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:
Benign neoplasm of the central nervous system (HP:0100835)

Parent Node:
Meningioma (HP:0002858)

..Starting node
..Optic nerve sheath meningioma (HP:0500089)

Term ID:

500089

Name:

Optic nerve sheath meningioma

Synonym:

Definition:

A benign tumour of meningothelial cells of the meninges that usually occurs in middle age. It is typically unilateral and there is an association with neurofibromatosis type 2.

Comments:

Reference:

HP:0500089

Genes and Diseases:

Child Nodes:

Sister Nodes:

Intracranial meningioma (HP:0100009)

Spinal meningioma (HP:0100010)

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:0500089	HP:0500089	Optic nerve sheath meningioma	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.

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