Human Phenotype Ontology

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Hello! Guest! Please Login or Register! Clinician Mode

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

Grandparent Node:
Abnormal heart valve morphology (HP:0001654)

Parent Node:
Abnormal aortic valve morphology (HP:0001646)

..Starting node
..Abnormal aortic valve cusp morphology (HP:0031567)

Term ID:

31567

Name:

Abnormal aortic valve cusp morphology

Synonym:

Definition:

Any structural anomaly of the aortic valve leaflets.

Comments:

Reference:

HP:0031567

Genes and Diseases:

Child Nodes:

........

Bicuspid aortic valve (HP:0001647)

................... HP:0031117 Purely bicuspid aortic valve
................... HP:0031118 Single raphe bicuspid aortic valve
................... HP:0031122 Two-raphe bicuspid aortic valve

........

Unicuspid aortic valve (HP:0012561)

........

Thickened aortic valve cusp (HP:0031568)

........

Absent aortic valve cusps (HP:0031569)

........

Quadricuspid aortic valve (HP:0031655)

Sister Nodes:

Aortic valve atresia (HP:0010883)

Aortic valve calcification (HP:0004380)

Aortic valve prolapse (HP:0025578)

Dysplastic aortic valve (HP:0005176)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		94
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1		72
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	ADAMTS19 CL E G H	171019	17111	OMIM:620067			1
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures		38
HP:0031567	HP:0031567	Abnormal aortic valve cusp 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:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2		97
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS		2
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1		101
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia		317
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations		7
HP:0031567	HP:0031567	Abnormal aortic valve cusp 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:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		291
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia		3
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		172
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		1361
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS		1361
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked		493
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia		493
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	FLNA CL E G H	2316	3754	OMIM:300049	Heterotopia, periventricular, X-linked dominant		493
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		23
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia		61
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5		10
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	GATA5 CL E G H	140628	15802	ORPHA:402075	Familial bicuspid aortic valve		10
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9		37
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0031567	HP:0031567	Abnormal aortic valve cusp 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		8
HP:0031567	HP:0031567	Abnormal aortic valve cusp 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		8
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia		93
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10		6
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		6
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2		11
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		13
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q		3
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		11
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum		2
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum		64
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4		418
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		418
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S		1269
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		326
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL		3
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1		23
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia		20
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	NKX2-5 CL E G H	1482	2488	ORPHA:402075	Familial bicuspid aortic valve		90
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1		452
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	NOTCH1 CL E G H	4851	7881	ORPHA:402075	Familial bicuspid aortic valve		452
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome		144
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2		2
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106		4
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome		24
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome		24
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold		22
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome		10
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		41
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom		3
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome		150
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	ROBO4 CL E G H	54538	17985	OMIM:618496	Aortic valve disease 3
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11		3
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	SGO1 CL E G H	151648	25088	OMIM:616201	Chronic atrial and intestinal dysrhythmia		2
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		7
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		260
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		504
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	SMAD6 CL E G H	4091	6772	OMIM:614823	Aortic valve disease 2		33
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	SMAD6 CL E G H	4091	6772	ORPHA:402075	Familial bicuspid aortic valve		33
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism		3
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis		23
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2		11
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40		7
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome		7
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		162
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		85
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		239
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		253
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12		2
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like		134
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion		20
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	YY1AP1 CL E G H	55249	30935	OMIM:602531	Grange syndrome		5
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0031567	HP:0031567	Abnormal aortic valve cusp morphology	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0031567	HP:0031569	Absent aortic valve cusps	1	CL E G H
HP:0031567	HP:0012561	Unicuspid aortic valve	1	CL E G H
HP:0031567	HP:0001647	Bicuspid aortic valve	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0031567	HP:0001647	Bicuspid aortic valve	1	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	94
HP:0031567	HP:0001647	Bicuspid aortic valve	1	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	.	72
HP:0031567	HP:0001647	Bicuspid aortic valve	1	ADA2 CL E G H	51816	1839	OMIM:182410	Sneddon syndrome		22
HP:0031567	HP:0001647	Bicuspid aortic valve	1	ADAMTS19 CL E G H	171019	17111	OMIM:620067			1
HP:0031567	HP:0001647	Bicuspid aortic valve	1	AGO2 CL E G H	27161	3263	OMIM:619149	LESSEL-KREIENKAMP SYNDROME; LESKRES
HP:0031567	HP:0001647	Bicuspid aortic valve	1	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1		147
HP:0031567	HP:0031568	Thickened aortic valve cusp	1	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0031567	HP:0001647	Bicuspid aortic valve	1	B3GALT6 CL E G H	126792	17978	OMIM:271640	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	.	38
HP:0031567	HP:0001647	Bicuspid aortic valve	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:0031567	HP:0001647	Bicuspid aortic valve	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0031567	HP:0001647	Bicuspid aortic valve	1	BBS2 CL E G H	583	967	OMIM:615981	Bardet-Biedl syndrome 2	HP:0040283 - Occasional	97
HP:0031567	HP:0001647	Bicuspid aortic valve	1	BCAS3 CL E G H	54828	14347	OMIM:619641	HENGEL-MAROOFIAN-SCHOLS SYNDROME; HEMARS		2
HP:0031567	HP:0001647	Bicuspid aortic valve	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0031567	HP:0001647	Bicuspid aortic valve	1	BCOR CL E G H	54880	20893	OMIM:309800	Microphthalmia, syndromic 1	.	101
HP:0031567	HP:0001647	Bicuspid aortic valve	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0031567	HP:0001647	Bicuspid aortic valve	1	CAPN15 CL E G H	6650	11182	OMIM:619318	OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME; OGIN
HP:0031567	HP:0001647	Bicuspid aortic valve	1	CBL CL E G H	867	1541	OMIM:613563	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	.	317
HP:0031567	HP:0001647	Bicuspid aortic valve	1	CCNQ CL E G H	92002	28434	OMIM:300707	Toe syndactyly, telecanthus, and anogenital and renal malformations	.	7
HP:0031567	HP:0001647	Bicuspid aortic valve	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:0031567	HP:0001647	Bicuspid aortic valve	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0031567	HP:0001647	Bicuspid aortic valve	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040284 - Very rare	291
HP:0031567	HP:0001647	Bicuspid aortic valve	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040284 - Very rare	291
HP:0031567	HP:0001647	Bicuspid aortic valve	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0031567	HP:0001647	Bicuspid aortic valve	1	DOHH CL E G H	83475	28662	OMIM:620066
HP:0031567	HP:0001647	Bicuspid aortic valve	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0031567	HP:0001647	Bicuspid aortic valve	1	EDNRA CL E G H	1909	3179	OMIM:616367	Mandibulofacial dysostosis with alopecia	HP:0040283 - Occasional	3
HP:0031567	HP:0001647	Bicuspid aortic valve	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0031567	HP:0001647	Bicuspid aortic valve	1	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	172
HP:0031567	HP:0001647	Bicuspid aortic valve	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0031567	HP:0001647	Bicuspid aortic valve	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome	.	172
HP:0031567	HP:0001647	Bicuspid aortic valve	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040284 - Very rare	250
HP:0031567	HP:0001647	Bicuspid aortic valve	1	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	1361
HP:0031567	HP:0001647	Bicuspid aortic valve	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0031567	HP:0001647	Bicuspid aortic valve	1	FBN1 CL E G H	2200	3603	OMIM:184900	STIFF SKIN SYNDROME; SSKS		1361
HP:0031567	HP:0001647	Bicuspid aortic valve	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.	655
HP:0031567	HP:0001647	Bicuspid aortic valve	1	FDFT1 CL E G H	2222	3629	OMIM:618156	SQUALENE SYNTHASE DEFICIENCY; SQSD
HP:0031567	HP:0001647	Bicuspid aortic valve	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0031567	HP:0001647	Bicuspid aortic valve	1	FLNA CL E G H	2316	3754	OMIM:314400	Cardiac valvular dysplasia, X-linked	HP:0040284 - Very rare	493
HP:0031567	HP:0001647	Bicuspid aortic valve	1	FLNA CL E G H	2316	3754	ORPHA:555877	FLNA-related X-linked myxomatous valvular dysplasia		493
HP:0031567	HP:0001647	Bicuspid aortic valve	1	FLNA CL E G H	2316	3754	OMIM:300049	Heterotopia, periventricular, X-linked dominant	.	493
HP:0031567	HP:0001647	Bicuspid aortic valve	1	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	23
HP:0031567	HP:0001647	Bicuspid aortic valve	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0031567	HP:0001647	Bicuspid aortic valve	1	FOXF1 CL E G H	2294	3809	ORPHA:210122	Congenital alveolar capillary dysplasia	HP:0040283 - Occasional	61
HP:0031567	HP:0001647	Bicuspid aortic valve	1	GATA5 CL E G H	140628	15802	OMIM:617912	Congenital heart defects, multiple types, 5	.	10
HP:0031567	HP:0001647	Bicuspid aortic valve	1	GATA5 CL E G H	140628	15802	ORPHA:402075	Familial bicuspid aortic valve	HP:0040280 - Obligate	10
HP:0031567	HP:0001647	Bicuspid aortic valve	1	GATA6 CL E G H	2627	4174	OMIM:614475	Atrial septal defect 9		37
HP:0031567	HP:0001647	Bicuspid aortic valve	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	39
HP:0031567	HP:0001647	Bicuspid aortic valve	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb	.	34
HP:0031567	HP:0001647	Bicuspid aortic valve	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0031567	HP:0001647	Bicuspid aortic valve	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0031567	HP:0001647	Bicuspid aortic valve	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0031567	HP:0001647	Bicuspid aortic valve	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0031567	HP:0001647	Bicuspid aortic valve	1	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0031567	HP:0001647	Bicuspid aortic valve	1	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:0031567	HP:0001647	Bicuspid aortic valve	1	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:0031567	HP:0001647	Bicuspid aortic valve	1	IFT122 CL E G H	55764	13556	OMIM:218330	Cranioectodermal dysplasia	.	93
HP:0031567	HP:0001647	Bicuspid aortic valve	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0031567	HP:0001647	Bicuspid aortic valve	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0031567	HP:0001647	Bicuspid aortic valve	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0031567	HP:0001647	Bicuspid aortic valve	1	KIF3B CL E G H	9371	6320	OMIM:618955	RETINITIS PIGMENTOSA 89; RP89
HP:0031567	HP:0001647	Bicuspid aortic valve	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0031567	HP:0001647	Bicuspid aortic valve	1	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10	HP:0040283 - Occasional	6
HP:0031567	HP:0001647	Bicuspid aortic valve	1	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	6
HP:0031567	HP:0001647	Bicuspid aortic valve	1	MAP3K7 CL E G H	6885	6859	OMIM:617137	Frontometaphyseal dysplasia 2	.	11
HP:0031567	HP:0001647	Bicuspid aortic valve	1	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	13
HP:0031567	HP:0001647	Bicuspid aortic valve	1	MCTP2 CL E G H	55784	25636	ORPHA:1596	Distal monosomy 15q	HP:0040282 - Frequent	3
HP:0031567	HP:0001647	Bicuspid aortic valve	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0031567	HP:0001647	Bicuspid aortic valve	1	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	11
HP:0031567	HP:0001647	Bicuspid aortic valve	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0031567	HP:0001647	Bicuspid aortic valve	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome	.	1
HP:0031567	HP:0001647	Bicuspid aortic valve	1	MMP14 CL E G H	4323	7160	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	2
HP:0031567	HP:0001647	Bicuspid aortic valve	1	MMP2 CL E G H	4313	7166	ORPHA:371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	HP:0040283 - Occasional	64
HP:0031567	HP:0001647	Bicuspid aortic valve	1	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4	.	418
HP:0031567	HP:0001647	Bicuspid aortic valve	1	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	418
HP:0031567	HP:0001647	Bicuspid aortic valve	1	MYH7 CL E G H	4625	7577	OMIM:613426	Cardiomyopathy, dilated, 1S	HP:0040283 - Occasional	1269
HP:0031567	HP:0001647	Bicuspid aortic valve	1	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	326
HP:0031567	HP:0001647	Bicuspid aortic valve	1	MYOCD CL E G H	93649	16067	OMIM:618719	MEGABLADDER, CONGENITAL; MGBL		3
HP:0031567	HP:0001647	Bicuspid aortic valve	1	NAA10 CL E G H	8260	18704	OMIM:309800	Microphthalmia, syndromic 1	.	23
HP:0031567	HP:0001647	Bicuspid aortic valve	1	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0031567	HP:0001647	Bicuspid aortic valve	1	NADSYN1 CL E G H	55191	29832	OMIM:618845	VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3; VCRL3
HP:0031567	HP:0001647	Bicuspid aortic valve	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0031567	HP:0001647	Bicuspid aortic valve	1	NFE2L2 CL E G H	4780	7782	OMIM:617744	Immunodeficiency, developmental delay, and hypohomocysteinemia		20
HP:0031567	HP:0001647	Bicuspid aortic valve	1	NKX2-5 CL E G H	1482	2488	ORPHA:402075	Familial bicuspid aortic valve	HP:0040280 - Obligate	90
HP:0031567	HP:0001647	Bicuspid aortic valve	1	NOTCH1 CL E G H	4851	7881	OMIM:109730	Aortic valve disease 1	.	452
HP:0031567	HP:0001647	Bicuspid aortic valve	1	NOTCH1 CL E G H	4851	7881	ORPHA:402075	Familial bicuspid aortic valve	HP:0040280 - Obligate	452
HP:0031567	HP:0001647	Bicuspid aortic valve	1	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	HP:0040283 - Occasional	144
HP:0031567	HP:0001647	Bicuspid aortic valve	1	NXN CL E G H	64359	18008	OMIM:618529	Robinow syndrome, autosomal recessive 2	.	2
HP:0031567	HP:0001647	Bicuspid aortic valve	1	OGT CL E G H	8473	8127	OMIM:300997	Mental retardation, X-linked 106		4
HP:0031567	HP:0001647	Bicuspid aortic valve	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0031567	HP:0001647	Bicuspid aortic valve	1	PACS1 CL E G H	55690	30032	OMIM:615009	Schuurs-Hoeijmakers syndrome	.	24
HP:0031567	HP:0001647	Bicuspid aortic valve	1	PPM1D CL E G H	8493	9277	OMIM:617450	Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold		22
HP:0031567	HP:0001647	Bicuspid aortic valve	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040284 - Very rare	10
HP:0031567	HP:0001647	Bicuspid aortic valve	1	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	41
HP:0031567	HP:0001647	Bicuspid aortic valve	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0031567	HP:0001647	Bicuspid aortic valve	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0031567	HP:0001647	Bicuspid aortic valve	1	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:0031567	HP:0001647	Bicuspid aortic valve	1	RAI1 CL E G H	10743	9834	ORPHA:477817	PMP22-RAI1 contiguous gene duplication syndrome	HP:0040283 - Occasional	150
HP:0031567	HP:0001647	Bicuspid aortic valve	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0031567	HP:0001647	Bicuspid aortic valve	1	ROBO4 CL E G H	54538	17985	OMIM:618496	Aortic valve disease 3	.
HP:0031567	HP:0001647	Bicuspid aortic valve	1	RPL26 CL E G H	6154	10327	OMIM:614900	Diamond-Blackfan anemia 11	.	3
HP:0031567	HP:0001647	Bicuspid aortic valve	1	SGO1 CL E G H	151648	25088	OMIM:616201	Chronic atrial and intestinal dysrhythmia	HP:0040283 - Occasional	2
HP:0031567	HP:0001647	Bicuspid aortic valve	1	SKIC2 CL E G H	6499	10898	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0031567	HP:0001647	Bicuspid aortic valve	1	SKIC3 CL E G H	9652	23639	ORPHA:84064	Syndromic diarrhea	HP:0040284 - Very rare
HP:0031567	HP:0001647	Bicuspid aortic valve	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0031567	HP:0001647	Bicuspid aortic valve	1	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	7
HP:0031567	HP:0001647	Bicuspid aortic valve	1	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	260
HP:0031567	HP:0001647	Bicuspid aortic valve	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0031567	HP:0001647	Bicuspid aortic valve	1	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	504
HP:0031567	HP:0001647	Bicuspid aortic valve	1	SMAD6 CL E G H	4091	6772	OMIM:614823	Aortic valve disease 2	.	33
HP:0031567	HP:0001647	Bicuspid aortic valve	1	SMAD6 CL E G H	4091	6772	ORPHA:402075	Familial bicuspid aortic valve	HP:0040280 - Obligate	33
HP:0031567	HP:0001647	Bicuspid aortic valve	1	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0031567	HP:0001647	Bicuspid aortic valve	1	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	.	3
HP:0031567	HP:0001647	Bicuspid aortic valve	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0031567	HP:0001647	Bicuspid aortic valve	1	SRY CL E G H	6736	11311	ORPHA:1772	45,X/46,XY mixed gonadal dysgenesis	HP:0040283 - Occasional	23
HP:0031567	HP:0001647	Bicuspid aortic valve	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0031567	HP:0001647	Bicuspid aortic valve	1	TAB2 CL E G H	23118	17075	OMIM:614980	Congenital heart defects, multiple types, 2	.	11
HP:0031567	HP:0001647	Bicuspid aortic valve	1	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40	HP:0040283 - Occasional	7
HP:0031567	HP:0001647	Bicuspid aortic valve	1	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome	HP:0040283 - Occasional	7
HP:0031567	HP:0001647	Bicuspid aortic valve	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0031567	HP:0001647	Bicuspid aortic valve	1	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	162
HP:0031567	HP:0001647	Bicuspid aortic valve	1	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0031567	HP:0001647	Bicuspid aortic valve	1	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	85
HP:0031567	HP:0001647	Bicuspid aortic valve	1	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	239
HP:0031567	HP:0001647	Bicuspid aortic valve	1	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	253
HP:0031567	HP:0001647	Bicuspid aortic valve	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0031567	HP:0001647	Bicuspid aortic valve	1	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12		2
HP:0031567	HP:0001647	Bicuspid aortic valve	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0031567	HP:0031655	Quadricuspid aortic valve	1	TNXB CL E G H	7148	11976	OMIM:606408	Ehlers-Danlos syndrome, classic-like	.	134
HP:0031567	HP:0001647	Bicuspid aortic valve	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0031567	HP:0001647	Bicuspid aortic valve	1	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:0031567	HP:0001647	Bicuspid aortic valve	1	WT1 CL E G H	7490	12796	OMIM:608978	MEACHAM SYNDROME		177
HP:0031567	HP:0001647	Bicuspid aortic valve	1	YY1AP1 CL E G H	55249	30935	OMIM:602531	Grange syndrome	HP:0040283 - Occasional	5
HP:0031567	HP:0001647	Bicuspid aortic valve	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0031567	HP:0001647	Bicuspid aortic valve	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362
HP:0031567	HP:0001647	Bicuspid aortic valve	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0031567	HP:0031118	Single raphe bicuspid aortic valve	2	CL E G H
HP:0031567	HP:0031117	Purely bicuspid aortic valve	2	CL E G H
HP:0031567	HP:0031122	Two-raphe bicuspid aortic valve	2	CL E G H
HP:0031567	HP:0031121	Bicuspid aortic valve with left-noncoronary cusp fusion	3	CL E G H
HP:0031567	HP:0031120	Bicuspid aortic valve with right-noncoronary cusp fusion	3	CL E G H
HP:0031567	HP:0031119	Bicuspid aortic valve with right-left cusp fusion	3	CL E G H

Genes (111) :ABCC9 ACTA2 ACTB ADA2 ADAMTS19 AGO2 ARHGAP31 ARSK B3GALT6 B3GAT3 BAZ1B BBS2 BCAS3 BCL7B BCOR BUD23 CAPN15 CBL CCNQ CHST3 CLIP2 CREBBP DNAJC30 DOHH DPF2 EDNRA EIF4H ELN EP300 FBN1 FBN2 FDFT1 FKBP6 FLNA FOXE3 FOXF1 GATA5 GATA6 GJA5 GJA8 GTF2I GTF2IRD1 GTF2IRD2 H3-3A HEY2 HNRNPK IFT122 KANSL1 KIF3B LIMK1 LOX MAP3K7 MAT2A MCTP2 METTL27 MFAP5 MLXIPL MMP14 MMP2 MYH11 MYH7 MYLK MYOCD NAA10 NADSYN1 NCF1 NFE2L2 NKX2-5 NOTCH1 NOTCH3 NXN OGT PACS1 PPM1D PPP2R5D PRKG1 PUF60 RAC1 RAI1 RFC2 ROBO4 RPL26 SGO1 SKIC2 SKIC3 SLC25A24 SMAD2 SMAD3 SMAD4 SMAD6 SMC3 SNIP1 SPTBN1 SRY STX1A TAB2 TAF2 TBL2 TGFB2 TGFB3 TGFBR1 TGFBR2 THSD4 TMEM270 TNXB VPS37D WAC WT1 YY1AP1 ZEB2 ZNF462

Diseases (91) :OMIM:239850 ORPHA:91387 OMIM:243310 OMIM:182410 OMIM:620067 OMIM:619149 OMIM:100300 OMIM:619698 OMIM:271640 OMIM:245600 ORPHA:904 OMIM:615981 OMIM:619641 OMIM:309800 OMIM:619318 OMIM:613563 OMIM:300707 ORPHA:353281 ORPHA:353277 OMIM:620066 OMIM:618027 OMIM:616367 OMIM:194050 ORPHA:353284 OMIM:154700 OMIM:184900 OMIM:121050 OMIM:618156 OMIM:314400 ORPHA:555877 OMIM:300049 OMIM:265380 ORPHA:210122 OMIM:617912 ORPHA:402075 OMIM:614475 OMIM:612474 OMIM:619720 ORPHA:352665 ORPHA:453504 OMIM:218330 ORPHA:363958 OMIM:610443 ORPHA:363965 OMIM:618955 OMIM:617168 OMIM:617137 ORPHA:1596 ORPHA:371428 OMIM:132900 OMIM:613426 OMIM:618719 OMIM:300855 OMIM:618845 OMIM:617744 OMIM:109730 OMIM:130720 OMIM:618529 OMIM:300997 ORPHA:329224 OMIM:615009 OMIM:617450 ORPHA:457279 ORPHA:508498 OMIM:617751 ORPHA:500159 ORPHA:477817 OMIM:618496 OMIM:614900 OMIM:616201 ORPHA:84064 OMIM:612289 OMIM:613795 OMIM:614823 OMIM:610759 OMIM:614501 OMIM:619475 ORPHA:1772 OMIM:614980 OMIM:615599 ORPHA:397951 OMIM:614816 OMIM:610168 OMIM:619825 OMIM:606408 ORPHA:284169 OMIM:608978 OMIM:602531 ORPHA:261552 ORPHA:261537 OMIM:618619

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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