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:
Abnormal aortic morphology (HP:0001679)

Grandparent Node:
Vascular dilatation (HP:0002617)

Parent Node:
Aortic aneurysm (HP:0004942)

..Starting node
..Abdominal aortic aneurysm (HP:0005112)

Term ID:

5112

Name:

Abdominal aortic aneurysm

Synonym:

Dilatation of the abdominal aorta

Definition:

An abnormal localized widening (dilatation) of the abdominal aorta.

Comments:

Reference:

HP:0005112

Genes and Diseases:

Child Nodes:

........

Fusiform abdominal aortic aneurysm (HP:0031644)

........

Saccular abdominal aortic aneurysm (HP:0031645)

........

Asymmetric abdominal aortic aneurysm (HP:0031711)

Sister Nodes:

Thoracic aortic aneurysm (HP:0012727)

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:0005112	HP:0005112	Abdominal aortic aneurysm	0	ACTA2 CL E G H	59	130	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	94
HP:0005112	HP:0005112	Abdominal aortic aneurysm	0	ELN CL E G H	2006	3327	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	172
HP:0005112	HP:0005112	Abdominal aortic aneurysm	0	FBN1 CL E G H	2200	3603	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	1361
HP:0005112	HP:0005112	Abdominal aortic aneurysm	0	FOXE3 CL E G H	2301	3808	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	23
HP:0005112	HP:0005112	Abdominal aortic aneurysm	0	HEY2 CL E G H	23493	4881	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional
HP:0005112	HP:0005112	Abdominal aortic aneurysm	0	HLA-B CL E G H	3106	4932	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	4
HP:0005112	HP:0005112	Abdominal aortic aneurysm	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	2
HP:0005112	HP:0005112	Abdominal aortic aneurysm	0	LOX CL E G H	4015	6664	OMIM:617168	Aortic aneurysm, familial thoracic 10	HP:0040283 - Occasional	6
HP:0005112	HP:0005112	Abdominal aortic aneurysm	0	LOX CL E G H	4015	6664	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	6
HP:0005112	HP:0005112	Abdominal aortic aneurysm	0	MAT2A CL E G H	4144	6904	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	13
HP:0005112	HP:0005112	Abdominal aortic aneurysm	0	MFAP5 CL E G H	8076	29673	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	11
HP:0005112	HP:0005112	Abdominal aortic aneurysm	0	MYH11 CL E G H	4629	7569	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	418
HP:0005112	HP:0005112	Abdominal aortic aneurysm	0	MYLK CL E G H	4638	7590	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	326
HP:0005112	HP:0005112	Abdominal aortic aneurysm	0	NSMCE2 CL E G H	286053	26513	OMIM:617253	Seckel syndrome 10	.	2
HP:0005112	HP:0005112	Abdominal aortic aneurysm	0	P4HA2 CL E G H	8974	8547	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0005112	HP:0005112	Abdominal aortic aneurysm	0	PRKG1 CL E G H	5592	9414	OMIM:615436	AORTIC ANEURYSM, FAMILIAL THORACIC 8; AAT8		41
HP:0005112	HP:0005112	Abdominal aortic aneurysm	0	PRKG1 CL E G H	5592	9414	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	41
HP:0005112	HP:0005112	Abdominal aortic aneurysm	0	PTPN22 CL E G H	26191	9652	ORPHA:397	Giant cell arteritis	HP:0040283 - Occasional	3
HP:0005112	HP:0005112	Abdominal aortic aneurysm	0	SMAD2 CL E G H	4087	6768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	7
HP:0005112	HP:0005112	Abdominal aortic aneurysm	0	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6		7
HP:0005112	HP:0005112	Abdominal aortic aneurysm	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040283 - Occasional	260
HP:0005112	HP:0005112	Abdominal aortic aneurysm	0	SMAD3 CL E G H	4088	6769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	260
HP:0005112	HP:0005112	Abdominal aortic aneurysm	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0005112	HP:0005112	Abdominal aortic aneurysm	0	SMAD4 CL E G H	4089	6770	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	504
HP:0005112	HP:0005112	Abdominal aortic aneurysm	0	TGFB2 CL E G H	7042	11768	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	162
HP:0005112	HP:0005112	Abdominal aortic aneurysm	0	TGFB3 CL E G H	7043	11769	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	85
HP:0005112	HP:0005112	Abdominal aortic aneurysm	0	TGFBR1 CL E G H	7046	11772	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	239
HP:0005112	HP:0005112	Abdominal aortic aneurysm	0	TGFBR2 CL E G H	7048	11773	ORPHA:91387	Familial thoracic aortic aneurysm and aortic dissection	HP:0040283 - Occasional	253
HP:0005112	HP:0005112	Abdominal aortic aneurysm	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0005112	HP:0031711	Asymmetric abdominal aortic aneurysm	1	CL E G H
HP:0005112	HP:0031645	Saccular abdominal aortic aneurysm	1	CL E G H
HP:0005112	HP:0031644	Fusiform abdominal aortic aneurysm	1	CL E G H

Genes (23) :ACTA2 ELN FBN1 FOXE3 HEY2 HLA-B HLA-DRB1 LOX MAT2A MFAP5 MYH11 MYLK NSMCE2 P4HA2 PRKG1 PTPN22 SMAD2 SMAD3 SMAD4 TGFB2 TGFB3 TGFBR1 TGFBR2

Diseases (9) :ORPHA:91387 ORPHA:397 OMIM:617168 OMIM:617253 OMIM:615436 OMIM:619656 ORPHA:284984 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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