL E G H	5837	9726	ORPHA:368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	HP:0040283 - Occasional		166
HP:0001627	HP:0001669	Transposition of the great arteries	3	QRICH1 CL E G H	54870	24713	OMIM:617982	VERVERI-BRADY SYNDROME; VERBRAS
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	QRSL1 CL E G H	55278	21020	OMIM:618835	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 40; COXPD40
HP:0001627	HP:0001629	Ventricular septal defect	3	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0001627	HP:0001631	Atrial septal defect	3	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0001627	HP:0001669	Transposition of the great arteries	3	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0001627	HP:0001710	Conotruncal defect	3	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0001627	HP:0001629	Ventricular septal defect	3	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0001627	HP:0001629	Ventricular septal defect	3	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:0001627	HP:0001631	Atrial septal defect	3	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0001627	HP:0001655	Patent foramen ovale	3	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:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom			3
HP:0001627	HP:0001629	Ventricular septal defect	3	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		25
HP:0001627	HP:0001631	Atrial septal defect	3	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		25
HP:0001627	HP:0001710	Conotruncal defect	3	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0001627	HP:0001629	Ventricular septal defect	3	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome			25
HP:0001627	HP:0001631	Atrial septal defect	3	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		9
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		9
HP:0001627	HP:0001710	Conotruncal defect	3	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0001627	HP:0001631	Atrial septal defect	3	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		391
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		391
HP:0001627	HP:0001710	Conotruncal defect	3	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	RAF1 CL E G H	5894	9829	OMIM:615916	Cardiomyopathy, dilated, 1nn	.		212
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	RAF1 CL E G H	5894	9829	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		212
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	RAF1 CL E G H	5894	9829	OMIM:611554	LEOPARD SYNDROME 2; LPRD2			212
HP:0001627	HP:0001631	Atrial septal defect	3	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	RAF1 CL E G H	5894	9829	OMIM:611553	Noonan syndrome 5			212
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent		212
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040281 - Very frequent		212
HP:0001627	HP:0001629	Ventricular septal defect	3	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional		150
HP:0001627	HP:0001631	Atrial septal defect	3	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional		150
HP:0001627	HP:0001655	Patent foramen ovale	3	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional		150
HP:0001627	HP:0001710	Conotruncal defect	3	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome			150
HP:0001627	HP:0001629	Ventricular septal defect	3	RARB CL E G H	5915	9865	OMIM:615524	Microphthalmia, syndromic 12	HP:0040283 - Occasional		9
HP:0001627	HP:0005156	Hypoplastic left atrium	3	RARB CL E G H	5915	9865	OMIM:615524	Microphthalmia, syndromic 12	HP:0040283 - Occasional		9
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	RBCK1 CL E G H	10616	15864	OMIM:615895	Polyglucosan body myopathy 1 with or without immunodeficiency	.		10
HP:0001627	HP:0001631	Atrial septal defect	3	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040281 - Very frequent		16
HP:0001627	HP:0001710	Conotruncal defect	3	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome			16
HP:0001627	HP:0001710	Conotruncal defect	3	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome			16
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	RBM20 CL E G H	282996	27424	OMIM:613172	Cardiomyopathy, dilated, 1dd	.		363
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	RBM20 CL E G H	282996	27424	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		363
HP:0001627	HP:0001629	Ventricular septal defect	3	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0001627	HP:0001631	Atrial septal defect	3	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome	.		10
HP:0001627	HP:0001710	Conotruncal defect	3	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0001627	HP:0001710	Conotruncal defect	3	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome			10
HP:0001627	HP:0001710	Conotruncal defect	3	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0001627	HP:0001631	Atrial septal defect	3	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional		334
HP:0001627	HP:0001655	Patent foramen ovale	3	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional		334
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0001627	HP:0001710	Conotruncal defect	3	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome			16
HP:0001627	HP:0001629	Ventricular septal defect	3	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0001627	HP:0001631	Atrial septal defect	3	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0001627	HP:0001655	Patent foramen ovale	3	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0001627	HP:0001629	Ventricular septal defect	3	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional		16
HP:0001627	HP:0001629	Ventricular septal defect	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001631	Atrial septal defect	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0001627	HP:0001631	Atrial septal defect	3	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0001627	HP:0001631	Atrial septal defect	3	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0001627	HP:0001655	Patent foramen ovale	3	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0001627	HP:0001629	Ventricular septal defect	3	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0001627	HP:0001631	Atrial septal defect	3	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	RIT1 CL E G H	6016	10023	OMIM:615355	NOONAN SYNDROME 8; NS8			39
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare		33
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare		34
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare		60
HP:0001627	HP:0001629	Ventricular septal defect	3	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional		3
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	RNF220 CL E G H	55182	25552	OMIM:619688	LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY; HLD23			1
HP:0001627	HP:0001629	Ventricular septal defect	3	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0001627	HP:0001631	Atrial septal defect	3	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0001627	HP:0001655	Patent foramen ovale	3	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0001627	HP:0001710	Conotruncal defect	3	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0001627	HP:0001629	Ventricular septal defect	3	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0001627	HP:0012817	Noncompaction cardiomyopathy	3	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome			15
HP:0001627	HP:0012817	Noncompaction cardiomyopathy	3	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040284 - Very rare		15
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0001627	HP:0001631	Atrial septal defect	3	ROBO4 CL E G H	54538	17985	OMIM:618496	Aortic valve disease 3	HP:0040284 - Very rare
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	ROBO4 CL E G H	54538	17985	OMIM:618496	Aortic valve disease 3
HP:0001627	HP:0001629	Ventricular septal defect	3	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		120
HP:0001627	HP:0001631	Atrial septal defect	3	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		120
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		120
HP:0001627	HP:0001710	Conotruncal defect	3	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome			120
HP:0001627	HP:0001629	Ventricular septal defect	3	ROR2 CL E G H	4920	10257	OMIM:113000	Brachydactyly, type B1	.		120
HP:0001627	HP:0001669	Transposition of the great arteries	3	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		200
HP:0001627	HP:0001696	Situs inversus totalis	3	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		200
HP:0001627	HP:0001710	Conotruncal defect	3	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0001627	HP:0011539	Atrial situs ambiguous	3	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		200
HP:0001627	HP:0001696	Situs inversus totalis	3	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		109
HP:0001627	HP:0001696	Situs inversus totalis	3	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		167
HP:0001627	HP:0001629	Ventricular septal defect	3	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0001627	HP:0001631	Atrial septal defect	3	RPL10 CL E G H	6134	10298	OMIM:300998	MENTAL RETARDATION, X-LINKED, SYNDROMIC, 35; MRXS35			10
HP:0001627	HP:0001629	Ventricular septal defect	3	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional		10
HP:0001627	HP:0001631	Atrial septal defect	3	RPL10 CL E G H	6134	10298	ORPHA:459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	HP:0040283 - Occasional		10
HP:0001627	HP:0001629	Ventricular septal defect	3	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		22
HP:0001627	HP:0001631	Atrial septal defect	3	RPL11 CL E G H	6135	10301	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		22
HP:0001627	HP:0001629	Ventricular septal defect	3	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.		22
HP:0001627	HP:0001631	Atrial septal defect	3	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0001627	HP:0001684	Secundum atrial septal defect	3	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.		22
HP:0001627	HP:0001710	Conotruncal defect	3	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0001627	HP:0001629	Ventricular septal defect	3	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		3
HP:0001627	HP:0001631	Atrial septal defect	3	RPL15 CL E G H	6138	10306	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		3
HP:0001627	HP:0001629	Ventricular septal defect	3	RPL15 CL E G H	6138	10306	OMIM:615550	Diamond-Blackfan anemia 12	.		3
HP:0001627	HP:0001629	Ventricular septal defect	3	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001627	HP:0001631	Atrial septal defect	3	RPL18 CL E G H	6141	10310	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001627	HP:0001629	Ventricular septal defect	3	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		3
HP:0001627	HP:0001631	Atrial septal defect	3	RPL26 CL E G H	6154	10327	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		3
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11			3
HP:0001627	HP:0001629	Ventricular septal defect	3	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0001627	HP:0001631	Atrial septal defect	3	RPL27 CL E G H	6155	10328	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0001627	HP:0001631	Atrial septal defect	3	RPL27 CL E G H	6155	10328	OMIM:617408	Diamond-Blackfan anemia 16	.		1
HP:0001627	HP:0001629	Ventricular septal defect	3	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001627	HP:0001631	Atrial septal defect	3	RPL31 CL E G H	6160	10334	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001627	HP:0001629	Ventricular septal defect	3	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001627	HP:0001631	Atrial septal defect	3	RPL35 CL E G H	11224	10344	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001627	HP:0001629	Ventricular septal defect	3	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		11
HP:0001627	HP:0001631	Atrial septal defect	3	RPL35A CL E G H	6165	10345	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		11
HP:0001627	HP:0001629	Ventricular septal defect	3	RPL35A CL E G H	6165	10345	OMIM:612528	Diamond-Blackfan anemia 5			11
HP:0001627	HP:0001629	Ventricular septal defect	3	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0001627	HP:0001631	Atrial septal defect	3	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0001627	HP:0001655	Patent foramen ovale	3	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0001627	HP:0030718	Right atrial enlargement	3	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0001627	HP:0031329	Interstitial cardiac fibrosis	3	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0001627	HP:0001629	Ventricular septal defect	3	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		40
HP:0001627	HP:0001631	Atrial septal defect	3	RPL5 CL E G H	6125	10360	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		40
HP:0001627	HP:0001629	Ventricular septal defect	3	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6	.		40
HP:0001627	HP:0001631	Atrial septal defect	3	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0001627	HP:0001710	Conotruncal defect	3	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6			40
HP:0001627	HP:0001629	Ventricular septal defect	3	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		26
HP:0001627	HP:0001631	Atrial septal defect	3	RPS10 CL E G H	6204	10383	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		26
HP:0001627	HP:0001629	Ventricular septal defect	3	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001627	HP:0001631	Atrial septal defect	3	RPS15A CL E G H	6210	10389	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional
HP:0001627	HP:0001629	Ventricular septal defect	3	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		5
HP:0001627	HP:0001631	Atrial septal defect	3	RPS17 CL E G H	6218	10397	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		5
HP:0001627	HP:0001631	Atrial septal defect	3	RPS17 CL E G H	6218	10397	OMIM:612527	Diamond-Blackfan anemia 4	.		5
HP:0001627	HP:0001629	Ventricular septal defect	3	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		42
HP:0001627	HP:0001631	Atrial septal defect	3	RPS19 CL E G H	6223	10402	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		42
HP:0001627	HP:0001629	Ventricular septal defect	3	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0001627	HP:0001631	Atrial septal defect	3	RPS19 CL E G H	6223	10402	OMIM:105650	Diamond-Blackfan anemia 1			42
HP:0001627	HP:0001629	Ventricular septal defect	3	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0001627	HP:0001631	Atrial septal defect	3	RPS20 CL E G H	6224	10405	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0001627	HP:0001629	Ventricular septal defect	3	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		22
HP:0001627	HP:0001631	Atrial septal defect	3	RPS24 CL E G H	6229	10411	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		22
HP:0001627	HP:0001629	Ventricular septal defect	3	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		20
HP:0001627	HP:0001631	Atrial septal defect	3	RPS26 CL E G H	6231	10414	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		20
HP:0001627	HP:0001629	Ventricular septal defect	3	RPS26 CL E G H	6231	10414	OMIM:613309	Diamond-blackfan anemia 10	HP:0040283 - Occasional		20
HP:0001627	HP:0001629	Ventricular septal defect	3	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0001627	HP:0001631	Atrial septal defect	3	RPS27 CL E G H	6232	10416	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0001627	HP:0001629	Ventricular septal defect	3	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0001627	HP:0001631	Atrial septal defect	3	RPS28 CL E G H	6234	10418	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0001627	HP:0001629	Ventricular septal defect	3	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		3
HP:0001627	HP:0001631	Atrial septal defect	3	RPS29 CL E G H	6235	10419	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		3
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040283 - Occasional		65
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040283 - Occasional		65
HP:0001627	HP:0001629	Ventricular septal defect	3	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		20
HP:0001627	HP:0001631	Atrial septal defect	3	RPS7 CL E G H	6201	10440	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		20
HP:0001627	HP:0001629	Ventricular septal defect	3	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0001627	HP:0001710	Conotruncal defect	3	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0001627	HP:0001629	Ventricular septal defect	3	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001627	HP:0001631	Atrial septal defect	3	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0001710	Conotruncal defect	3	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		125
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	RRM2B CL E G H	50484	17296	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		125
HP:0001627	HP:0001669	Transposition of the great arteries	3	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		31
HP:0001627	HP:0001696	Situs inversus totalis	3	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		31
HP:0001627	HP:0001710	Conotruncal defect	3	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0001627	HP:0011539	Atrial situs ambiguous	3	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		31
HP:0001627	HP:0001669	Transposition of the great arteries	3	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		5
HP:0001627	HP:0001696	Situs inversus totalis	3	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		5
HP:0001627	HP:0001710	Conotruncal defect	3	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0001627	HP:0011539	Atrial situs ambiguous	3	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		5
HP:0001627	HP:0001669	Transposition of the great arteries	3	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		58
HP:0001627	HP:0001696	Situs inversus totalis	3	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		58
HP:0001627	HP:0001710	Conotruncal defect	3	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0001627	HP:0011539	Atrial situs ambiguous	3	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		58
HP:0001627	HP:0001669	Transposition of the great arteries	3	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		20
HP:0001627	HP:0001696	Situs inversus totalis	3	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		20
HP:0001627	HP:0001710	Conotruncal defect	3	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0001627	HP:0011539	Atrial situs ambiguous	3	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		20
HP:0001627	HP:0001629	Ventricular septal defect	3	RSPO2 CL E G H	340419	28583	OMIM:618021	Tetraamelia syndrome 2	.
HP:0001627	HP:0001631	Atrial septal defect	3	RSPRY1 CL E G H	89970	29420	ORPHA:457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome			2
HP:0001627	HP:0001655	Patent foramen ovale	3	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:0001627	HP:0001629	Ventricular septal defect	3	RTL1 CL E G H	388015	14665	ORPHA:254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	HP:0040283 - Occasional
HP:0001627	HP:0001629	Ventricular septal defect	3	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0001627	HP:0001631	Atrial septal defect	3	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	RYR1 CL E G H	6261	10483	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		1200
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease			1200
HP:0001627	HP:0001629	Ventricular septal defect	3	RYR1 CL E G H	6261	10483	OMIM:619542	KING-DENBOROUGH SYNDROME; KDS			1200
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	RYR1 CL E G H	6261	10483	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		1200
HP:0001627	HP:0011663	Right ventricular cardiomyopathy	3	RYR2 CL E G H	6262	10484	OMIM:600996	Arrhythmogenic right ventricular dysplasia, familial, 2			1103
HP:0001627	HP:0012817	Noncompaction cardiomyopathy	3	RYR2 CL E G H	6262	10484	OMIM:115000	CARDIAC ARRHYTHMIA			1103
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	RYR2 CL E G H	6262	10484	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1			1103
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay			309
HP:0001627	HP:0001631	Atrial septal defect	3	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		124
HP:0001627	HP:0001710	Conotruncal defect	3	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome			124
HP:0001627	HP:0001629	Ventricular septal defect	3	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0001627	HP:0001631	Atrial septal defect	3	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0001627	HP:0001710	Conotruncal defect	3	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0001627	HP:0001710	Conotruncal defect	3	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome			86
HP:0001627	HP:0001629	Ventricular septal defect	3	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.		86
HP:0001627	HP:0001631	Atrial septal defect	3	SALL4 CL E G H	57167	15924	OMIM:607323	Duane-Radial ray syndrome	.		86
HP:0001627	HP:0001710	Conotruncal defect	3	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome			86
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare		55
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SARDH CL E G H	1757	10536	ORPHA:3129	Sarcosinemia	HP:0040283 - Occasional		4
HP:0001627	HP:0001629	Ventricular septal defect	3	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0001627	HP:0001629	Ventricular septal defect	3	SATB2 CL E G H	23314	21637	ORPHA:251028	SATB2-associated syndrome due to a chromosomal rearrangement	HP:0040283 - Occasional		34
HP:0001627	HP:0031295	Left atrial enlargement	3	SCN1B CL E G H	6324	10586	OMIM:615377	Atrial fibrillation, familial, 13	.		126
HP:0001627	HP:0001629	Ventricular septal defect	3	SCN1B CL E G H	6324	10586	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		126
HP:0001627	HP:0001629	Ventricular septal defect	3	SCN2A CL E G H	6326	10588	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		427
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	SCN5A CL E G H	6331	10593	OMIM:614022	Atrial fibrillation, familial, 10	HP:0040283 - Occasional		1134
HP:0001627	HP:0005133	Right ventricular dilatation	3	SCN5A CL E G H	6331	10593	OMIM:614022	Atrial fibrillation, familial, 10			1134
HP:0001627	HP:0031295	Left atrial enlargement	3	SCN5A CL E G H	6331	10593	OMIM:614022	Atrial fibrillation, familial, 10	HP:0040284 - Very rare		1134
HP:0001627	HP:0031192	Abnormal morphology of left ventricular trabeculae	3	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill			1134
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	SCN5A CL E G H	6331	10593	OMIM:601154	Cardiomyopathy, dilated, 1E	.		1134
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	SCN5A CL E G H	6331	10593	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		1134
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	SCO1 CL E G H	6341	10603	OMIM:619048	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 4; MC4DN4			46
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	.		40
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		40
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		40
HP:0001627	HP:0001631	Atrial septal defect	3	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:0001627	HP:0001655	Patent foramen ovale	3	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:0001627	HP:0001644	Dilated cardiomyopathy	3	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg	.	HP:0003623 - Neonatal onset	304
HP:0001627	HP:0031192	Abnormal morphology of left ventricular trabeculae	3	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg			304
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	SDHA CL E G H	6389	10680	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		304
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		304
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		304
HP:0001627	HP:0012817	Noncompaction cardiomyopathy	3	SDHA CL E G H	6389	10680	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		304
HP:0001627	HP:0001629	Ventricular septal defect	3	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		304
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		304
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.		304
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.		304
HP:0001627	HP:0031192	Abnormal morphology of left ventricular trabeculae	3	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency			304
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		16
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		16
HP:0001627	HP:0012817	Noncompaction cardiomyopathy	3	SDHAF1 CL E G H	644096	33867	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		16
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		237
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		237
HP:0001627	HP:0012817	Noncompaction cardiomyopathy	3	SDHB CL E G H	6390	10681	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		237
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		129
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040282 - Frequent		129
HP:0001627	HP:0012817	Noncompaction cardiomyopathy	3	SDHD CL E G H	6392	10683	ORPHA:3208	Isolated succinate-CoQ reductase deficiency	HP:0040283 - Occasional		129
HP:0001627	HP:0001631	Atrial septal defect	3	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0001627	HP:0001655	Patent foramen ovale	3	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0001627	HP:0031192	Abnormal morphology of left ventricular trabeculae	3	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0001627	HP:0001629	Ventricular septal defect	3	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001627	HP:0001631	Atrial septal defect	3	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0001710	Conotruncal defect	3	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0001629	Ventricular septal defect	3	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy			144
HP:0001627	HP:0001667	Right ventricular hypertrophy	3	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040283 - Occasional		144
HP:0001627	HP:0001648	Cor pulmonale	3	SELENON CL E G H	57190	15999	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		144
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	SELENON CL E G H	57190	15999	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		144
HP:0001627	HP:0001710	Conotruncal defect	3	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome			16
HP:0001627	HP:0001631	Atrial septal defect	3	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.		143
HP:0001627	HP:0001631	Atrial septal defect	3	SETD1A CL E G H	9739	29010	OMIM:618832	EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD			6
HP:0001627	HP:0001655	Patent foramen ovale	3	SETD1A CL E G H	9739	29010	OMIM:618832	EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD			6
HP:0001627	HP:0001629	Ventricular septal defect	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		60
HP:0001627	HP:0001631	Atrial septal defect	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional		60
HP:0001627	HP:0001629	Ventricular septal defect	3	SETD5 CL E G H	55209	25566	ORPHA:404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	HP:0040283 - Occasional		43
HP:0001627	HP:0001629	Ventricular septal defect	3	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.		2
HP:0001627	HP:0001710	Conotruncal defect	3	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0001627	HP:0001629	Ventricular septal defect	3	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	HP:0040283 - Occasional		49
HP:0001627	HP:0001710	Conotruncal defect	3	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0001627	HP:0001667	Right ventricular hypertrophy	3	SFTPB CL E G H	6439	10801	ORPHA:217563	Neonatal acute respiratory distress due to SP-B deficiency	HP:0040283 - Occasional		51
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	SGCA CL E G H	6442	10805	OMIM:608099	Muscular dystrophy, limb-girdle, type 2D			132
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	SGCB CL E G H	6443	10806	OMIM:604286	Muscular dystrophy, limb-girdle, type 2E	HP:0040283 - Occasional		113
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	SGCD CL E G H	6444	10807	OMIM:606685	CARDIOMYOPATHY, DILATED, 1L; CMD1L			223
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	SGCD CL E G H	6444	10807	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		223
HP:0001627	HP:0001667	Right ventricular hypertrophy	3	SGCG CL E G H	6445	10809	ORPHA:353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	HP:0040282 - Frequent		83
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	SGO1 CL E G H	151648	25088	OMIM:616201	Chronic atrial and intestinal dysrhythmia			2
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA			97
HP:0001627	HP:0001631	Atrial septal defect	3	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001629	Ventricular septal defect	3	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0001627	HP:0001631	Atrial septal defect	3	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome			134
HP:0001627	HP:0001655	Patent foramen ovale	3	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0001627	HP:0001684	Secundum atrial septal defect	3	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0001627	HP:0001710	Conotruncal defect	3	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0001627	HP:0001629	Ventricular septal defect	3	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome			53
HP:0001627	HP:0001710	Conotruncal defect	3	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly			67
HP:0001627	HP:0001631	Atrial septal defect	3	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0001627	HP:0001684	Secundum atrial septal defect	3	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040282 - Frequent		74
HP:0001627	HP:0001629	Ventricular septal defect	3	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0001627	HP:0001631	Atrial septal defect	3	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SHOC2 CL E G H	8036	15454	OMIM:607721	Noonan syndrome-like with loose anagen hair 1			74
HP:0001627	HP:0001631	Atrial septal defect	3	SIAH1 CL E G H	6477	10857	OMIM:619314	BURATTI-HAREL SYNDROME; BURHAS
HP:0001627	HP:0001629	Ventricular septal defect	3	SIK1 CL E G H	150094	11142	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		11
HP:0001627	HP:0001631	Atrial septal defect	3	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type	.
HP:0001627	HP:0001710	Conotruncal defect	3	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly			32
HP:0001627	HP:0001629	Ventricular septal defect	3	SIX6 CL E G H	4990	10892	OMIM:206900	Microphthalmia, syndromic 3	.		20
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0001627	HP:0001710	Conotruncal defect	3	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome			150
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0001627	HP:0001629	Ventricular septal defect	3	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0001627	HP:0001631	Atrial septal defect	3	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0001627	HP:0001710	Conotruncal defect	3	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0001627	HP:0001629	Ventricular septal defect	3	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0001627	HP:0001631	Atrial septal defect	3	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0001627	HP:0001710	Conotruncal defect	3	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0001627	HP:0001629	Ventricular septal defect	3	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1
HP:0001627	HP:0001629	Ventricular septal defect	3	SLC12A2 CL E G H	6558	10911	OMIM:619083	DELPIRE-MCNEILL SYNDROME; DELMNES			2
HP:0001627	HP:0001629	Ventricular septal defect	3	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	.		55
HP:0001627	HP:0001629	Ventricular septal defect	3	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome	HP:0040283 - Occasional		55
HP:0001627	HP:0001631	Atrial septal defect	3	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	.		55
HP:0001627	HP:0001631	Atrial septal defect	3	SLC19A2 CL E G H	10560	10938	ORPHA:49827	Thiamine-responsive megaloblastic anemia syndrome	HP:0040283 - Occasional		55
HP:0001627	HP:0001696	Situs inversus totalis	3	SLC19A2 CL E G H	10560	10938	OMIM:249270	Thiamine-Responsive megaloblastic anemia syndrome	HP:0040283 - Occasional		55
HP:0001627	HP:0001629	Ventricular septal defect	3	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		110
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		110
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SLC22A5 CL E G H	6584	10969	OMIM:212140	Carnitine deficiency, systemic primary	.		207
HP:0001627	HP:0001667	Right ventricular hypertrophy	3	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39			44
HP:0001627	HP:0001629	Ventricular septal defect	3	SLC25A22 CL E G H	79751	19954	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		166
HP:0001627	HP:0001631	Atrial septal defect	3	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SLC25A3 CL E G H	5250	10989	ORPHA:91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome	HP:0040281 - Very frequent		35
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SLC25A3 CL E G H	5250	10989	OMIM:610773	MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY			35
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		68
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	SLC25A4 CL E G H	291	10990	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		68
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SLC25A4 CL E G H	291	10990	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	HP:0040281 - Very frequent		68
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)	.		68
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant	HP:0040283 - Occasional		68
HP:0001627	HP:0001629	Ventricular septal defect	3	SLC29A3 CL E G H	55315	23096	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		68
HP:0001627	HP:0001629	Ventricular septal defect	3	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0001627	HP:0001631	Atrial septal defect	3	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional		178
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040283 - Occasional		178
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SLC30A10 CL E G H	55532	25355	ORPHA:309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	HP:0040283 - Occasional		42
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis			7
HP:0001627	HP:0004382	Mitral valve calcification	3	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040284 - Very rare		7
HP:0001627	HP:0001631	Atrial septal defect	3	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm			27
HP:0001627	HP:0001710	Conotruncal defect	3	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG			27
HP:0001627	HP:0001629	Ventricular septal defect	3	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0001627	HP:0001710	Conotruncal defect	3	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0001627	HP:0001631	Atrial septal defect	3	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0001627	HP:0001696	Situs inversus totalis	3	SLC38A3 CL E G H	10991	18044	OMIM:619881
HP:0001627	HP:0001723	Restrictive cardiomyopathy	3	SLC4A1 CL E G H	6521	11027	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		109
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	SLC5A6 CL E G H	8884	11041	OMIM:619903
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy
HP:0001627	HP:0001631	Atrial septal defect	3	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		274
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		274
HP:0001627	HP:0001710	Conotruncal defect	3	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0001627	HP:0001629	Ventricular septal defect	3	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0001627	HP:0001631	Atrial septal defect	3	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0001627	HP:0001669	Transposition of the great arteries	3	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0001627	HP:0001710	Conotruncal defect	3	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0001627	HP:0011579	Unbalanced atrioventricular canal defect	3	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			7
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040283 - Occasional		260
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			260
HP:0001627	HP:0001631	Atrial septal defect	3	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			504
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome			504
HP:0001627	HP:0001629	Ventricular septal defect	3	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0001627	HP:0001631	Atrial septal defect	3	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome			504
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	SMAD6 CL E G H	4091	6772	OMIM:614823	Aortic valve disease 2			33
HP:0001627	HP:0004380	Aortic valve calcification	3	SMAD6 CL E G H	4091	6772	ORPHA:402075	Familial bicuspid aortic valve	HP:0040281 - Very frequent		33
HP:0001627	HP:0011103	Abnormal left ventricular outflow tract morphology	3	SMAD6 CL E G H	4091	6772	ORPHA:402075	Familial bicuspid aortic valve	HP:0040284 - Very rare		33
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	SMAD6 CL E G H	4091	6772	ORPHA:402075	Familial bicuspid aortic valve			33
HP:0001627	HP:0001631	Atrial septal defect	3	SMARCA2 CL E G H	6595	11098	ORPHA:2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	HP:0040282 - Frequent		146
HP:0001627	HP:0001629	Ventricular septal defect	3	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		617
HP:0001627	HP:0001631	Atrial septal defect	3	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		617
HP:0001627	HP:0001710	Conotruncal defect	3	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome			617
HP:0001627	HP:0001629	Ventricular septal defect	3	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		87
HP:0001627	HP:0001631	Atrial septal defect	3	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		87
HP:0001627	HP:0001710	Conotruncal defect	3	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome			87
HP:0001627	HP:0001629	Ventricular septal defect	3	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001631	Atrial septal defect	3	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001710	Conotruncal defect	3	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome			1
HP:0001627	HP:0001629	Ventricular septal defect	3	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001631	Atrial septal defect	3	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0001627	HP:0001629	Ventricular septal defect	3	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		47
HP:0001627	HP:0001631	Atrial septal defect	3	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		47
HP:0001627	HP:0001710	Conotruncal defect	3	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome			47
HP:0001627	HP:0001631	Atrial septal defect	3	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5			47
HP:0001627	HP:0001629	Ventricular septal defect	3	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		135
HP:0001627	HP:0001631	Atrial septal defect	3	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		135
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2	HP:0040283 - Occasional		135
HP:0001627	HP:0001629	Ventricular septal defect	3	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0001627	HP:0001631	Atrial septal defect	3	SMC1A CL E G H	8243	11111	OMIM:301044	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 85 WITH OR WITHOUT MIDLINE BRAIN DEFECTS; DEE85			135
HP:0001627	HP:0001629	Ventricular septal defect	3	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		91
HP:0001627	HP:0001631	Atrial septal defect	3	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional		91
HP:0001627	HP:0001629	Ventricular septal defect	3	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0001627	HP:0001631	Atrial septal defect	3	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0001627	HP:0001629	Ventricular septal defect	3	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0001627	HP:0001631	Atrial septal defect	3	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0001627	HP:0001655	Patent foramen ovale	3	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0001627	HP:0031298	Coronary sinus enlargement	3	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0001627	HP:0001629	Ventricular septal defect	3	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0001627	HP:0001669	Transposition of the great arteries	3	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0001627	HP:0001629	Ventricular septal defect	3	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome			2
HP:0001627	HP:0001629	Ventricular septal defect	3	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I	.		22
HP:0001627	HP:0001631	Atrial septal defect	3	SMN1 CL E G H	6606	11117	OMIM:253300	Spinal muscular atrophy, type I	.		22
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism			3
HP:0001627	HP:0001629	Ventricular septal defect	3	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.		6
HP:0001627	HP:0001629	Ventricular septal defect	3	SNRPB CL E G H	6628	11153	ORPHA:1393	Cerebrocostomandibular syndrome	HP:0040283 - Occasional		6
HP:0001627	HP:0001631	Atrial septal defect	3	SNRPB CL E G H	6628	11153	OMIM:117650	Cerebrocostomandibular syndrome	.		6
HP:0001627	HP:0001631	Atrial septal defect	3	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation			37
HP:0001627	HP:0001655	Patent foramen ovale	3	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0001627	HP:0001631	Atrial septal defect	3	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional		14
HP:0001627	HP:0001631	Atrial septal defect	3	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional		12
HP:0001627	HP:0001629	Ventricular septal defect	3	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0001627	HP:0001631	Atrial septal defect	3	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome			12
HP:0001627	HP:0001629	Ventricular septal defect	3	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0001627	HP:0001631	Atrial septal defect	3	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SOS1 CL E G H	6654	11187	OMIM:610733	Noonan syndrome 4			315
HP:0001627	HP:0001629	Ventricular septal defect	3	SOS2 CL E G H	6655	11188	OMIM:616559	NOONAN SYNDROME 9; NS9			30
HP:0001627	HP:0001629	Ventricular septal defect	3	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		14
HP:0001627	HP:0001631	Atrial septal defect	3	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		14
HP:0001627	HP:0001710	Conotruncal defect	3	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome			14
HP:0001627	HP:0001629	Ventricular septal defect	3	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome	HP:0040283 - Occasional		33
HP:0001627	HP:0001629	Ventricular septal defect	3	SOX2 CL E G H	6657	11195	OMIM:206900	Microphthalmia, syndromic 3	.		33
HP:0001627	HP:0001629	Ventricular septal defect	3	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001631	Atrial septal defect	3	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0001627	HP:0001629	Ventricular septal defect	3	SOX4 CL E G H	6659	11200	OMIM:618506	Coffin-Siris syndrome 10	HP:0040284 - Very rare
HP:0001627	HP:0001696	Situs inversus totalis	3	SPAG1 CL E G H	6674	11212	OMIM:615505	Ciliary dyskinesia, primary, 28	.		45
HP:0001627	HP:0001669	Transposition of the great arteries	3	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		45
HP:0001627	HP:0001696	Situs inversus totalis	3	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		45
HP:0001627	HP:0001710	Conotruncal defect	3	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0001627	HP:0011539	Atrial situs ambiguous	3	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		45
HP:0001627	HP:0001631	Atrial septal defect	3	SPATA5 CL E G H	166378	18119	ORPHA:457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	HP:0040284 - Very rare		19
HP:0001627	HP:0001629	Ventricular septal defect	3	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.		6
HP:0001627	HP:0001631	Atrial septal defect	3	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type	.		6
HP:0001627	HP:0001629	Ventricular septal defect	3	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040283 - Occasional		6
HP:0001627	HP:0001631	Atrial septal defect	3	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040283 - Occasional		6
HP:0001627	HP:0001710	Conotruncal defect	3	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome			6
HP:0001627	HP:0001669	Transposition of the great arteries	3	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		15
HP:0001627	HP:0001696	Situs inversus totalis	3	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		15
HP:0001627	HP:0001710	Conotruncal defect	3	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0001627	HP:0011539	Atrial situs ambiguous	3	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		15
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	SPEG CL E G H	10290	16901	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		20
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	SPEG CL E G H	10290	16901	OMIM:615959	Myopathy, centronuclear, 5	.		20
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0001627	HP:0001710	Conotruncal defect	3	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome			4
HP:0001627	HP:0001629	Ventricular septal defect	3	SPEN CL E G H	23013	17575	OMIM:619312	RADIO-TARTAGLIA SYNDROME; RATARS			4
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0001627	HP:0001723	Restrictive cardiomyopathy	3	SPTA1 CL E G H	6708	11272	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		228
HP:0001627	HP:0001723	Restrictive cardiomyopathy	3	SPTB CL E G H	6710	11274	ORPHA:822	Hereditary spherocytosis	HP:0040283 - Occasional		156
HP:0001627	HP:0001629	Ventricular septal defect	3	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001627	HP:0001631	Atrial septal defect	3	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040284 - Very rare		138
HP:0001627	HP:0001631	Atrial septal defect	3	SRCAP CL E G H	10847	16974	OMIM:136140	Floating-Harbor syndrome	HP:0040283 - Occasional		138
HP:0001627	HP:0001710	Conotruncal defect	3	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome			138
HP:0001627	HP:0001648	Cor pulmonale	3	SREBF1 CL E G H	6720	11289	OMIM:158310	Mucoepithelial dysplasia, hereditary	.		1
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis			23
HP:0001627	HP:0001629	Ventricular septal defect	3	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47			9
HP:0001627	HP:0001629	Ventricular septal defect	3	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0001627	HP:0001631	Atrial septal defect	3	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0001627	HP:0001655	Patent foramen ovale	3	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0001627	HP:0001710	Conotruncal defect	3	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0001627	HP:0001629	Ventricular septal defect	3	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.		24
HP:0001627	HP:0001631	Atrial septal defect	3	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.		24
HP:0001627	HP:0001655	Patent foramen ovale	3	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.		24
HP:0001627	HP:0001667	Right ventricular hypertrophy	3	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.		24
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	STAR CL E G H	6770	11359	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare		45
HP:0001627	HP:0001631	Atrial septal defect	3	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome			89
HP:0001627	HP:0001655	Patent foramen ovale	3	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional		89
HP:0001627	HP:0001669	Transposition of the great arteries	3	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		3
HP:0001627	HP:0001696	Situs inversus totalis	3	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		3
HP:0001627	HP:0001710	Conotruncal defect	3	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0001627	HP:0011539	Atrial situs ambiguous	3	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		3
HP:0001627	HP:0001631	Atrial septal defect	3	STK4 CL E G H	6789	11408	OMIM:614868	T-CELL IMMUNODEFICIENCY, RECURRENT INFECTIONS, AND AUTOIMMUNITY WITHOR WITHOUT CARDIAC MALFORMATIONS	.		4
HP:0001627	HP:0001629	Ventricular septal defect	3	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.		71
HP:0001627	HP:0001631	Atrial septal defect	3	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.		71
HP:0001627	HP:0001710	Conotruncal defect	3	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9			71
HP:0001627	HP:0005156	Hypoplastic left atrium	3	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.		71
HP:0001627	HP:0001631	Atrial septal defect	3	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy			6
HP:0001627	HP:0001631	Atrial septal defect	3	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	HP:0040283 - Occasional		6
HP:0001627	HP:0001629	Ventricular septal defect	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001631	Atrial septal defect	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0001627	HP:0001631	Atrial septal defect	3	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040283 - Occasional		60
HP:0001627	HP:0001655	Patent foramen ovale	3	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040284 - Very rare		60
HP:0001627	HP:0001696	Situs inversus totalis	3	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		124
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SUFU CL E G H	51684	16466	OMIM:617757	Joubert syndrome 32	.		124
HP:0001627	HP:0001710	Conotruncal defect	3	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly			124
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		73
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		73
HP:0001627	HP:0001629	Ventricular septal defect	3	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		73
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		73
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.		73
HP:0001627	HP:0001629	Ventricular septal defect	3	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	SVIL CL E G H	6840	11480	OMIM:619040	MYOFIBRILLAR MYOPATHY 10; MFM10			1
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare		1129
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	SYNE1 CL E G H	23345	17089	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		1129
HP:0001627	HP:0005144	Ventricular septal hypertrophy	3	SYNE1 CL E G H	23345	17089	OMIM:612998	Emery-Dreifuss muscular dystrophy 4, autosomal dominant	.		1129
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare		508
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	SYNE2 CL E G H	23224	17084	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		508
HP:0001627	HP:0001631	Atrial septal defect	3	SYT1 CL E G H	6857	11509	ORPHA:522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0011103	Abnormal left ventricular outflow tract morphology	3	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0001627	HP:0001629	Ventricular septal defect	3	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2	.		11
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2			11
HP:0001627	HP:0001710	Conotruncal defect	3	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2			11
HP:0001627	HP:0011103	Abnormal left ventricular outflow tract morphology	3	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2	.		11
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2			11
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome			11
HP:0001627	HP:0001629	Ventricular septal defect	3	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		23
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		23
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TAF1A CL E G H	9015	11532	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40			7
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome			7
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TAFAZZIN CL E G H	6901	11577	OMIM:302060	Barth syndrome	.
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TAFAZZIN CL E G H	6901	11577	ORPHA:111	Barth syndrome	HP:0040281 - Very frequent
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TAFAZZIN CL E G H	6901	11577	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent
HP:0001627	HP:0001629	Ventricular septal defect	3	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.		34
HP:0001627	HP:0001631	Atrial septal defect	3	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.		34
HP:0001627	HP:0001631	Atrial septal defect	3	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency	HP:0040283 - Occasional		34
HP:0001627	HP:0001655	Patent foramen ovale	3	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.		34
HP:0001627	HP:0200128	Biventricular hypertrophy	3	TALDO1 CL E G H	6888	11559	ORPHA:101028	Transaldolase deficiency	HP:0040283 - Occasional		34
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TANGO2 CL E G H	128989	25439	OMIM:616878	Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration	HP:0040283 - Occasional		12
HP:0001627	HP:0001629	Ventricular septal defect	3	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0001627	HP:0001629	Ventricular septal defect	3	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type			2
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type	.		2
HP:0001627	HP:0001629	Ventricular septal defect	3	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0001627	HP:0001629	Ventricular septal defect	3	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0001627	HP:0001631	Atrial septal defect	3	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0001627	HP:0001655	Patent foramen ovale	3	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0001627	HP:0001629	Ventricular septal defect	3	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0001627	HP:0001631	Atrial septal defect	3	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome			271
HP:0001627	HP:0001710	Conotruncal defect	3	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome			271
HP:0001627	HP:0001629	Ventricular septal defect	3	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040283 - Occasional		13
HP:0001627	HP:0001629	Ventricular septal defect	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001631	Atrial septal defect	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0001627	HP:0001629	Ventricular septal defect	3	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		32
HP:0001627	HP:0001631	Atrial septal defect	3	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		32
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0001627	HP:0001710	Conotruncal defect	3	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0001627	HP:0001629	Ventricular septal defect	3	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional		32
HP:0001627	HP:0001669	Transposition of the great arteries	3	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional		32
HP:0001627	HP:0001710	Conotruncal defect	3	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome			32
HP:0001627	HP:0001669	Transposition of the great arteries	3	TBX1 CL E G H	6899	11592	OMIM:217095	Conotruncal heart malformations	.		32
HP:0001627	HP:0001674	Complete atrioventricular canal defect	3	TBX1 CL E G H	6899	11592	OMIM:217095	Conotruncal heart malformations	.		32
HP:0001627	HP:0001710	Conotruncal defect	3	TBX1 CL E G H	6899	11592	OMIM:217095	Conotruncal heart malformations			32
HP:0001627	HP:0001629	Ventricular septal defect	3	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.		32
HP:0001627	HP:0001710	Conotruncal defect	3	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome			32
HP:0001627	HP:0001710	Conotruncal defect	3	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot			32
HP:0001627	HP:0001710	Conotruncal defect	3	TBX1 CL E G H	6899	11592	OMIM:187500	Tetralogy of Fallot			32
HP:0001627	HP:0001629	Ventricular septal defect	3	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0001627	HP:0001710	Conotruncal defect	3	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0001627	HP:0001631	Atrial septal defect	3	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0001627	HP:0001710	Conotruncal defect	3	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION
HP:0001627	HP:0001631	Atrial septal defect	3	TBX20 CL E G H	57057	11598	OMIM:611363	ATRIAL SEPTAL DEFECT 4; ASD4			20
HP:0001627	HP:0001655	Patent foramen ovale	3	TBX20 CL E G H	57057	11598	OMIM:611363	ATRIAL SEPTAL DEFECT 4; ASD4			20
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		20
HP:0001627	HP:0005133	Right ventricular dilatation	3	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		20
HP:0001627	HP:0030718	Right atrial enlargement	3	TBX20 CL E G H	57057	11598	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		20
HP:0001627	HP:0001631	Atrial septal defect	3	TBX22 CL E G H	50945	11600	ORPHA:921	Abruzzo-Erickson syndrome	HP:0040283 - Occasional		28
HP:0001627	HP:0001629	Ventricular septal defect	3	TBX3 CL E G H	6926	11602	ORPHA:3138	Ulnar-mammary syndrome	HP:0040283 - Occasional		100
HP:0001627	HP:0001629	Ventricular septal defect	3	TBX3 CL E G H	6926	11602	OMIM:181450	Ulnar-Mammary syndrome	.		100
HP:0001627	HP:0001631	Atrial septal defect	3	TBX4 CL E G H	9496	11603	ORPHA:261279	17q23.1q23.2 microdeletion syndrome	HP:0040283 - Occasional		55
HP:0001627	HP:0001629	Ventricular septal defect	3	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome	HP:0040282 - Frequent		123
HP:0001627	HP:0001629	Ventricular septal defect	3	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome			123
HP:0001627	HP:0001631	Atrial septal defect	3	TBX5 CL E G H	6910	11604	ORPHA:392	Holt-Oram syndrome	HP:0040282 - Frequent		123
HP:0001627	HP:0001631	Atrial septal defect	3	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome			123
HP:0001627	HP:0001684	Secundum atrial septal defect	3	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome			123
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TCAP CL E G H	8557	11610	OMIM:607487	Cardiomyopathy, familial hypertrophic, 25			78
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	TCAP CL E G H	8557	11610	OMIM:607487	Cardiomyopathy, familial hypertrophic, 25	HP:0040283 - Occasional		78
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TCAP CL E G H	8557	11610	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		78
HP:0001627	HP:0001629	Ventricular septal defect	3	TCIRG1 CL E G H	10312	11647	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		82
HP:0001627	HP:0001696	Situs inversus totalis	3	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		45
HP:0001627	HP:0001696	Situs inversus totalis	3	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		45
HP:0001627	HP:0001696	Situs inversus totalis	3	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		76
HP:0001627	HP:0001696	Situs inversus totalis	3	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		76
HP:0001627	HP:0001629	Ventricular septal defect	3	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18	.		31
HP:0001627	HP:0001696	Situs inversus totalis	3	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		31
HP:0001627	HP:0001710	Conotruncal defect	3	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly			1
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TERT CL E G H	7015	11730	OMIM:613989	Dyskeratosis congenita, autosomal dominant 2	.		238
HP:0001627	HP:0001629	Ventricular septal defect	3	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0001627	HP:0001629	Ventricular septal defect	3	TFAP2B CL E G H	7021	11743	ORPHA:46627	Char syndrome	HP:0040283 - Occasional		104
HP:0001627	HP:0001629	Ventricular septal defect	3	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040282 - Frequent		6
HP:0001627	HP:0001629	Ventricular septal defect	3	TGDS CL E G H	23483	20324	OMIM:616145	Catel-Manzke syndrome	.		6
HP:0001627	HP:0001631	Atrial septal defect	3	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040283 - Occasional		6
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TGFB1 CL E G H	7040	11766	ORPHA:1328	Camurati-Engelmann disease	HP:0040283 - Occasional		13
HP:0001627	HP:0001648	Cor pulmonale	3	TGFB1 CL E G H	7040	11766	OMIM:219700	Cystic fibrosis			13
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			162
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4			162
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4			162
HP:0001627	HP:0011663	Right ventricular cardiomyopathy	3	TGFB3 CL E G H	7043	11769	OMIM:107970	Arrhythmogenic right ventricular dysplasia, familial, 1	.		85
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			85
HP:0001627	HP:0001629	Ventricular septal defect	3	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0001627	HP:0001631	Atrial septal defect	3	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0001627	HP:0001655	Patent foramen ovale	3	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			239
HP:0001627	HP:0001631	Atrial septal defect	3	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection			253
HP:0001627	HP:0001631	Atrial septal defect	3	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0001627	HP:0031566	Abnormal pulmonary valve cusp morphology	3	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0001627	HP:0001710	Conotruncal defect	3	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly			32
HP:0001627	HP:0001629	Ventricular septal defect	3	THOC6 CL E G H	79228	28369	OMIM:613680	Beaulieu-Boycott-Innes syndrome	.		1
HP:0001627	HP:0001629	Ventricular septal defect	3	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome			1
HP:0001627	HP:0001631	Atrial septal defect	3	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12			2
HP:0001627	HP:0001629	Ventricular septal defect	3	TIAM1 CL E G H	7074	11805	OMIM:619908				2
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TKFC CL E G H	26007	24552	ORPHA:1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	HP:0040281 - Very frequent
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TKFC CL E G H	26007	24552	OMIM:618805	TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME; TKFCD
HP:0001627	HP:0001629	Ventricular septal defect	3	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects	.		4
HP:0001627	HP:0001631	Atrial septal defect	3	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects	.		4
HP:0001627	HP:0001655	Patent foramen ovale	3	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects	.		4
HP:0001627	HP:0001629	Ventricular septal defect	3	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040282 - Frequent		4
HP:0001627	HP:0001631	Atrial septal defect	3	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040282 - Frequent		4
HP:0001627	HP:0001655	Patent foramen ovale	3	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040283 - Occasional		4
HP:0001627	HP:0001631	Atrial septal defect	3	TLL1 CL E G H	7092	11843	OMIM:613087	Atrial septal defect 6	.		6
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040282 - Frequent		6
HP:0001627	HP:0005133	Right ventricular dilatation	3	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040282 - Frequent		6
HP:0001627	HP:0030718	Right atrial enlargement	3	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040283 - Occasional		6
HP:0001627	HP:0031295	Left atrial enlargement	3	TLL1 CL E G H	7092	11843	ORPHA:99106	Atrial septal defect, ostium primum type	HP:0040283 - Occasional		6
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		6
HP:0001627	HP:0005133	Right ventricular dilatation	3	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040283 - Occasional		6
HP:0001627	HP:0030718	Right atrial enlargement	3	TLL1 CL E G H	7092	11843	ORPHA:99103	Atrial septal defect, ostium secundum type	HP:0040282 - Frequent		6
HP:0001627	HP:0001631	Atrial septal defect	3	TMCO1 CL E G H	54499	18188	OMIM:213980	Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome	.		6
HP:0001627	HP:0001696	Situs inversus totalis	3	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		4
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TMEM126A CL E G H	84233	25382	OMIM:612989	Optic atrophy 7 with or without auditory neuropathy	HP:0040283 - Occasional		23
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		4
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TMEM126B CL E G H	55863	30883	OMIM:618250	Mitochondrial complex I deficiency, nuclear type 29	.		4
HP:0001627	HP:0001631	Atrial septal defect	3	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0001627	HP:0001655	Patent foramen ovale	3	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0001627	HP:0001696	Situs inversus totalis	3	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		45
HP:0001627	HP:0001696	Situs inversus totalis	3	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001696	Situs inversus totalis	3	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		33
HP:0001627	HP:0001696	Situs inversus totalis	3	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		82
HP:0001627	HP:0001696	Situs inversus totalis	3	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		82
HP:0001627	HP:0001629	Ventricular septal defect	3	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0001627	HP:0001631	Atrial septal defect	3	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0001627	HP:0001710	Conotruncal defect	3	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0001627	HP:0001629	Ventricular septal defect	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001631	Atrial septal defect	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0001627	HP:0011663	Right ventricular cardiomyopathy	3	TMEM43 CL E G H	79188	28472	OMIM:604400	Arrhythmogenic right ventricular dysplasia, familial, 5			171
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040284 - Very rare		171
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TMEM43 CL E G H	79188	28472	ORPHA:98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	HP:0040283 - Occasional		171
HP:0001627	HP:0001629	Ventricular septal defect	3	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0001627	HP:0001696	Situs inversus totalis	3	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		166
HP:0001627	HP:0001696	Situs inversus totalis	3	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		166
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TMEM70 CL E G H	54968	26050	OMIM:614052	Mitochondrial complex V (atp synthase) deficiency, nuclear type 2	.		63
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TMEM70 CL E G H	54968	26050	ORPHA:1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	HP:0040282 - Frequent		63
HP:0001627	HP:0001629	Ventricular septal defect	3	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.		1
HP:0001627	HP:0001631	Atrial septal defect	3	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.		1
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0001627	HP:0001655	Patent foramen ovale	3	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.		1
HP:0001627	HP:0001710	Conotruncal defect	3	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TMPO CL E G H	7112	11875	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		136
HP:0001627	HP:0001629	Ventricular septal defect	3	TNFRSF11A CL E G H	8792	11908	ORPHA:1782	Dysosteosclerosis	HP:0040281 - Very frequent		72
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TNNC1 CL E G H	7134	11943	OMIM:611879	CARDIOMYOPATHY, DILATED, 1Z; CMD1Z			73
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13	.		73
HP:0001627	HP:0200128	Biventricular hypertrophy	3	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13	.		73
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TNNC1 CL E G H	7134	11943	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		73
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TNNI3 CL E G H	7137	11947	OMIM:613286	Cardiomyopathy, dilated, 1ff	.		180
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TNNI3 CL E G H	7137	11947	OMIM:611880	Cardiomyopathy, dilated, 2A	.		180
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TNNI3 CL E G H	7137	11947	OMIM:613690	Cardiomyopathy, familial hypertrophic, 7			180
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	TNNI3 CL E G H	7137	11947	OMIM:115210	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1			180
HP:0001627	HP:0001723	Restrictive cardiomyopathy	3	TNNI3 CL E G H	7137	11947	OMIM:115210	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1			180
HP:0001627	HP:0031295	Left atrial enlargement	3	TNNI3 CL E G H	7137	11947	OMIM:115210	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1			180
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TNNI3 CL E G H	7137	11947	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		180
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		180
HP:0001627	HP:0030718	Right atrial enlargement	3	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent		180
HP:0001627	HP:0031295	Left atrial enlargement	3	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent		180
HP:0001627	HP:0031329	Interstitial cardiac fibrosis	3	TNNI3 CL E G H	7137	11947	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent		180
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TNNI3K CL E G H	51086	19661	OMIM:616117	Cardiac conduction disease with or without dilated cardiomyopathy			1
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D	.		248
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D	HP:0040283 - Occasional		248
HP:0001627	HP:0031192	Abnormal morphology of left ventricular trabeculae	3	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D			248
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TNNT2 CL E G H	7139	11949	OMIM:115195	Cardiomyopathy, familial hypertrophic, 2	.		248
HP:0001627	HP:0005144	Ventricular septal hypertrophy	3	TNNT2 CL E G H	7139	11949	OMIM:115195	Cardiomyopathy, familial hypertrophic, 2			248
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TNNT2 CL E G H	7139	11949	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		248
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040283 - Occasional		248
HP:0001627	HP:0030718	Right atrial enlargement	3	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent		248
HP:0001627	HP:0031295	Left atrial enlargement	3	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent		248
HP:0001627	HP:0031329	Interstitial cardiac fibrosis	3	TNNT2 CL E G H	7139	11949	ORPHA:75249	Familial isolated restrictive cardiomyopathy	HP:0040282 - Frequent		248
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1			134
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like			134
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like			134
HP:0001627	HP:0001696	Situs inversus totalis	3	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001631	Atrial septal defect	3	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
HP:0001627	HP:0001655	Patent foramen ovale	3	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TOP3A CL E G H	7156	11992	OMIM:618097	Microcephaly, growth restriction, and increased sister chromatid exchange 2	HP:0040284 - Very rare
HP:0001627	HP:0001629	Ventricular septal defect	3	TP63 CL E G H	8626	15979	OMIM:106260	Ankyloblepharon-Ectodermal defects-cleft lip/palate	.		140
HP:0001627	HP:0001696	Situs inversus totalis	3	TP63 CL E G H	8626	15979	ORPHA:199302	Isolated cleft lip	HP:0040284 - Very rare		140
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TPI1 CL E G H	7167	12009	ORPHA:868	Triose phosphate-isomerase deficiency	HP:0040283 - Occasional		28
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)	HP:0040283 - Occasional		21
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TPM1 CL E G H	7168	12010	OMIM:611878	Cardiomyopathy, dilated, 1Y	.		230
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	TPM1 CL E G H	7168	12010	OMIM:611878	Cardiomyopathy, dilated, 1Y			230
HP:0001627	HP:0012817	Noncompaction cardiomyopathy	3	TPM1 CL E G H	7168	12010	OMIM:611878	Cardiomyopathy, dilated, 1Y			230
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TPM1 CL E G H	7168	12010	OMIM:115196	Cardiomyopathy, familial hypertrophic, 3	.		230
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TPM1 CL E G H	7168	12010	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		230
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy			54
HP:0001627	HP:0001648	Cor pulmonale	3	TPM2 CL E G H	7169	12011	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		54
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TPM2 CL E G H	7169	12011	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		54
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy			108
HP:0001627	HP:0001648	Cor pulmonale	3	TPM3 CL E G H	7170	12012	ORPHA:2020	Congenital fiber-type disproportion myopathy	HP:0040283 - Occasional		108
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TPM3 CL E G H	7170	12012	OMIM:255310	Myopathy, congenital, with fiber-type disproportion	.		108
HP:0001627	HP:0001710	Conotruncal defect	3	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay
HP:0001627	HP:0001629	Ventricular septal defect	3	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9	.		2
HP:0001627	HP:0001631	Atrial septal defect	3	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9	.		2
HP:0001627	HP:0005133	Right ventricular dilatation	3	TRAPPC11 CL E G H	60684	25751	ORPHA:369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome	HP:0040283 - Occasional		27
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TRDN CL E G H	10345	12261	OMIM:604772	VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 1, WITH OR WITHOUT ATRIAL DYSFUNCTION AND/OR DILATED CARDIOMYOPATHY; CPVT1			145
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040284 - Very rare		56
HP:0001627	HP:0001629	Ventricular septal defect	3	TRIM8 CL E G H	81603	15579	ORPHA:1934	Early infantile epileptic encephalopathy	HP:0040284 - Very rare		1
HP:0001627	HP:0001629	Ventricular septal defect	3	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0001627	HP:0001631	Atrial septal defect	3	TRIO CL E G H	7204	12303	OMIM:617061	Mental retardation, autosomal dominant 44			8
HP:0001627	HP:0001674	Complete atrioventricular canal defect	3	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional		8
HP:0001627	HP:0001631	Atrial septal defect	3	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		2
HP:0001627	HP:0011103	Abnormal left ventricular outflow tract morphology	3	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome			2
HP:0001627	HP:0001631	Atrial septal defect	3	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0001627	HP:0001655	Patent foramen ovale	3	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0001627	HP:0001684	Secundum atrial septal defect	3	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30	HP:0040283 - Occasional		3
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TRMT5 CL E G H	57570	23141	OMIM:616539	Combined oxidative phosphorylation deficiency 26			4
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	TRNC CL E G H	4511	7477	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TRNE CL E G H	4556	7479	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040282 - Frequent
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	TRNF CL E G H	4558	7481	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TRNK CL E G H	4566	7489	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040282 - Frequent
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040281 - Very frequent
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TRNK CL E G H	4566	7489	ORPHA:1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	HP:0040282 - Frequent
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	TRNK CL E G H	4566	7489	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TRNL1 CL E G H	4567	7490	ORPHA:225	Maternally-inherited diabetes and deafness	HP:0040282 - Frequent
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	TRNL1 CL E G H	4567	7490	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	TRNQ CL E G H	4572	7495	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	TRNS1 CL E G H	4574	7497	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	TRNS2 CL E G H	4575	7498	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	TRNV CL E G H	4577	7500	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	TRNW CL E G H	4578	7501	OMIM:540000	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	.
HP:0001627	HP:0001629	Ventricular septal defect	3	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0001627	HP:0001631	Atrial septal defect	3	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism			2
HP:0001627	HP:0001655	Patent foramen ovale	3	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0001627	HP:0011852	Chylopericardium	3	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional		1090
HP:0001627	HP:0011852	Chylopericardium	3	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional		2738
HP:0001627	HP:0001631	Atrial septal defect	3	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3			43
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3			43
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	HP:0040283 - Occasional		43
HP:0001627	HP:0001655	Patent foramen ovale	3	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.		43
HP:0001627	HP:0001629	Ventricular septal defect	3	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0001627	HP:0001631	Atrial septal defect	3	TSR2 CL E G H	90121	25455	ORPHA:124	Blackfan-Diamond anemia	HP:0040283 - Occasional		1
HP:0001627	HP:0001669	Transposition of the great arteries	3	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001696	Situs inversus totalis	3	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0001627	HP:0011539	Atrial situs ambiguous	3	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001629	Ventricular septal defect	3	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001627	HP:0001631	Atrial septal defect	3	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001627	HP:0001655	Patent foramen ovale	3	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001627	HP:0001684	Secundum atrial septal defect	3	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001627	HP:0001696	Situs inversus totalis	3	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001627	HP:0010445	Primum atrial septal defect	3	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001627	HP:0011579	Unbalanced atrioventricular canal defect	3	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001627	HP:0001629	Ventricular septal defect	3	TTC7A CL E G H	57217	19750	ORPHA:436252	Combined immunodeficiency-enteropathy spectrum	HP:0040284 - Very rare		26
HP:0001627	HP:0001629	Ventricular septal defect	3	TTC7A CL E G H	57217	19750	OMIM:243150	Gastrointestinal defects and immunodeficiency syndrome	HP:0040283 - Occasional		26
HP:0001627	HP:0001696	Situs inversus totalis	3	TTC8 CL E G H	123016	20087	OMIM:615985	Bardet-Biedl syndrome 8	HP:0040283 - Occasional		41
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	TTN CL E G H	7273	12403	ORPHA:169186	Autosomal recessive centronuclear myopathy	HP:0040283 - Occasional		7128
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TTN CL E G H	7273	12403	OMIM:604145	CARDIOMYOPATHY, DILATED, 1G; CMD1G			7128
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TTN CL E G H	7273	12403	OMIM:613765	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9; CMH9			7128
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy			7128
HP:0001627	HP:0001667	Right ventricular hypertrophy	3	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040283 - Occasional		7128
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TTN CL E G H	7273	12403	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		7128
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TTN CL E G H	7273	12403	OMIM:611705	Salih myopathy	.		7128
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TTPA CL E G H	7274	12404	ORPHA:96	Ataxia with vitamin E deficiency	HP:0040283 - Occasional		62
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis			107
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis			107
HP:0001627	HP:0001723	Restrictive cardiomyopathy	3	TTR CL E G H	7276	12405	ORPHA:85451	ATTRV122I amyloidosis			107
HP:0001627	HP:0001629	Ventricular septal defect	3	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare		14
HP:0001627	HP:0001631	Atrial septal defect	3	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare		14
HP:0001627	HP:0001710	Conotruncal defect	3	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome			14
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TULP3 CL E G H	7289	12425	OMIM:619902
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		113
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	TWNK CL E G H	56652	1160	ORPHA:254892	Autosomal dominant progressive external ophthalmoplegia	HP:0040283 - Occasional		113
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis	.		113
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TWNK CL E G H	56652	1160	ORPHA:70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	HP:0040283 - Occasional		113
HP:0001627	HP:0001696	Situs inversus totalis	3	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		2
HP:0001627	HP:0001629	Ventricular septal defect	3	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.		19
HP:0001627	HP:0001631	Atrial septal defect	3	TXNL4A CL E G H	10907	30551	OMIM:608572	Burn-Mckeown syndrome	.		19
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	TXNRD2 CL E G H	10587	18155	ORPHA:361	Familial glucocorticoid deficiency	HP:0040284 - Very rare		85
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	TXNRD2 CL E G H	10587	18155	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		85
HP:0001627	HP:0001629	Ventricular septal defect	3	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040282 - Frequent		7
HP:0001627	HP:0001631	Atrial septal defect	3	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0001627	HP:0001655	Patent foramen ovale	3	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional		7
HP:0001627	HP:0001710	Conotruncal defect	3	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type			7
HP:0001627	HP:0001631	Atrial septal defect	3	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		2
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		2
HP:0001627	HP:0001710	Conotruncal defect	3	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0001627	HP:0001629	Ventricular septal defect	3	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome	.		13
HP:0001627	HP:0001631	Atrial septal defect	3	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome			13
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0001627	HP:0001629	Ventricular septal defect	3	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.		25
HP:0001627	HP:0001631	Atrial septal defect	3	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.		25
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	HP:0040283 - Occasional		25
HP:0001627	HP:0001696	Situs inversus totalis	3	UBR1 CL E G H	197131	16808	OMIM:243800	Johanson-Blizzard syndrome	.		25
HP:0001627	HP:0001629	Ventricular septal defect	3	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0001627	HP:0001631	Atrial septal defect	3	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0001627	HP:0001655	Patent foramen ovale	3	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	UCP2 CL E G H	7351	12518	ORPHA:276556	Hyperinsulinism due to UCP2 deficiency	HP:0040283 - Occasional		15
HP:0001627	HP:0001629	Ventricular septal defect	3	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001627	HP:0001631	Atrial septal defect	3	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0001710	Conotruncal defect	3	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0001627	HP:0001629	Ventricular septal defect	3	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria	HP:0040283 - Occasional		135
HP:0001627	HP:0001631	Atrial septal defect	3	UMPS CL E G H	7372	12563	OMIM:258900	Orotic aciduria	HP:0040283 - Occasional		135
HP:0001627	HP:0001631	Atrial septal defect	3	UPF3B CL E G H	65109	20439	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent		33
HP:0001627	HP:0001631	Atrial septal defect	3	UQCRC2 CL E G H	7385	12586	OMIM:615160	Mitochondrial complex III deficiency, nuclear type 5			17
HP:0001627	HP:0001629	Ventricular septal defect	3	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	UQCRFS1 CL E G H	7386	12587	OMIM:618775	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10; MC3DN10
HP:0001627	HP:0001631	Atrial septal defect	3	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2			2
HP:0001627	HP:0001684	Secundum atrial septal defect	3	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2			2
HP:0001627	HP:0001631	Atrial septal defect	3	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted	.		27
HP:0001627	HP:0001631	Atrial septal defect	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:0001627	HP:0001629	Ventricular septal defect	3	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040282 - Frequent		6
HP:0001627	HP:0001631	Atrial septal defect	3	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional		6
HP:0001627	HP:0001710	Conotruncal defect	3	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20			56
HP:0001627	HP:0031192	Abnormal morphology of left ventricular trabeculae	3	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20			56
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	VCL CL E G H	7414	12665	OMIM:611407	CARDIOMYOPATHY, DILATED, 1W; CMD1W			248
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15	.		248
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	VCL CL E G H	7414	12665	ORPHA:154	Familial isolated dilated cardiomyopathy	HP:0040281 - Very frequent		248
HP:0001627	HP:0001629	Ventricular septal defect	3	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.		27
HP:0001627	HP:0001667	Right ventricular hypertrophy	3	VIPAS39 CL E G H	63894	20347	OMIM:613404	Arthrogryposis, renal dysfunction, and cholestasis 2	.		27
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040284 - Very rare		130
HP:0001627	HP:0001629	Ventricular septal defect	3	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040283 - Occasional		546
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome			546
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome			546
HP:0001627	HP:0001631	Atrial septal defect	3	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040282 - Frequent		1
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040282 - Frequent		1
HP:0001627	HP:0001655	Patent foramen ovale	3	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional		1
HP:0001627	HP:0001631	Atrial septal defect	3	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	VPS33A CL E G H	65082	18179	OMIM:617303	Mucopolysaccharidosis-Plus syndrome			1
HP:0001627	HP:0001629	Ventricular septal defect	3	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.		63
HP:0001627	HP:0001631	Atrial septal defect	3	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.		63
HP:0001627	HP:0001655	Patent foramen ovale	3	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0001627	HP:0001667	Right ventricular hypertrophy	3	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1	.		63
HP:0001627	HP:0001629	Ventricular septal defect	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001631	Atrial septal defect	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001710	Conotruncal defect	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1			533
HP:0001627	HP:0001629	Ventricular septal defect	3	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:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion			20
HP:0001627	HP:0001629	Ventricular septal defect	3	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent		83
HP:0001627	HP:0001631	Atrial septal defect	3	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent		83
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent		83
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent		83
HP:0001627	HP:0001710	Conotruncal defect	3	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0001627	HP:0001629	Ventricular septal defect	3	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.		83
HP:0001627	HP:0001631	Atrial septal defect	3	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.		83
HP:0001627	HP:0001710	Conotruncal defect	3	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0001627	HP:0001629	Ventricular septal defect	3	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0001627	HP:0001674	Complete atrioventricular canal defect	3	WDPCP CL E G H	51057	28027	OMIM:217085	Congenital heart defects, hamartomas of tongue, and polysyndactyly	.		60
HP:0001627	HP:0011103	Abnormal left ventricular outflow tract morphology	3	WDPCP CL E G H	51057	28027	OMIM:217085	Congenital heart defects, hamartomas of tongue, and polysyndactyly			60
HP:0001627	HP:0011103	Abnormal left ventricular outflow tract morphology	3	WDPCP CL E G H	51057	28027	ORPHA:1338	Heart defect-tongue hamartoma-polysyndactyly syndrome			60
HP:0001627	HP:0001629	Ventricular septal defect	3	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional		8
HP:0001627	HP:0001631	Atrial septal defect	3	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0001627	HP:0001655	Patent foramen ovale	3	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0001627	HP:0001629	Ventricular septal defect	3	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0001627	HP:0001631	Atrial septal defect	3	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0001627	HP:0001655	Patent foramen ovale	3	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0001627	HP:0001631	Atrial septal defect	3	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0001627	HP:0001655	Patent foramen ovale	3	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0001627	HP:0001629	Ventricular septal defect	3	WNT4 CL E G H	54361	12783	OMIM:611812	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	.		4
HP:0001627	HP:0001629	Ventricular septal defect	3	WNT4 CL E G H	54361	12783	ORPHA:139466	SERKAL syndrome	HP:0040282 - Frequent		4
HP:0001627	HP:0001629	Ventricular septal defect	3	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001627	HP:0001629	Ventricular septal defect	3	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040283 - Occasional		177
HP:0001627	HP:0001631	Atrial septal defect	3	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001627	HP:0001631	Atrial septal defect	3	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040283 - Occasional		177
HP:0001627	HP:0001669	Transposition of the great arteries	3	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040283 - Occasional		177
HP:0001627	HP:0001669	Transposition of the great arteries	3	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001627	HP:0001696	Situs inversus totalis	3	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040283 - Occasional		177
HP:0001627	HP:0001710	Conotruncal defect	3	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001627	HP:0001710	Conotruncal defect	3	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040283 - Occasional		177
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	XK CL E G H	7504	12811	OMIM:300842	Mcleod syndrome	.		8
HP:0001627	HP:0001631	Atrial septal defect	3	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		125
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		125
HP:0001627	HP:0001710	Conotruncal defect	3	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0001627	HP:0001644	Dilated cardiomyopathy	3	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction			9
HP:0001627	HP:0001629	Ventricular septal defect	3	XYLT1 CL E G H	64131	15516	ORPHA:1425	Desbuquois syndrome	HP:0040282 - Frequent		14
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			14
HP:0001627	HP:0001723	Restrictive cardiomyopathy	3	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			14
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			5
HP:0001627	HP:0001723	Restrictive cardiomyopathy	3	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			5
HP:0001627	HP:0001629	Ventricular septal defect	3	XYLT2 CL E G H	64132	15517	ORPHA:85194	Spondylo-ocular syndrome	HP:0040282 - Frequent		5
HP:0001627	HP:0001631	Atrial septal defect	3	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome	.		5
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0001627	HP:0005176	Dysplastic aortic valve	3	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome			5
HP:0001627	HP:0001629	Ventricular septal defect	3	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0001627	HP:0001639	Hypertrophic cardiomyopathy	3	YARS2 CL E G H	51067	24249	OMIM:613561	Myopathy, lactic acidosis, and sideroblastic anemia 2	HP:0040283 - Occasional		45
HP:0001627	HP:0001631	Atrial septal defect	3	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0001627	HP:0001631	Atrial septal defect	3	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0001627	HP:0001655	Patent foramen ovale	3	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0001627	HP:0001655	Patent foramen ovale	3	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional		7
HP:0001627	HP:0001702	Abnormal tricuspid valve morphology	3	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome			7
HP:0001627	HP:0001629	Ventricular septal defect	3	YY1AP1 CL E G H	55249	30935	ORPHA:79094	Grange syndrome	HP:0040283 - Occasional		5
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	YY1AP1 CL E G H	55249	30935	OMIM:602531	Grange syndrome			5
HP:0001627	HP:0001629	Ventricular septal defect	3	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0001627	HP:0001631	Atrial septal defect	3	ZBTB7A CL E G H	51341	18078	OMIM:619769	MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN; MNDLFH
HP:0001627	HP:0001631	Atrial septal defect	3	ZDHHC9 CL E G H	51114	18475	ORPHA:776	Lujan-Fryns syndrome	HP:0040282 - Frequent		10
HP:0001627	HP:0001629	Ventricular septal defect	3	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.		362
HP:0001627	HP:0001631	Atrial septal defect	3	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.		362
HP:0001627	HP:0001629	Ventricular septal defect	3	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare		362
HP:0001627	HP:0001710	Conotruncal defect	3	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation			362
HP:0001627	HP:0001710	Conotruncal defect	3	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22			362
HP:0001627	HP:0001710	Conotruncal defect	3	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot			31
HP:0001627	HP:0001710	Conotruncal defect	3	ZFPM2 CL E G H	23414	16700	OMIM:187500	Tetralogy of Fallot			31
HP:0001627	HP:0001710	Conotruncal defect	3	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly			34
HP:0001627	HP:0001629	Ventricular septal defect	3	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0001631	Atrial septal defect	3	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked	.		39
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0001655	Patent foramen ovale	3	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0001669	Transposition of the great arteries	3	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0001674	Complete atrioventricular canal defect	3	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0001710	Conotruncal defect	3	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0011103	Abnormal left ventricular outflow tract morphology	3	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0011536	Right atrial isomerism	3	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0011560	Mitral atresia	3	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked	.		39
HP:0001627	HP:0001669	Transposition of the great arteries	3	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked	.		39
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040282 - Frequent		83
HP:0001627	HP:0004380	Aortic valve calcification	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		83
HP:0001627	HP:0004382	Mitral valve calcification	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		83
HP:0001627	HP:0001631	Atrial septal defect	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		83
HP:0001627	HP:0001669	Transposition of the great arteries	3	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional		83
HP:0001627	HP:0001631	Atrial septal defect	3	ZMPSTE24 CL E G H	10269	12877	OMIM:275210	Restrictive dermopathy, lethal	.		83
HP:0001627	HP:0001629	Ventricular septal defect	3	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0001627	HP:0001631	Atrial septal defect	3	ZMYM2 CL E G H	7750	12989	OMIM:619522	NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES; NECRC
HP:0001627	HP:0001696	Situs inversus totalis	3	ZMYND10 CL E G H	51364	19412	OMIM:615444	Ciliary dyskinesia, primary, 22	.		20
HP:0001627	HP:0001669	Transposition of the great arteries	3	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		20
HP:0001627	HP:0001696	Situs inversus totalis	3	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040283 - Occasional		20
HP:0001627	HP:0001710	Conotruncal defect	3	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0001627	HP:0011539	Atrial situs ambiguous	3	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		20
HP:0001627	HP:0001696	Situs inversus totalis	3	ZNF423 CL E G H	23090	16762	OMIM:614844	Nephronophthisis 14	HP:0040283 - Occasional		49
HP:0001627	HP:0001629	Ventricular septal defect	3	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0001627	HP:0001669	Transposition of the great arteries	3	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0001627	HP:0031567	Abnormal aortic valve cusp morphology	3	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome			397
HP:0001627	HP:0001633	Abnormal mitral valve morphology	3	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome			397
HP:0001627	HP:0001712	Left ventricular hypertrophy	3	ZNF687 CL E G H	57592	29277	OMIM:616833	Paget disease of bone 6	HP:0040283 - Occasional		2
HP:0001627	HP:0001629	Ventricular septal defect	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001627	HP:0001631	Atrial septal defect	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001627	HP:0001655	Patent foramen ovale	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001627	HP:0005164	Dysplastic pulmonary valve	3	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001627	HP:0011549	Univentricular heart with absent left sided atrioventricular connection	4	CL E G H
HP:0001627	HP:0011550	Biventricular heart with straddling right sided atrioventricular valve and absent left sided atrioventricular connection	4	CL E G H
HP:0001627	HP:0011551	Right sided atrium to left ventricle and absent left sided atrioventricular connection	4	CL E G H
HP:0001627	HP:0011557	Double inlet to single ventricle of indeterminate morphology	4	CL E G H
HP:0001627	HP:0011558	Double inlet to single ventricle with common atrioventricular orifice	4	CL E G H
HP:0001627	HP:0011559	Double inlet to single ventricle with two atrioventricular valves	4	CL E G H
HP:0001627	HP:0011564	Mitral valve arcade	4	CL E G H
HP:0001627	HP:0011567	Sinus venosus atrial septal defect	4	CL E G H
HP:0001627	HP:0011568	Double orifice mitral valve	4	CL E G H
HP:0001627	HP:0011572	Supramitral ring	4	CL E G H
HP:0001627	HP:0011621	Gerbode ventricular septal defect	4	CL E G H
HP:0001627	HP:0011659	Tetralogy of Fallot with absent pulmonary valve	4	CL E G H
HP:0001627	HP:0011683	Restrictive ventricular septal defect	4	CL E G H
HP:0001627	HP:0011684	Non-restrictive ventricular septal defect	4	CL E G H
HP:0001627	HP:0012561	Unicuspid aortic valve	4	CL E G H
HP:0001627	HP:0012816	Right ventricular noncompaction cardiomyopathy	4	CL E G H
HP:0001627	HP:0012818	Biventricular noncompaction cardiomyopathy	4	CL E G H
HP:0001627	HP:0025446	Anomalous insertion of papillary muscle directly into anterior mitral leaflet	4	CL E G H
HP:0001627	HP:0025447	Displacement of the papillary muscles	4	CL E G H
HP:0001627	HP:0030958	Membranous ventricular septal aneurysm	4	CL E G H
HP:0001627	HP:0030959	Muscular ventricular septal aneurysm	4	CL E G H
HP:0001627	HP:0031017	Swiss cheese atrial septal defect	4	CL E G H
HP:0001627	HP:0031194	Increased density of left ventricular trabeculae	4	CL E G H
HP:0001627	HP:0031195	Apical hypertrabeculation of the left ventricle	4	CL E G H
HP:0001627	HP:0031196	Thin myocardium compact layer	4	CL E G H
HP:0001627	HP:0031297	Unroofed coronary sinus	4	CL E G H
HP:0001627	HP:0031349	Levotransposition of the great arteries	4	CL E G H
HP:0001627	HP:0031441	Abnormal tricuspid valve annulus morphology	4	CL E G H
HP:0001627	HP:0031443	Abnormal tricuspid valve leaflet morphology	4	CL E G H
HP:0001627	HP:0031478	Abnormal mitral valve annulus morphology	4	CL E G H
HP:0001627	HP:0031479	Dilatation of the mitral annulus	4	CL E G H
HP:0001627	HP:0031480	Abnormal mitral valve leaflet morphology	4	CL E G H
HP:0001627	HP:0031569	Absent aortic valve cusps	4	CL E G H
HP:0001627	HP:0033538	Aortic annulus calcification	4	CL E G H
HP:0001627	HP:0033641	Aortic valve leaflet calcification	4	CL E G H
HP:0001627	HP:0033642	Mitral valve leaflet calcification	4	CL E G H
HP:0001627	HP:0001634	Mitral valve prolapse	4	ABCC6 CL E G H	368	57	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional		415
HP:0001627	HP:0001634	Mitral valve prolapse	4	ABCC6 CL E G H	368	57	OMIM:177850	Pseudoxanthoma elasticum, forme fruste	.		415
HP:0001627	HP:0001634	Mitral valve prolapse	4	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			415
HP:0001627	HP:0001647	Bicuspid aortic valve	4	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.		254
HP:0001627	HP:0005129	Congenital hypertrophy of left ventricle	4	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.		254
HP:0001627	HP:0001655	Patent foramen ovale	4	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040283 - Occasional		200
HP:0001627	HP:0001647	Bicuspid aortic valve	4	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		94
HP:0001627	HP:0001647	Bicuspid aortic valve	4	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.		72
HP:0001627	HP:0030682	Left ventricular noncompaction	4	ACTC1 CL E G H	70	143	OMIM:613424	Cardiomyopathy, dilated, 1R	HP:0040283 - Occasional		208
HP:0001627	HP:0031971	Subaortic ventricular septal bulge	4	ACTC1 CL E G H	70	143	OMIM:612098	Cardiomyopathy, familial hypertrophic, 11			208
HP:0001627	HP:0030682	Left ventricular noncompaction	4	ACTN2 CL E G H	88	164	OMIM:612158	Cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction	HP:0040283 - Occasional		307
HP:0001627	HP:0031348	Dextrotransposition of the great arteries	4	ACVR2B CL E G H	93	174	OMIM:613751	Heterotaxy, visceral, 4, autosomal			161
HP:0001627	HP:0001647	Bicuspid aortic valve	4	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome			22
HP:0001627	HP:0001647	Bicuspid aortic valve	4	ADAMTS19 CL E G H	171019	17111	OMIM:620067				1
HP:0001627	HP:0001682	Subvalvular aortic stenosis	4	ADAMTS19 CL E G H	171019	17111	OMIM:620067				1
HP:0001627	HP:0001684	Secundum atrial septal defect	4	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0001627	HP:0001634	Mitral valve prolapse	4	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040282 - Frequent
HP:0001627	HP:0001634	Mitral valve prolapse	4	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2	.
HP:0001627	HP:0001655	Patent foramen ovale	4	AFF4 CL E G H	27125	17869	OMIM:616368	CHOPS syndrome			6
HP:0001627	HP:0001655	Patent foramen ovale	4	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:0001627	HP:0001647	Bicuspid aortic valve	4	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0001627	HP:0001655	Patent foramen ovale	4	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0001627	HP:0001655	Patent foramen ovale	4	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040284 - Very rare		68
HP:0001627	HP:0011623	Muscular ventricular septal defect	4	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040284 - Very rare		68
HP:0001627	HP:0001655	Patent foramen ovale	4	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig	.		68
HP:0001627	HP:0001634	Mitral valve prolapse	4	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional
HP:0001627	HP:0011682	Perimembranous ventricular septal defect	4	ALG8 CL E G H	79053	23161	OMIM:608104	Congenital disorder of glycosylation, type Ih			46
HP:0001627	HP:0001634	Mitral valve prolapse	4	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional		93
HP:0001627	HP:0005157	Concentric hypertrophic cardiomyopathy	4	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27			89
HP:0001627	HP:0001636	Tetralogy of Fallot	4	ALX1 CL E G H	8092	1494	ORPHA:306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	HP:0040283 - Occasional		5
HP:0001627	HP:0001636	Tetralogy of Fallot	4	ALX3 CL E G H	257	449	OMIM:136760	Frontonasal dysplasia 1	.		9
HP:0001627	HP:0001655	Patent foramen ovale	4	AMMECR1 CL E G H	9949	467	OMIM:300990	Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis			2
HP:0001627	HP:0001655	Patent foramen ovale	4	ANAPC7 CL E G H	51434	17380	OMIM:619699	FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME; FERBON
HP:0001627	HP:0001634	Mitral valve prolapse	4	ANK1 CL E G H	286	492	ORPHA:251066	8p11.2 deletion syndrome	HP:0040283 - Occasional		150
HP:0001627	HP:0001636	Tetralogy of Fallot	4	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		147
HP:0001627	HP:0001636	Tetralogy of Fallot	4	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0001627	HP:0001647	Bicuspid aortic valve	4	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1			147
HP:0001627	HP:0001636	Tetralogy of Fallot	4	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		88
HP:0001627	HP:0001636	Tetralogy of Fallot	4	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		219
HP:0001627	HP:0001636	Tetralogy of Fallot	4	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.		219
HP:0001627	HP:0001636	Tetralogy of Fallot	4	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		25
HP:0001627	HP:0031568	Thickened aortic valve cusp	4	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0001627	HP:0001636	Tetralogy of Fallot	4	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		1
HP:0001627	HP:0011662	Tricuspid atresia	4	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001655	Patent foramen ovale	4	ASCC1 CL E G H	51008	24268	OMIM:616867	Spinal muscular atrophy with congenital bone fractures 2			2
HP:0001627	HP:0001655	Patent foramen ovale	4	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies			16
HP:0001627	HP:0001684	Secundum atrial septal defect	4	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0001627	HP:0011623	Muscular ventricular septal defect	4	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome			140
HP:0001627	HP:0001719	Double outlet right ventricle	4	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional		5
HP:0001627	HP:0001634	Mitral valve prolapse	4	ATP6V1E1 CL E G H	529	857	OMIM:617402	Cutis laxa, autosomal recessive, type IIC	.		2
HP:0001627	HP:0011682	Perimembranous ventricular septal defect	4	ATRX CL E G H	546	886	OMIM:301040	Alpha-Thalassemia/mental retardation syndrome, X-linked	.		169
HP:0001627	HP:0001634	Mitral valve prolapse	4	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional		38
HP:0001627	HP:0001647	Bicuspid aortic valve	4	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.		38
HP:0001627	HP:0001634	Mitral valve prolapse	4	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		5
HP:0001627	HP:0001647	Bicuspid aortic valve	4	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		5
HP:0001627	HP:0001655	Patent foramen ovale	4	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		5
HP:0001627	HP:0005182	Bicuspid pulmonary valve	4	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040284 - Very rare		36
HP:0001627	HP:0001634	Mitral valve prolapse	4	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001627	HP:0001636	Tetralogy of Fallot	4	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001647	Bicuspid aortic valve	4	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001647	Bicuspid aortic valve	4	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2	HP:0040283 - Occasional		97
HP:0001627	HP:0001647	Bicuspid aortic valve	4	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS			2
HP:0001627	HP:0001634	Mitral valve prolapse	4	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001627	HP:0001636	Tetralogy of Fallot	4	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001647	Bicuspid aortic valve	4	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001647	Bicuspid aortic valve	4	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.		101
HP:0001627	HP:0001634	Mitral valve prolapse	4	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.		101
HP:0001627	HP:0001719	Double outlet right ventricle	4	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2			101
HP:0001627	HP:0001634	Mitral valve prolapse	4	BCOR CL E G H	54880	20893	ORPHA:2712	Oculofaciocardiodental syndrome	HP:0040283 - Occasional		101
HP:0001627	HP:0001634	Mitral valve prolapse	4	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional		5
HP:0001627	HP:0001636	Tetralogy of Fallot	4	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0001627	HP:0001655	Patent foramen ovale	4	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0001627	HP:0011682	Perimembranous ventricular septal defect	4	BMP2 CL E G H	650	1069	OMIM:617877	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies	.		13
HP:0001627	HP:0001636	Tetralogy of Fallot	4	BRAF CL E G H	673	1097	OMIM:613707	Leopard syndrome 3			276
HP:0001627	HP:0001634	Mitral valve prolapse	4	BRAF CL E G H	673	1097	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent		276
HP:0001627	HP:0001636	Tetralogy of Fallot	4	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		5769
HP:0001627	HP:0001636	Tetralogy of Fallot	4	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		7642
HP:0001627	HP:0001634	Mitral valve prolapse	4	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional		7
HP:0001627	HP:0001634	Mitral valve prolapse	4	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome			7
HP:0001627	HP:0001636	Tetralogy of Fallot	4	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1086
HP:0001627	HP:0001682	Subvalvular aortic stenosis	4	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		5
HP:0001627	HP:0001682	Subvalvular aortic stenosis	4	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		76
HP:0001627	HP:0001682	Subvalvular aortic stenosis	4	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001634	Mitral valve prolapse	4	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001627	HP:0001636	Tetralogy of Fallot	4	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001647	Bicuspid aortic valve	4	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001636	Tetralogy of Fallot	4	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome	HP:0040283 - Occasional		572
HP:0001627	HP:0001655	Patent foramen ovale	4	CACNA1C CL E G H	775	1390	OMIM:601005	Timothy syndrome	HP:0040283 - Occasional		572
HP:0001627	HP:0001655	Patent foramen ovale	4	CACNA1D CL E G H	776	1391	OMIM:615474	Primary aldosteronism, seizures, and neurologic abnormalities	HP:0040283 - Occasional		51
HP:0001627	HP:0030682	Left ventricular noncompaction	4	CALM2 CL E G H	805	1445	OMIM:616249	Long QT syndrome 15			13
HP:0001627	HP:0011682	Perimembranous ventricular septal defect	4	CALM3 CL E G H	808	1449	OMIM:618782	LONG QT SYNDROME 16; LQT16			16
HP:0001627	HP:0001647	Bicuspid aortic valve	4	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0001627	HP:0001636	Tetralogy of Fallot	4	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		3
HP:0001627	HP:0001670	Asymmetric septal hypertrophy	4	CAV3 CL E G H	859	1529	OMIM:192600	Cardiomyopathy, familial hypertrophic 1	.		148
HP:0001627	HP:0001682	Subvalvular aortic stenosis	4	CAV3 CL E G H	859	1529	OMIM:192600	Cardiomyopathy, familial hypertrophic 1	.		148
HP:0001627	HP:0001647	Bicuspid aortic valve	4	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.		317
HP:0001627	HP:0001634	Mitral valve prolapse	4	CBS CL E G H	875	1550	OMIM:236200	Homocystinuria due to cystathionine beta-synthase deficiency	.		242
HP:0001627	HP:0001719	Double outlet right ventricle	4	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		36
HP:0001627	HP:0001636	Tetralogy of Fallot	4	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent		33
HP:0001627	HP:0001719	Double outlet right ventricle	4	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		126
HP:0001627	HP:0001719	Double outlet right ventricle	4	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		182
HP:0001627	HP:0001719	Double outlet right ventricle	4	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		23
HP:0001627	HP:0001719	Double outlet right ventricle	4	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		23
HP:0001627	HP:0011560	Mitral atresia	4	CCNQ CL E G H	92002	28434	ORPHA:140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	HP:0040283 - Occasional		7
HP:0001627	HP:0001647	Bicuspid aortic valve	4	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.		7
HP:0001627	HP:0001655	Patent foramen ovale	4	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0001627	HP:0001636	Tetralogy of Fallot	4	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0001627	HP:0001655	Patent foramen ovale	4	CDK8 CL E G H	1024	1779	OMIM:618748	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES; IDDHBA
HP:0001627	HP:0001636	Tetralogy of Fallot	4	CDON CL E G H	50937	17104	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		200
HP:0001627	HP:0001682	Subvalvular aortic stenosis	4	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		17
HP:0001627	HP:0001682	Subvalvular aortic stenosis	4	CEP57 CL E G H	9702	30794	OMIM:614114	Mosaic variegated aneuploidy syndrome 2			17
HP:0001627	HP:0001719	Double outlet right ventricle	4	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001719	Double outlet right ventricle	4	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001719	Double outlet right ventricle	4	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0010445	Primum atrial septal defect	4	CFAP45 CL E G H	25790	17229	OMIM:619608	HETEROTAXY, VISCERAL, 11, AUTOSOMAL, WITH MALE INFERTILITY; HTX11
HP:0001627	HP:0001719	Double outlet right ventricle	4	CFAP53 CL E G H	220136	26530	OMIM:614779	Heterotaxy, visceral, 6, autosomal			17
HP:0001627	HP:0001719	Double outlet right ventricle	4	CFC1 CL E G H	55997	18292	OMIM:605376	Heterotaxy, visceral, 2, autosomal	.		13
HP:0001627	HP:0001636	Tetralogy of Fallot	4	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.		14
HP:0001627	HP:0001636	Tetralogy of Fallot	4	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		515
HP:0001627	HP:0001636	Tetralogy of Fallot	4	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.		515
HP:0001627	HP:0001684	Secundum atrial septal defect	4	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0001627	HP:0001719	Double outlet right ventricle	4	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome	.		515
HP:0001627	HP:0030732	Dysplastic tricuspid valve	4	CHD7 CL E G H	55636	20626	OMIM:214800	Charge syndrome			515
HP:0001627	HP:0001655	Patent foramen ovale	4	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8			19
HP:0001627	HP:0001636	Tetralogy of Fallot	4	CHRM3 CL E G H	1131	1952	ORPHA:2970	Prune belly syndrome	HP:0040283 - Occasional		4
HP:0001627	HP:0001634	Mitral valve prolapse	4	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0001627	HP:0001704	Tricuspid valve prolapse	4	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1			27
HP:0001627	HP:0001634	Mitral valve prolapse	4	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		165
HP:0001627	HP:0001647	Bicuspid aortic valve	4	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		165
HP:0001627	HP:0001655	Patent foramen ovale	4	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		165
HP:0001627	HP:0001636	Tetralogy of Fallot	4	CHUK CL E G H	1147	1974	OMIM:613630	Fetal encasement syndrome			3
HP:0001627	HP:0001655	Patent foramen ovale	4	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0001719	Double outlet right ventricle	4	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0011556	Double inlet right ventricle	4	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0031348	Dextrotransposition of the great arteries	4	CIROP CL E G H	100128908	53647	OMIM:619702	HETEROTAXY, VISCERAL, 12, AUTOSOMAL; HTX12
HP:0001627	HP:0001636	Tetralogy of Fallot	4	CITED2 CL E G H	10370	1987	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		5
HP:0001627	HP:0011682	Perimembranous ventricular septal defect	4	CITED2 CL E G H	10370	1987	OMIM:614431	Ventricular septal defect 2	.		5
HP:0001627	HP:0001634	Mitral valve prolapse	4	CLIC2 CL E G H	1193	2063	ORPHA:324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	HP:0040283 - Occasional		4
HP:0001627	HP:0001634	Mitral valve prolapse	4	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001627	HP:0001636	Tetralogy of Fallot	4	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001647	Bicuspid aortic valve	4	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0005157	Concentric hypertrophic cardiomyopathy	4	CLN3 CL E G H	1201	2074	OMIM:204200	Ceroid lipofuscinosis, neuronal, 3	.		216
HP:0001627	HP:0030682	Left ventricular noncompaction	4	COA6 CL E G H	388753	18025	OMIM:616501	CARDIOENCEPHALOMYOPATHY, FATAL INFANTILE, DUE TO CYTOCHROME c OXIDASE DEFICIENCY 4; CEMCOX4			8
HP:0001627	HP:0001655	Patent foramen ovale	4	COL11A1 CL E G H	1301	2186	OMIM:228520	Fibrochondrogenesis 1	.		215
HP:0001627	HP:0001634	Mitral valve prolapse	4	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040284 - Very rare		373
HP:0001627	HP:0001704	Tricuspid valve prolapse	4	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040284 - Very rare		373
HP:0001627	HP:0001634	Mitral valve prolapse	4	COL1A1 CL E G H	1277	2197	OMIM:166200	Osteogenesis imperfecta, type I	.		373
HP:0001627	HP:0001634	Mitral valve prolapse	4	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040283 - Occasional		243
HP:0001627	HP:0001634	Mitral valve prolapse	4	COL1A2 CL E G H	1278	2198	OMIM:225320	Ehlers-Danlos syndrome, autosomal recessive, cardiac valvular form	.		243
HP:0001627	HP:0001634	Mitral valve prolapse	4	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1	HP:0040282 - Frequent		284
HP:0001627	HP:0001634	Mitral valve prolapse	4	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I	.		284
HP:0001627	HP:0001634	Mitral valve prolapse	4	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type			749
HP:0001627	HP:0001634	Mitral valve prolapse	4	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent		749
HP:0001627	HP:0001634	Mitral valve prolapse	4	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040284 - Very rare		660
HP:0001627	HP:0001704	Tricuspid valve prolapse	4	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040284 - Very rare		660
HP:0001627	HP:0001634	Mitral valve prolapse	4	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I	.		660
HP:0001627	HP:0001634	Mitral valve prolapse	4	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040284 - Very rare		325
HP:0001627	HP:0001704	Tricuspid valve prolapse	4	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040284 - Very rare		325
HP:0001627	HP:0001636	Tetralogy of Fallot	4	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		6
HP:0001627	HP:0011662	Tricuspid atresia	4	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0001627	HP:0005157	Concentric hypertrophic cardiomyopathy	4	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0005157	Concentric hypertrophic cardiomyopathy	4	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0005157	Concentric hypertrophic cardiomyopathy	4	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001636	Tetralogy of Fallot	4	COX7B CL E G H	1349	2291	OMIM:300887	Linear skin defects with multiple congenital anomalies 2	HP:0040283 - Occasional		6
HP:0001627	HP:0001634	Mitral valve prolapse	4	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0001627	HP:0001704	Tricuspid valve prolapse	4	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0001627	HP:0001634	Mitral valve prolapse	4	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001627	HP:0001655	Patent foramen ovale	4	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001627	HP:0011682	Perimembranous ventricular septal defect	4	CREBBP CL E G H	1387	2348	OMIM:180849	Rubinstein-Taybi syndrome 1			291
HP:0001627	HP:0001647	Bicuspid aortic valve	4	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040284 - Very rare		291
HP:0001627	HP:0001647	Bicuspid aortic valve	4	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040284 - Very rare		291
HP:0001627	HP:0001655	Patent foramen ovale	4	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional		291
HP:0001627	HP:0001655	Patent foramen ovale	4	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0001627	HP:0001636	Tetralogy of Fallot	4	CXCR4 CL E G H	7852	2561	ORPHA:51636	WHIM syndrome	HP:0040283 - Occasional		9
HP:0001627	HP:0001636	Tetralogy of Fallot	4	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		2
HP:0001627	HP:0001634	Mitral valve prolapse	4	DCHS1 CL E G H	8642	13681	OMIM:607829	Mitral valve prolapse, myxomatous 2	.		27
HP:0001627	HP:0001636	Tetralogy of Fallot	4	DDX11 CL E G H	1663	2736	OMIM:613398	Warsaw breakage syndrome	HP:0040283 - Occasional		13
HP:0001627	HP:0001636	Tetralogy of Fallot	4	DDX59 CL E G H	83479	25360	ORPHA:2919	Orofaciodigital syndrome type 5	HP:0040283 - Occasional		2
HP:0001627	HP:0001636	Tetralogy of Fallot	4	DDX59 CL E G H	83479	25360	OMIM:174300	Orofaciodigital syndrome V			2
HP:0001627	HP:0001655	Patent foramen ovale	4	DDX6 CL E G H	1656	2747	OMIM:618653	INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES; IDDILF
HP:0001627	HP:0005157	Concentric hypertrophic cardiomyopathy	4	DES CL E G H	1674	2770	ORPHA:98909	Desminopathy	HP:0040282 - Frequent		263
HP:0001627	HP:0001636	Tetralogy of Fallot	4	DGCR2 CL E G H	9993	2845	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0001636	Tetralogy of Fallot	4	DGCR6 CL E G H	8214	2846	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0001636	Tetralogy of Fallot	4	DGCR8 CL E G H	54487	2847	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0001636	Tetralogy of Fallot	4	DISP1 CL E G H	84976	19711	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		22
HP:0001627	HP:0001636	Tetralogy of Fallot	4	DLL1 CL E G H	28514	2908	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		3
HP:0001627	HP:0001636	Tetralogy of Fallot	4	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		9
HP:0001627	HP:0001719	Double outlet right ventricle	4	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		116
HP:0001627	HP:0001719	Double outlet right ventricle	4	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001719	Double outlet right ventricle	4	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		78
HP:0001627	HP:0001719	Double outlet right ventricle	4	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		63
HP:0001627	HP:0001719	Double outlet right ventricle	4	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		27
HP:0001627	HP:0001719	Double outlet right ventricle	4	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		62
HP:0001627	HP:0001719	Double outlet right ventricle	4	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001719	Double outlet right ventricle	4	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		21
HP:0001627	HP:0001719	Double outlet right ventricle	4	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		542
HP:0001627	HP:0001719	Double outlet right ventricle	4	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		527
HP:0001627	HP:0001719	Double outlet right ventricle	4	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		18
HP:0001627	HP:0001719	Double outlet right ventricle	4	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		73
HP:0001627	HP:0001719	Double outlet right ventricle	4	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		104
HP:0001627	HP:0001634	Mitral valve prolapse	4	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional
HP:0001627	HP:0001719	Double outlet right ventricle	4	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		2
HP:0001627	HP:0011623	Muscular ventricular septal defect	4	DNAJC19 CL E G H	131118	30528	ORPHA:66634	Dilated cardiomyopathy with ataxia	HP:0040283 - Occasional		25
HP:0001627	HP:0001634	Mitral valve prolapse	4	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001627	HP:0001636	Tetralogy of Fallot	4	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001647	Bicuspid aortic valve	4	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001719	Double outlet right ventricle	4	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		167
HP:0001627	HP:0001636	Tetralogy of Fallot	4	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		18
HP:0001627	HP:0001647	Bicuspid aortic valve	4	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001627	HP:0001684	Secundum atrial septal defect	4	DOHH CL E G H	83475	28662	OMIM:620066
HP:0001627	HP:0001636	Tetralogy of Fallot	4	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001647	Bicuspid aortic valve	4	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001627	HP:0001655	Patent foramen ovale	4	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0001627	HP:0011623	Muscular ventricular septal defect	4	DPH2 CL E G H	1802	3004	OMIM:620062
HP:0001627	HP:0011623	Muscular ventricular septal defect	4	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001627	HP:0001719	Double outlet right ventricle	4	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		44
HP:0001627	HP:0001634	Mitral valve prolapse	4	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.		13
HP:0001627	HP:0001655	Patent foramen ovale	4	DSE CL E G H	29940	21144	OMIM:615539	Ehlers-Danlos syndrome, musculocontractural type, 2	.		13
HP:0001627	HP:0011664	Left ventricular noncompaction cardiomyopathy	4	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1	.		163
HP:0001627	HP:0030682	Left ventricular noncompaction	4	DTNA CL E G H	1837	3057	OMIM:604169	Left ventricular noncompaction 1	.		163
HP:0001627	HP:0001655	Patent foramen ovale	4	DVL3 CL E G H	1857	3087	OMIM:616894	ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3; DRS3			5
HP:0001627	HP:0001634	Mitral valve prolapse	4	DZIP1 CL E G H	22873	20908	OMIM:610840	MITRAL VALVE PROLAPSE 3; MVP3
HP:0001627	HP:0001647	Bicuspid aortic valve	4	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	HP:0040283 - Occasional		3
HP:0001627	HP:0001636	Tetralogy of Fallot	4	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional		223
HP:0001627	HP:0001719	Double outlet right ventricle	4	EIF2AK3 CL E G H	9451	3255	ORPHA:1667	Wolcott-Rallison syndrome	HP:0040284 - Very rare		65
HP:0001627	HP:0001634	Mitral valve prolapse	4	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001627	HP:0001636	Tetralogy of Fallot	4	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001647	Bicuspid aortic valve	4	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001647	Bicuspid aortic valve	4	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		172
HP:0001627	HP:0001634	Mitral valve prolapse	4	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		172
HP:0001627	HP:0001636	Tetralogy of Fallot	4	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0001627	HP:0001647	Bicuspid aortic valve	4	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		172
HP:0001627	HP:0001634	Mitral valve prolapse	4	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0001627	HP:0001647	Bicuspid aortic valve	4	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome	.		172
HP:0001627	HP:0001634	Mitral valve prolapse	4	ENPP1 CL E G H	5167	3356	ORPHA:758	Pseudoxanthoma elasticum	HP:0040283 - Occasional		151
HP:0001627	HP:0001636	Tetralogy of Fallot	4	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		4
HP:0001627	HP:0001634	Mitral valve prolapse	4	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001627	HP:0001655	Patent foramen ovale	4	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001627	HP:0011682	Perimembranous ventricular septal defect	4	EP300 CL E G H	2033	3373	OMIM:180849	Rubinstein-Taybi syndrome 1			250
HP:0001627	HP:0001647	Bicuspid aortic valve	4	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040284 - Very rare		250
HP:0001627	HP:0001655	Patent foramen ovale	4	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional		250
HP:0001627	HP:0001636	Tetralogy of Fallot	4	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		158
HP:0001627	HP:0010445	Primum atrial septal defect	4	ERCC4 CL E G H	2072	3436	OMIM:615272	Fanconi anemia, complementation group Q			158
HP:0001627	HP:0001636	Tetralogy of Fallot	4	ESS2 CL E G H	8220	16817	OMIM:192430	Velocardiofacial syndrome
HP:0001627	HP:0001634	Mitral valve prolapse	4	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0001627	HP:0001636	Tetralogy of Fallot	4	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		340
HP:0001627	HP:0001636	Tetralogy of Fallot	4	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		58
HP:0001627	HP:0001636	Tetralogy of Fallot	4	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		410
HP:0001627	HP:0001636	Tetralogy of Fallot	4	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		147
HP:0001627	HP:0001636	Tetralogy of Fallot	4	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0001627	HP:0001636	Tetralogy of Fallot	4	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		87
HP:0001627	HP:0001636	Tetralogy of Fallot	4	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0001627	HP:0001636	Tetralogy of Fallot	4	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		157
HP:0001627	HP:0001655	Patent foramen ovale	4	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.		157
HP:0001627	HP:0001636	Tetralogy of Fallot	4	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		53
HP:0001627	HP:0001636	Tetralogy of Fallot	4	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		107
HP:0001627	HP:0001647	Bicuspid aortic valve	4	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		1361
HP:0001627	HP:0001634	Mitral valve prolapse	4	FBN1 CL E G H	2200	3603	OMIM:614185	GELEOPHYSIC DYSPLASIA 2; GPHYSD2			1361
HP:0001627	HP:0001634	Mitral valve prolapse	4	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0001627	HP:0001634	Mitral valve prolapse	4	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0001627	HP:0001647	Bicuspid aortic valve	4	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0001627	HP:0001704	Tricuspid valve prolapse	4	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0001627	HP:0004382	Mitral valve calcification	4	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome			1361
HP:0001627	HP:0005136	Mitral annular calcification	4	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	.		1361
HP:0001627	HP:0001634	Mitral valve prolapse	4	FBN1 CL E G H	2200	3603	OMIM:604308	MASS SYNDROME			1361
HP:0001627	HP:0001634	Mitral valve prolapse	4	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent		1361
HP:0001627	HP:0001704	Tricuspid valve prolapse	4	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent		1361
HP:0001627	HP:0001634	Mitral valve prolapse	4	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent		1361
HP:0001627	HP:0001647	Bicuspid aortic valve	4	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS			1361
HP:0001627	HP:0001634	Mitral valve prolapse	4	FBN2 CL E G H	2201	3604	ORPHA:115	Congenital contractural arachnodactyly	HP:0040283 - Occasional		655
HP:0001627	HP:0001634	Mitral valve prolapse	4	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.		655
HP:0001627	HP:0001647	Bicuspid aortic valve	4	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.		655
HP:0001627	HP:0001655	Patent foramen ovale	4	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0001627	HP:0001647	Bicuspid aortic valve	4	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0001627	HP:0001636	Tetralogy of Fallot	4	FGF8 CL E G H	2253	3686	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		17
HP:0001627	HP:0001682	Subvalvular aortic stenosis	4	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.		172
HP:0001627	HP:0001704	Tricuspid valve prolapse	4	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent		172
HP:0001627	HP:0001636	Tetralogy of Fallot	4	FGFR1 CL E G H	2260	3688	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		172
HP:0001627	HP:0001670	Asymmetric septal hypertrophy	4	FHOD3 CL E G H	80206	26178	OMIM:619402	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0001627	HP:0005157	Concentric hypertrophic cardiomyopathy	4	FHOD3 CL E G H	80206	26178	OMIM:619402	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0001627	HP:0031992	Apical hypertrophic cardiomyopathy	4	FHOD3 CL E G H	80206	26178	OMIM:619402	CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 28; CMH28
HP:0001627	HP:0001634	Mitral valve prolapse	4	FIBP CL E G H	9158	3705	ORPHA:500095	Tall stature-intellectual disability-renal anomalies syndrome	HP:0040282 - Frequent		2
HP:0001627	HP:0001634	Mitral valve prolapse	4	FIBP CL E G H	9158	3705	OMIM:617107	Thauvin-Robinet-Faivre syndrome	.		2
HP:0001627	HP:0001636	Tetralogy of Fallot	4	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome	.		111
HP:0001627	HP:0001636	Tetralogy of Fallot	4	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040284 - Very rare		111
HP:0001627	HP:0001655	Patent foramen ovale	4	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome			111
HP:0001627	HP:0001634	Mitral valve prolapse	4	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001627	HP:0001636	Tetralogy of Fallot	4	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001647	Bicuspid aortic valve	4	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001655	Patent foramen ovale	4	FLCN CL E G H	201163	27310	OMIM:610883	Potocki-Lupski syndrome	.		332
HP:0001627	HP:0001634	Mitral valve prolapse	4	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked	.		493
HP:0001627	HP:0001647	Bicuspid aortic valve	4	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked	HP:0040284 - Very rare		493
HP:0001627	HP:0025523	Abnormal morphology of the chordae tendinae of the mitral valve	4	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked			493
HP:0001627	HP:0031442	Abnormal tricuspid chordae tendinae morphology	4	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked			493
HP:0001627	HP:0001634	Mitral valve prolapse	4	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia			493
HP:0001627	HP:0001647	Bicuspid aortic valve	4	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia			493
HP:0001627	HP:0001634	Mitral valve prolapse	4	FLNA CL E G H	2316	3754	OMIM:305620	Frontometaphyseal dysplasia	.		493
HP:0001627	HP:0001647	Bicuspid aortic valve	4	FLNA CL E G H	2316	3754	OMIM:300049	Heterotopia, periventricular, X-linked dominant	.		493
HP:0001627	HP:0001634	Mitral valve prolapse	4	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.		493
HP:0001627	HP:0001704	Tricuspid valve prolapse	4	FLNA CL E G H	2316	3754	OMIM:309350	Melnick-Needles syndrome	.		493
HP:0001627	HP:0001655	Patent foramen ovale	4	FLNA CL E G H	2316	3754	ORPHA:88630	Terminal osseous dysplasia-pigmentary defects syndrome			493
HP:0001627	HP:0001636	Tetralogy of Fallot	4	FLT4 CL E G H	2324	3767	OMIM:618780	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 7; CHTD7			90
HP:0001627	HP:0001636	Tetralogy of Fallot	4	FLT4 CL E G H	2324	3767	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		90
HP:0001627	HP:0001634	Mitral valve prolapse	4	FMN2 CL E G H	56776	14074	OMIM:616193	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47; MRT47			44
HP:0001627	HP:0001634	Mitral valve prolapse	4	FMR1 CL E G H	2332	3775	OMIM:300624	Fragile X mental retardation syndrome	.		30
HP:0001627	HP:0001634	Mitral valve prolapse	4	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome	HP:0040283 - Occasional		30
HP:0001627	HP:0001634	Mitral valve prolapse	4	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040284 - Very rare		30
HP:0001627	HP:0001655	Patent foramen ovale	4	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0001627	HP:0001682	Subvalvular aortic stenosis	4	FOCAD CL E G H	54914	23377	OMIM:619991				3
HP:0001627	HP:0001636	Tetralogy of Fallot	4	FOXC2 CL E G H	2303	3801	OMIM:153400	Lymphedema-Distichiasis syndrome	.		20
HP:0001627	HP:0001647	Bicuspid aortic valve	4	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		23
HP:0001627	HP:0001636	Tetralogy of Fallot	4	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0001647	Bicuspid aortic valve	4	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0001655	Patent foramen ovale	4	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0025523	Abnormal morphology of the chordae tendinae of the mitral valve	4	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0030732	Dysplastic tricuspid valve	4	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0001636	Tetralogy of Fallot	4	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional		61
HP:0001627	HP:0001647	Bicuspid aortic valve	4	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional		61
HP:0001627	HP:0001636	Tetralogy of Fallot	4	FOXH1 CL E G H	8928	3814	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		48
HP:0001627	HP:0001719	Double outlet right ventricle	4	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0010316	Ebstein anomaly of the tricuspid valve	4	FREM1 CL E G H	158326	23399	OMIM:608980	Bifid nose with or without anorectal and renal anomalies			198
HP:0001627	HP:0001684	Secundum atrial septal defect	4	G6PC3 CL E G H	92579	24861	OMIM:612541	Neutropenia, severe congenital, 4, autosomal recessive			37
HP:0001627	HP:0001636	Tetralogy of Fallot	4	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		10
HP:0001627	HP:0001634	Mitral valve prolapse	4	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional		6
HP:0001627	HP:0001636	Tetralogy of Fallot	4	GAS1 CL E G H	2619	4165	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		2
HP:0001627	HP:0001719	Double outlet right ventricle	4	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		1
HP:0001627	HP:0001719	Double outlet right ventricle	4	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		9
HP:0001627	HP:0001636	Tetralogy of Fallot	4	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001627	HP:0001655	Patent foramen ovale	4	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001627	HP:0001719	Double outlet right ventricle	4	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001627	HP:0010316	Ebstein anomaly of the tricuspid valve	4	GATA1 CL E G H	2623	4170	OMIM:190685	Down syndrometrisomy 21, included			29
HP:0001627	HP:0001636	Tetralogy of Fallot	4	GATA4 CL E G H	2626	4173	ORPHA:251071	8p23.1 microdeletion syndrome	HP:0040283 - Occasional		87
HP:0001627	HP:0010445	Primum atrial septal defect	4	GATA4 CL E G H	2626	4173	OMIM:614430	Atrioventricular septal defect 4	.		87
HP:0001627	HP:0001636	Tetralogy of Fallot	4	GATA4 CL E G H	2626	4173	OMIM:615542	Testicular anomalies with or without congenital heart disease	HP:0040283 - Occasional		87
HP:0001627	HP:0001636	Tetralogy of Fallot	4	GATA4 CL E G H	2626	4173	OMIM:187500	Tetralogy of Fallot	.		87
HP:0001627	HP:0001636	Tetralogy of Fallot	4	GATA4 CL E G H	2626	4173	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		87
HP:0001627	HP:0001636	Tetralogy of Fallot	4	GATA4 CL E G H	2626	4173	OMIM:614429	Ventricular septal defect 1			87
HP:0001627	HP:0001636	Tetralogy of Fallot	4	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5	.		10
HP:0001627	HP:0001647	Bicuspid aortic valve	4	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5	.		10
HP:0001627	HP:0001719	Double outlet right ventricle	4	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5	.		10
HP:0001627	HP:0001647	Bicuspid aortic valve	4	GATA5 CL E G H	140628	15802	ORPHA:402075	Familial bicuspid aortic valve	HP:0040280 - Obligate		10
HP:0001627	HP:0001636	Tetralogy of Fallot	4	GATA5 CL E G H	140628	15802	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		10
HP:0001627	HP:0001647	Bicuspid aortic valve	4	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9			37
HP:0001627	HP:0001684	Secundum atrial septal defect	4	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9	.		37
HP:0001627	HP:0011623	Muscular ventricular septal defect	4	GATA6 CL E G H	2627	4174	OMIM:614474	Atrioventricular septal defect 5	.		37
HP:0001627	HP:0001719	Double outlet right ventricle	4	GATA6 CL E G H	2627	4174	OMIM:217095	Conotruncal heart malformations	.		37
HP:0001627	HP:0001636	Tetralogy of Fallot	4	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001627	HP:0001655	Patent foramen ovale	4	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001627	HP:0011573	Hypoplastic tricuspid valve	4	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects	.		37
HP:0001627	HP:0011682	Perimembranous ventricular septal defect	4	GATA6 CL E G H	2627	4174	OMIM:600001	Pancreatic agenesis and congenital heart defects			37
HP:0001627	HP:0001636	Tetralogy of Fallot	4	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040283 - Occasional		37
HP:0001627	HP:0001655	Patent foramen ovale	4	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040281 - Very frequent		37
HP:0001627	HP:0011573	Hypoplastic tricuspid valve	4	GATA6 CL E G H	2627	4174	ORPHA:2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	HP:0040283 - Occasional		37
HP:0001627	HP:0001636	Tetralogy of Fallot	4	GATA6 CL E G H	2627	4174	OMIM:187500	Tetralogy of Fallot	.		37
HP:0001627	HP:0001636	Tetralogy of Fallot	4	GATA6 CL E G H	2627	4174	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		37
HP:0001627	HP:0004382	Mitral valve calcification	4	GBA1 CL E G H	2629	4177	ORPHA:77261	Gaucher disease type 3	HP:0040283 - Occasional
HP:0001627	HP:0004382	Mitral valve calcification	4	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC
HP:0001627	HP:0004382	Mitral valve calcification	4	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040282 - Frequent
HP:0001627	HP:0001636	Tetralogy of Fallot	4	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6	.		28
HP:0001627	HP:0001684	Secundum atrial septal defect	4	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6	.		28
HP:0001627	HP:0001719	Double outlet right ventricle	4	GDF1 CL E G H	2657	4214	OMIM:613854	Congenital heart defects, multiple types, 6	.		28
HP:0001627	HP:0001636	Tetralogy of Fallot	4	GDF1 CL E G H	2657	4214	OMIM:208530	Right atrial isomerism (Ivemark)			28
HP:0001627	HP:0001636	Tetralogy of Fallot	4	GDF1 CL E G H	2657	4214	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		28
HP:0001627	HP:0010445	Primum atrial septal defect	4	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3	.		68
HP:0001627	HP:0011622	Inlet ventricular septal defect	4	GJA1 CL E G H	2697	4274	OMIM:600309	Atrioventricular septal defect 3	.		68
HP:0001627	HP:0011560	Mitral atresia	4	GJA1 CL E G H	2697	4274	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional		68
HP:0001627	HP:0001647	Bicuspid aortic valve	4	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.		39
HP:0001627	HP:0011623	Muscular ventricular septal defect	4	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0001627	HP:0011682	Perimembranous ventricular septal defect	4	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			39
HP:0001627	HP:0001636	Tetralogy of Fallot	4	GJA5 CL E G H	2702	4279	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		39
HP:0001627	HP:0001647	Bicuspid aortic valve	4	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.		34
HP:0001627	HP:0011623	Muscular ventricular septal defect	4	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0001627	HP:0011682	Perimembranous ventricular septal defect	4	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb			34
HP:0001627	HP:0001636	Tetralogy of Fallot	4	GLI2 CL E G H	2736	4318	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		173
HP:0001627	HP:0001682	Subvalvular aortic stenosis	4	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001627	HP:0001719	Double outlet right ventricle	4	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001627	HP:0011560	Mitral atresia	4	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001627	HP:0011623	Muscular ventricular septal defect	4	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0001627	HP:0001655	Patent foramen ovale	4	GNB5 CL E G H	10681	4401	ORPHA:542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome	HP:0040283 - Occasional		7
HP:0001627	HP:0001655	Patent foramen ovale	4	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:0001627	HP:0001655	Patent foramen ovale	4	GNPTAB CL E G H	79158	29670	ORPHA:576	Mucolipidosis type II	HP:0040283 - Occasional		240
HP:0001627	HP:0001670	Asymmetric septal hypertrophy	4	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.		69
HP:0001627	HP:0001636	Tetralogy of Fallot	4	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		8
HP:0001627	HP:0011662	Tricuspid atresia	4	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0001627	HP:0001634	Mitral valve prolapse	4	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0001627	HP:0001636	Tetralogy of Fallot	4	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001647	Bicuspid aortic valve	4	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001634	Mitral valve prolapse	4	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0001627	HP:0001636	Tetralogy of Fallot	4	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001647	Bicuspid aortic valve	4	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001634	Mitral valve prolapse	4	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0001627	HP:0001636	Tetralogy of Fallot	4	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001647	Bicuspid aortic valve	4	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001647	Bicuspid aortic valve	4	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0001627	HP:0001684	Secundum atrial septal defect	4	H4C3 CL E G H	8364	4787	OMIM:619758	TESSADORI-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1; TEVANED1
HP:0001627	HP:0001684	Secundum atrial septal defect	4	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0001627	HP:0001655	Patent foramen ovale	4	HACD1 CL E G H	9200	9639	OMIM:619967				2
HP:0001627	HP:0001634	Mitral valve prolapse	4	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0001627	HP:0001704	Tricuspid valve prolapse	4	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0001627	HP:0001634	Mitral valve prolapse	4	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2	HP:0040283 - Occasional		185
HP:0001627	HP:0030682	Left ventricular noncompaction	4	HCN4 CL E G H	10021	16882	OMIM:163800	Sick sinus syndrome 2	HP:0040283 - Occasional		185
HP:0001627	HP:0001682	Subvalvular aortic stenosis	4	HDAC4 CL E G H	9759	14063	OMIM:600430	Chromosome 2q37 deletion syndrome	HP:0040283 - Occasional		33
HP:0001627	HP:0001684	Secundum atrial septal defect	4	HEATR3 CL E G H	55027	26087	OMIM:620072
HP:0001627	HP:0001634	Mitral valve prolapse	4	HEXB CL E G H	3074	4879	ORPHA:309155	Sandhoff disease, infantile form			80
HP:0001627	HP:0001647	Bicuspid aortic valve	4	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0001627	HP:0004382	Mitral valve calcification	4	HGD CL E G H	3081	4892	ORPHA:56	Alkaptonuria	HP:0040282 - Frequent		77
HP:0001627	HP:0004382	Mitral valve calcification	4	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria	.		77
HP:0001627	HP:0001670	Asymmetric septal hypertrophy	4	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.		86
HP:0001627	HP:0001636	Tetralogy of Fallot	4	HIBCH CL E G H	26275	4908	OMIM:250620	3-Hydroxyisobutyryl-Coa hydrolase deficiency	.		32
HP:0001627	HP:0001636	Tetralogy of Fallot	4	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040284 - Very rare		32
HP:0001627	HP:0001636	Tetralogy of Fallot	4	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		3
HP:0001627	HP:0011662	Tricuspid atresia	4	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0001627	HP:0001719	Double outlet right ventricle	4	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis			4
HP:0001627	HP:0001719	Double outlet right ventricle	4	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis			2
HP:0001627	HP:0001634	Mitral valve prolapse	4	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB			3
HP:0001627	HP:0001647	Bicuspid aortic valve	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:0040283 - Occasional		8
HP:0001627	HP:0001647	Bicuspid aortic valve	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:0040283 - Occasional		8
HP:0001627	HP:0001634	Mitral valve prolapse	4	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0001627	HP:0001634	Mitral valve prolapse	4	HRAS CL E G H	3265	5173	ORPHA:3071	Costello syndrome	HP:0040282 - Frequent		113
HP:0001627	HP:0001655	Patent foramen ovale	4	HSPA9 CL E G H	3313	5244	OMIM:616854	Even-Plus syndrome	.		6
HP:0001627	HP:0001636	Tetralogy of Fallot	4	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		345
HP:0001627	HP:0001719	Double outlet right ventricle	4	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		21
HP:0001627	HP:0001684	Secundum atrial septal defect	4	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0001627	HP:0011681	Subarterial ventricular septal defect	4	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria			15
HP:0001627	HP:0001682	Subvalvular aortic stenosis	4	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.		28
HP:0001627	HP:0004382	Mitral valve calcification	4	IFIH1 CL E G H	64135	18873	OMIM:182250	Singleton-Merten syndrome 1	.		28
HP:0001627	HP:0001647	Bicuspid aortic valve	4	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.		93
HP:0001627	HP:0001634	Mitral valve prolapse	4	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional		148
HP:0001627	HP:0001655	Patent foramen ovale	4	IGF1R CL E G H	3480	5465	OMIM:270450	Insulin-Like growth factor I, resistance to	.		268
HP:0001627	HP:0001636	Tetralogy of Fallot	4	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0001627	HP:0001636	Tetralogy of Fallot	4	INTU CL E G H	27152	29239	OMIM:617925	Short-Rib thoracic dysplasia 20 with polydactyly
HP:0001627	HP:0001634	Mitral valve prolapse	4	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001627	HP:0001655	Patent foramen ovale	4	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001627	HP:0001719	Double outlet right ventricle	4	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0001627	HP:0001636	Tetralogy of Fallot	4	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.		257
HP:0001627	HP:0001636	Tetralogy of Fallot	4	JAG1 CL E G H	182	6188	OMIM:617992	DEAFNESS, CONGENITAL HEART DEFECTS, AND POSTERIOR EMBRYOTOXON; DCHE			257
HP:0001627	HP:0001636	Tetralogy of Fallot	4	JAG1 CL E G H	182	6188	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		257
HP:0001627	HP:0001636	Tetralogy of Fallot	4	JAG1 CL E G H	182	6188	OMIM:187500	Tetralogy of Fallot	.		257
HP:0001627	HP:0001636	Tetralogy of Fallot	4	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		2
HP:0001627	HP:0011662	Tricuspid atresia	4	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0001627	HP:0010316	Ebstein anomaly of the tricuspid valve	4	JPH2 CL E G H	57158	14202	OMIM:619492	CARDIOMYOPATHY, DILATED, 2E; CMD2E			111
HP:0001627	HP:0001647	Bicuspid aortic valve	4	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional		283
HP:0001627	HP:0001647	Bicuspid aortic valve	4	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome			283
HP:0001627	HP:0001647	Bicuspid aortic valve	4	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional		283
HP:0001627	HP:0001684	Secundum atrial septal defect	4	KAT6A CL E G H	7994	13013	OMIM:616268	Arboleda-Tham syndrome			34
HP:0001627	HP:0001655	Patent foramen ovale	4	KATNB1 CL E G H	10300	6217	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional		10
HP:0001627	HP:0001636	Tetralogy of Fallot	4	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001655	Patent foramen ovale	4	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional		3
HP:0001627	HP:0001684	Secundum atrial septal defect	4	KDM5B CL E G H	10765	18039	OMIM:618109	Mental retardation, autosomal recessive 65			2
HP:0001627	HP:0001636	Tetralogy of Fallot	4	KDR CL E G H	3791	6307	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		40
HP:0001627	HP:0001647	Bicuspid aortic valve	4	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0001627	HP:0001634	Mitral valve prolapse	4	KRAS CL E G H	3845	6407	OMIM:615278	Cardiofaciocutaneous syndrome 2			196
HP:0001627	HP:0001704	Tricuspid valve prolapse	4	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent		196
HP:0001627	HP:0001634	Mitral valve prolapse	4	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0001627	HP:0001655	Patent foramen ovale	4	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0001627	HP:0001704	Tricuspid valve prolapse	4	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3			196
HP:0001627	HP:0030682	Left ventricular noncompaction	4	LDB3 CL E G H	11155	15710	OMIM:601493	Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction	HP:0040283 - Occasional		286
HP:0001627	HP:0001634	Mitral valve prolapse	4	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001627	HP:0001636	Tetralogy of Fallot	4	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001647	Bicuspid aortic valve	4	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001634	Mitral valve prolapse	4	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040283 - Occasional		645
HP:0001627	HP:0004382	Mitral valve calcification	4	LMNA CL E G H	4000	6636	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		645
HP:0001627	HP:0004382	Mitral valve calcification	4	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent		645
HP:0001627	HP:0001655	Patent foramen ovale	4	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0001627	HP:0001647	Bicuspid aortic valve	4	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10	HP:0040283 - Occasional		6
HP:0001627	HP:0001647	Bicuspid aortic valve	4	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		6
HP:0001627	HP:0001719	Double outlet right ventricle	4	LRRC56 CL E G H	115399	25430	OMIM:618254	CILIARY DYSKINESIA, PRIMARY, 39; CILD39
HP:0001627	HP:0001719	Double outlet right ventricle	4	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001634	Mitral valve prolapse	4	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature	.		12
HP:0001627	HP:0001655	Patent foramen ovale	4	LTBP4 CL E G H	8425	6717	OMIM:613177	Cutis laxa, autosomal recessive, type IC	.		92
HP:0001627	HP:0001636	Tetralogy of Fallot	4	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001634	Mitral valve prolapse	4	LZTR1 CL E G H	8216	6742	OMIM:616564	Noonan syndrome 10			43
HP:0001627	HP:0001636	Tetralogy of Fallot	4	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1
HP:0001627	HP:0001634	Mitral valve prolapse	4	MAP3K7 CL E G H	6885	6859	ORPHA:3238	Cardiospondylocarpofacial syndrome	HP:0040281 - Very frequent		11
HP:0001627	HP:0001655	Patent foramen ovale	4	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0001627	HP:0011623	Muscular ventricular septal defect	4	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0001627	HP:0030732	Dysplastic tricuspid valve	4	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome			11
HP:0001627	HP:0001647	Bicuspid aortic valve	4	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.		11
HP:0001627	HP:0001655	Patent foramen ovale	4	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.		11
HP:0001627	HP:0001634	Mitral valve prolapse	4	MAPK1 CL E G H	5594	6871	OMIM:619087	NOONAN SYNDROME 13; NS13			2
HP:0001627	HP:0001636	Tetralogy of Fallot	4	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0001627	HP:0011555	Double inlet left ventricle	4	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0001627	HP:0001647	Bicuspid aortic valve	4	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		13
HP:0001627	HP:0001719	Double outlet right ventricle	4	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		13
HP:0001627	HP:0001647	Bicuspid aortic valve	4	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent		3
HP:0001627	HP:0001719	Double outlet right ventricle	4	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q			3
HP:0001627	HP:0011560	Mitral atresia	4	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040283 - Occasional		3
HP:0001627	HP:0001634	Mitral valve prolapse	4	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040283 - Occasional		228
HP:0001627	HP:0001655	Patent foramen ovale	4	MED12 CL E G H	9968	11957	OMIM:301068	HARDIKAR SYNDROME; HDKR			228
HP:0001627	HP:0001655	Patent foramen ovale	4	MED13L CL E G H	23389	22962	ORPHA:369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	HP:0040283 - Occasional		74
HP:0001627	HP:0001655	Patent foramen ovale	4	MED13L CL E G H	23389	22962	OMIM:616789	Mental retardation and distinctive facial features with or without cardiac defects	.		74
HP:0001627	HP:0001684	Secundum atrial septal defect	4	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0001627	HP:0011682	Perimembranous ventricular septal defect	4	MEIS2 CL E G H	4212	7001	OMIM:600987	Cleft palate, cardiac defects, and mental retardation			7
HP:0001627	HP:0001634	Mitral valve prolapse	4	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0001627	HP:0001636	Tetralogy of Fallot	4	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001647	Bicuspid aortic valve	4	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001684	Secundum atrial septal defect	4	METTL5 CL E G H	29081	25006	OMIM:618665	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 72; MRT72
HP:0001627	HP:0001634	Mitral valve prolapse	4	MFAP5 CL E G H	8076	29673	OMIM:616166	AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9			11
HP:0001627	HP:0001647	Bicuspid aortic valve	4	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		11
HP:0001627	HP:0011664	Left ventricular noncompaction cardiomyopathy	4	MIB1 CL E G H	57534	21086	OMIM:615092	Left ventricular noncompaction 7	.		28
HP:0001627	HP:0030682	Left ventricular noncompaction	4	MIB1 CL E G H	57534	21086	OMIM:615092	Left ventricular noncompaction 7	.		28
HP:0001627	HP:0001655	Patent foramen ovale	4	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional		57
HP:0001627	HP:0030682	Left ventricular noncompaction	4	MIPEP CL E G H	4285	7104	OMIM:617228	Combined oxidative phosphorylation deficiency 31	.		7
HP:0001627	HP:0001636	Tetralogy of Fallot	4	MKKS CL E G H	8195	7108	ORPHA:2473	McKusick-Kaufman syndrome	HP:0040283 - Occasional		69
HP:0001627	HP:0001634	Mitral valve prolapse	4	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		1
HP:0001627	HP:0001636	Tetralogy of Fallot	4	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001647	Bicuspid aortic valve	4	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001634	Mitral valve prolapse	4	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0001627	HP:0001647	Bicuspid aortic valve	4	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome	.		1
HP:0001627	HP:0011664	Left ventricular noncompaction cardiomyopathy	4	MLYCD CL E G H	23417	7150	OMIM:248360	Malonyl-CoA decarboxylase deficiency			80
HP:0001627	HP:0001634	Mitral valve prolapse	4	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional		2
HP:0001627	HP:0001647	Bicuspid aortic valve	4	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional		2
HP:0001627	HP:0001719	Double outlet right ventricle	4	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional		2
HP:0001627	HP:0001634	Mitral valve prolapse	4	MMP2 CL E G H	4313	7166	OMIM:259600	Multicentric osteolysis, nodulosis, and arthropathy			64
HP:0001627	HP:0001634	Mitral valve prolapse	4	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional		64
HP:0001627	HP:0001647	Bicuspid aortic valve	4	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional		64
HP:0001627	HP:0001719	Double outlet right ventricle	4	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional		64
HP:0001627	HP:0011560	Mitral atresia	4	MMP21 CL E G H	118856	14357	OMIM:616749	Heterotaxy, visceral, 7, autosomal			3
HP:0001627	HP:0001636	Tetralogy of Fallot	4	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001655	Patent foramen ovale	4	MRPL3 CL E G H	11222	10379	OMIM:614582	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 9; COXPD9			13
HP:0001627	HP:0001655	Patent foramen ovale	4	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001627	HP:0004382	Mitral valve calcification	4	MTX2 CL E G H	10651	7506	OMIM:619127	MANDIBULOACRAL DYSPLASIA PROGEROID SYNDROME; MDPS
HP:0001627	HP:0011623	Muscular ventricular septal defect	4	MYBPC3 CL E G H	4607	7551	OMIM:115197	Cardiomyopathy, familial hypertrophic, 4			1143
HP:0001627	HP:0030682	Left ventricular noncompaction	4	MYBPC3 CL E G H	4607	7551	OMIM:615396	Left ventricular noncompaction 10	.		1143
HP:0001627	HP:0011662	Tricuspid atresia	4	MYCN CL E G H	4613	7559	OMIM:164280	Feingold syndrome 1			35
HP:0001627	HP:0011623	Muscular ventricular septal defect	4	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1			35
HP:0001627	HP:0011662	Tricuspid atresia	4	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040283 - Occasional		35
HP:0001627	HP:0001647	Bicuspid aortic valve	4	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4	.		418
HP:0001627	HP:0001647	Bicuspid aortic valve	4	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		418
HP:0001627	HP:0001684	Secundum atrial septal defect	4	MYH6 CL E G H	4624	7576	OMIM:614089	ATRIAL SEPTAL DEFECT 3; ASD3			452
HP:0001627	HP:0001670	Asymmetric septal hypertrophy	4	MYH6 CL E G H	4624	7576	OMIM:192600	Cardiomyopathy, familial hypertrophic 1	.		452
HP:0001627	HP:0001682	Subvalvular aortic stenosis	4	MYH6 CL E G H	4624	7576	OMIM:192600	Cardiomyopathy, familial hypertrophic 1	.		452
HP:0001627	HP:0001647	Bicuspid aortic valve	4	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S	HP:0040283 - Occasional		1269
HP:0001627	HP:0010316	Ebstein anomaly of the tricuspid valve	4	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0001627	HP:0011682	Perimembranous ventricular septal defect	4	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S			1269
HP:0001627	HP:0030682	Left ventricular noncompaction	4	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S	HP:0040283 - Occasional		1269
HP:0001627	HP:0001670	Asymmetric septal hypertrophy	4	MYH7 CL E G H	4625	7577	OMIM:192600	Cardiomyopathy, familial hypertrophic 1	.		1269
HP:0001627	HP:0001682	Subvalvular aortic stenosis	4	MYH7 CL E G H	4625	7577	OMIM:192600	Cardiomyopathy, familial hypertrophic 1	.		1269
HP:0001627	HP:0001634	Mitral valve prolapse	4	MYH7 CL E G H	4625	7577	ORPHA:324604	Classic multiminicore myopathy	HP:0040283 - Occasional		1269
HP:0001627	HP:0010316	Ebstein anomaly of the tricuspid valve	4	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve	HP:0040281 - Very frequent		1269
HP:0001627	HP:0011575	Imperforate tricuspid valve	4	MYH7 CL E G H	4625	7577	ORPHA:1880	Ebstein malformation of the tricuspid valve	HP:0040281 - Very frequent		1269
HP:0001627	HP:0001670	Asymmetric septal hypertrophy	4	MYL2 CL E G H	4633	7583	OMIM:608758	Cardiomyopathy, familial hypertrophic, 10	.		131
HP:0001627	HP:0011664	Left ventricular noncompaction cardiomyopathy	4	MYL2 CL E G H	4633	7583	OMIM:619424	MYOPATHY, MYOFIBRILLAR, 12, INFANTILE-ONSET, WITH CARDIOMYOPATHY; MFM12			131
HP:0001627	HP:0001647	Bicuspid aortic valve	4	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		326
HP:0001627	HP:0001670	Asymmetric septal hypertrophy	4	MYLK2 CL E G H	85366	16243	OMIM:192600	Cardiomyopathy, familial hypertrophic 1	.		124
HP:0001627	HP:0001682	Subvalvular aortic stenosis	4	MYLK2 CL E G H	85366	16243	OMIM:192600	Cardiomyopathy, familial hypertrophic 1	.		124
HP:0001627	HP:0001647	Bicuspid aortic valve	4	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL			3
HP:0001627	HP:0011664	Left ventricular noncompaction cardiomyopathy	4	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL			3
HP:0001627	HP:0001670	Asymmetric septal hypertrophy	4	MYOZ2 CL E G H	51778	1330	OMIM:613838	Cardiomyopathy, familial hypertrophic, 16	HP:0040283 - Occasional		81
HP:0001627	HP:0001634	Mitral valve prolapse	4	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional		217
HP:0001627	HP:0001636	Tetralogy of Fallot	4	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	.		2
HP:0001627	HP:0030732	Dysplastic tricuspid valve	4	MYRF CL E G H	745	1181	OMIM:618280	Cardiac-Urogenital syndrome	.		2
HP:0001627	HP:0001647	Bicuspid aortic valve	4	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.		23
HP:0001627	HP:0001647	Bicuspid aortic valve	4	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001627	HP:0001655	Patent foramen ovale	4	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001627	HP:0001684	Secundum atrial septal defect	4	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001627	HP:0011682	Perimembranous ventricular septal defect	4	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome			23
HP:0001627	HP:0001647	Bicuspid aortic valve	4	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0001627	HP:0001719	Double outlet right ventricle	4	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0001627	HP:0001670	Asymmetric septal hypertrophy	4	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.		72
HP:0001627	HP:0001655	Patent foramen ovale	4	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.		2
HP:0001627	HP:0001634	Mitral valve prolapse	4	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040282 - Frequent		13
HP:0001627	HP:0001636	Tetralogy of Fallot	4	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0001627	HP:0001647	Bicuspid aortic valve	4	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional		13
HP:0001627	HP:0005157	Concentric hypertrophic cardiomyopathy	4	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0005157	Concentric hypertrophic cardiomyopathy	4	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0005157	Concentric hypertrophic cardiomyopathy	4	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0005157	Concentric hypertrophic cardiomyopathy	4	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001655	Patent foramen ovale	4	NDE1 CL E G H	54820	17619	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional		96
HP:0001627	HP:0001634	Mitral valve prolapse	4	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0001627	HP:0001704	Tricuspid valve prolapse	4	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0001627	HP:0011682	Perimembranous ventricular septal defect	4	NDUFB7 CL E G H	4713	7702	OMIM:620135
HP:0001627	HP:0011682	Perimembranous ventricular septal defect	4	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0001627	HP:0005157	Concentric hypertrophic cardiomyopathy	4	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0001627	HP:0001719	Double outlet right ventricle	4	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001634	Mitral valve prolapse	4	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:0001627	HP:0001655	Patent foramen ovale	4	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:0001627	HP:0001684	Secundum atrial septal defect	4	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome	.		1952
HP:0001627	HP:0001647	Bicuspid aortic valve	4	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia			20
HP:0001627	HP:0001636	Tetralogy of Fallot	4	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare		117
HP:0001627	HP:0001636	Tetralogy of Fallot	4	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare		1
HP:0001627	HP:0001655	Patent foramen ovale	4	NKX2-1 CL E G H	7080	11825	ORPHA:209905	Brain-lung-thyroid syndrome	HP:0040284 - Very rare		51
HP:0001627	HP:0001636	Tetralogy of Fallot	4	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects	HP:0040283 - Occasional		90
HP:0001627	HP:0001682	Subvalvular aortic stenosis	4	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects	HP:0040283 - Occasional		90
HP:0001627	HP:0001684	Secundum atrial septal defect	4	NKX2-5 CL E G H	1482	2488	OMIM:108900	Atrial septal defect with atrioventricular conduction defects	.		90
HP:0001627	HP:0001719	Double outlet right ventricle	4	NKX2-5 CL E G H	1482	2488	OMIM:217095	Conotruncal heart malformations	.		90
HP:0001627	HP:0001647	Bicuspid aortic valve	4	NKX2-5 CL E G H	1482	2488	ORPHA:402075	Familial bicuspid aortic valve	HP:0040280 - Obligate		90
HP:0001627	HP:0011560	Mitral atresia	4	NKX2-5 CL E G H	1482	2488	ORPHA:2248	Hypoplastic left heart syndrome	HP:0040283 - Occasional		90
HP:0001627	HP:0011560	Mitral atresia	4	NKX2-5 CL E G H	1482	2488	OMIM:614435	Hypoplastic left heart syndrome 2	.		90
HP:0001627	HP:0001636	Tetralogy of Fallot	4	NKX2-5 CL E G H	1482	2488	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		90
HP:0001627	HP:0001636	Tetralogy of Fallot	4	NKX2-5 CL E G H	1482	2488	OMIM:187500	Tetralogy of Fallot	.		90
HP:0001627	HP:0001719	Double outlet right ventricle	4	NKX2-6 CL E G H	137814	32940	OMIM:217095	Conotruncal heart malformations	.		3
HP:0001627	HP:0001636	Tetralogy of Fallot	4	NKX2-6 CL E G H	137814	32940	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		3
HP:0001627	HP:0001636	Tetralogy of Fallot	4	NKX2-6 CL E G H	137814	32940	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional		3
HP:0001627	HP:0001719	Double outlet right ventricle	4	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		50
HP:0001627	HP:0001719	Double outlet right ventricle	4	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001627	HP:0011555	Double inlet left ventricle	4	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001627	HP:0031348	Dextrotransposition of the great arteries	4	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5			45
HP:0001627	HP:0001636	Tetralogy of Fallot	4	NODAL CL E G H	4838	7865	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		45
HP:0001627	HP:0001655	Patent foramen ovale	4	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional		10
HP:0001627	HP:0010316	Ebstein anomaly of the tricuspid valve	4	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional		10
HP:0001627	HP:0001655	Patent foramen ovale	4	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0001627	HP:0011664	Left ventricular noncompaction cardiomyopathy	4	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0001627	HP:0030682	Left ventricular noncompaction	4	NONO CL E G H	4841	7871	OMIM:300967	MENTAL RETARDATION, X-LINKED, SYNDROMIC 34; MRXS34			10
HP:0001627	HP:0001636	Tetralogy of Fallot	4	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		452
HP:0001627	HP:0001655	Patent foramen ovale	4	NOTCH1 CL E G H	4851	7881	OMIM:616028	Adams-Oliver syndrome 5	.		452
HP:0001627	HP:0001636	Tetralogy of Fallot	4	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1			452
HP:0001627	HP:0001647	Bicuspid aortic valve	4	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1	.		452
HP:0001627	HP:0001719	Double outlet right ventricle	4	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1	HP:0040284 - Very rare		452
HP:0001627	HP:0011560	Mitral atresia	4	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1	HP:0040284 - Very rare		452
HP:0001627	HP:0001647	Bicuspid aortic valve	4	NOTCH1 CL E G H	4851	7881	ORPHA:402075	Familial bicuspid aortic valve	HP:0040280 - Obligate		452
HP:0001627	HP:0001636	Tetralogy of Fallot	4	NOTCH2 CL E G H	4853	7882	OMIM:610205	Alagille syndrome 2	.		138
HP:0001627	HP:0001647	Bicuspid aortic valve	4	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	HP:0040283 - Occasional		144
HP:0001627	HP:0030682	Left ventricular noncompaction	4	NPPA CL E G H	4878	7939	ORPHA:1344	Atrial standstill	HP:0040282 - Frequent		13
HP:0001627	HP:0001634	Mitral valve prolapse	4	NPR3 CL E G H	4883	7945	OMIM:619543	BOUDIN-MORTIER SYNDROME; BOMOS
HP:0001627	HP:0001684	Secundum atrial septal defect	4	NR2F2 CL E G H	7026	7976	OMIM:618901	46,XX SEX REVERSAL 5; SRXX5			13
HP:0001627	HP:0001636	Tetralogy of Fallot	4	NR2F2 CL E G H	7026	7976	OMIM:615779	Congenital heart defects, multiple types, 4	.		13
HP:0001627	HP:0011623	Muscular ventricular septal defect	4	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1			544
HP:0001627	HP:0011623	Muscular ventricular septal defect	4	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0001627	HP:0011682	Perimembranous ventricular septal defect	4	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF			4
HP:0001627	HP:0001636	Tetralogy of Fallot	4	NXN CL E G H	64359	18008	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		2
HP:0001627	HP:0001647	Bicuspid aortic valve	4	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.		2
HP:0001627	HP:0001655	Patent foramen ovale	4	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0001627	HP:0001719	Double outlet right ventricle	4	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001719	Double outlet right ventricle	4	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001719	Double outlet right ventricle	4	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001719	Double outlet right ventricle	4	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001719	Double outlet right ventricle	4	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		201
HP:0001627	HP:0001647	Bicuspid aortic valve	4	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106			4
HP:0001627	HP:0001719	Double outlet right ventricle	4	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0001627	HP:0001719	Double outlet right ventricle	4	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis			3
HP:0001627	HP:0001647	Bicuspid aortic valve	4	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional		24
HP:0001627	HP:0001655	Patent foramen ovale	4	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional		24
HP:0001627	HP:0001647	Bicuspid aortic valve	4	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome	.		24
HP:0001627	HP:0001655	Patent foramen ovale	4	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome	.		24
HP:0001627	HP:0001636	Tetralogy of Fallot	4	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040283 - Occasional		641
HP:0001627	HP:0001719	Double outlet right ventricle	4	PAH CL E G H	5053	8582	ORPHA:2209	Maternal phenylketonuria	HP:0040283 - Occasional		641
HP:0001627	HP:0001636	Tetralogy of Fallot	4	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1349
HP:0001627	HP:0001634	Mitral valve prolapse	4	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0001627	HP:0001704	Tricuspid valve prolapse	4	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0001627	HP:0001636	Tetralogy of Fallot	4	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001719	Double outlet right ventricle	4	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.		62
HP:0001627	HP:0001684	Secundum atrial septal defect	4	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42			20
HP:0001627	HP:0001655	Patent foramen ovale	4	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.		37
HP:0001627	HP:0001636	Tetralogy of Fallot	4	PIGL CL E G H	9487	8966	ORPHA:3474	CHIME syndrome	HP:0040282 - Frequent		36
HP:0001627	HP:0001636	Tetralogy of Fallot	4	PIGL CL E G H	9487	8966	OMIM:280000	Zunich neuroectodermal syndrome	.		36
HP:0001627	HP:0001636	Tetralogy of Fallot	4	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040282 - Frequent		37
HP:0001627	HP:0001655	Patent foramen ovale	4	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040282 - Frequent		37
HP:0001627	HP:0001634	Mitral valve prolapse	4	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional		342
HP:0001627	HP:0001634	Mitral valve prolapse	4	PKD1 CL E G H	5310	9008	OMIM:173900	Polycystic kidneys			342
HP:0001627	HP:0001719	Double outlet right ventricle	4	PKD1L1 CL E G H	168507	18053	OMIM:617205	Heterotaxy, visceral, 8, autosomal	.		3
HP:0001627	HP:0001634	Mitral valve prolapse	4	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional		106
HP:0001627	HP:0001655	Patent foramen ovale	4	PKDCC CL E G H	91461	25123	OMIM:618821	RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES; RLSDF
HP:0001627	HP:0001719	Double outlet right ventricle	4	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0001627	HP:0001634	Mitral valve prolapse	4	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental	.		4
HP:0001627	HP:0001655	Patent foramen ovale	4	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental	.		4
HP:0001627	HP:0001704	Tricuspid valve prolapse	4	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental	.		4
HP:0001627	HP:0011555	Double inlet left ventricle	4	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0001627	HP:0011623	Muscular ventricular septal defect	4	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental			4
HP:0001627	HP:0011662	Tricuspid atresia	4	PLD1 CL E G H	5337	9067	OMIM:212093	Cardiac valvular defect, developmental	.		4
HP:0001627	HP:0001634	Mitral valve prolapse	4	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional		105
HP:0001627	HP:0001636	Tetralogy of Fallot	4	PLXND1 CL E G H	23129	9107	ORPHA:3384	Truncus arteriosus	HP:0040283 - Occasional
HP:0001627	HP:0001655	Patent foramen ovale	4	POGZ CL E G H	23126	18801	OMIM:616364	White-Sutton syndrome			35
HP:0001627	HP:0001634	Mitral valve prolapse	4	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.		464
HP:0001627	HP:0001634	Mitral valve prolapse	4	POLG CL E G H	5428	9179	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			464
HP:0001627	HP:0001684	Secundum atrial septal defect	4	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0001627	HP:0001647	Bicuspid aortic valve	4	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold			22
HP:0001627	HP:0001655	Patent foramen ovale	4	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2			9
HP:0001627	HP:0001647	Bicuspid aortic valve	4	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare		10
HP:0001627	HP:0001655	Patent foramen ovale	4	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare		10
HP:0001627	HP:0001636	Tetralogy of Fallot	4	PQBP1 CL E G H	10084	9330	OMIM:309500	Renpenning syndrome	.		28
HP:0001627	HP:0001684	Secundum atrial septal defect	4	PRDM13 CL E G H	59336	13998	OMIM:619909				2
HP:0001627	HP:0001636	Tetralogy of Fallot	4	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		148
HP:0001627	HP:0030682	Left ventricular noncompaction	4	PRDM16 CL E G H	63976	14000	OMIM:615373	Left ventricular noncompaction 8	.		148
HP:0001627	HP:0001634	Mitral valve prolapse	4	PRDM5 CL E G H	11107	9349	ORPHA:90354	Brittle cornea syndrome	HP:0040283 - Occasional		58
HP:0001627	HP:0001634	Mitral valve prolapse	4	PRG4 CL E G H	10216	9364	ORPHA:2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome			6
HP:0001627	HP:0001655	Patent foramen ovale	4	PRIM1 CL E G H	5557	9369	OMIM:620005
HP:0001627	HP:0001670	Asymmetric septal hypertrophy	4	PRKAG2 CL E G H	51422	9386	OMIM:600858	Cardiomyopathy, familial hypertrophic, 6	.		235
HP:0001627	HP:0001636	Tetralogy of Fallot	4	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001647	Bicuspid aortic valve	4	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		41
HP:0001627	HP:0001655	Patent foramen ovale	4	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC			1
HP:0001627	HP:0001684	Secundum atrial septal defect	4	PRRX1 CL E G H	5396	9142	OMIM:202650	Agnathia-Otocephaly complex			4
HP:0001627	HP:0011623	Muscular ventricular septal defect	4	PSMC1 CL E G H	5700	9547	OMIM:620071				1
HP:0001627	HP:0001636	Tetralogy of Fallot	4	PTCH1 CL E G H	5727	9585	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		665
HP:0001627	HP:0001684	Secundum atrial septal defect	4	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis	HP:0040283 - Occasional		22
HP:0001627	HP:0001682	Subvalvular aortic stenosis	4	PTPN11 CL E G H	5781	9644	OMIM:151100	Leopard syndrome 1	.		291
HP:0001627	HP:0001634	Mitral valve prolapse	4	PTPN11 CL E G H	5781	9644	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent		291
HP:0001627	HP:0001719	Double outlet right ventricle	4	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis			3
HP:0001627	HP:0001636	Tetralogy of Fallot	4	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional		19
HP:0001627	HP:0001647	Bicuspid aortic valve	4	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional		19
HP:0001627	HP:0011682	Perimembranous ventricular septal defect	4	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional		19
HP:0001627	HP:0001636	Tetralogy of Fallot	4	RAB23 CL E G H	51715	14263	OMIM:201000	Carpenter syndrome 1			31
HP:0001627	HP:0001647	Bicuspid aortic valve	4	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48			3
HP:0001627	HP:0001647	Bicuspid aortic valve	4	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:0001627	HP:0001655	Patent foramen ovale	4	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:0001627	HP:0001636	Tetralogy of Fallot	4	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4			25
HP:0001627	HP:0011682	Perimembranous ventricular septal defect	4	RAD21 CL E G H	5885	9811	OMIM:611376	Mungan syndrome	.		25
HP:0001627	HP:0001636	Tetralogy of Fallot	4	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		9
HP:0001627	HP:0001636	Tetralogy of Fallot	4	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		391
HP:0001627	HP:0001634	Mitral valve prolapse	4	RAF1 CL E G H	5894	9829	ORPHA:500	Noonan syndrome with multiple lentigines	HP:0040282 - Frequent		212
HP:0001627	HP:0001647	Bicuspid aortic valve	4	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional		150
HP:0001627	HP:0001655	Patent foramen ovale	4	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional		150
HP:0001627	HP:0001719	Double outlet right ventricle	4	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional		150
HP:0001627	HP:0001636	Tetralogy of Fallot	4	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	HP:0040283 - Occasional		16
HP:0001627	HP:0001636	Tetralogy of Fallot	4	RBM10 CL E G H	8241	9896	ORPHA:2886	TARP syndrome	HP:0040284 - Very rare		16
HP:0001627	HP:0001636	Tetralogy of Fallot	4	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome			10
HP:0001627	HP:0001636	Tetralogy of Fallot	4	RBM8A CL E G H	9939	9905	ORPHA:3320	Thrombocytopenia-absent radius syndrome	HP:0040283 - Occasional		10
HP:0001627	HP:0001636	Tetralogy of Fallot	4	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		3
HP:0001627	HP:0001655	Patent foramen ovale	4	RELN CL E G H	5649	9957	ORPHA:89844	Lissencephaly syndrome, Norman-Roberts type	HP:0040283 - Occasional		334
HP:0001627	HP:0001636	Tetralogy of Fallot	4	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		16
HP:0001627	HP:0001655	Patent foramen ovale	4	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart			16
HP:0001627	HP:0001634	Mitral valve prolapse	4	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001627	HP:0001636	Tetralogy of Fallot	4	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001647	Bicuspid aortic valve	4	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001636	Tetralogy of Fallot	4	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0001627	HP:0001655	Patent foramen ovale	4	RIPK4 CL E G H	54101	496	OMIM:263650	Popliteal pterygium syndrome, Bartsocas-Papas type 1			69
HP:0001627	HP:0001636	Tetralogy of Fallot	4	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.		15
HP:0001627	HP:0001655	Patent foramen ovale	4	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0001627	HP:0011623	Muscular ventricular septal defect	4	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0001627	HP:0001647	Bicuspid aortic valve	4	ROBO4 CL E G H	54538	17985	OMIM:618496	Aortic valve disease 3	.
HP:0001627	HP:0001636	Tetralogy of Fallot	4	ROR2 CL E G H	4920	10257	ORPHA:1507	Autosomal recessive Robinow syndrome	HP:0040283 - Occasional		120
HP:0001627	HP:0001719	Double outlet right ventricle	4	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		200
HP:0001627	HP:0001636	Tetralogy of Fallot	4	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7			22
HP:0001627	HP:0001684	Secundum atrial septal defect	4	RPL11 CL E G H	6135	10301	OMIM:612562	Diamond-Blackfan anemia 7	.		22
HP:0001627	HP:0001647	Bicuspid aortic valve	4	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11	.		3
HP:0001627	HP:0001655	Patent foramen ovale	4	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0001627	HP:0011623	Muscular ventricular septal defect	4	RPL3L CL E G H	6123	10351	OMIM:619371	CARDIOMYOPATHY, DILATED, 2D; CMD2D
HP:0001627	HP:0001634	Mitral valve prolapse	4	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6	.		40
HP:0001627	HP:0001636	Tetralogy of Fallot	4	RPL5 CL E G H	6125	10360	OMIM:612561	Diamond-Blackfan anemia 6	.		40
HP:0001627	HP:0001636	Tetralogy of Fallot	4	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12			1
HP:0001627	HP:0001636	Tetralogy of Fallot	4	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001627	HP:0011662	Tricuspid atresia	4	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001719	Double outlet right ventricle	4	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		31
HP:0001627	HP:0001719	Double outlet right ventricle	4	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		5
HP:0001627	HP:0001719	Double outlet right ventricle	4	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		58
HP:0001627	HP:0001719	Double outlet right ventricle	4	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		20
HP:0001627	HP:0001655	Patent foramen ovale	4	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:0001627	HP:0001634	Mitral valve prolapse	4	RYR1 CL E G H	6261	10483	ORPHA:597	Central core disease	HP:0040282 - Frequent		1200
HP:0001627	HP:0011664	Left ventricular noncompaction cardiomyopathy	4	RYR2 CL E G H	6262	10484	OMIM:115000	CARDIAC ARRHYTHMIA			1103
HP:0001627	HP:0001634	Mitral valve prolapse	4	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040282 - Frequent		309
HP:0001627	HP:0001636	Tetralogy of Fallot	4	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional		124
HP:0001627	HP:0001636	Tetralogy of Fallot	4	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1	.		124
HP:0001627	HP:0001636	Tetralogy of Fallot	4	SALL4 CL E G H	57167	15924	ORPHA:959	Acro-renal-ocular syndrome	HP:0040283 - Occasional		86
HP:0001627	HP:0001636	Tetralogy of Fallot	4	SALL4 CL E G H	57167	15924	OMIM:147750	Ivic syndrome			86
HP:0001627	HP:0030682	Left ventricular noncompaction	4	SCN5A CL E G H	6331	10593	ORPHA:1344	Atrial standstill	HP:0040282 - Frequent		1134
HP:0001627	HP:0001655	Patent foramen ovale	4	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:0001627	HP:0030682	Left ventricular noncompaction	4	SDHA CL E G H	6389	10680	OMIM:613642	Cardiomyopathy, dilated, 1gg			304
HP:0001627	HP:0030682	Left ventricular noncompaction	4	SDHA CL E G H	6389	10680	OMIM:252011	Mitochondrial complex II deficiency	.		304
HP:0001627	HP:0001655	Patent foramen ovale	4	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0001627	HP:0030682	Left ventricular noncompaction	4	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3			129
HP:0001627	HP:0001636	Tetralogy of Fallot	4	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001627	HP:0011662	Tricuspid atresia	4	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0011682	Perimembranous ventricular septal defect	4	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0001627	HP:0001634	Mitral valve prolapse	4	SELENON CL E G H	57190	15999	ORPHA:324604	Classic multiminicore myopathy	HP:0040283 - Occasional		144
HP:0001627	HP:0001636	Tetralogy of Fallot	4	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent		16
HP:0001627	HP:0001655	Patent foramen ovale	4	SETD1A CL E G H	9739	29010	OMIM:618832	EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY; EPEDD			6
HP:0001627	HP:0001636	Tetralogy of Fallot	4	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.		2
HP:0001627	HP:0001636	Tetralogy of Fallot	4	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.		49
HP:0001627	HP:0001647	Bicuspid aortic valve	4	SGO1 CL E G H	151648	25088	OMIM:616201	Chronic atrial and intestinal dysrhythmia	HP:0040283 - Occasional		2
HP:0001627	HP:0001670	Asymmetric septal hypertrophy	4	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA	.		97
HP:0001627	HP:0001634	Mitral valve prolapse	4	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0001627	HP:0001634	Mitral valve prolapse	4	SH3PXD2B CL E G H	285590	29242	ORPHA:137834	Frank-Ter Haar syndrome	HP:0040281 - Very frequent		134
HP:0001627	HP:0001655	Patent foramen ovale	4	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0001627	HP:0001684	Secundum atrial septal defect	4	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0001627	HP:0001719	Double outlet right ventricle	4	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome			134
HP:0001627	HP:0001636	Tetralogy of Fallot	4	SHH CL E G H	6469	10848	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		67
HP:0001627	HP:0001684	Secundum atrial septal defect	4	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0001627	HP:0001636	Tetralogy of Fallot	4	SIX3 CL E G H	6496	10889	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		32
HP:0001627	HP:0001636	Tetralogy of Fallot	4	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		150
HP:0001627	HP:0001634	Mitral valve prolapse	4	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0001627	HP:0001634	Mitral valve prolapse	4	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent		150
HP:0001627	HP:0001636	Tetralogy of Fallot	4	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0001627	HP:0001647	Bicuspid aortic valve	4	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0001627	HP:0001636	Tetralogy of Fallot	4	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0001627	HP:0001647	Bicuspid aortic valve	4	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0001627	HP:0001636	Tetralogy of Fallot	4	SKIC3 CL E G H	9652	23639	OMIM:222470	Trichohepatoenteric syndrome 1	HP:0040283 - Occasional	HP:0030674 - Antenatal onset
HP:0001627	HP:0001647	Bicuspid aortic valve	4	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0001627	HP:0001634	Mitral valve prolapse	4	SLC29A3 CL E G H	55315	23096	OMIM:602782	Histiocytosis-lymphadenopathy plus syndrome			68
HP:0001627	HP:0004382	Mitral valve calcification	4	SLC34A2 CL E G H	10568	11020	ORPHA:60025	Pulmonary alveolar microlithiasis	HP:0040284 - Very rare		7
HP:0001627	HP:0001636	Tetralogy of Fallot	4	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare		27
HP:0001627	HP:0001636	Tetralogy of Fallot	4	SLC37A4 CL E G H	2542	4061	OMIM:619525	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIw; CDG2W			110
HP:0001627	HP:0001634	Mitral valve prolapse	4	SLC6A6 CL E G H	6533	11052	OMIM:145350	Hypotaurinemic retinal degeneration and cardiomyopathy	.
HP:0001627	HP:0001636	Tetralogy of Fallot	4	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		274
HP:0001627	HP:0001719	Double outlet right ventricle	4	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0001627	HP:0031348	Dextrotransposition of the great arteries	4	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8			7
HP:0001627	HP:0001647	Bicuspid aortic valve	4	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		7
HP:0001627	HP:0001647	Bicuspid aortic valve	4	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		260
HP:0001627	HP:0001634	Mitral valve prolapse	4	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0001627	HP:0001647	Bicuspid aortic valve	4	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3			260
HP:0001627	HP:0001647	Bicuspid aortic valve	4	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		504
HP:0001627	HP:0001634	Mitral valve prolapse	4	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	HP:0040283 - Occasional		504
HP:0001627	HP:0001647	Bicuspid aortic valve	4	SMAD6 CL E G H	4091	6772	OMIM:614823	Aortic valve disease 2	.		33
HP:0001627	HP:0001647	Bicuspid aortic valve	4	SMAD6 CL E G H	4091	6772	ORPHA:402075	Familial bicuspid aortic valve	HP:0040280 - Obligate		33
HP:0001627	HP:0001636	Tetralogy of Fallot	4	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		617
HP:0001627	HP:0001636	Tetralogy of Fallot	4	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		87
HP:0001627	HP:0001636	Tetralogy of Fallot	4	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001636	Tetralogy of Fallot	4	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001636	Tetralogy of Fallot	4	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		47
HP:0001627	HP:0001647	Bicuspid aortic valve	4	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3			91
HP:0001627	HP:0001655	Patent foramen ovale	4	SMG8 CL E G H	55181	25551	OMIM:619268	ALZAHRANI-KUWAHARA SYNDROME; ALKUS
HP:0001627	HP:0031348	Dextrotransposition of the great arteries	4	SMG9 CL E G H	56006	25763	OMIM:619995				2
HP:0001627	HP:0001647	Bicuspid aortic valve	4	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	.		3
HP:0001627	HP:0001655	Patent foramen ovale	4	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional		37
HP:0001627	HP:0001636	Tetralogy of Fallot	4	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional		14
HP:0001627	HP:0001636	Tetralogy of Fallot	4	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001719	Double outlet right ventricle	4	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		45
HP:0001627	HP:0001636	Tetralogy of Fallot	4	SPECC1L CL E G H	23384	29022	ORPHA:1519	SPECC1L-related hypertelorism syndrome	HP:0040283 - Occasional		6
HP:0001627	HP:0001719	Double outlet right ventricle	4	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		15
HP:0001627	HP:0001636	Tetralogy of Fallot	4	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional		4
HP:0001627	HP:0001634	Mitral valve prolapse	4	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome			136
HP:0001627	HP:0001634	Mitral valve prolapse	4	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0001627	HP:0001647	Bicuspid aortic valve	4	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0001627	HP:0001636	Tetralogy of Fallot	4	SRCAP CL E G H	10847	16974	ORPHA:2044	Floating-Harbor syndrome	HP:0040284 - Very rare		138
HP:0001627	HP:0001647	Bicuspid aortic valve	4	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional		23
HP:0001627	HP:0001655	Patent foramen ovale	4	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0001627	HP:0001719	Double outlet right ventricle	4	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13			1
HP:0001627	HP:0001655	Patent foramen ovale	4	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.		24
HP:0001627	HP:0001655	Patent foramen ovale	4	STAT1 CL E G H	6772	11362	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional		89
HP:0001627	HP:0001719	Double outlet right ventricle	4	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		3
HP:0001627	HP:0001636	Tetralogy of Fallot	4	STRA6 CL E G H	64220	30650	OMIM:601186	Microphthalmia, syndromic 9	.		71
HP:0001627	HP:0001634	Mitral valve prolapse	4	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001627	HP:0001636	Tetralogy of Fallot	4	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001647	Bicuspid aortic valve	4	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001655	Patent foramen ovale	4	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040284 - Very rare		60
HP:0001627	HP:0001636	Tetralogy of Fallot	4	SUFU CL E G H	51684	16466	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		124
HP:0001627	HP:0011623	Muscular ventricular septal defect	4	SVBP CL E G H	374969	29204	OMIM:618569	NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY; NEDAHM
HP:0001627	HP:0001682	Subvalvular aortic stenosis	4	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B			4
HP:0001627	HP:0001634	Mitral valve prolapse	4	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2			11
HP:0001627	HP:0001636	Tetralogy of Fallot	4	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2	.		11
HP:0001627	HP:0001647	Bicuspid aortic valve	4	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2	.		11
HP:0001627	HP:0001682	Subvalvular aortic stenosis	4	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2	.		11
HP:0001627	HP:0001634	Mitral valve prolapse	4	TAB2 CL E G H	23118	17075	ORPHA:228410	Polyvalvular heart disease syndrome	HP:0040281 - Very frequent		11
HP:0001627	HP:0001647	Bicuspid aortic valve	4	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40	HP:0040283 - Occasional		7
HP:0001627	HP:0001647	Bicuspid aortic valve	4	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome	HP:0040283 - Occasional		7
HP:0001627	HP:0001655	Patent foramen ovale	4	TALDO1 CL E G H	6888	11559	OMIM:606003	Transaldolase deficiency	.		34
HP:0001627	HP:0001655	Patent foramen ovale	4	TASP1 CL E G H	55617	15859	OMIM:618950	SULEIMAN-EL-HATTAB SYNDROME; SULEHS
HP:0001627	HP:0001719	Double outlet right ventricle	4	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040283 - Occasional		271
HP:0001627	HP:0001634	Mitral valve prolapse	4	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001627	HP:0001636	Tetralogy of Fallot	4	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001647	Bicuspid aortic valve	4	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001636	Tetralogy of Fallot	4	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent		32
HP:0001627	HP:0011662	Tricuspid atresia	4	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0001627	HP:0001636	Tetralogy of Fallot	4	TBX1 CL E G H	6899	11592	ORPHA:1727	22q11.2 duplication syndrome	HP:0040283 - Occasional		32
HP:0001627	HP:0001719	Double outlet right ventricle	4	TBX1 CL E G H	6899	11592	OMIM:217095	Conotruncal heart malformations	.		32
HP:0001627	HP:0001636	Tetralogy of Fallot	4	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome	.		32
HP:0001627	HP:0001636	Tetralogy of Fallot	4	TBX1 CL E G H	6899	11592	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		32
HP:0001627	HP:0001636	Tetralogy of Fallot	4	TBX1 CL E G H	6899	11592	OMIM:187500	Tetralogy of Fallot	.		32
HP:0001627	HP:0001636	Tetralogy of Fallot	4	TBX1 CL E G H	6899	11592	OMIM:192430	Velocardiofacial syndrome			32
HP:0001627	HP:0001719	Double outlet right ventricle	4	TBX2 CL E G H	6909	11597	OMIM:618223	VERTEBRAL ANOMALIES AND VARIABLE ENDOCRINE AND T-CELL DYSFUNCTION	.
HP:0001627	HP:0001655	Patent foramen ovale	4	TBX20 CL E G H	57057	11598	OMIM:611363	ATRIAL SEPTAL DEFECT 4; ASD4			20
HP:0001627	HP:0001684	Secundum atrial septal defect	4	TBX5 CL E G H	6910	11604	OMIM:142900	Holt-Oram syndrome			123
HP:0001627	HP:0001636	Tetralogy of Fallot	4	TDGF1 CL E G H	6997	11701	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		1
HP:0001627	HP:0001647	Bicuspid aortic valve	4	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		162
HP:0001627	HP:0001634	Mitral valve prolapse	4	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4			162
HP:0001627	HP:0001647	Bicuspid aortic valve	4	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4			162
HP:0001627	HP:0001647	Bicuspid aortic valve	4	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		85
HP:0001627	HP:0001655	Patent foramen ovale	4	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5			85
HP:0001627	HP:0001647	Bicuspid aortic valve	4	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		239
HP:0001627	HP:0001634	Mitral valve prolapse	4	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0001627	HP:0001647	Bicuspid aortic valve	4	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional		253
HP:0001627	HP:0001634	Mitral valve prolapse	4	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0001627	HP:0001647	Bicuspid aortic valve	4	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0001627	HP:0005182	Bicuspid pulmonary valve	4	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0001627	HP:0001636	Tetralogy of Fallot	4	TGIF1 CL E G H	7050	11776	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		32
HP:0001627	HP:0011623	Muscular ventricular septal defect	4	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0011682	Perimembranous ventricular septal defect	4	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040283 - Occasional		1
HP:0001627	HP:0001647	Bicuspid aortic valve	4	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12			2
HP:0001627	HP:0001655	Patent foramen ovale	4	TKT CL E G H	7086	11834	OMIM:617044	Short stature, developmental delay, and congenital heart defects	.		4
HP:0001627	HP:0001655	Patent foramen ovale	4	TKT CL E G H	7086	11834	ORPHA:488618	Transketolase deficiency	HP:0040283 - Occasional		4
HP:0001627	HP:0001655	Patent foramen ovale	4	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0001627	HP:0001636	Tetralogy of Fallot	4	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0001627	HP:0011662	Tricuspid atresia	4	TMEM260 CL E G H	54916	20185	OMIM:617478	Structural heart defects and renal anomalies syndrome			2
HP:0001627	HP:0001634	Mitral valve prolapse	4	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001627	HP:0001636	Tetralogy of Fallot	4	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001647	Bicuspid aortic valve	4	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001636	Tetralogy of Fallot	4	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.		1
HP:0001627	HP:0001655	Patent foramen ovale	4	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.		1
HP:0001627	HP:0001719	Double outlet right ventricle	4	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies	.		1
HP:0001627	HP:0025523	Abnormal morphology of the chordae tendinae of the mitral valve	4	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0001627	HP:0005157	Concentric hypertrophic cardiomyopathy	4	TNNC1 CL E G H	7134	11943	OMIM:613243	Cardiomyopathy, familial hypertrophic, 13			73
HP:0001627	HP:0031992	Apical hypertrophic cardiomyopathy	4	TNNI3 CL E G H	7137	11947	OMIM:613690	Cardiomyopathy, familial hypertrophic, 7			180
HP:0001627	HP:0030682	Left ventricular noncompaction	4	TNNT2 CL E G H	7139	11949	OMIM:601494	Cardiomyopathy, dilated, 1D	HP:0040283 - Occasional		248
HP:0001627	HP:0001634	Mitral valve prolapse	4	TNXB CL E G H	7148	11976	ORPHA:230839	Classical-like Ehlers-Danlos syndrome type 1	HP:0040283 - Occasional		134
HP:0001627	HP:0001634	Mitral valve prolapse	4	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like	.		134
HP:0001627	HP:0031655	Quadricuspid aortic valve	4	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like	.		134
HP:0001627	HP:0001655	Patent foramen ovale	4	TOM1 CL E G H	10043	11982	ORPHA:391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	HP:0040283 - Occasional
HP:0001627	HP:0010316	Ebstein anomaly of the tricuspid valve	4	TPM1 CL E G H	7168	12010	OMIM:611878	Cardiomyopathy, dilated, 1Y			230
HP:0001627	HP:0011664	Left ventricular noncompaction cardiomyopathy	4	TPM1 CL E G H	7168	12010	OMIM:611878	Cardiomyopathy, dilated, 1Y			230
HP:0001627	HP:0001634	Mitral valve prolapse	4	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional		54
HP:0001627	HP:0001634	Mitral valve prolapse	4	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional		108
HP:0001627	HP:0001719	Double outlet right ventricle	4	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0001627	HP:0001682	Subvalvular aortic stenosis	4	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040283 - Occasional		2
HP:0001627	HP:0001655	Patent foramen ovale	4	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0001627	HP:0001684	Secundum atrial septal defect	4	TRIP4 CL E G H	9325	12310	OMIM:616866	Spinal muscular atrophy with congenital bone fractures 1			4
HP:0001627	HP:0005157	Concentric hypertrophic cardiomyopathy	4	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0005157	Concentric hypertrophic cardiomyopathy	4	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0005157	Concentric hypertrophic cardiomyopathy	4	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0005157	Concentric hypertrophic cardiomyopathy	4	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0005157	Concentric hypertrophic cardiomyopathy	4	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0005157	Concentric hypertrophic cardiomyopathy	4	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0005157	Concentric hypertrophic cardiomyopathy	4	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040283 - Occasional
HP:0001627	HP:0001655	Patent foramen ovale	4	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.		2
HP:0001627	HP:0001655	Patent foramen ovale	4	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.		43
HP:0001627	HP:0005157	Concentric hypertrophic cardiomyopathy	4	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.		43
HP:0001627	HP:0001719	Double outlet right ventricle	4	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0001627	HP:0001655	Patent foramen ovale	4	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001627	HP:0001684	Secundum atrial septal defect	4	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001627	HP:0010445	Primum atrial septal defect	4	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001627	HP:0011622	Inlet ventricular septal defect	4	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0001627	HP:0001634	Mitral valve prolapse	4	TTN CL E G H	7273	12403	ORPHA:324604	Classic multiminicore myopathy	HP:0040283 - Occasional		7128
HP:0001627	HP:0001636	Tetralogy of Fallot	4	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare		14
HP:0001627	HP:0001634	Mitral valve prolapse	4	TWNK CL E G H	56652	1160	OMIM:607459	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis			113
HP:0001627	HP:0001636	Tetralogy of Fallot	4	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional		7
HP:0001627	HP:0001655	Patent foramen ovale	4	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional		7
HP:0001627	HP:0001719	Double outlet right ventricle	4	UBE2A CL E G H	7319	12472	ORPHA:163956	X-linked intellectual disability, Nascimento type	HP:0040283 - Occasional		7
HP:0001627	HP:0001636	Tetralogy of Fallot	4	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		2
HP:0001627	HP:0001636	Tetralogy of Fallot	4	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001655	Patent foramen ovale	4	UBR7 CL E G H	55148	20344	OMIM:619189	LI-CAMPEAU SYNDROME; LICAS			1
HP:0001627	HP:0001636	Tetralogy of Fallot	4	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040281 - Very frequent
HP:0001627	HP:0011662	Tricuspid atresia	4	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001684	Secundum atrial septal defect	4	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2			2
HP:0001627	HP:0001636	Tetralogy of Fallot	4	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040284 - Very rare		6
HP:0001627	HP:0030682	Left ventricular noncompaction	4	VARS2 CL E G H	57176	21642	OMIM:615917	Combined oxidative phosphorylation deficiency 20			56
HP:0001627	HP:0031992	Apical hypertrophic cardiomyopathy	4	VCL CL E G H	7414	12665	OMIM:613255	Cardiomyopathy, familial hypertrophic, 15			248
HP:0001627	HP:0001634	Mitral valve prolapse	4	VPS13B CL E G H	157680	2183	ORPHA:193	Cohen syndrome	HP:0040283 - Occasional		546
HP:0001627	HP:0001634	Mitral valve prolapse	4	VPS13B CL E G H	157680	2183	OMIM:216550	Cohen syndrome	.		546
HP:0001627	HP:0001655	Patent foramen ovale	4	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional		1
HP:0001627	HP:0001655	Patent foramen ovale	4	VPS33B CL E G H	26276	12712	OMIM:208085	Arthrogryposis, renal dysfunction, and cholestasis 1			63
HP:0001627	HP:0001634	Mitral valve prolapse	4	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040282 - Frequent
HP:0001627	HP:0001636	Tetralogy of Fallot	4	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001647	Bicuspid aortic valve	4	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0001627	HP:0001634	Mitral valve prolapse	4	VWF CL E G H	7450	12726	OMIM:193400	Von willebrand disease, type 1	.		533
HP:0001627	HP:0001647	Bicuspid aortic valve	4	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:0001627	HP:0001636	Tetralogy of Fallot	4	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent		83
HP:0001627	HP:0001636	Tetralogy of Fallot	4	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.		83
HP:0001627	HP:0001719	Double outlet right ventricle	4	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.		83
HP:0001627	HP:0011623	Muscular ventricular septal defect	4	WBP11 CL E G H	51729	16461	OMIM:619227	VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS; VCTERL
HP:0001627	HP:0001682	Subvalvular aortic stenosis	4	WDPCP CL E G H	51057	28027	OMIM:217085	Congenital heart defects, hamartomas of tongue, and polysyndactyly	.		60
HP:0001627	HP:0001682	Subvalvular aortic stenosis	4	WDPCP CL E G H	51057	28027	ORPHA:1338	Heart defect-tongue hamartoma-polysyndactyly syndrome	HP:0040281 - Very frequent		60
HP:0001627	HP:0001655	Patent foramen ovale	4	WDR35 CL E G H	57539	29250	OMIM:613610	Cranioectodermal dysplasia 2	.		136
HP:0001627	HP:0001655	Patent foramen ovale	4	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0001627	HP:0001655	Patent foramen ovale	4	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0001627	HP:0001636	Tetralogy of Fallot	4	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001627	HP:0001636	Tetralogy of Fallot	4	WT1 CL E G H	7490	12796	ORPHA:3097	Meacham syndrome	HP:0040283 - Occasional		177
HP:0001627	HP:0001647	Bicuspid aortic valve	4	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME			177
HP:0001627	HP:0001636	Tetralogy of Fallot	4	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		125
HP:0001627	HP:0001634	Mitral valve prolapse	4	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			14
HP:0001627	HP:0001634	Mitral valve prolapse	4	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE			5
HP:0001627	HP:0001634	Mitral valve prolapse	4	XYLT2 CL E G H	64132	15517	OMIM:605822	Spondyloocular syndrome	.		5
HP:0001627	HP:0001655	Patent foramen ovale	4	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome			7
HP:0001627	HP:0001655	Patent foramen ovale	4	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional		7
HP:0001627	HP:0010316	Ebstein anomaly of the tricuspid valve	4	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional		7
HP:0001627	HP:0001647	Bicuspid aortic valve	4	YY1AP1 CL E G H	55249	30935	OMIM:602531	Grange syndrome	HP:0040283 - Occasional		5
HP:0001627	HP:0001636	Tetralogy of Fallot	4	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional		362
HP:0001627	HP:0001647	Bicuspid aortic valve	4	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional		362
HP:0001627	HP:0001636	Tetralogy of Fallot	4	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional		362
HP:0001627	HP:0001647	Bicuspid aortic valve	4	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional		362
HP:0001627	HP:0001636	Tetralogy of Fallot	4	ZFPM2 CL E G H	23414	16700	ORPHA:3303	Tetralogy of Fallot	HP:0040282 - Frequent		31
HP:0001627	HP:0001636	Tetralogy of Fallot	4	ZFPM2 CL E G H	23414	16700	OMIM:187500	Tetralogy of Fallot	.		31
HP:0001627	HP:0001636	Tetralogy of Fallot	4	ZIC2 CL E G H	7546	12873	ORPHA:280200	Microform holoprosencephaly	HP:0040283 - Occasional		34
HP:0001627	HP:0001655	Patent foramen ovale	4	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0001682	Subvalvular aortic stenosis	4	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0001719	Double outlet right ventricle	4	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0011560	Mitral atresia	4	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked	.		39
HP:0001627	HP:0031348	Dextrotransposition of the great arteries	4	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0001627	HP:0004382	Mitral valve calcification	4	ZMPSTE24 CL E G H	10269	12877	ORPHA:740	Hutchinson-Gilford progeria syndrome	HP:0040283 - Occasional		83
HP:0001627	HP:0001719	Double outlet right ventricle	4	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		20
HP:0001627	HP:0001647	Bicuspid aortic valve	4	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0001627	HP:0031348	Dextrotransposition of the great arteries	4	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA			4
HP:0001627	HP:0001634	Mitral valve prolapse	4	ZNF469 CL E G H	84627	23216	ORPHA:90354	Brittle cornea syndrome	HP:0040283 - Occasional		397
HP:0001627	HP:0001634	Mitral valve prolapse	4	ZNF469 CL E G H	84627	23216	OMIM:229200	Brittle cornea syndrome	.		397
HP:0001627	HP:0001655	Patent foramen ovale	4	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0001627	HP:0001691	Muscular subvalvular aortic stenosis	5	CL E G H
HP:0001627	HP:0005174	Membranous subvalvular aortic stenosis	5	CL E G H
HP:0001627	HP:0011558	Double inlet to single ventricle with common atrioventricular orifice	5	CL E G H
HP:0001627	HP:0011559	Double inlet to single ventricle with two atrioventricular valves	5	CL E G H
HP:0001627	HP:0011569	Cleft anterior mitral valve leaflet	5	CL E G H
HP:0001627	HP:0011624	Apical muscular ventricular septal defect	5	CL E G H
HP:0001627	HP:0011652	Double outlet right ventricle with doubly committed ventricular septal defect without pulmonary stenosis	5	CL E G H
HP:0001627	HP:0011653	Double outlet right ventricle with non-committed ventricular septal defect and pulmonary stenosis	5	CL E G H
HP:0001627	HP:0011654	Double outlet right ventricle with non-committed ventricular septal defect without pulmonary stenosis	5	CL E G H
HP:0001627	HP:0011655	Double outlet right ventricle with subaortic ventricular septal defect and pulmonary stenosis	5	CL E G H
HP:0001627	HP:0011656	Double outlet right ventricle with subaortic ventricular septal defect without pulmonary stenosis	5	CL E G H
HP:0001627	HP:0011657	Double outlet right ventricle with subpulmonary ventricular septal defect and pulmonary stenosis	5	CL E G H
HP:0001627	HP:0011659	Tetralogy of Fallot with absent pulmonary valve	5	CL E G H
HP:0001627	HP:0011676	Tetralogy of Fallot with absent subarterial conus	5	CL E G H
HP:0001627	HP:0011677	Tetralogy of Fallot with atrioventricular canal defect	5	CL E G H
HP:0001627	HP:0011679	Tetralogy of Fallot with pulmonary stenosis	5	CL E G H
HP:0001627	HP:0012516	Tetralogy of Fallot with pulmonary atresia	5	CL E G H
HP:0001627	HP:0025448	Anterior displacement of the papillary muscles	5	CL E G H
HP:0001627	HP:0025449	Apically displaced anterolateral papillary muscle	5	CL E G H
HP:0001627	HP:0025522	Elongated chordae tendinae of the mitral valve	5	CL E G H
HP:0001627	HP:0030719	Unguarded tricuspid valve	5	CL E G H
HP:0001627	HP:0031117	Purely bicuspid aortic valve	5	CL E G H
HP:0001627	HP:0031118	Single raphe bicuspid aortic valve	5	CL E G H
HP:0001627	HP:0031122	Two-raphe bicuspid aortic valve	5	CL E G H
HP:0001627	HP:0031444	Dilatation of the tricuspid annulus	5	CL E G H
HP:0001627	HP:0033642	Mitral valve leaflet calcification	5	CL E G H
HP:0001627	HP:0034419	Mitral chordae tendinae rupture	5	CL E G H
HP:0001627	HP:0011625	Multiple muscular ventricular septal defects	5	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0001627	HP:0004764	Myxomatous mitral valve degeneration	5	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome			172
HP:0001627	HP:0005136	Mitral annular calcification	5	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	.		1361
HP:0001627	HP:0006692	Short chordae tendineae of the tricuspid valve	5	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked	.		493
HP:0001627	HP:0011580	Short chordae tendineae of the mitral valve	5	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked	.		493
HP:0001627	HP:0011571	Parachute mitral valve	5	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins			61
HP:0001627	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	5	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		4
HP:0001627	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	5	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		2
HP:0001627	HP:0011651	Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis	5	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040283 - Occasional		3
HP:0001627	HP:0004764	Myxomatous mitral valve degeneration	5	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome			1
HP:0001627	HP:0011625	Multiple muscular ventricular septal defects	5	MYCN CL E G H	4613	7559	ORPHA:391641	Feingold syndrome type 1	HP:0040283 - Occasional		35
HP:0001627	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	5	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0001627	HP:0011658	Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis	5	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional		3
HP:0001627	HP:0004764	Myxomatous mitral valve degeneration	5	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2	.		11
HP:0001627	HP:0011571	Parachute mitral valve	5	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies			1
HP:0001627	HP:0011678	Tetralogy of Fallot with pulmonary atresia and major aortopulmonary collateral arteries	6	CL E G H
HP:0001627	HP:0031119	Bicuspid aortic valve with right-left cusp fusion	6	CL E G H
HP:0001627	HP:0031120	Bicuspid aortic valve with right-noncoronary cusp fusion	6	CL E G H
HP:0001627	HP:0031121	Bicuspid aortic valve with left-noncoronary cusp fusion	6	CL E G H

Genes (1448) :AARS2 ABCA1 ABCC6 ABCC8 ABCC9 ABCD4 ABCG5 ABCG8 ABHD5 ABL1 ACAD8 ACAD9 ACADM ACADS ACADVL ACSL4 ACTA1 ACTA2 ACTB ACTC1 ACTG2 ACTN2 ACVR2B ADA2 ADAM17 ADAMTS10 ADAMTS19 ADAMTS3 ADAR ADAT3 ADCY5 ADK ADNP ADORA2A AEBP1 AFF4 AGGF1 AGK AGL AGO2 AGPAT2 AHCY AHI1 AIP AKT3 ALDH18A1 ALDH1A2 ALG1 ALG12 ALG3 ALG5 ALG8 ALG9 ALKBH8 ALMS1 ALPK3 ALX1 ALX3 AMER1 AMMECR1 ANAPC7 ANK1 ANKRD1 ANKRD11 ANKS6 ANO5 APC2 APOB ARCN1 ARF1 ARFGEF2 ARHGAP31 ARID1A ARID1B ARID2 ARL13B ARL2BP ARL3 ARL6 ARMC9 ARSB ARSK ARSL ARVCF ARX ASCC1 ASXL1 ASXL2 ATAD3A ATIC ATN1 ATP13A3 ATP1A2 ATP1A3 ATP2B1 ATP5F1D ATP5F1E ATP5MK ATP6 ATP6AP2 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATRX AUTS2 B2M B3GALT6 B3GAT3 B3GLCT B9D1 B9D2 BAG3 BAG5 BANF1 BAP1 BAZ1B BBS1 BBS2 BCAS3 BCL7B BCOR BCR BCS1L BICC1 BICRA BIN1 BLTP1 BMP2 BMP6 BMPR1A BMPR2 BOLA3 BRAF BRCA1 BRCA2 BRCC3 BRD4 BRF1 BRIP1 BSCL2 BTK BUB1 BUB1B BUB3 BUD23 C1QBP C2CD3 C4A CACNA1A CACNA1C CACNA1D CACNA1S CALCRL CALM2 CALM3 CAMK2A CANT1 CAP2 CAPN15 CARS1 CASK CASQ2 CASZ1 CAV1 CAV3 CAVIN1 CBL CBS CBY1 CC2D2A CCBE1 CCDC103 CCDC174 CCDC22 CCDC28B CCDC32 CCDC39 CCDC40 CCDC65 CCND1 CCND2 CCNO CCNQ CCR1 CD96 CDC42 CDC42BPB CDC45 CDH2 CDH23 CDK10 CDK13 CDK8 CDKL5 CDKN1C CDON CENPE CEP104 CEP120 CEP290 CEP41 CEP57 CFAP221 CFAP298 CFAP300 CFAP45 CFAP52 CFAP53 CFC1 CFTR CHD4 CHD7 CHKB CHMP1A CHRM3 CHRNA1 CHRND CHRNG CHST14 CHST3 CHUK CIROP CISD2 CITED2 CKAP2L CLCN3 CLCN7 CLCNKB CLEC7A CLIC2 CLIP2 CLN3 CLPB COA5 COA6 COA8 COG1 COG6 COG7 COL11A1 COL18A1 COL1A1 COL1A2 COL25A1 COL2A1 COL3A1 COL5A1 COL5A2 COL7A1 COLQ COMT COQ2 COQ4 COQ7 COQ9 COX1 COX10 COX14 COX15 COX16 COX2 COX3 COX5A COX6B1 COX7B CPE CPLANE1 CPLX1 CPT1A CPT2 CRB2 CREBBP CRELD1 CRKL CRYAB CSGALNACT1 CSNK2A1 CSPP1 CSRP3 CTBP1 CTCF CTLA4 CTNNA3 CTU2 CUL3 CWC27 CXCR4 CYP27A1 CYTB D2HGDH DACT1 DAXX DCAF8 DCHS1 DDX11 DDX3X DDX59 DDX6 DEF6 DES DGCR2 DGCR6 DGCR8 DHCR7 DISP1 DLD DLK1 DLL1 DLL4 DMD DMPK DMXL2 DNAAF1 DNAAF11 DNAAF2 DNAAF3 DNAAF4 DNAAF5 DNAAF6 DNAH1 DNAH11 DNAH5 DNAH9 DNAI1 DNAI2 DNAJB11 DNAJB13 DNAJC19 DNAJC21 DNAJC30 DNAL1 DNASE1 DNASE1L3 DNMT3A DOCK6 DOHH DOLK DPF2 DPH1 DPH2 DPH5 DPM3 DRC1 DSC2 DSE DSG1 DSG2 DSP DST DTNA DVL3 DYNC2I1 DYNC2LI1 DYRK1A DYSF DZIP1 EBP ECE1 ECHS1 EDNRA EFEMP2 EFL1 EFTUD2 EGFR EHMT1 EIF2AK3 EIF2AK4 EIF4H ELAC2 ELN EMD ENPP1 EOGT EP300 EPB42 EPCAM EPG5 EPHB4 ERAP1 ERBB3 ERCC2 ERCC3 ERCC4 ERCC6 ERCC8 ERGIC1 ERMARD ESCO2 ESPN ESS2 EVC EVC2 EXOC2 EXOC6B EXT2 EXTL3 EYA4 FADD FAH FAM149B1 FAN1 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM FAS FASTKD2 FAT4 FBLN5 FBN1 FBN2 FBXL4 FBXW11 FCGR2A FCGR2B FDFT1 FGF13 FGF8 FGFR1 FGFR2 FGFR3 FGFRL1 FHL1 FHL2 FHOD3 FIBP FIG4 FKBP6 FKRP FKTN FLAD1 FLCN FLI1 FLNA FLNB FLNC FLT4 FMN2 FMR1 FNIP1 FOCAD FOS FOXC1 FOXC2 FOXE3 FOXF1 FOXH1 FOXJ1 FOXP1 FOXRED1 FRAS1 FREM1 FRMD5 FTCD FTO FUCA1 FUT8 FXN G6PC3 GAA GABRD GALNS GANAB GAS1 GAS2L2 GAS8 GATA1 GATA3 GATA4 GATA5 GATA6 GATAD1 GATB GATC GBA1 GBE1 GCK GDF1 GDF3 GDF6 GJA1 GJA5 GJA8 GLA GLB1 GLI1 GLI2 GLI3 GLRX5 GMPPB GNAO1 GNB2 GNB5 GNE GNPTAB GNS GP1BB GPC3 GPC4 GPC6 GPR101 GPX4 GRB10 GRIN1 GRM7 GSN GTF2E2 GTF2H5 GTF2I GTF2IRD1 GTF2IRD2 GTPBP3 GUSB GYG1 GYS1 H19-ICR H3-3A H3-3B H4C3 H4C9 HAAO HACD1 HADH HADHA HADHB HAMP HAND2 HBA1 HBA2 HBB HCCS HCN4 HDAC4 HDAC8 HEATR3 HES7 HEXB HEY2 HFE HGD HGSNAT HIBCH HIRA HJV HLA-B HLA-DPA1 HLA-DPB1 HLA-DRB1 HMGCL HNRNPA1 HNRNPA2B1 HNRNPH2 HNRNPK HNRNPR HNRNPU HOXA13 HOXD13 HPS1 HRAS HSD11B2 HSD17B10 HSPA9 HSPG2 HYDIN HYLS1 HYMAI IDH1 IDH2 IDS IDUA IFIH1 IFNG IFNGR1 IFT122 IFT140 IFT172 IFT81 IGBP1 IGF1R IGF2 IKZF1 IL10 IL12A IL12A-AS1 IL12B IL17F IL17RA IL17RC IL23R IL6 INPP5E INS INSR INTS1 INTU INVS IPO8 IRAK1 IRF4 IRF6 IRX5 ITGA7 ITK ITPA JAG1 JAG2 JAM3 JMJD1C JPH2 JUP KANSL1 KAT5 KAT6A KAT6B KAT8 KATNB1 KATNIP KBTBD13 KCNA1 KCNAB2 KCNE5 KCNH1 KCNJ11 KCNJ2 KCNJ5 KCNJ8 KCNQ1 KCNQ1OT1 KDM1A KDM3B KDM5B KDM6A KDR KIAA0586 KIAA0753 KIF11 KIF15 KIF20A KIF3B KIF7 KLF1 KLHL41 KLRC4 KMT2C KMT2D KRAS KYNU LACC1 LAMA2 LAMA3 LAMA4 LAMA5 LAMB2 LAMB3 LAMC2 LAMP2 LARP7 LARS2 LBR LDB3 LDLR LDLRAP1 LEMD2 LEMD3 LETM1 LIAS LIMK1 LIMS2 LIPT1 LMBRD1 LMNA LMNB1 LMOD1 LMOD2 LONP1 LOX LRP12 LRP2 LRP5 LRPPRC LRRC56 LSM11 LTBP1 LTBP2 LTBP3 LTBP4 LUZP1 LYST LZTFL1 LZTR1 MACF1 MAD2L2 MAF MAGEL2 MAP1B MAP2K1 MAP2K2 MAP3K20 MAP3K7 MAPK1 MAPKAPK5 MASP1 MAT2A MC2R MCIDAS MCM10 MCTP2 MED12 MED13L MED23 MED25 MEFV MEG3 MEGF8 MEIS2 MEN1 MEOX1 METTL27 METTL5 MFAP5 MGAT2 MGME1 MGP MIB1 MICOS13 MICU1 MID1 MIF MIPEP MIR17HG MKKS MKS1 MLH1 MLH3 MLX MLXIPL MLYCD MMACHC MMP1 MMP14 MMP2 MMP21 MMP23B MMUT MNS1 MOGS MPL MPLKIP MRAP MRAS MRPL3 MRPL44 MRPS14 MRPS22 MSH2 MSH6 MSX1 MTFMT MTO1 MTTP MTX2 MYBPC3 MYCN MYH11 MYH3 MYH6 MYH7 MYH8 MYL2 MYL3 MYLK MYLK2 MYMK MYO18B MYOCD MYOT MYOZ2 MYPN MYRF MYSM1 NAA10 NAA20 NADSYN1 NAGA NAGLU NAXD NBAS NCAPG2 NCF1 ND1 ND2 ND3 ND4 ND5 ND6 NDE1 NDUFA1 NDUFA10 NDUFA11 NDUFA12 NDUFA13 NDUFA2 NDUFA4 NDUFA6 NDUFA9 NDUFAF1 NDUFAF2 NDUFAF3 NDUFAF4 NDUFAF5 NDUFAF6 NDUFAF8 NDUFB10 NDUFB11 NDUFB3 NDUFB7 NDUFB8 NDUFB9 NDUFC2 NDUFS1 NDUFS2 NDUFS3 NDUFS4 NDUFS6 NDUFS7 NDUFS8 NDUFV1 NDUFV2 NEB NECTIN1 NEDD4L NEK1 NEK10 NEK8 NEK9 NELFA NEU1 NEUROD2 NEXN NF1 NFE2L2 NFIX NFS1 NHLRC2 NIPA1 NIPA2 NIPBL NKAP NKX2-1 NKX2-5 NKX2-6 NME8 NNT NOD2 NODAL NONO NOTCH1 NOTCH2 NOTCH3 NPHP3 NPPA NPR3 NR2F2 NRAS NSD1 NSD2 NSDHL NSMCE2 NUBPL NUP107 NUP155 NUP188 NXN OCLN ODAD1 ODAD2 ODAD3 ODAD4 OFD1 OGT OPA1 OTUD5 OTUD6B OTX2 P4HA2 PACS1 PACS2 PAH PAK2 PALB2 PAM16 PARS2 PAX3 PBX1 PCCA PCCB PCGF2 PCNT PCSK9 PDE11A PDE6D PDE8B PDGFRA PDHA1 PDPN PDSS2 PDX1 PET100 PEX1 PEX10 PEX11B PEX12 PEX13 PEX14 PEX16 PEX19 PEX2 PEX26 PEX3 PEX5 PEX6 PEX7 PGAP1 PGM1 PHGDH PHKA2 PHKG2 PHYH PI4KA PIBF1 PIEZO1 PIEZO2 PIGA PIGF PIGG PIGL PIGN PIGO PIGP PIGQ PIGS PIGT PIGV PIK3CA PIK3R2 PKD1 PKD1L1 PKD2 PKDCC PKP2 PLAGL1 PLCH1 PLD1 PLN PLOD1 PLVAP PLXND1 PMM2 PMS1 PMS2 PNKP PNPLA2 POGZ POLA1 POLG POLG2 POLR1A POLR3A POMGNT1 POMK POMT1 POMT2 POR PORCN PPA2 PPARG PPCS PPFIBP1 PPM1D PPP1CB PPP1R21 PPP2CA PPP2R5D PQBP1 PRDM13 PRDM16 PRDM5 PRG4 PRIM1 PRKACA PRKACB PRKAG2 PRKAR1A PRKCZ PRKG1 PRR12 PRRX1 PRTN3 PRUNE1 PSEN1 PSEN2 PSMB8 PSMC1 PSMD12 PTCH1 PTCH2 PTEN PTF1A PTPN11 PTPN14 PTPN22 PUF60 PURA PYGL PYGM QRICH1 QRSL1 RAB23 RAB3GAP2 RAC1 RAD21 RAD51 RAD51C RAF1 RAI1 RARB RASA1 RASA2 RBCK1 RBM10 RBM20 RBM8A RBPJ RECQL4 RELN RERE RFC2 RFWD3 RIPK4 RIT1 RLIM RMND1 RMRP RNASEH1 RNASEH2A RNASEH2B RNASEH2C RNF113A RNF135 RNF220 RNU4ATAC RNU7-1 ROBO4 ROR2 RPGR RPGRIP1 RPGRIP1L RPL10 RPL11 RPL15 RPL18 RPL26 RPL27 RPL31 RPL35 RPL35A RPL3L RPL5 RPS10 RPS15A RPS17 RPS19 RPS20 RPS24 RPS26 RPS27 RPS28 RPS29 RPS6KA3 RPS7 RRAS RRAS2 RREB1 RRM2B RSPH1 RSPH3 RSPH4A RSPH9 RSPO2 RSPRY1 RTL1 RYR1 RYR2 SAA1 SACS SALL1 SALL4 SAMHD1 SARDH SATB1 SATB2 SBDS SCARB2 SCN1B SCN2A SCN5A SCO1 SCO2 SCUBE3 SCYL2 SDHA SDHAF1 SDHB SDHD SEC24C SEC31A SELENON SEMA3E SEMA4A SERPINE1 SETBP1 SETD1A SETD2 SETD5 SF3B2 SF3B4 SFTPB SGCA SGCB SGCD SGCG SGO1 SGSH SH2B1 SH3PXD2B SHANK3 SHH SHMT2 SHOC2 SIAH1 SIK1 SIK3 SIN3A SIX3 SIX6 SKI SKIC2 SKIC3 SLC12A2 SLC12A3 SLC17A5 SLC19A2 SLC19A3 SLC1A3 SLC22A5 SLC25A12 SLC25A20 SLC25A22 SLC25A24 SLC25A3 SLC25A4 SLC29A3 SLC2A10 SLC30A10 SLC34A2 SLC35A2 SLC37A4 SLC38A3 SLC40A1 SLC4A1 SLC5A6 SLC6A6 SLC7A7 SLX4 SMAD2 SMAD3 SMAD4 SMAD6 SMARCA2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMC1A SMC3 SMG8 SMG9 SMN1 SMPD1 SMPX SNIP1 SNRPB SNRPN SNX10 SNX14 SON SOS1 SOS2 SOX11 SOX2 SOX4 SOX6 SOX9 SP110 SPAG1 SPATA5 SPECC1L SPEF2 SPEG SPEN SPOP SPP1 SPRED1 SPRED2 SPTA1 SPTB SPTBN1 SRCAP SREBF1 SRP54 SRY STAG1 STAG2 STAMBP STAR STAT1 STAT2 STAT3 STAT4 STIL STK36 STK4 STRA6 STRADA STX1A SUCLG1 SUFU SUPT16H SURF1 SVBP SVIL SYNE1 SYNE2 SYT1 SYT2 TAB2 TACO1 TAF1A TAF2 TAFAZZIN TALDO1 TANGO2 TAOK1 TAPT1 TARS1 TASP1 TBC1D24 TBCK TBL2 TBX1 TBX2 TBX20 TBX22 TBX3 TBX4 TBX5 TCAP TCIRG1 TCOF1 TCTN1 TCTN2 TCTN3 TDGF1 TERT TET3 TFAP2B TFR2 TGDS TGFB1 TGFB2 TGFB3 TGFBR1 TGFBR2 TGIF1 THOC6 THPO THSD4 TIAM1 TIMMDC1 TK2 TKFC TKT TLL1 TLR4 TMCO1 TMEM107 TMEM126A TMEM126B TMEM147 TMEM216 TMEM218 TMEM231 TMEM237 TMEM260 TMEM270 TMEM43 TMEM53 TMEM67 TMEM70 TMEM94 TMPO TMTC3 TNFRSF11A TNFRSF1A TNFSF11 TNNC1 TNNI3 TNNI3K TNNT2 TNXB TOGARAM1 TOM1 TOP3A TOPORS TP63 TPI1 TPK1 TPM1 TPM2 TPM3 TRAF3IP2 TRAF7 TRAIP TRAPPC11 TRDN TREX1 TRIM37 TRIM8 TRIO TRIP13 TRIP4 TRMT10C TRMT5 TRNC TRNE TRNF TRNH TRNK TRNL1 TRNN TRNQ TRNS1 TRNS2 TRNT TRNT1 TRNV TRNW TRRAP TSC1 TSC2 TSFM TSR2 TTC12 TTC26 TTC7A TTC8 TTN TTPA TTR TUBG1 TULP3 TWIST1 TWNK TXNDC15 TXNL4A TXNRD2 UBAC2 UBE2A UBE2T UBE3B UBE4B UBR1 UBR7 UCP2 UFD1 UMPS UPF3B UQCRC2 UQCRFS1 USP18 USP9X VAC14 VARS2 VCL VCP VHL VIPAS39 VPS13A VPS13B VPS33A VPS33B VPS35L VPS37D VWF WAC WARS2 WASHC5 WBP11 WDPCP WDR26 WDR35 WDR37 WFS1 WLS WNT4 WT1 XK XRCC2 XRCC4 XYLT1 XYLT2 YARS1 YARS2 YY1 YY1AP1 ZBTB7A ZDHHC9 ZEB2 ZFP57 ZFPM2 ZIC2 ZIC3 ZMPSTE24 ZMYM2 ZMYND10 ZNF423 ZNF462 ZNF469 ZNF687 ZNF699

Diseases (1533) :OMIM:614096 ORPHA:31150 OMIM:205400 OMIM:614473 ORPHA:51608 ORPHA:758 OMIM:177850 OMIM:264800 ORPHA:276575 ORPHA:99885 ORPHA:99886 OMIM:608569 ORPHA:154 OMIM:239850 ORPHA:1517 OMIM:614857 ORPHA:391665 ORPHA:98907 OMIM:617602 ORPHA:79159 OMIM:611283 ORPHA:99901 OMIM:611126 ORPHA:42 OMIM:201470 ORPHA:26792 ORPHA:26793 OMIM:201475 ORPHA:86818 ORPHA:171439 ORPHA:2020 OMIM:255310 OMIM:161800 ORPHA:91387 OMIM:613834 OMIM:243310 OMIM:612794 ORPHA:99103 OMIM:613424 OMIM:612098 ORPHA:2241 OMIM:612158 OMIM:618654 OMIM:613751 ORPHA:124 OMIM:182410 OMIM:615688 ORPHA:294023 ORPHA:3449 OMIM:277600 OMIM:620067 ORPHA:2136 ORPHA:51 ORPHA:363528 OMIM:619647 OMIM:606703 ORPHA:324588 OMIM:619651 OMIM:614300 OMIM:615873 ORPHA:363549 ORPHA:536532 OMIM:618000 OMIM:616368 ORPHA:444077 ORPHA:90308 ORPHA:1369 OMIM:212350 OMIM:232400 OMIM:619149 ORPHA:528 OMIM:608594 OMIM:613752 ORPHA:88618 ORPHA:475 OMIM:608629 ORPHA:220493 ORPHA:963 OMIM:102200 ORPHA:99725 ORPHA:83473 ORPHA:90348 OMIM:620025 ORPHA:79327 OMIM:608540 ORPHA:79324 OMIM:607143 ORPHA:79321 ORPHA:730 OMIM:608104 ORPHA:79328 OMIM:608776 OMIM:263210 OMIM:618504 ORPHA:64 OMIM:203800 OMIM:618052 ORPHA:306542 OMIM:136760 OMIM:300373 OMIM:300990 OMIM:619699 ORPHA:251066 ORPHA:822 ORPHA:261250 ORPHA:2332 OMIM:615382 ORPHA:206549 ORPHA:821 OMIM:617164 ORPHA:98892 ORPHA:974 OMIM:100300 ORPHA:1465 OMIM:135900 OMIM:617808 OMIM:615434 OMIM:209900 OMIM:253200 OMIM:619698 ORPHA:79345 ORPHA:567 ORPHA:1934 ORPHA:452 OMIM:616867 OMIM:605039 ORPHA:97297 OMIM:617190 OMIM:617183 ORPHA:496790 OMIM:618810 OMIM:608688 OMIM:618494 OMIM:265400 ORPHA:2131 OMIM:619910 OMIM:618120 OMIM:614053 OMIM:618683 ORPHA:255210 ORPHA:320360 ORPHA:93952 OMIM:278250 ORPHA:2834 OMIM:617403 ORPHA:79500 OMIM:617402 OMIM:301040 ORPHA:100075 ORPHA:352490 ORPHA:314652 ORPHA:536467 ORPHA:93359 OMIM:271640 OMIM:245600 ORPHA:709 OMIM:261540 ORPHA:564 OMIM:613881 OMIM:612954 OMIM:619747 OMIM:614008 OMIM:619762 ORPHA:904 OMIM:615981 OMIM:619641 OMIM:309800 OMIM:300166 ORPHA:2712 ORPHA:261330 OMIM:124000 OMIM:619325 ORPHA:169186 OMIM:617822 ORPHA:261295 OMIM:235200 OMIM:617877 ORPHA:465508 ORPHA:440437 ORPHA:79076 OMIM:178600 OMIM:614299 ORPHA:1340 OMIM:115150 OMIM:613707 OMIM:163950 OMIM:613706 ORPHA:500 ORPHA:84 ORPHA:280679 ORPHA:199 ORPHA:444072 OMIM:616202 OMIM:269700 OMIM:300755 ORPHA:1052 OMIM:257300 OMIM:617713 ORPHA:434179 OMIM:615948 ORPHA:117 OMIM:601005 OMIM:615474 ORPHA:369929 ORPHA:423 OMIM:618773 OMIM:616249 OMIM:618782 OMIM:617798 ORPHA:1425 OMIM:619318 OMIM:618891 ORPHA:33364 OMIM:604772 ORPHA:1606 OMIM:192600 ORPHA:648 OMIM:613563 OMIM:236200 OMIM:235510 OMIM:614679 ORPHA:244 OMIM:616816 ORPHA:7 OMIM:300963 OMIM:619123 OMIM:613807 OMIM:613808 ORPHA:892 ORPHA:140952 OMIM:300707 OMIM:211750 ORPHA:487796 OMIM:616737 OMIM:619841 OMIM:617063 OMIM:618929 OMIM:618920 ORPHA:91347 OMIM:617694 OMIM:617360 OMIM:618748 OMIM:130650 ORPHA:93925 ORPHA:93924 ORPHA:280200 ORPHA:93926 ORPHA:220386 OMIM:616051 OMIM:611134 OMIM:614114 OMIM:615500 OMIM:618063 OMIM:619608 OMIM:619607 OMIM:614779 OMIM:605376 OMIM:219700 OMIM:617159 OMIM:214800 ORPHA:138 OMIM:602541 OMIM:614961 ORPHA:2970 OMIM:100100 OMIM:253290 ORPHA:2990 OMIM:601776 ORPHA:2953 OMIM:143095 OMIM:613630 OMIM:619702 ORPHA:3463 OMIM:614433 ORPHA:99105 ORPHA:3303 OMIM:614431 ORPHA:3255 OMIM:272440 OMIM:619512 ORPHA:667 ORPHA:358 ORPHA:1334 OMIM:300886 ORPHA:324410 OMIM:204200 ORPHA:228346 ORPHA:445038 OMIM:616500 OMIM:616501 ORPHA:436271 ORPHA:263508 OMIM:611209 OMIM:614576 ORPHA:79333 OMIM:608779 OMIM:228520 ORPHA:1571 ORPHA:287 OMIM:619115 OMIM:166200 ORPHA:230851 OMIM:225320 ORPHA:1143 ORPHA:90653 OMIM:108300 OMIM:130050 ORPHA:286 OMIM:130000 ORPHA:89842 ORPHA:79408 ORPHA:98915 OMIM:607426 ORPHA:255249 OMIM:616276 OMIM:616733 OMIM:614654 ORPHA:550 OMIM:540000 OMIM:619046 OMIM:619053 ORPHA:255241 OMIM:615119 OMIM:619355 OMIM:619064 OMIM:619051 OMIM:300887 ORPHA:2556 OMIM:309801 OMIM:619326 ORPHA:2754 OMIM:277170 OMIM:194190 ORPHA:280 ORPHA:156 OMIM:255120 ORPHA:228308 ORPHA:228305 OMIM:600649 OMIM:608836 OMIM:219730 OMIM:180849 ORPHA:353281 ORPHA:353277 OMIM:606217 ORPHA:399058 OMIM:615184 OMIM:608810 OMIM:618870 OMIM:617062 OMIM:607482 OMIM:612124 ORPHA:363611 OMIM:615502 ORPHA:900 OMIM:152700 OMIM:615616 OMIM:618142 OMIM:619239 ORPHA:166035 OMIM:250410 ORPHA:51636 ORPHA:909 ORPHA:137675 OMIM:600721 ORPHA:857 OMIM:610100 ORPHA:314679 OMIM:607829 OMIM:613398 OMIM:300958 ORPHA:2919 OMIM:174300 OMIM:618653 OMIM:619573 OMIM:604765 ORPHA:98909 OMIM:601419 OMIM:192430 OMIM:270400 ORPHA:818 OMIM:246900 ORPHA:2394 ORPHA:254534 ORPHA:96334 ORPHA:254525 OMIM:616589 OMIM:302045 ORPHA:98896 OMIM:310200 OMIM:300376 ORPHA:206546 ORPHA:589821 OMIM:613193 OMIM:614935 OMIM:612518 OMIM:606763 OMIM:615482 OMIM:614874 OMIM:300991 OMIM:617577 OMIM:611884 OMIM:608644 OMIM:618300 OMIM:244400 OMIM:612444 OMIM:610198 ORPHA:66634 ORPHA:811 OMIM:260400 OMIM:614017 ORPHA:36412 ORPHA:404443 OMIM:615879 OMIM:620066 OMIM:610768 ORPHA:91131 OMIM:618027 ORPHA:459061 OMIM:616901 OMIM:620062 OMIM:620070 ORPHA:263494 OMIM:612937 OMIM:610476 OMIM:615539 OMIM:615508 OMIM:610193 OMIM:612877 OMIM:607450 OMIM:605676 OMIM:615821 ORPHA:65282 ORPHA:158687 OMIM:614653 OMIM:604169 OMIM:616894 OMIM:615503 ORPHA:289 OMIM:617088 ORPHA:268261 ORPHA:464311 ORPHA:268 OMIM:610840 ORPHA:401973 OMIM:613870 OMIM:616277 OMIM:616367 ORPHA:90349 OMIM:610536 ORPHA:79113 OMIM:610253 ORPHA:96147 ORPHA:261652 ORPHA:1667 ORPHA:199241 OMIM:615440 OMIM:123700 OMIM:194050 ORPHA:98863 OMIM:208000 OMIM:615297 ORPHA:353284 ORPHA:144 ORPHA:1493 OMIM:242840 ORPHA:137667 OMIM:617300 OMIM:607598 OMIM:615272 ORPHA:90324 OMIM:268300 OMIM:618632 OMIM:225500 OMIM:619306 OMIM:616682 ORPHA:466926 ORPHA:508533 OMIM:605362 ORPHA:217622 ORPHA:306550 OMIM:613759 OMIM:276700 OMIM:227650 OMIM:300514 OMIM:314390 OMIM:227645 OMIM:227646 OMIM:600901 OMIM:603467 OMIM:609053 OMIM:618855 OMIM:616006 OMIM:614185 OMIM:616914 OMIM:154700 OMIM:604308 ORPHA:284979 ORPHA:2462 OMIM:184900 OMIM:608328 ORPHA:115 OMIM:121050 OMIM:615471 OMIM:618914 OMIM:618156 OMIM:301058 OMIM:613001 ORPHA:2396 OMIM:207410 OMIM:101200 OMIM:101400 ORPHA:1860 ORPHA:93274 OMIM:300718 OMIM:300696 OMIM:300280 OMIM:619402 ORPHA:500095 OMIM:617107 ORPHA:3472 OMIM:216340 ORPHA:370959 ORPHA:34515 OMIM:613153 OMIM:607155 OMIM:611615 ORPHA:272 OMIM:253800 OMIM:255100 OMIM:610883 ORPHA:2308 OMIM:314400 ORPHA:555877 ORPHA:1826 OMIM:305620 OMIM:300049 ORPHA:2484 OMIM:309350 ORPHA:99811 ORPHA:90652 ORPHA:88630 OMIM:150250 OMIM:617047 ORPHA:63273 ORPHA:75249 OMIM:614065 OMIM:618780 OMIM:616193 OMIM:300624 ORPHA:908 ORPHA:449291 OMIM:619705 OMIM:619991 OMIM:602482 OMIM:153400 OMIM:265380 ORPHA:210122 ORPHA:391372 ORPHA:2609 OMIM:618241 OMIM:219000 OMIM:608980 OMIM:620094 ORPHA:51208 OMIM:612938 OMIM:230000 ORPHA:349 OMIM:618005 ORPHA:95 OMIM:229300 OMIM:612541 ORPHA:308552 OMIM:232300 OMIM:253000 OMIM:190685 ORPHA:2237 ORPHA:251071 OMIM:607941 OMIM:614430 OMIM:615542 OMIM:187500 OMIM:614429 OMIM:617912 ORPHA:402075 OMIM:614475 OMIM:614474 OMIM:217095 OMIM:600001 ORPHA:2255 OMIM:614672 OMIM:618838 OMIM:618839 ORPHA:77259 ORPHA:77261 OMIM:608013 OMIM:231005 ORPHA:2072 OMIM:232500 OMIM:613854 OMIM:208530 ORPHA:2345 OMIM:600309 ORPHA:2248 OMIM:241550 OMIM:164200 ORPHA:2710 OMIM:108770 OMIM:612474 ORPHA:324 OMIM:301500 ORPHA:79255 OMIM:230500 OMIM:175700 ORPHA:672 OMIM:146510 ORPHA:401866 ORPHA:363623 OMIM:615352 OMIM:619503 ORPHA:542306 OMIM:617182 ORPHA:602 OMIM:252500 ORPHA:576 OMIM:252940 ORPHA:373 OMIM:312870 OMIM:258315 OMIM:300942 ORPHA:93317 OMIM:250220 ORPHA:96182 ORPHA:85448 OMIM:105120 ORPHA:444013 OMIM:616198 OMIM:253220 ORPHA:263297 OMIM:613507 OMIM:611556 OMIM:619720 OMIM:619721 OMIM:619758 OMIM:619951 OMIM:617660 OMIM:619967 OMIM:231530 ORPHA:71212 ORPHA:5 OMIM:609016 ORPHA:746 OMIM:609015 ORPHA:79230 OMIM:613313 ORPHA:163596 ORPHA:231214 ORPHA:231226 OMIM:603903 OMIM:163800 OMIM:600430 OMIM:620072 OMIM:613686 OMIM:268800 ORPHA:309155 OMIM:203500 ORPHA:56 OMIM:252930 OMIM:250620 ORPHA:88639 OMIM:602390 ORPHA:397 ORPHA:29207 ORPHA:36426 ORPHA:3287 OMIM:181000 ORPHA:85414 ORPHA:20 ORPHA:52430 OMIM:300986 ORPHA:352665 ORPHA:453504 OMIM:620073 ORPHA:238769 ORPHA:2438 ORPHA:887 OMIM:203300 OMIM:218040 ORPHA:3071 ORPHA:320 ORPHA:391428 ORPHA:391457 OMIM:300438 OMIM:616854 ORPHA:1865 OMIM:236680 ORPHA:96191 ORPHA:99646 OMIM:613657 ORPHA:217093 ORPHA:217085 OMIM:309900 OMIM:607014 ORPHA:93473 ORPHA:93476 OMIM:615846 OMIM:182250 ORPHA:805 OMIM:613254 OMIM:218330 OMIM:619471 OMIM:615630 OMIM:617895 ORPHA:52055 OMIM:300472 OMIM:270450 ORPHA:508 ORPHA:769 OMIM:618571 OMIM:617926 OMIM:617925 OMIM:602088 OMIM:619472 ORPHA:93552 ORPHA:3452 ORPHA:199302 OMIM:611174 OMIM:613011 OMIM:616647 OMIM:118450 OMIM:617992 OMIM:619566 OMIM:613730 OMIM:619492 OMIM:613873 OMIM:611528 OMIM:601214 ORPHA:34217 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:619103 OMIM:616268 ORPHA:457193 ORPHA:3047 OMIM:606170 ORPHA:85201 OMIM:603736 OMIM:618974 ORPHA:89844 OMIM:611816 OMIM:135500 ORPHA:276580 ORPHA:37553 ORPHA:251274 ORPHA:477993 OMIM:618846 OMIM:618109 ORPHA:2322 OMIM:147920 OMIM:300867 OMIM:616546 ORPHA:2526 ORPHA:261323 OMIM:619433 OMIM:618955 OMIM:200990 OMIM:613673 OMIM:615278 OMIM:609942 OMIM:600268 OMIM:617661 ORPHA:258 ORPHA:79404 OMIM:615235 OMIM:620076 OMIM:300257 ORPHA:34587 ORPHA:319671 OMIM:617021 OMIM:169400 OMIM:601493 ORPHA:98912 OMIM:609452 OMIM:619322 ORPHA:166119 OMIM:620089 OMIM:614462 OMIM:616827 ORPHA:79284 OMIM:277380 ORPHA:79474 ORPHA:98853 ORPHA:98855 ORPHA:280365 OMIM:115200 ORPHA:2229 OMIM:181350 ORPHA:300751 ORPHA:2348 OMIM:610140 ORPHA:168796 ORPHA:740 ORPHA:363618 OMIM:212112 ORPHA:1662 OMIM:619179 OMIM:619897 OMIM:600373 ORPHA:1458 ORPHA:79243 OMIM:617168 OMIM:164310 OMIM:222448 ORPHA:2143 OMIM:259770 ORPHA:70472 OMIM:618254 OMIM:601216 OMIM:613177 ORPHA:167 OMIM:615994 OMIM:616564 OMIM:605275 OMIM:618325 ORPHA:1272 OMIM:601088 ORPHA:398069 OMIM:615279 OMIM:615280 ORPHA:638 OMIM:157800 ORPHA:3238 OMIM:617137 OMIM:619087 OMIM:619869 OMIM:257920 ORPHA:361 OMIM:619313 ORPHA:1596 ORPHA:93932 OMIM:301068 OMIM:309520 ORPHA:776 OMIM:305450 ORPHA:369891 OMIM:616789 OMIM:614249 OMIM:616449 ORPHA:464738 ORPHA:342 OMIM:249100 OMIM:608068 ORPHA:3243 OMIM:614976 ORPHA:261190 OMIM:600987 OMIM:214300 OMIM:618665 OMIM:616166 OMIM:212066 ORPHA:79329 OMIM:615084 ORPHA:352447 OMIM:245150 ORPHA:85202 OMIM:615092 OMIM:618329 OMIM:615673 ORPHA:2745 OMIM:300000 OMIM:617228 ORPHA:391646 ORPHA:2473 OMIM:249000 OMIM:248360 ORPHA:79282 ORPHA:371428 OMIM:259600 OMIM:616749 OMIM:251000 ORPHA:79312 OMIM:618948 ORPHA:79330 ORPHA:3319 OMIM:234050 OMIM:618499 OMIM:614582 OMIM:615395 OMIM:618378 OMIM:611719 OMIM:614947 OMIM:614702 ORPHA:14 OMIM:619127 OMIM:115197 OMIM:615396 OMIM:164280 ORPHA:391641 OMIM:132900 ORPHA:229 OMIM:614089 OMIM:613252 OMIM:613251 OMIM:613426 ORPHA:324604 ORPHA:1880 ORPHA:59135 ORPHA:437572 OMIM:160500 OMIM:255160 OMIM:608837 OMIM:608758 OMIM:619424 OMIM:608751 OMIM:254940 OMIM:616549 OMIM:618719 ORPHA:98911 OMIM:609200 OMIM:613838 ORPHA:171881 OMIM:615248 OMIM:617336 OMIM:618280 ORPHA:508542 OMIM:300855 ORPHA:276432 OMIM:619717 OMIM:618845 ORPHA:79279 ORPHA:79280 ORPHA:79281 OMIM:252920 OMIM:618321 OMIM:616483 OMIM:618460 ORPHA:2177 OMIM:618243 OMIM:618236 OMIM:618235 OMIM:618234 ORPHA:70474 OMIM:618237 OMIM:619003 OMIM:300952 OMIM:620135 OMIM:619170 OMIM:618228 OMIM:252010 OMIM:618222 OMIM:618229 ORPHA:399103 ORPHA:2751 OMIM:263520 OMIM:615415 OMIM:614262 OMIM:617022 ORPHA:93400 ORPHA:93399 OMIM:256550 OMIM:613122 OMIM:613876 ORPHA:97685 ORPHA:363700 OMIM:601321 OMIM:617744 ORPHA:447980 OMIM:602535 OMIM:619386 OMIM:618278 ORPHA:261183 OMIM:122470 OMIM:301039 ORPHA:209905 OMIM:610978 OMIM:108900 ORPHA:1479 OMIM:614435 OMIM:614432 ORPHA:3384 ORPHA:90340 OMIM:186580 OMIM:617321 OMIM:270100 ORPHA:466791 OMIM:300967 OMIM:616028 OMIM:109730 OMIM:610205 OMIM:102500 ORPHA:955 OMIM:130720 ORPHA:2789 OMIM:267010 OMIM:208540 OMIM:612201 ORPHA:1344 OMIM:615745 OMIM:619543 OMIM:618901 OMIM:615779 OMIM:613224 OMIM:117550 OMIM:308050 OMIM:617253 OMIM:618348 OMIM:616730 OMIM:615770 OMIM:618804 ORPHA:1507 OMIM:618529 OMIM:251290 OMIM:615067 OMIM:615451 OMIM:616037 OMIM:617092 OMIM:311200 OMIM:300997 ORPHA:1215 OMIM:616896 OMIM:301056 ORPHA:505237 OMIM:617452 ORPHA:990 ORPHA:329224 OMIM:615009 OMIM:618067 ORPHA:2209 OMIM:610832 OMIM:613320 OMIM:618437 ORPHA:896 OMIM:617641 OMIM:606054 ORPHA:35 OMIM:618371 ORPHA:2637 ORPHA:1359 ORPHA:189439 OMIM:607685 ORPHA:772 OMIM:214100 ORPHA:912 OMIM:614876 OMIM:614886 OMIM:614866 OMIM:214110 OMIM:614879 OMIM:266500 ORPHA:773 OMIM:615802 OMIM:614921 OMIM:256520 ORPHA:264580 ORPHA:436252 OMIM:616843 ORPHA:2461 OMIM:248700 OMIM:300868 OMIM:619356 ORPHA:3474 OMIM:280000 ORPHA:2059 ORPHA:280633 OMIM:614080 OMIM:614749 OMIM:618143 ORPHA:369837 OMIM:615398 OMIM:239300 OMIM:602501 OMIM:603387 OMIM:173900 OMIM:617205 OMIM:613095 OMIM:618821 OMIM:609040 OMIM:619895 OMIM:212093 OMIM:609909 OMIM:613874 ORPHA:1900 OMIM:618183 OMIM:212065 ORPHA:79318 OMIM:610717 ORPHA:98908 ORPHA:565612 OMIM:616364 ORPHA:468678 OMIM:301030 ORPHA:254892 ORPHA:254886 OMIM:258450 OMIM:607459 ORPHA:70595 ORPHA:1200 ORPHA:3455 OMIM:264090 OMIM:613155 OMIM:609308 ORPHA:86812 OMIM:613156 ORPHA:206559 ORPHA:2092 OMIM:617223 OMIM:617222 ORPHA:79083 OMIM:618189 OMIM:620024 OMIM:617450 ORPHA:2701 OMIM:617506 OMIM:619383 OMIM:618354 ORPHA:457279 ORPHA:93946 OMIM:309500 ORPHA:93947 OMIM:619909 OMIM:615373 ORPHA:90354 OMIM:208250 ORPHA:2848 OMIM:620005 OMIM:619142 OMIM:619143 OMIM:600858 OMIM:261740 OMIM:160980 ORPHA:615 OMIM:255960 OMIM:619539 OMIM:202650 ORPHA:544469 OMIM:613694 OMIM:613697 OMIM:256040 OMIM:620071 OMIM:617516 OMIM:109400 ORPHA:77301 OMIM:609069 OMIM:151100 OMIM:613611 ORPHA:508488 ORPHA:508498 OMIM:615583 ORPHA:314655 ORPHA:369 ORPHA:368 OMIM:617982 OMIM:618835 OMIM:201000 OMIM:212720 OMIM:617751 ORPHA:500159 OMIM:614701 OMIM:611376 OMIM:613390 OMIM:615916 OMIM:611554 OMIM:611553 ORPHA:477817 OMIM:182290 OMIM:615524 OMIM:615895 OMIM:311900 ORPHA:2886 OMIM:613172 OMIM:274000 ORPHA:3320 OMIM:218600 ORPHA:1225 OMIM:616975 ORPHA:494344 OMIM:263650 OMIM:615355 OMIM:300978 OMIM:614922 ORPHA:175 ORPHA:329336 ORPHA:137634 OMIM:619688 OMIM:210710 OMIM:616651 ORPHA:353298 OMIM:619487 OMIM:618496 OMIM:113000 OMIM:300998 ORPHA:459070 OMIM:612562 OMIM:615550 OMIM:614900 OMIM:617408 OMIM:612528 OMIM:619371 OMIM:612561 OMIM:612527 OMIM:105650 OMIM:613309 ORPHA:192 OMIM:618624 OMIM:618021 ORPHA:457395 ORPHA:597 OMIM:619542 OMIM:600996 OMIM:115000 ORPHA:85445 ORPHA:98 OMIM:107480 ORPHA:959 OMIM:607323 OMIM:147750 ORPHA:3129 OMIM:619229 ORPHA:251028 OMIM:615377 OMIM:614022 OMIM:601154 OMIM:619048 OMIM:604377 OMIM:619184 OMIM:613642 ORPHA:3208 OMIM:252011 OMIM:619259 OMIM:619167 OMIM:618651 ORPHA:465 OMIM:269150 ORPHA:798 OMIM:618832 ORPHA:404440 OMIM:164210 OMIM:154400 ORPHA:217563 OMIM:608099 ORPHA:119 OMIM:604286 OMIM:606685 OMIM:601287 ORPHA:353 OMIM:616201 OMIM:252900 ORPHA:261197 ORPHA:137834 OMIM:249420 OMIM:606232 OMIM:619121 OMIM:607721 OMIM:619314 OMIM:618162 ORPHA:94065 OMIM:157170 OMIM:206900 OMIM:182212 ORPHA:84064 OMIM:222470 OMIM:619083 OMIM:269920 ORPHA:49827 OMIM:249270 OMIM:212140 OMIM:612949 ORPHA:159 OMIM:212138 OMIM:612289 ORPHA:91130 OMIM:610773 OMIM:615418 OMIM:617184 ORPHA:1782 OMIM:602782 OMIM:208050 ORPHA:3342 ORPHA:309854 ORPHA:60025 OMIM:300896 ORPHA:356961 OMIM:619525 OMIM:619881 OMIM:606069 OMIM:619903 OMIM:145350 ORPHA:470 OMIM:619657 OMIM:619656 ORPHA:284984 OMIM:613795 OMIM:175050 ORPHA:2588 OMIM:139210 OMIM:614823 ORPHA:2728 OMIM:614609 OMIM:614608 OMIM:616938 OMIM:300590 OMIM:301044 OMIM:610759 OMIM:619268 OMIM:619995 OMIM:616920 OMIM:253300 ORPHA:77293 OMIM:301075 OMIM:614501 ORPHA:1393 OMIM:117650 ORPHA:177907 ORPHA:397709 ORPHA:500150 OMIM:617140 OMIM:610733 OMIM:616559 ORPHA:77298 OMIM:618506 OMIM:618971 OMIM:114290 OMIM:235550 OMIM:615505 ORPHA:457351 OMIM:145420 ORPHA:1519 OMIM:615959 OMIM:619312 OMIM:618829 ORPHA:137605 OMIM:619745 OMIM:619475 ORPHA:2044 OMIM:136140 OMIM:158310 ORPHA:1772 OMIM:617635 OMIM:301043 OMIM:301022 OMIM:614261 ORPHA:391487 OMIM:618886 OMIM:614868 OMIM:601186 OMIM:611087 ORPHA:500533 ORPHA:17 OMIM:617757 OMIM:619480 OMIM:220110 OMIM:618569 OMIM:619040 OMIM:612998 OMIM:612999 ORPHA:522077 OMIM:619461 OMIM:614980 ORPHA:228410 OMIM:615599 ORPHA:397951 OMIM:302060 ORPHA:111 OMIM:606003 ORPHA:101028 OMIM:616878 OMIM:619575 OMIM:616897 OMIM:618950 OMIM:220500 ORPHA:488632 ORPHA:1727 OMIM:188400 OMIM:618223 OMIM:611363 ORPHA:921 ORPHA:3138 OMIM:181450 ORPHA:261279 ORPHA:392 OMIM:142900 OMIM:607487 OMIM:154500 OMIM:613885 OMIM:614815 OMIM:613989 OMIM:618798 ORPHA:46627 OMIM:604250 ORPHA:1388 OMIM:616145 ORPHA:1328 OMIM:614816 OMIM:107970 OMIM:615582 OMIM:609192 OMIM:610168 OMIM:613680 ORPHA:363444 OMIM:619825 OMIM:619908 OMIM:618805 OMIM:617044 ORPHA:488618 OMIM:613087 ORPHA:99106 OMIM:213980 OMIM:612989 OMIM:618250 OMIM:620075 OMIM:619562 OMIM:617478 OMIM:604400 OMIM:619727 OMIM:614052 ORPHA:1194 OMIM:618316 ORPHA:32960 OMIM:611879 OMIM:613243 OMIM:613286 OMIM:611880 OMIM:613690 OMIM:115210 OMIM:616117 OMIM:601494 OMIM:115195 OMIM:612422 ORPHA:230839 OMIM:606408 OMIM:618097 OMIM:106260 ORPHA:868 OMIM:614458 OMIM:611878 OMIM:115196 OMIM:618164 OMIM:616777 ORPHA:369847 OMIM:225750 ORPHA:247691 OMIM:253250 OMIM:617061 ORPHA:476126 OMIM:616866 OMIM:616974 OMIM:616539 ORPHA:225 ORPHA:1349 ORPHA:254857 OMIM:616084 OMIM:618454 ORPHA:538 OMIM:191100 OMIM:610505 OMIM:619534 OMIM:243150 OMIM:615985 OMIM:604145 OMIM:613765 OMIM:611705 ORPHA:96 OMIM:105210 ORPHA:85451 ORPHA:85447 OMIM:619902 OMIM:609286 OMIM:619879 OMIM:608572 ORPHA:163956 OMIM:244450 OMIM:243800 ORPHA:2315 OMIM:619189 ORPHA:276556 OMIM:258900 OMIM:615160 OMIM:618775 OMIM:617397 OMIM:300968 ORPHA:480880 OMIM:615917 OMIM:611407 OMIM:613255 OMIM:613404 ORPHA:2388 OMIM:216550 ORPHA:193 ORPHA:505248 OMIM:617303 OMIM:208085 OMIM:619135 OMIM:193400 ORPHA:284169 OMIM:617710 ORPHA:572798 OMIM:220210 OMIM:619227 OMIM:217085 ORPHA:1338 ORPHA:513456 OMIM:613610 OMIM:618652 OMIM:222300 OMIM:619648 OMIM:611812 ORPHA:139466 ORPHA:3097 OMIM:608978 OMIM:300842 OMIM:616541 ORPHA:85194 OMIM:605822 OMIM:619418 OMIM:613561 OMIM:617557 ORPHA:506358 OMIM:602531 ORPHA:79094 OMIM:619769 OMIM:235730 ORPHA:261552 ORPHA:261537 OMIM:306955 OMIM:275210 OMIM:619522 OMIM:615444 OMIM:614844 OMIM:618619 OMIM:229200 OMIM:616833 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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