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:
Abnormality of the vestibulocochlear nerve (HP:0009591)

Grandparent Node:
Neoplasm of the inner ear (HP:0040096)

Grandparent Node:
Schwannoma (HP:0100008)

Parent Node:
Vestibular schwannoma (HP:0009588)

..Starting node
..Unilateral vestibular schwannoma (HP:0009590)

Term ID:

9590

Name:

Unilateral vestibular schwannoma

Synonym:

Definition:

A unilateral vestibular Schwannoma (acoustic neurinoma).

Comments:

Reference:

HP:0009590

Genes and Diseases:

Child Nodes:

Sister Nodes:

Bilateral vestibular schwannoma (HP:0009589)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0009590	HP:0009590	Unilateral vestibular schwannoma	0	NF2 CL E G H	4771	7773	OMIM:101000	Neurofibromatosis, type II	220

Genes (1) :NF2

Diseases (1) :OMIM:101000

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