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

Parent Node:
Medulloblastoma (HP:0002885)

..Starting node
..Cerebellar medulloblastoma (HP:0007129)

Term ID:

7129

Name:

Cerebellar medulloblastoma

Synonym:

Definition:

Comments:

Reference:

HP:0007129

Genes and Diseases:

Child Nodes:

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:0007129	HP:0007129	Cerebellar medulloblastoma	0	APC CL E G H	324	583	ORPHA:99818	Turcot syndrome with polyposis	HP:0040282 - Frequent	3179
HP:0007129	HP:0007129	Cerebellar medulloblastoma	0	DICER1 CL E G H	23405	17098	ORPHA:276399	Familial multinodular goiter	HP:0040284 - Very rare	670
HP:0007129	HP:0007129	Cerebellar medulloblastoma	0	KEAP1 CL E G H	9817	23177	ORPHA:276399	Familial multinodular goiter	HP:0040284 - Very rare

Genes (3) :APC DICER1 KEAP1

Diseases (2) :ORPHA:99818 ORPHA:276399

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