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:
Neuroepithelial neoplasm (HP:0030063)

Parent Node:
Primitive neuroectodermal tumor (HP:0030065)

..Starting node
..Central primitive neuroectodermal tumor (HP:0030070)

Term ID:

30070

Name:

Central primitive neuroectodermal tumor

Synonym:

Central primitive neuroectodermal tumour

Definition:

A primitive neuroectodermal neoplasm that occurs in the central nervous system.

Comments:

Reference:

HP:0030070

Genes and Diseases:

Child Nodes:

........

Ependymoblastoma (HP:0030066)

........

Medulloepithelioma (HP:0030071)

Sister Nodes:

Peripheral primitive neuroectodermal neoplasm (HP:0030067)

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:0030070	HP:0030070	Central primitive neuroectodermal tumor	0	CDKN2A CL E G H	1029	1787	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	289
HP:0030070	HP:0030070	Central primitive neuroectodermal tumor	0	CHEK2 CL E G H	11200	16627	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	833
HP:0030070	HP:0030070	Central primitive neuroectodermal tumor	0	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter		670
HP:0030070	HP:0030070	Central primitive neuroectodermal tumor	0	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter
HP:0030070	HP:0030070	Central primitive neuroectodermal tumor	0	MDM2 CL E G H	4193	6973	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	1
HP:0030070	HP:0030070	Central primitive neuroectodermal tumor	0	TP53 CL E G H	7157	11998	ORPHA:524	Li-Fraumeni syndrome	HP:0040283 - Occasional	911
HP:0030070	HP:0030066	Ependymoblastoma	1	CL E G H
HP:0030070	HP:0030071	Medulloepithelioma	1	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter	HP:0040284 - Very rare	670
HP:0030070	HP:0030071	Medulloepithelioma	1	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter	HP:0040284 - Very rare

Genes (6) :CDKN2A CHEK2 DICER1 KEAP1 MDM2 TP53

Diseases (2) :ORPHA:524 ORPHA:276399

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