Human Phenotype Ontology

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

Grandparent Node:
Abnormal aortic morphology (HP:0001679)

Parent Node:
Aortic dissection (HP:0002647)

..Starting node
..Descending aortic dissection (HP:0012499)

Term ID:

12499

Name:

Descending aortic dissection

Synonym:

Type B aortic dissection

Definition:

A separation of the layers within the wall of the descending aorta. Tears in the intimal layer result in the propagation of dissection (proximally or distally) secondary to blood entering the intima-media space.

Comments:

Reference:

HP:0012499

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ascending aortic dissection (HP:0004933)

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:0012499	HP:0012499	Descending aortic dissection	0	ACTA2 CL E G H	59	130	OMIM:611788	AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6		94
HP:0012499	HP:0012499	Descending aortic dissection	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	94
HP:0012499	HP:0012499	Descending aortic dissection	0	COL3A1 CL E G H	1281	2201	OMIM:130050	Ehlers-Danlos syndrome, Vascular type		749
HP:0012499	HP:0012499	Descending aortic dissection	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	172
HP:0012499	HP:0012499	Descending aortic dissection	0	EMILIN1 CL E G H	11117	19880	OMIM:620080			2
HP:0012499	HP:0012499	Descending aortic dissection	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	1361
HP:0012499	HP:0012499	Descending aortic dissection	0	FOXE3 CL E G H	2301	3808	OMIM:617349	AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO; AAT11		23
HP:0012499	HP:0012499	Descending aortic dissection	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	23
HP:0012499	HP:0012499	Descending aortic dissection	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent
HP:0012499	HP:0012499	Descending aortic dissection	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	6
HP:0012499	HP:0012499	Descending aortic dissection	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	13
HP:0012499	HP:0012499	Descending aortic dissection	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	11
HP:0012499	HP:0012499	Descending aortic dissection	0	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4		418
HP:0012499	HP:0012499	Descending aortic dissection	0	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection	HP:0040282 - Frequent	418
HP:0012499	HP:0012499	Descending aortic dissection	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	418
HP:0012499	HP:0012499	Descending aortic dissection	0	MYLK CL E G H	4638	7590	OMIM:613780	AORTIC ANEURYSM, FAMILIAL THORACIC 7; AAT7		326
HP:0012499	HP:0012499	Descending aortic dissection	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	326
HP:0012499	HP:0012499	Descending aortic dissection	0	PRKG1 CL E G H	5592	9414	OMIM:615436	AORTIC ANEURYSM, FAMILIAL THORACIC 8; AAT8		41
HP:0012499	HP:0012499	Descending aortic dissection	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	41
HP:0012499	HP:0012499	Descending aortic dissection	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	7
HP:0012499	HP:0012499	Descending aortic dissection	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	260
HP:0012499	HP:0012499	Descending aortic dissection	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0012499	HP:0012499	Descending aortic dissection	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	504
HP:0012499	HP:0012499	Descending aortic dissection	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	162
HP:0012499	HP:0012499	Descending aortic dissection	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	85
HP:0012499	HP:0012499	Descending aortic dissection	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	239
HP:0012499	HP:0012499	Descending aortic dissection	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040282 - Frequent	253
HP:0012499	HP:0012499	Descending aortic dissection	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253

Genes (20) :ACTA2 COL3A1 ELN EMILIN1 FBN1 FOXE3 HEY2 LOX MAT2A MFAP5 MYH11 MYLK PRKG1 SMAD2 SMAD3 SMAD4 TGFB2 TGFB3 TGFBR1 TGFBR2

Diseases (11) :OMIM:611788 ORPHA:91387 OMIM:130050 OMIM:620080 OMIM:617349 OMIM:132900 ORPHA:229 OMIM:613780 OMIM:615436 OMIM:613795 OMIM:610168

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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