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 aortic morphology (HP:0001679)

Grandparent Node:
Vascular dilatation (HP:0002617)

Parent Node:
Aortic aneurysm (HP:0004942)

..Starting node
..Thoracic aortic aneurysm (HP:0012727)

Term ID:

12727

Name:

Thoracic aortic aneurysm

Synonym:

Dilatation of the thoracic aorta

Definition:

An abnormal localized widening (dilatation) of the thoracic aorta.

Comments:

Reference:

HP:0012727

Genes and Diseases:

Child Nodes:

........

Aortic root aneurysm (HP:0002616)

........

Descending thoracic aorta aneurysm (HP:0004959)

................... HP:0012728 Fusiform descending thoracic aortic aneurysm
................... HP:0012729 Saccular descending thoracic aortic aneurysm

........

Ascending tubular aorta aneurysm (HP:0004970)

................... HP:0011645 Dilatation of the sinus of Valsalva
................... HP:0031643 Fusiform ascending tubular aorta aneurysm

........

Aortic arch aneurysm (HP:0005113)

................... HP:0031646 Fusiform aortic arch aneurysm
................... HP:0031647 Saccular aortic arch aneurysm

Sister Nodes:

Abdominal aortic aneurysm (HP:0005112)

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:0012727	HP:0012727	Thoracic aortic aneurysm	0	ACTA2 CL E G H	59	130	OMIM:611788	AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6		94
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		94
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	ACTA2 CL E G H	59	130	OMIM:614042	Moyamoya disease 5		94
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome	.	94
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	ADAMTS19 CL E G H	171019	17111	OMIM:620067			1
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	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:0012727	HP:0012727	Thoracic aortic aneurysm	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease		93
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	ANGPTL6 CL E G H	83854	23140	ORPHA:231160	Familial cerebral saccular aneurysm
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional	38
HP:0012727	HP:0012727	Thoracic aortic aneurysm	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:0012727	HP:0012727	Thoracic aortic aneurysm	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease		5
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome		3
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0012727	HP:0012727	Thoracic aortic aneurysm	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:0012727	HP:0012727	Thoracic aortic aneurysm	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome		373
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome		243
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	COL3A1 CL E G H	1281	2201	ORPHA:231160	Familial cerebral saccular aneurysm		749
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome		749
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome		660
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome		325
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome		44
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		172
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	ENG CL E G H	2022	3349	ORPHA:231160	Familial cerebral saccular aneurysm		186
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA		63
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		1361
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome		1361
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital		655
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome		30
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers		30
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		23
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome		10
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease		6
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	GATA5 CL E G H	140628	15802	ORPHA:402075	Familial bicuspid aortic valve		10
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis		4
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome		345
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease		148
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis		31
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome		1
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1		13
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome		645
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy		645
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10		6
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		6
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		13
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome		228
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	MFAP5 CL E G H	8076	29673	OMIM:616166	AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9		11
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		11
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4		418
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection		418
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		418
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	MYH11 CL E G H	4629	7569	OMIM:619351	MEGACYSTIS-MICROCOLON-INTESTINAL HYPOPERISTALSIS SYNDROME 2; MMIHS2		418
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		326
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy		217
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	NKX2-5 CL E G H	1482	2488	ORPHA:402075	Familial bicuspid aortic valve		90
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	NOTCH1 CL E G H	4851	7881	ORPHA:402075	Familial bicuspid aortic valve		452
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	NPR3 CL E G H	4883	7945	OMIM:619543	BOUDIN-MORTIER SYNDROME; BOMOS
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease		342
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease		106
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome		148
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		41
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome		16
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	ROBO4 CL E G H	54538	17985	OMIM:618496	Aortic valve disease 3
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome		150
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome		178
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	SMAD2 CL E G H	4087	6768	OMIM:619657	CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY; CHTD8		7
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		7
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6		7
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		260
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		504
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	SMAD6 CL E G H	4091	6772	ORPHA:402075	Familial bicuspid aortic valve		33
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome		4
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		162
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		85
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		239
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection		253
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	TGFBR3 CL E G H	7049	11774	ORPHA:231160	Familial cerebral saccular aneurysm		1
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	THSD1 CL E G H	55901	17754	ORPHA:231160	Familial cerebral saccular aneurysm		2
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12		2
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy		54
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy		108
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0012727	HP:0012727	Thoracic aortic aneurysm	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy		83
HP:0012727	HP:0004970	Ascending tubular aorta aneurysm	1	ACTA2 CL E G H	59	130	OMIM:611788	AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6		94
HP:0012727	HP:0002616	Aortic root aneurysm	1	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	94
HP:0012727	HP:0004959	Descending thoracic aorta aneurysm	1	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	94
HP:0012727	HP:0004970	Ascending tubular aorta aneurysm	1	ACTA2 CL E G H	59	130	OMIM:614042	Moyamoya disease 5	.	94
HP:0012727	HP:0005113	Aortic arch aneurysm	1	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome		94
HP:0012727	HP:0004970	Ascending tubular aorta aneurysm	1	ADAMTS19 CL E G H	171019	17111	OMIM:620067			1
HP:0012727	HP:0002616	Aortic root aneurysm	1	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0012727	HP:0002616	Aortic root aneurysm	1	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0012727	HP:0002616	Aortic root aneurysm	1	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:0012727	HP:0002616	Aortic root aneurysm	1	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0012727	HP:0002616	Aortic root aneurysm	1	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional
HP:0012727	HP:0002616	Aortic root aneurysm	1	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	93
HP:0012727	HP:0002616	Aortic root aneurysm	1	ANGPTL6 CL E G H	83854	23140	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional
HP:0012727	HP:0002616	Aortic root aneurysm	1	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0012727	HP:0004970	Ascending tubular aorta aneurysm	1	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0012727	HP:0002616	Aortic root aneurysm	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional	38
HP:0012727	HP:0004970	Ascending tubular aorta aneurysm	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional	38
HP:0012727	HP:0002616	Aortic root aneurysm	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:0012727	HP:0005113	Aortic arch aneurysm	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012727	HP:0005113	Aortic arch aneurysm	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012727	HP:0002616	Aortic root aneurysm	1	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	5
HP:0012727	HP:0004970	Ascending tubular aorta aneurysm	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional	7
HP:0012727	HP:0005113	Aortic arch aneurysm	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012727	HP:0002616	Aortic root aneurysm	1	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0012727	HP:0005113	Aortic arch aneurysm	1	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	3
HP:0012727	HP:0005113	Aortic arch aneurysm	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	515
HP:0012727	HP:0002616	Aortic root aneurysm	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:0012727	HP:0005113	Aortic arch aneurysm	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012727	HP:0002616	Aortic root aneurysm	1	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0012727	HP:0002616	Aortic root aneurysm	1	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040282 - Frequent	243
HP:0012727	HP:0002616	Aortic root aneurysm	1	COL3A1 CL E G H	1281	2201	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional	749
HP:0012727	HP:0004970	Ascending tubular aorta aneurysm	1	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0012727	HP:0002616	Aortic root aneurysm	1	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0012727	HP:0002616	Aortic root aneurysm	1	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0012727	HP:0002616	Aortic root aneurysm	1	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0012727	HP:0002616	Aortic root aneurysm	1	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional
HP:0012727	HP:0005113	Aortic arch aneurysm	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012727	HP:0002616	Aortic root aneurysm	1	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040284 - Very rare	44
HP:0012727	HP:0005113	Aortic arch aneurysm	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012727	HP:0004959	Descending thoracic aorta aneurysm	1	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	172
HP:0012727	HP:0002616	Aortic root aneurysm	1	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	172
HP:0012727	HP:0005113	Aortic arch aneurysm	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0012727	HP:0002616	Aortic root aneurysm	1	ENG CL E G H	2022	3349	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional	186
HP:0012727	HP:0002616	Aortic root aneurysm	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	199
HP:0012727	HP:0002616	Aortic root aneurysm	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	55
HP:0012727	HP:0004970	Ascending tubular aorta aneurysm	1	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA	.	63
HP:0012727	HP:0002616	Aortic root aneurysm	1	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	1361
HP:0012727	HP:0004959	Descending thoracic aorta aneurysm	1	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	1361
HP:0012727	HP:0002616	Aortic root aneurysm	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0012727	HP:0002616	Aortic root aneurysm	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0012727	HP:0004970	Ascending tubular aorta aneurysm	1	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	.	1361
HP:0012727	HP:0002616	Aortic root aneurysm	1	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent	1361
HP:0012727	HP:0004970	Ascending tubular aorta aneurysm	1	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent	1361
HP:0012727	HP:0002616	Aortic root aneurysm	1	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.	655
HP:0012727	HP:0005113	Aortic arch aneurysm	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012727	HP:0004970	Ascending tubular aorta aneurysm	1	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome	HP:0040283 - Occasional	30
HP:0012727	HP:0002616	Aortic root aneurysm	1	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040284 - Very rare	30
HP:0012727	HP:0004959	Descending thoracic aorta aneurysm	1	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	23
HP:0012727	HP:0002616	Aortic root aneurysm	1	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	23
HP:0012727	HP:0005113	Aortic arch aneurysm	1	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	10
HP:0012727	HP:0002616	Aortic root aneurysm	1	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	6
HP:0012727	HP:0005113	Aortic arch aneurysm	1	GATA5 CL E G H	140628	15802	ORPHA:402075	Familial bicuspid aortic valve	HP:0040282 - Frequent	10
HP:0012727	HP:0004970	Ascending tubular aorta aneurysm	1	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0012727	HP:0004970	Ascending tubular aorta aneurysm	1	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0012727	HP:0005113	Aortic arch aneurysm	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0012727	HP:0005113	Aortic arch aneurysm	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0012727	HP:0005113	Aortic arch aneurysm	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0012727	HP:0004959	Descending thoracic aorta aneurysm	1	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0012727	HP:0002616	Aortic root aneurysm	1	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0012727	HP:0004970	Ascending tubular aorta aneurysm	1	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent	4
HP:0012727	HP:0005113	Aortic arch aneurysm	1	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	345
HP:0012727	HP:0002616	Aortic root aneurysm	1	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	148
HP:0012727	HP:0004970	Ascending tubular aorta aneurysm	1	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent	31
HP:0012727	HP:0004970	Ascending tubular aorta aneurysm	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0012727	HP:0002616	Aortic root aneurysm	1	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0012727	HP:0002616	Aortic root aneurysm	1	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0012727	HP:0005113	Aortic arch aneurysm	1	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	1
HP:0012727	HP:0002616	Aortic root aneurysm	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.	13
HP:0012727	HP:0005113	Aortic arch aneurysm	1	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.	13
HP:0012727	HP:0005113	Aortic arch aneurysm	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012727	HP:0002616	Aortic root aneurysm	1	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0012727	HP:0004970	Ascending tubular aorta aneurysm	1	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	645
HP:0012727	HP:0002616	Aortic root aneurysm	1	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10	.	6
HP:0012727	HP:0005113	Aortic arch aneurysm	1	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10	HP:0040284 - Very rare	6
HP:0012727	HP:0004959	Descending thoracic aorta aneurysm	1	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	6
HP:0012727	HP:0002616	Aortic root aneurysm	1	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	6
HP:0012727	HP:0005113	Aortic arch aneurysm	1	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0012727	HP:0002616	Aortic root aneurysm	1	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	13
HP:0012727	HP:0004959	Descending thoracic aorta aneurysm	1	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	13
HP:0012727	HP:0004970	Ascending tubular aorta aneurysm	1	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.	228
HP:0012727	HP:0005113	Aortic arch aneurysm	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0012727	HP:0004959	Descending thoracic aorta aneurysm	1	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	11
HP:0012727	HP:0002616	Aortic root aneurysm	1	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	11
HP:0012727	HP:0002616	Aortic root aneurysm	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0012727	HP:0004970	Ascending tubular aorta aneurysm	1	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent
HP:0012727	HP:0005113	Aortic arch aneurysm	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0012727	HP:0005113	Aortic arch aneurysm	1	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0012727	HP:0004970	Ascending tubular aorta aneurysm	1	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4		418
HP:0012727	HP:0002616	Aortic root aneurysm	1	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection	HP:0040282 - Frequent	418
HP:0012727	HP:0004959	Descending thoracic aorta aneurysm	1	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection	HP:0040282 - Frequent	418
HP:0012727	HP:0002616	Aortic root aneurysm	1	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	418
HP:0012727	HP:0004959	Descending thoracic aorta aneurysm	1	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	418
HP:0012727	HP:0004959	Descending thoracic aorta aneurysm	1	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	326
HP:0012727	HP:0002616	Aortic root aneurysm	1	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	326
HP:0012727	HP:0002616	Aortic root aneurysm	1	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	217
HP:0012727	HP:0005113	Aortic arch aneurysm	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0012727	HP:0002616	Aortic root aneurysm	1	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0012727	HP:0005113	Aortic arch aneurysm	1	NKX2-5 CL E G H	1482	2488	ORPHA:402075	Familial bicuspid aortic valve	HP:0040282 - Frequent	90
HP:0012727	HP:0004970	Ascending tubular aorta aneurysm	1	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0012727	HP:0005113	Aortic arch aneurysm	1	NOTCH1 CL E G H	4851	7881	ORPHA:402075	Familial bicuspid aortic valve	HP:0040282 - Frequent	452
HP:0012727	HP:0002616	Aortic root aneurysm	1	NPR3 CL E G H	4883	7945	OMIM:619543	BOUDIN-MORTIER SYNDROME; BOMOS
HP:0012727	HP:0005113	Aortic arch aneurysm	1	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0012727	HP:0002616	Aortic root aneurysm	1	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0012727	HP:0002616	Aortic root aneurysm	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0012727	HP:0002616	Aortic root aneurysm	1	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	342
HP:0012727	HP:0002616	Aortic root aneurysm	1	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	106
HP:0012727	HP:0002616	Aortic root aneurysm	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0012727	HP:0005113	Aortic arch aneurysm	1	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	148
HP:0012727	HP:0005113	Aortic arch aneurysm	1	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0012727	HP:0004959	Descending thoracic aorta aneurysm	1	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	41
HP:0012727	HP:0002616	Aortic root aneurysm	1	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	41
HP:0012727	HP:0005113	Aortic arch aneurysm	1	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	16
HP:0012727	HP:0005113	Aortic arch aneurysm	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012727	HP:0002616	Aortic root aneurysm	1	ROBO4 CL E G H	54538	17985	OMIM:618496	Aortic valve disease 3	.
HP:0012727	HP:0005113	Aortic arch aneurysm	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	16
HP:0012727	HP:0005113	Aortic arch aneurysm	1	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	150
HP:0012727	HP:0002616	Aortic root aneurysm	1	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040281 - Very frequent	178
HP:0012727	HP:0004959	Descending thoracic aorta aneurysm	1	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	7
HP:0012727	HP:0002616	Aortic root aneurysm	1	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	7
HP:0012727	HP:0004970	Ascending tubular aorta aneurysm	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0012727	HP:0004959	Descending thoracic aorta aneurysm	1	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	260
HP:0012727	HP:0002616	Aortic root aneurysm	1	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	260
HP:0012727	HP:0004970	Ascending tubular aorta aneurysm	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0012727	HP:0004959	Descending thoracic aorta aneurysm	1	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	504
HP:0012727	HP:0002616	Aortic root aneurysm	1	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	504
HP:0012727	HP:0005113	Aortic arch aneurysm	1	SMAD6 CL E G H	4091	6772	ORPHA:402075	Familial bicuspid aortic valve	HP:0040282 - Frequent	33
HP:0012727	HP:0002616	Aortic root aneurysm	1	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0012727	HP:0005113	Aortic arch aneurysm	1	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	4
HP:0012727	HP:0005113	Aortic arch aneurysm	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012727	HP:0005113	Aortic arch aneurysm	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012727	HP:0004959	Descending thoracic aorta aneurysm	1	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	162
HP:0012727	HP:0002616	Aortic root aneurysm	1	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	162
HP:0012727	HP:0004970	Ascending tubular aorta aneurysm	1	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0012727	HP:0002616	Aortic root aneurysm	1	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0012727	HP:0004959	Descending thoracic aorta aneurysm	1	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	85
HP:0012727	HP:0002616	Aortic root aneurysm	1	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	85
HP:0012727	HP:0002616	Aortic root aneurysm	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0012727	HP:0002616	Aortic root aneurysm	1	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	239
HP:0012727	HP:0004959	Descending thoracic aorta aneurysm	1	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	239
HP:0012727	HP:0002616	Aortic root aneurysm	1	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0012727	HP:0004959	Descending thoracic aorta aneurysm	1	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	253
HP:0012727	HP:0002616	Aortic root aneurysm	1	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	253
HP:0012727	HP:0005113	Aortic arch aneurysm	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0012727	HP:0004970	Ascending tubular aorta aneurysm	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2	.	253
HP:0012727	HP:0004959	Descending thoracic aorta aneurysm	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0012727	HP:0002616	Aortic root aneurysm	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0012727	HP:0002616	Aortic root aneurysm	1	TGFBR3 CL E G H	7049	11774	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional	1
HP:0012727	HP:0002616	Aortic root aneurysm	1	THSD1 CL E G H	55901	17754	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional	2
HP:0012727	HP:0002616	Aortic root aneurysm	1	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12		2
HP:0012727	HP:0004970	Ascending tubular aorta aneurysm	1	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12		2
HP:0012727	HP:0005113	Aortic arch aneurysm	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012727	HP:0002616	Aortic root aneurysm	1	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	54
HP:0012727	HP:0002616	Aortic root aneurysm	1	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	108
HP:0012727	HP:0005113	Aortic arch aneurysm	1	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0012727	HP:0005113	Aortic arch aneurysm	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0012727	HP:0004970	Ascending tubular aorta aneurysm	1	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	83
HP:0012727	HP:0031646	Fusiform aortic arch aneurysm	2	CL E G H
HP:0012727	HP:0031643	Fusiform ascending tubular aorta aneurysm	2	CL E G H
HP:0012727	HP:0012729	Saccular descending thoracic aortic aneurysm	2	CL E G H
HP:0012727	HP:0012728	Fusiform descending thoracic aortic aneurysm	2	CL E G H
HP:0012727	HP:0031647	Saccular aortic arch aneurysm	2	CL E G H
HP:0012727	HP:0011645	Dilatation of the sinus of Valsalva	2	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040281 - Very frequent	260
HP:0012727	HP:0011645	Dilatation of the sinus of Valsalva	2	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260

Genes (115) :ACTA2 ADAMTS19 AEBP1 AFF4 ALDH1A2 ALG5 ALG9 ANGPTL6 ATP2B1 ATP6V1A B3GALT6 B3GAT3 BAZ1B BCL7B BICC1 BRF1 BUD23 CARS1 CASZ1 CHD7 CHST3 CLIP2 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 DNAJB11 DNAJC30 DNMT3A EIF4H ELN ENG ERCC6 ERCC8 FBLN5 FBN1 FBN2 FKBP6 FMR1 FOXE3 GABRD GANAB GATA5 GJA5 GJA8 GTF2I GTF2IRD1 GTF2IRD2 HEY2 HLA-B HSPG2 IFT140 IL12B IPO8 KANSL1 KCNAB2 KCNH1 LIMK1 LMNA LOX LUZP1 MAT2A MED12 METTL27 MFAP5 MID1 MLX MLXIPL MMP23B MYH11 MYLK MYPN NCF1 NKAP NKX2-5 NODAL NOTCH1 NPR3 PDPN PGM3 PIGN PKD1 PKD2 PPP1CB PRDM16 PRKCZ PRKG1 RERE RFC2 ROBO4 SEMA3E SKI SLC2A10 SMAD2 SMAD3 SMAD4 SMAD6 SPECC1L SPEN STX1A TBL2 TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THSD1 THSD4 TMEM270 TPM2 TPM3 UBE4B VPS37D ZMPSTE24

Diseases (67) :OMIM:611788 ORPHA:91387 OMIM:614042 OMIM:613834 OMIM:620067 ORPHA:536532 OMIM:618000 ORPHA:444077 OMIM:620025 ORPHA:730 ORPHA:231160 OMIM:619910 OMIM:617403 ORPHA:536467 OMIM:245600 ORPHA:904 ORPHA:444072 OMIM:618891 ORPHA:1606 ORPHA:138 ORPHA:287 ORPHA:230851 ORPHA:286 OMIM:130000 ORPHA:404443 ORPHA:90324 OMIM:219100 OMIM:616914 OMIM:154700 ORPHA:284979 OMIM:121050 ORPHA:908 ORPHA:449291 ORPHA:402075 OMIM:612474 ORPHA:3287 OMIM:619472 OMIM:610443 OMIM:135500 ORPHA:363618 ORPHA:1662 OMIM:617168 OMIM:309520 OMIM:616166 ORPHA:2745 OMIM:132900 ORPHA:229 OMIM:619351 ORPHA:171881 OMIM:301039 OMIM:270100 OMIM:619543 OMIM:615816 ORPHA:280633 OMIM:617506 OMIM:618496 ORPHA:3342 OMIM:619657 OMIM:619656 ORPHA:284984 OMIM:613795 OMIM:145420 OMIM:614816 OMIM:615582 OMIM:609192 OMIM:610168 OMIM:619825

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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