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 cerebral vascular morphology (HP:0100659)

Parent Node:
Vasculitis (HP:0002633)

..Starting node
..Cerebral vasculitis (HP:0005318)

Term ID:

5318

Name:

Cerebral vasculitis

Synonym:

Definition:

Inflammation of the blood vessels within the brain.

Comments:

Reference:

HP:0005318

Genes and Diseases:

Child Nodes:

Sister Nodes:

Inflammatory arteriopathy (HP:0005291)

Large vessel vasculitis (HP:0005310)

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:0005318	HP:0005318	Cerebral vasculitis	0	DOCK8 CL E G H	81704	19191	OMIM:243700	Hyper-Ige recurrent infection syndrome, autosomal recessive	.	217
HP:0005318	HP:0005318	Cerebral vasculitis	0	PNP CL E G H	4860	7892	OMIM:613179	Immunodeficiency due to purine nucleoside phosphorylase deficiency	.	52
HP:0005318	HP:0005318	Cerebral vasculitis	0	POLR3F CL E G H	10621	15763	OMIM:619872

Genes (3) :DOCK8 PNP POLR3F

Diseases (3) :OMIM:243700 OMIM:613179 OMIM:619872

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