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 glial cell morphology (HP:0100705)

Grandparent Node:
Malignant neoplasm of the central nervous system (HP:0100836)

Grandparent Node:
Neuroepithelial neoplasm (HP:0030063)

Parent Node:
Glioma (HP:0009733)

..Starting node
..Optic nerve glioma (HP:0009734)

Term ID:

9734

Name:

Optic nerve glioma

Synonym:

Optic glioma

Definition:

A glioma originating in the optic nerve or optic chiasm.

Comments:

Reference:

HP:0009734

Genes and Diseases:

Child Nodes:

Sister Nodes:

Astrocytoma (HP:0009592)

Brainstem glioma (HP:0010796)

Cerebellar glioma (HP:0010795)

Ependymoma (HP:0002888)

Glioblastoma multiforme (HP:0012174)

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:0009734	HP:0009734	Optic nerve glioma	0	IFNG CL E G H	3458	5438	OMIM:613254	Tuberous sclerosis-2	.	23
HP:0009734	HP:0009734	Optic nerve glioma	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040283 - Occasional	1952
HP:0009734	HP:0009734	Optic nerve glioma	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040283 - Occasional	1952
HP:0009734	HP:0009734	Optic nerve glioma	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I		1952
HP:0009734	HP:0009734	Optic nerve glioma	0	NF1 CL E G H	4763	7765	OMIM:601321	Neurofibromatosis-Noonan syndrome		1952
HP:0009734	HP:0009734	Optic nerve glioma	0	TSC1 CL E G H	7248	12362	OMIM:191100	Tuberous sclerosis-1	.	1090
HP:0009734	HP:0009734	Optic nerve glioma	0	TSC2 CL E G H	7249	12363	OMIM:613254	Tuberous sclerosis-2	.	2738

Genes (4) :IFNG NF1 TSC1 TSC2

Diseases (6) :OMIM:613254 ORPHA:97685 ORPHA:363700 OMIM:162200 OMIM:601321 OMIM:191100

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