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 systemic arterial morphology (HP:0011004)

Grandparent Node:
Vascular dilatation (HP:0002617)

Parent Node:
Dilatation of an abdominal artery (HP:0002636)

..Starting node
..Dilatation of mesenteric artery (HP:0011934)

Term ID:

11934

Name:

Dilatation of mesenteric artery

Synonym:

Mesenteric artery aneurysm

Definition:

Abnormal outpouching or sac-like dilatation in the wall of the inferior mesenteric artery or superior mesenteric artery .

Comments:

Reference:

HP:0011934

Genes and Diseases:

Child Nodes:

........

Dilatation of superior mesenteric artery (HP:0100859)

........

Dilatation of Inferior mesenteric artery (HP:0100860)

Sister Nodes:

Dilatation of celiac artery (HP:0100858)

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:0011934	HP:0011934	Dilatation of mesenteric artery	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186
HP:0011934	HP:0011934	Dilatation of mesenteric artery	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0011934	HP:0100860	Dilatation of Inferior mesenteric artery	1	CL E G H
HP:0011934	HP:0100859	Dilatation of superior mesenteric artery	1	CL E G H

Genes (2) :ENG TGFBR2

Diseases (2) :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.