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:
Aortic aneurysm (HP:0004942)

Parent Node:
Thoracic aortic aneurysm (HP:0012727)

..Starting node
..Aortic arch aneurysm (HP:0005113)

Term ID:

5113

Name:

Aortic arch aneurysm

Synonym:

Aortic arch dilatation; Dilatation of the aortic arch

Definition:

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

Comments:

Reference:

HP:0005113

Genes and Diseases:

Child Nodes:

........

Fusiform aortic arch aneurysm (HP:0031646)

........

Saccular aortic arch aneurysm (HP:0031647)

Sister Nodes:

Aortic root aneurysm (HP:0002616)

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:0005113	HP:0005113	Aortic arch aneurysm	0	ACTA2 CL E G H	59	130	OMIM:613834	Multisystemic smooth muscle dysfunction syndrome		94
HP:0005113	HP:0005113	Aortic arch aneurysm	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005113	HP:0005113	Aortic arch aneurysm	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005113	HP:0005113	Aortic arch aneurysm	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005113	HP:0005113	Aortic arch aneurysm	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	3
HP:0005113	HP:0005113	Aortic arch aneurysm	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	515
HP:0005113	HP:0005113	Aortic arch aneurysm	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005113	HP:0005113	Aortic arch aneurysm	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005113	HP:0005113	Aortic arch aneurysm	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005113	HP:0005113	Aortic arch aneurysm	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0005113	HP:0005113	Aortic arch aneurysm	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005113	HP:0005113	Aortic arch aneurysm	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	10
HP:0005113	HP:0005113	Aortic arch aneurysm	0	GATA5 CL E G H	140628	15802	ORPHA:402075	Familial bicuspid aortic valve	HP:0040282 - Frequent	10
HP:0005113	HP:0005113	Aortic arch aneurysm	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0005113	HP:0005113	Aortic arch aneurysm	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0005113	HP:0005113	Aortic arch aneurysm	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0005113	HP:0005113	Aortic arch aneurysm	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	345
HP:0005113	HP:0005113	Aortic arch aneurysm	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	1
HP:0005113	HP:0005113	Aortic arch aneurysm	0	KCNH1 CL E G H	3756	6250	OMIM:135500	Zimmermann-Laband syndrome 1	.	13
HP:0005113	HP:0005113	Aortic arch aneurysm	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005113	HP:0005113	Aortic arch aneurysm	0	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10	HP:0040284 - Very rare	6
HP:0005113	HP:0005113	Aortic arch aneurysm	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0005113	HP:0005113	Aortic arch aneurysm	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0005113	HP:0005113	Aortic arch aneurysm	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0005113	HP:0005113	Aortic arch aneurysm	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0005113	HP:0005113	Aortic arch aneurysm	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0005113	HP:0005113	Aortic arch aneurysm	0	NKX2-5 CL E G H	1482	2488	ORPHA:402075	Familial bicuspid aortic valve	HP:0040282 - Frequent	90
HP:0005113	HP:0005113	Aortic arch aneurysm	0	NOTCH1 CL E G H	4851	7881	ORPHA:402075	Familial bicuspid aortic valve	HP:0040282 - Frequent	452
HP:0005113	HP:0005113	Aortic arch aneurysm	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0005113	HP:0005113	Aortic arch aneurysm	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	148
HP:0005113	HP:0005113	Aortic arch aneurysm	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0005113	HP:0005113	Aortic arch aneurysm	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	16
HP:0005113	HP:0005113	Aortic arch aneurysm	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005113	HP:0005113	Aortic arch aneurysm	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040282 - Frequent	16
HP:0005113	HP:0005113	Aortic arch aneurysm	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	150
HP:0005113	HP:0005113	Aortic arch aneurysm	0	SMAD6 CL E G H	4091	6772	ORPHA:402075	Familial bicuspid aortic valve	HP:0040282 - Frequent	33
HP:0005113	HP:0005113	Aortic arch aneurysm	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional	4
HP:0005113	HP:0005113	Aortic arch aneurysm	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005113	HP:0005113	Aortic arch aneurysm	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005113	HP:0005113	Aortic arch aneurysm	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0005113	HP:0005113	Aortic arch aneurysm	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005113	HP:0005113	Aortic arch aneurysm	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040283 - Occasional
HP:0005113	HP:0005113	Aortic arch aneurysm	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0005113	HP:0031647	Saccular aortic arch aneurysm	1	CL E G H
HP:0005113	HP:0031646	Fusiform aortic arch aneurysm	1	CL E G H

Genes (43) :ACTA2 BAZ1B BCL7B BUD23 CASZ1 CHD7 CLIP2 DNAJC30 EIF4H ELN FKBP6 GABRD GATA5 GTF2I GTF2IRD1 GTF2IRD2 HSPG2 KCNAB2 KCNH1 LIMK1 LOX LUZP1 METTL27 MLXIPL MMP23B NCF1 NKX2-5 NOTCH1 PDPN PRDM16 PRKCZ RERE RFC2 SEMA3E SKI SMAD6 SPEN STX1A TBL2 TGFBR2 TMEM270 UBE4B VPS37D

Diseases (8) :OMIM:613834 ORPHA:904 ORPHA:1606 ORPHA:138 ORPHA:402075 OMIM:135500 OMIM:617168 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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