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:
Primitive neuroectodermal tumor (HP:0030065)

Parent Node:
Central primitive neuroectodermal tumor (HP:0030070)

..Starting node
..Medulloepithelioma (HP:0030071)

Term ID:

30071

Name:

Medulloepithelioma

Synonym:

Definition:

A primitive neuroectodermal tumor that originates from the cells of the embryonic medullary canal.

Comments:

Reference:

HP:0030071

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ependymoblastoma (HP:0030066)

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:0030071	HP:0030071	Medulloepithelioma	0	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter	HP:0040284 - Very rare	670
HP:0030071	HP:0030071	Medulloepithelioma	0	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter	HP:0040284 - Very rare

Genes (2) :DICER1 KEAP1

Diseases (1) :ORPHA:276399

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