Human Phenotype Ontology

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 systemic arterial morphology (HP:0011004)

Grandparent Node:
Vascular dilatation (HP:0002617)

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

..Starting node
..Dilatation of celiac artery (HP:0100858)

Term ID:

100858

Name:

Dilatation of celiac artery

Synonym:

Celiac artery aneurysm; Coeliac artery aneurysm; Dilatation of coeliac artery

Definition:

Abnormal outpouching or sac-like dilatation in the wall of the celiac artery.

Comments:

Reference:

HP:0100858

Genes and Diseases:

Child Nodes:

Sister Nodes:

Dilatation of mesenteric artery (HP:0011934)

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:0100858	HP:0100858	Dilatation of celiac artery	0	COL5A1 CL E G H	1289	2209	OMIM:619329	FIBROMUSCULAR DYSPLASIA, MULTIFOCAL; FMDMF		660
HP:0100858	HP:0100858	Dilatation of celiac artery	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186

Genes (2) :COL5A1 ENG

Diseases (2) :OMIM:619329 OMIM:187300

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