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 vascular morphology (HP:0025015)

Parent Node:
Abnormal systemic arterial morphology (HP:0011004)

Parent Node:
Vascular dilatation (HP:0002617)

..Starting node
..Dilatation of an abdominal artery (HP:0002636)

Term ID:

2636

Name:

Dilatation of an abdominal artery

Synonym:

Aneurysm of an abdominal artery

Definition:

Abnormal outpouching or sac-like dilatation in an artery that originates from the abdominal aorta.

Comments:

Reference:

HP:0002636

Genes and Diseases:

Child Nodes:

........

Dilatation of mesenteric artery (HP:0011934)

................... HP:0100859 Dilatation of superior mesenteric artery
................... HP:0100860 Dilatation of Inferior mesenteric artery

........

Dilatation of celiac artery (HP:0100858)

Sister Nodes:

Aortic aneurysm (HP:0004942)

Central fundal arteriolar microaneurysms (HP:0008014)

Dilatation of the cerebral artery (HP:0004944)

Dilatation of the ductus arteriosus (HP:0030745)

Dilatation of the ventricular cavity (HP:0006698)

Pseudoaneurysm (HP:0031625)

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:0002636	HP:0002636	Dilatation of an abdominal artery	0	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0002636	HP:0002636	Dilatation of an abdominal artery	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1		186
HP:0002636	HP:0002636	Dilatation of an abdominal artery	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0002636	HP:0100858	Dilatation of celiac artery	1	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0002636	HP:0011934	Dilatation of mesenteric artery	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0002636	HP:0100858	Dilatation of celiac artery	1	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0002636	HP:0011934	Dilatation of mesenteric artery	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0002636	HP:0100860	Dilatation of Inferior mesenteric artery	2	CL E G H
HP:0002636	HP:0100859	Dilatation of superior mesenteric artery	2	CL E G H

Genes (3) :COL5A1 ENG TGFBR2

Diseases (3) :OMIM:619329 OMIM:187300 OMIM:610168

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.