Human Phenotype Ontology

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:0002647	HP:0002647	Aortic dissection	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	415
HP:0002647	HP:0002647	Aortic dissection	0	ACTA2 CL E G H	59	130	OMIM:611788	AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6		94
HP:0002647	HP:0002647	Aortic dissection	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	94
HP:0002647	HP:0002647	Aortic dissection	0	ANGPTL6 CL E G H	83854	23140	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional
HP:0002647	HP:0002647	Aortic dissection	0	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome	HP:0040283 - Occasional	7
HP:0002647	HP:0002647	Aortic dissection	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0002647	HP:0002647	Aortic dissection	0	COL3A1 CL E G H	1281	2201	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional	749
HP:0002647	HP:0002647	Aortic dissection	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	.	749
HP:0002647	HP:0002647	Aortic dissection	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040281 - Very frequent	749
HP:0002647	HP:0002647	Aortic dissection	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	172
HP:0002647	HP:0002647	Aortic dissection	0	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0002647	HP:0002647	Aortic dissection	0	ENG CL E G H	2022	3349	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional	186
HP:0002647	HP:0002647	Aortic dissection	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	151
HP:0002647	HP:0002647	Aortic dissection	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	1361
HP:0002647	HP:0002647	Aortic dissection	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0002647	HP:0002647	Aortic dissection	0	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0002647	HP:0002647	Aortic dissection	0	FOXE3 CL E G H	2301	3808	OMIM:617349	AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO; AAT11		23
HP:0002647	HP:0002647	Aortic dissection	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	23
HP:0002647	HP:0002647	Aortic dissection	0	GATA5 CL E G H	140628	15802	ORPHA:402075	Familial bicuspid aortic valve		10
HP:0002647	HP:0002647	Aortic dissection	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0002647	HP:0002647	Aortic dissection	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	4
HP:0002647	HP:0002647	Aortic dissection	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	2
HP:0002647	HP:0002647	Aortic dissection	0	IPO8 CL E G H	10526	9853	ORPHA:60030	Loeys-Dietz syndrome	HP:0040281 - Very frequent
HP:0002647	HP:0002647	Aortic dissection	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	6
HP:0002647	HP:0002647	Aortic dissection	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	13
HP:0002647	HP:0002647	Aortic dissection	0	MFAP5 CL E G H	8076	29673	OMIM:616166	AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9		11
HP:0002647	HP:0002647	Aortic dissection	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	11
HP:0002647	HP:0002647	Aortic dissection	0	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4		418
HP:0002647	HP:0002647	Aortic dissection	0	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection	HP:0040283 - Occasional	418
HP:0002647	HP:0002647	Aortic dissection	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	418
HP:0002647	HP:0002647	Aortic dissection	0	MYLK CL E G H	4638	7590	OMIM:613780	AORTIC ANEURYSM, FAMILIAL THORACIC 7; AAT7		326
HP:0002647	HP:0002647	Aortic dissection	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	326
HP:0002647	HP:0002647	Aortic dissection	0	NKX2-5 CL E G H	1482	2488	ORPHA:402075	Familial bicuspid aortic valve		90
HP:0002647	HP:0002647	Aortic dissection	0	NOTCH1 CL E G H	4851	7881	ORPHA:402075	Familial bicuspid aortic valve		452
HP:0002647	HP:0002647	Aortic dissection	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0002647	HP:0002647	Aortic dissection	0	PLOD1 CL E G H	5351	9081	ORPHA:1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	HP:0040283 - Occasional	105
HP:0002647	HP:0002647	Aortic dissection	0	PRKG1 CL E G H	5592	9414	OMIM:615436	AORTIC ANEURYSM, FAMILIAL THORACIC 8; AAT8		41
HP:0002647	HP:0002647	Aortic dissection	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	41
HP:0002647	HP:0002647	Aortic dissection	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0002647	HP:0002647	Aortic dissection	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040282 - Frequent	178
HP:0002647	HP:0002647	Aortic dissection	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	7
HP:0002647	HP:0002647	Aortic dissection	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040282 - Frequent	260
HP:0002647	HP:0002647	Aortic dissection	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	260
HP:0002647	HP:0002647	Aortic dissection	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0002647	HP:0002647	Aortic dissection	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	504
HP:0002647	HP:0002647	Aortic dissection	0	SMAD4 CL E G H	4089	6770	OMIM:175050	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	HP:0040284 - Very rare	504
HP:0002647	HP:0002647	Aortic dissection	0	SMAD6 CL E G H	4091	6772	ORPHA:402075	Familial bicuspid aortic valve		33
HP:0002647	HP:0002647	Aortic dissection	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	162
HP:0002647	HP:0002647	Aortic dissection	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0002647	HP:0002647	Aortic dissection	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	85
HP:0002647	HP:0002647	Aortic dissection	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0002647	HP:0002647	Aortic dissection	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	239
HP:0002647	HP:0002647	Aortic dissection	0	TGFBR1 CL E G H	7046	11772	ORPHA:60030	Loeys-Dietz syndrome	HP:0040281 - Very frequent	239
HP:0002647	HP:0002647	Aortic dissection	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0002647	HP:0002647	Aortic dissection	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	253
HP:0002647	HP:0002647	Aortic dissection	0	TGFBR2 CL E G H	7048	11773	ORPHA:60030	Loeys-Dietz syndrome	HP:0040281 - Very frequent	253
HP:0002647	HP:0002647	Aortic dissection	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0002647	HP:0002647	Aortic dissection	0	TGFBR3 CL E G H	7049	11774	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional	1
HP:0002647	HP:0002647	Aortic dissection	0	THSD1 CL E G H	55901	17754	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional	2
HP:0002647	HP:0002647	Aortic dissection	0	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12		2
HP:0002647	HP:0033311	Abdominal aortic dissection	1	CL E G H
HP:0002647	HP:0004933	Ascending aortic dissection	1	ACTA2 CL E G H	59	130	OMIM:611788	AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6		94
HP:0002647	HP:0012499	Descending aortic dissection	1	ACTA2 CL E G H	59	130	OMIM:611788	AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6		94
HP:0002647	HP:0004933	Ascending aortic dissection	1	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	94
HP:0002647	HP:0012499	Descending aortic dissection	1	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	94
HP:0002647	HP:0012499	Descending aortic dissection	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0002647	HP:0004933	Ascending aortic dissection	1	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0002647	HP:0012499	Descending aortic dissection	1	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	172
HP:0002647	HP:0004933	Ascending aortic dissection	1	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	172
HP:0002647	HP:0012499	Descending aortic dissection	1	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0002647	HP:0004933	Ascending aortic dissection	1	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0002647	HP:0012499	Descending aortic dissection	1	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	1361
HP:0002647	HP:0004933	Ascending aortic dissection	1	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	1361
HP:0002647	HP:0004933	Ascending aortic dissection	1	FBN1 CL E G H	2200	3603	OMIM:608328	Weill-Marchesani syndrome 2, dominant		1361
HP:0002647	HP:0012499	Descending aortic dissection	1	FOXE3 CL E G H	2301	3808	OMIM:617349	AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO; AAT11		23
HP:0002647	HP:0004933	Ascending aortic dissection	1	FOXE3 CL E G H	2301	3808	OMIM:617349	AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO; AAT11		23
HP:0002647	HP:0004933	Ascending aortic dissection	1	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	23
HP:0002647	HP:0012499	Descending aortic dissection	1	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	23
HP:0002647	HP:0004933	Ascending aortic dissection	1	GATA5 CL E G H	140628	15802	ORPHA:402075	Familial bicuspid aortic valve	HP:0040284 - Very rare	10
HP:0002647	HP:0012499	Descending aortic dissection	1	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent
HP:0002647	HP:0004933	Ascending aortic dissection	1	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent
HP:0002647	HP:0012499	Descending aortic dissection	1	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	6
HP:0002647	HP:0004933	Ascending aortic dissection	1	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	6
HP:0002647	HP:0004933	Ascending aortic dissection	1	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	13
HP:0002647	HP:0012499	Descending aortic dissection	1	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	13
HP:0002647	HP:0004933	Ascending aortic dissection	1	MFAP5 CL E G H	8076	29673	OMIM:616166	AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9		11
HP:0002647	HP:0012499	Descending aortic dissection	1	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	11
HP:0002647	HP:0004933	Ascending aortic dissection	1	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	11
HP:0002647	HP:0012499	Descending aortic dissection	1	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4		418
HP:0002647	HP:0004933	Ascending aortic dissection	1	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4		418
HP:0002647	HP:0004933	Ascending aortic dissection	1	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection	HP:0040282 - Frequent	418
HP:0002647	HP:0012499	Descending aortic dissection	1	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection	HP:0040282 - Frequent	418
HP:0002647	HP:0004933	Ascending aortic dissection	1	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	418
HP:0002647	HP:0012499	Descending aortic dissection	1	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	418
HP:0002647	HP:0004933	Ascending aortic dissection	1	MYLK CL E G H	4638	7590	OMIM:613780	AORTIC ANEURYSM, FAMILIAL THORACIC 7; AAT7		326
HP:0002647	HP:0012499	Descending aortic dissection	1	MYLK CL E G H	4638	7590	OMIM:613780	AORTIC ANEURYSM, FAMILIAL THORACIC 7; AAT7		326
HP:0002647	HP:0012499	Descending aortic dissection	1	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	326
HP:0002647	HP:0004933	Ascending aortic dissection	1	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	326
HP:0002647	HP:0004933	Ascending aortic dissection	1	NKX2-5 CL E G H	1482	2488	ORPHA:402075	Familial bicuspid aortic valve	HP:0040284 - Very rare	90
HP:0002647	HP:0004933	Ascending aortic dissection	1	NOTCH1 CL E G H	4851	7881	ORPHA:402075	Familial bicuspid aortic valve	HP:0040284 - Very rare	452
HP:0002647	HP:0004933	Ascending aortic dissection	1	PRKG1 CL E G H	5592	9414	OMIM:615436	AORTIC ANEURYSM, FAMILIAL THORACIC 8; AAT8		41
HP:0002647	HP:0012499	Descending aortic dissection	1	PRKG1 CL E G H	5592	9414	OMIM:615436	AORTIC ANEURYSM, FAMILIAL THORACIC 8; AAT8		41
HP:0002647	HP:0012499	Descending aortic dissection	1	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	41
HP:0002647	HP:0004933	Ascending aortic dissection	1	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	41
HP:0002647	HP:0004933	Ascending aortic dissection	1	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	7
HP:0002647	HP:0012499	Descending aortic dissection	1	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	7
HP:0002647	HP:0012499	Descending aortic dissection	1	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	260
HP:0002647	HP:0004933	Ascending aortic dissection	1	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	260
HP:0002647	HP:0004933	Ascending aortic dissection	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0002647	HP:0012499	Descending aortic dissection	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0002647	HP:0004933	Ascending aortic dissection	1	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	504
HP:0002647	HP:0012499	Descending aortic dissection	1	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	504
HP:0002647	HP:0004933	Ascending aortic dissection	1	SMAD6 CL E G H	4091	6772	ORPHA:402075	Familial bicuspid aortic valve	HP:0040284 - Very rare	33
HP:0002647	HP:0004933	Ascending aortic dissection	1	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	162
HP:0002647	HP:0012499	Descending aortic dissection	1	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	162
HP:0002647	HP:0012499	Descending aortic dissection	1	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	85
HP:0002647	HP:0004933	Ascending aortic dissection	1	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	85
HP:0002647	HP:0004933	Ascending aortic dissection	1	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0002647	HP:0012499	Descending aortic dissection	1	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	239
HP:0002647	HP:0004933	Ascending aortic dissection	1	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	239
HP:0002647	HP:0004933	Ascending aortic dissection	1	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0002647	HP:0004933	Ascending aortic dissection	1	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	253
HP:0002647	HP:0012499	Descending aortic dissection	1	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	253
HP:0002647	HP:0004933	Ascending aortic dissection	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0002647	HP:0012499	Descending aortic dissection	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0002647	HP:0004933	Ascending aortic dissection	1	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12		2