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:
Vasculitis (HP:0002633)

..Starting node
..Large vessel vasculitis (HP:0005310)

Term ID:

5310

Name:

Large vessel vasculitis

Synonym:

Definition:

A type of vasculitis (inflammation of blood vessel walls) affecting large arteries such as the aorta and branches of the aorta.

Comments:

Reference:

HP:0005310

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cerebral vasculitis (HP:0005318)

Inflammatory arteriopathy (HP:0005291)

Nodular inflammatory vasculitis (HP:0005300)

Small vessel vasculitis (HP:0011944)

Vasculitis in the skin (HP:0200029)

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:0005310	HP:0005310	Large vessel vasculitis	0	NOD2 CL E G H	64127	5331	ORPHA:90340	Blau syndrome	HP:0040283 - Occasional	187
HP:0005310	HP:0005310	Large vessel vasculitis	0	WAS CL E G H	7454	12731	OMIM:301000	Wiskott-Aldrich syndrome	.	65

Genes (2) :NOD2 WAS

Diseases (2) :ORPHA:90340 OMIM:301000

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