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:
Aortic aneurysm (HP:0004942)

Parent Node:
Thoracic aortic aneurysm (HP:0012727)

..Starting node
..Ascending tubular aorta aneurysm (HP:0004970)

Term ID:

4970

Name:

Ascending tubular aorta aneurysm

Synonym:

Aneurysm of the ascending tubular aorta; Ascending aorta dilation; Ascending aortic aneurysm; Ascending aortic dilation; Bulging of wall of large artery located above heart; Dilatation of ascending aorta

Definition:

An abnormal localized widening (dilatation) of the tubular part of the ascending aorta.

Comments:

Reference:

HP:0004970

Genes and Diseases:

Child Nodes:

........

Dilatation of the sinus of Valsalva (HP:0011645)

........

Fusiform ascending tubular aorta aneurysm (HP:0031643)

Sister Nodes:

Aortic arch aneurysm (HP:0005113)

Aortic root aneurysm (HP:0002616)

Descending thoracic aorta aneurysm (HP:0004959)

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:0004970	HP:0004970	Ascending tubular aorta aneurysm	0	ACTA2 CL E G H	59	130	OMIM:611788	AORTIC ANEURYSM, FAMILIAL THORACIC 6; AAT6		94
HP:0004970	HP:0004970	Ascending tubular aorta aneurysm	0	ACTA2 CL E G H	59	130	OMIM:614042	Moyamoya disease 5	.	94
HP:0004970	HP:0004970	Ascending tubular aorta aneurysm	0	ADAMTS19 CL E G H	171019	17111	OMIM:620067			1
HP:0004970	HP:0004970	Ascending tubular aorta aneurysm	0	ATP6V1A CL E G H	523	851	OMIM:617403	Cutis laxa, autosomal recessive, type IID		3
HP:0004970	HP:0004970	Ascending tubular aorta aneurysm	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional	38
HP:0004970	HP:0004970	Ascending tubular aorta aneurysm	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional	7
HP:0004970	HP:0004970	Ascending tubular aorta aneurysm	0	COL3A1 CL E G H	1281	2201	ORPHA:286	Vascular Ehlers-Danlos syndrome	HP:0040283 - Occasional	749
HP:0004970	HP:0004970	Ascending tubular aorta aneurysm	0	FBLN5 CL E G H	10516	3602	OMIM:219100	Cutis laxa, autosomal recessive, type IA	.	63
HP:0004970	HP:0004970	Ascending tubular aorta aneurysm	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome	.	1361
HP:0004970	HP:0004970	Ascending tubular aorta aneurysm	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent	1361
HP:0004970	HP:0004970	Ascending tubular aorta aneurysm	0	FMR1 CL E G H	2332	3775	ORPHA:908	Fragile X syndrome	HP:0040283 - Occasional	30
HP:0004970	HP:0004970	Ascending tubular aorta aneurysm	0	GJA5 CL E G H	2702	4279	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		39
HP:0004970	HP:0004970	Ascending tubular aorta aneurysm	0	GJA8 CL E G H	2703	4281	OMIM:612474	Chromosome 1q21.1 deletion syndrome, 1.35-mb		34
HP:0004970	HP:0004970	Ascending tubular aorta aneurysm	0	HLA-B CL E G H	3106	4932	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent	4
HP:0004970	HP:0004970	Ascending tubular aorta aneurysm	0	IL12B CL E G H	3593	5970	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent	31
HP:0004970	HP:0004970	Ascending tubular aorta aneurysm	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0004970	HP:0004970	Ascending tubular aorta aneurysm	0	LMNA CL E G H	4000	6636	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	645
HP:0004970	HP:0004970	Ascending tubular aorta aneurysm	0	MED12 CL E G H	9968	11957	OMIM:309520	Lujan-Fryns syndrome	.	228
HP:0004970	HP:0004970	Ascending tubular aorta aneurysm	0	MLX CL E G H	6945	11645	ORPHA:3287	Takayasu arteritis	HP:0040282 - Frequent
HP:0004970	HP:0004970	Ascending tubular aorta aneurysm	0	MYH11 CL E G H	4629	7569	OMIM:132900	Aortic aneurysm, familial thoracic 4		418
HP:0004970	HP:0004970	Ascending tubular aorta aneurysm	0	NODAL CL E G H	4838	7865	OMIM:270100	Heterotaxy, visceral, 5		45
HP:0004970	HP:0004970	Ascending tubular aorta aneurysm	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome		260
HP:0004970	HP:0004970	Ascending tubular aorta aneurysm	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0004970	HP:0004970	Ascending tubular aorta aneurysm	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0004970	HP:0004970	Ascending tubular aorta aneurysm	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2	.	253
HP:0004970	HP:0004970	Ascending tubular aorta aneurysm	0	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12		2
HP:0004970	HP:0004970	Ascending tubular aorta aneurysm	0	ZMPSTE24 CL E G H	10269	12877	ORPHA:1662	Restrictive dermopathy	HP:0040283 - Occasional	83
HP:0004970	HP:0031643	Fusiform ascending tubular aorta aneurysm	1	CL E G H
HP:0004970	HP:0011645	Dilatation of the sinus of Valsalva	1	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040281 - Very frequent	260
HP:0004970	HP:0011645	Dilatation of the sinus of Valsalva	1	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260

Genes (24) :ACTA2 ADAMTS19 ATP6V1A B3GALT6 BRF1 COL3A1 FBLN5 FBN1 FMR1 GJA5 GJA8 HLA-B IL12B IPO8 LMNA MED12 MLX MYH11 NODAL SMAD3 TGFB2 TGFBR2 THSD4 ZMPSTE24

Diseases (23) :OMIM:611788 OMIM:614042 OMIM:620067 OMIM:617403 ORPHA:536467 ORPHA:444072 ORPHA:286 OMIM:219100 OMIM:154700 ORPHA:284979 ORPHA:908 OMIM:612474 ORPHA:3287 OMIM:619472 ORPHA:1662 OMIM:309520 OMIM:132900 OMIM:270100 ORPHA:284984 OMIM:613795 OMIM:614816 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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