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:
Venous insufficiency (HP:0005293)

Parent Node:
Varicose veins (HP:0002619)

..Starting node
..Venous varicosities of celiac and mesenteric vessels (HP:0002626)

Term ID:

2626

Name:

Venous varicosities of celiac and mesenteric vessels

Synonym:

Venous varicosities of coeliac and mesenteric vessels

Definition:

Elongated and tortuous mesenteric veins, which comprise the inferior mesenteric vein and the superior mesenteric vein.

Comments:

Reference:

HP:0002626

Genes and Diseases:

Child Nodes:

Sister Nodes:

Vulval varicose vein (HP:0100677)

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:0002626	HP:0002626	Venous varicosities of celiac and mesenteric vessels	0	ENG CL E G H	2022	3349	OMIM:187300	Telangiectasia, hereditary hemorrhagic, type 1	.	186

Genes (1) :ENG

Diseases (1) :OMIM:187300

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