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
..Aortic root aneurysm (HP:0002616)

Term ID:

2616

Name:

Aortic root aneurysm

Synonym:

Aortic root dilatation; Bulge in wall of root of large artery that carries blood away from heart; Increased aortic root diameter

Definition:

An abnormal localized widening (dilatation) of the aortic root.

Comments:

Reference:

HP:0002616

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aortic arch aneurysm (HP:0005113)

Ascending tubular aorta aneurysm (HP:0004970)

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:0002616	HP:0002616	Aortic root aneurysm	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	94
HP:0002616	HP:0002616	Aortic root aneurysm	0	AEBP1 CL E G H	165	303	ORPHA:536532	Classical-like Ehlers-Danlos syndrome type 2	HP:0040283 - Occasional
HP:0002616	HP:0002616	Aortic root aneurysm	0	AEBP1 CL E G H	165	303	OMIM:618000	Ehlers-Danlos syndrome, classic-like, 2
HP:0002616	HP:0002616	Aortic root 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	HP:0040283 - Occasional	6
HP:0002616	HP:0002616	Aortic root aneurysm	0	ALDH1A2 CL E G H	8854	15472	OMIM:620025
HP:0002616	HP:0002616	Aortic root aneurysm	0	ALG5 CL E G H	29880	20266	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional
HP:0002616	HP:0002616	Aortic root aneurysm	0	ALG9 CL E G H	79796	15672	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	93
HP:0002616	HP:0002616	Aortic root aneurysm	0	ANGPTL6 CL E G H	83854	23140	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional
HP:0002616	HP:0002616	Aortic root aneurysm	0	ATP2B1 CL E G H	490	814	OMIM:619910
HP:0002616	HP:0002616	Aortic root aneurysm	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional	38
HP:0002616	HP:0002616	Aortic root 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:0002616	HP:0002616	Aortic root aneurysm	0	BICC1 CL E G H	80114	19351	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	5
HP:0002616	HP:0002616	Aortic root aneurysm	0	CARS1 CL E G H	833	1493	OMIM:618891	MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME; MDBH
HP:0002616	HP:0002616	Aortic root 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:0002616	HP:0002616	Aortic root aneurysm	0	COL1A1 CL E G H	1277	2197	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	373
HP:0002616	HP:0002616	Aortic root aneurysm	0	COL1A2 CL E G H	1278	2198	ORPHA:230851	Cardiac-valvular Ehlers-Danlos syndrome	HP:0040282 - Frequent	243
HP:0002616	HP:0002616	Aortic root aneurysm	0	COL3A1 CL E G H	1281	2201	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional	749
HP:0002616	HP:0002616	Aortic root aneurysm	0	COL5A1 CL E G H	1289	2209	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	660
HP:0002616	HP:0002616	Aortic root aneurysm	0	COL5A1 CL E G H	1289	2209	OMIM:130000	Ehlers-danlos syndrome, type I		660
HP:0002616	HP:0002616	Aortic root aneurysm	0	COL5A2 CL E G H	1290	2210	ORPHA:287	Classical Ehlers-Danlos syndrome	HP:0040283 - Occasional	325
HP:0002616	HP:0002616	Aortic root aneurysm	0	DNAJB11 CL E G H	51726	14889	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional
HP:0002616	HP:0002616	Aortic root aneurysm	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040284 - Very rare	44
HP:0002616	HP:0002616	Aortic root aneurysm	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	172
HP:0002616	HP:0002616	Aortic root aneurysm	0	ENG CL E G H	2022	3349	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional	186
HP:0002616	HP:0002616	Aortic root aneurysm	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	199
HP:0002616	HP:0002616	Aortic root aneurysm	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040284 - Very rare	55
HP:0002616	HP:0002616	Aortic root aneurysm	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	1361
HP:0002616	HP:0002616	Aortic root aneurysm	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome		1361
HP:0002616	HP:0002616	Aortic root aneurysm	0	FBN1 CL E G H	2200	3603	OMIM:154700	Marfan syndrome		1361
HP:0002616	HP:0002616	Aortic root aneurysm	0	FBN1 CL E G H	2200	3603	ORPHA:284979	Neonatal Marfan syndrome	HP:0040281 - Very frequent	1361
HP:0002616	HP:0002616	Aortic root aneurysm	0	FBN2 CL E G H	2201	3604	OMIM:121050	Contractural arachnodactyly, congenital	.	655
HP:0002616	HP:0002616	Aortic root aneurysm	0	FMR1 CL E G H	2332	3775	ORPHA:449291	Symptomatic form of fragile X syndrome in female carriers	HP:0040284 - Very rare	30
HP:0002616	HP:0002616	Aortic root aneurysm	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	23
HP:0002616	HP:0002616	Aortic root aneurysm	0	GANAB CL E G H	23193	4138	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	6
HP:0002616	HP:0002616	Aortic root aneurysm	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0002616	HP:0002616	Aortic root aneurysm	0	IFT140 CL E G H	9742	29077	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	148
HP:0002616	HP:0002616	Aortic root aneurysm	0	IPO8 CL E G H	10526	9853	OMIM:619472	VISS syndrome
HP:0002616	HP:0002616	Aortic root aneurysm	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0002616	HP:0002616	Aortic root aneurysm	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.	13
HP:0002616	HP:0002616	Aortic root aneurysm	0	LMNA CL E G H	4000	6636	ORPHA:363618	LMNA-related cardiocutaneous progeria syndrome	HP:0040281 - Very frequent	645
HP:0002616	HP:0002616	Aortic root aneurysm	0	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10	.	6
HP:0002616	HP:0002616	Aortic root aneurysm	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	6
HP:0002616	HP:0002616	Aortic root aneurysm	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	13
HP:0002616	HP:0002616	Aortic root aneurysm	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	11
HP:0002616	HP:0002616	Aortic root aneurysm	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0002616	HP:0002616	Aortic root aneurysm	0	MYH11 CL E G H	4629	7569	ORPHA:229	Familial aortic dissection	HP:0040282 - Frequent	418
HP:0002616	HP:0002616	Aortic root aneurysm	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	418
HP:0002616	HP:0002616	Aortic root aneurysm	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	326
HP:0002616	HP:0002616	Aortic root aneurysm	0	MYPN CL E G H	84665	23246	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	217
HP:0002616	HP:0002616	Aortic root aneurysm	0	NKAP CL E G H	79576	29873	OMIM:301039	INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE; MRXSHD
HP:0002616	HP:0002616	Aortic root aneurysm	0	NPR3 CL E G H	4883	7945	OMIM:619543	BOUDIN-MORTIER SYNDROME; BOMOS
HP:0002616	HP:0002616	Aortic root aneurysm	0	PGM3 CL E G H	5238	8907	OMIM:615816	Immunodeficiency 23		15
HP:0002616	HP:0002616	Aortic root aneurysm	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0002616	HP:0002616	Aortic root aneurysm	0	PKD1 CL E G H	5310	9008	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	342
HP:0002616	HP:0002616	Aortic root aneurysm	0	PKD2 CL E G H	5311	9009	ORPHA:730	Autosomal dominant polycystic kidney disease	HP:0040283 - Occasional	106
HP:0002616	HP:0002616	Aortic root aneurysm	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0002616	HP:0002616	Aortic root aneurysm	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	41
HP:0002616	HP:0002616	Aortic root aneurysm	0	ROBO4 CL E G H	54538	17985	OMIM:618496	Aortic valve disease 3	.
HP:0002616	HP:0002616	Aortic root aneurysm	0	SLC2A10 CL E G H	81031	13444	ORPHA:3342	Arterial tortuosity syndrome	HP:0040281 - Very frequent	178
HP:0002616	HP:0002616	Aortic root aneurysm	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	7
HP:0002616	HP:0002616	Aortic root aneurysm	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	260
HP:0002616	HP:0002616	Aortic root aneurysm	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	504
HP:0002616	HP:0002616	Aortic root aneurysm	0	SPECC1L CL E G H	23384	29022	OMIM:145420	Hypertelorism, Teebi type		6
HP:0002616	HP:0002616	Aortic root aneurysm	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	162
HP:0002616	HP:0002616	Aortic root aneurysm	0	TGFB2 CL E G H	7042	11768	OMIM:614816	LOEYS-DIETZ SYNDROME 4; LDS4		162
HP:0002616	HP:0002616	Aortic root aneurysm	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	85
HP:0002616	HP:0002616	Aortic root aneurysm	0	TGFB3 CL E G H	7043	11769	OMIM:615582	LOEYS-DIETZ SYNDROME 5; LDS5		85
HP:0002616	HP:0002616	Aortic root aneurysm	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	239
HP:0002616	HP:0002616	Aortic root aneurysm	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0002616	HP:0002616	Aortic root aneurysm	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	253
HP:0002616	HP:0002616	Aortic root aneurysm	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0002616	HP:0002616	Aortic root aneurysm	0	TGFBR3 CL E G H	7049	11774	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional	1
HP:0002616	HP:0002616	Aortic root aneurysm	0	THSD1 CL E G H	55901	17754	ORPHA:231160	Familial cerebral saccular aneurysm	HP:0040283 - Occasional	2
HP:0002616	HP:0002616	Aortic root aneurysm	0	THSD4 CL E G H	79875	25835	OMIM:619825	AORTIC ANEURYSM, FAMILIAL THORACIC 12; AAT12		2
HP:0002616	HP:0002616	Aortic root aneurysm	0	TPM2 CL E G H	7169	12011	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	54
HP:0002616	HP:0002616	Aortic root aneurysm	0	TPM3 CL E G H	7170	12012	ORPHA:171881	Cap myopathy	HP:0040283 - Occasional	108

Genes (65) :ACTA2 AEBP1 AFF4 ALDH1A2 ALG5 ALG9 ANGPTL6 ATP2B1 B3GALT6 B3GAT3 BICC1 CARS1 CHST3 COL1A1 COL1A2 COL3A1 COL5A1 COL5A2 DNAJB11 DNMT3A ELN ENG ERCC6 ERCC8 FBN1 FBN2 FMR1 FOXE3 GANAB HEY2 IFT140 IPO8 KANSL1 KCNH1 LMNA LOX MAT2A MFAP5 MID1 MYH11 MYLK MYPN NKAP NPR3 PGM3 PIGN PKD1 PKD2 PPP1CB PRKG1 ROBO4 SLC2A10 SMAD2 SMAD3 SMAD4 SPECC1L TGFB2 TGFB3 TGFBR1 TGFBR2 TGFBR3 THSD1 THSD4 TPM2 TPM3

Diseases (42) :ORPHA:91387 ORPHA:536532 OMIM:618000 ORPHA:444077 OMIM:620025 ORPHA:730 ORPHA:231160 OMIM:619910 ORPHA:536467 OMIM:245600 OMIM:618891 ORPHA:287 ORPHA:230851 OMIM:130000 ORPHA:404443 ORPHA:90324 OMIM:616914 OMIM:154700 ORPHA:284979 OMIM:121050 ORPHA:449291 OMIM:619472 OMIM:610443 OMIM:135500 ORPHA:363618 OMIM:617168 ORPHA:2745 ORPHA:229 ORPHA:171881 OMIM:301039 OMIM:619543 OMIM:615816 ORPHA:280633 OMIM:617506 OMIM:618496 ORPHA:3342 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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