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:
Brain neoplasm (HP:0030692)

Parent Node:
Neuroepithelial neoplasm (HP:0030063)

Parent Node:
Supratentorial neoplasm (HP:0030693)

..Starting node
..Pinealoma (HP:0010799)

Term ID:

10799

Name:

Pinealoma

Synonym:

Definition:

A neoplasm of the pineal gland.

Comments:

Reference:

HP:0010799

Genes and Diseases:

Child Nodes:

........

Pineal parenchymal cell neoplasm (HP:0030694)

................... HP:0030407 Pineocytoma
................... HP:0030408 Pineoblastoma

Sister Nodes:

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:0010799	HP:0010799	Pinealoma	0	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA	.	365
HP:0010799	HP:0030694	Pineal parenchymal cell neoplasm	1	CL E G H
HP:0010799	HP:0030408	Pineoblastoma	2	CL E G H
HP:0010799	HP:0030407	Pineocytoma	2	CL E G H

Genes (1) :RB1

Diseases (1) :OMIM:180200

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