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:
Neoplasm of the central nervous system (HP:0100006)

Parent Node:
Brain neoplasm (HP:0030692)

..Starting node
..Supratentorial neoplasm (HP:0030693)

Term ID:

30693

Name:

Supratentorial neoplasm

Synonym:

Pineal parenchymal tumor; Pineal parenchymal tumour

Definition:

A benign or malignant neoplasm that occurs within the intracranial cavity above the tentorium cerebelli.

Comments:

Reference:

HP:0030693

Genes and Diseases:

Child Nodes:

........

Pinealoma (HP:0010799)

................... HP:0030694 Pineal parenchymal cell neoplasm

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:0030693	HP:0030693	Supratentorial neoplasm	0	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA		365
HP:0030693	HP:0030693	Supratentorial neoplasm	0	RELA CL E G H	5970	9955	ORPHA:251636	Ependymoma	HP:0040283 - Occasional	1
HP:0030693	HP:0030693	Supratentorial neoplasm	0	ZFTA CL E G H	65998	28449	ORPHA:251636	Ependymoma	HP:0040283 - Occasional
HP:0030693	HP:0010799	Pinealoma	1	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA	.	365
HP:0030693	HP:0030694	Pineal parenchymal cell neoplasm	2	CL E G H
HP:0030693	HP:0030408	Pineoblastoma	3	CL E G H
HP:0030693	HP:0030407	Pineocytoma	3	CL E G H

Genes (3) :RB1 RELA ZFTA

Diseases (2) :OMIM:180200 ORPHA:251636

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