Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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:
Benign neoplasm of the central nervous system (HP:0100835)

Parent Node:
Abnormal cerebellum morphology (HP:0001317)

Parent Node:
Hemangioblastoma (HP:0010797)

..Starting node
..Cerebellar hemangioblastoma (HP:0006880)

Term ID:

6880

Name:

Cerebellar hemangioblastoma

Synonym:

Hemangioblastoma, sporadic cerebellar

Definition:

A hemangioblastoma of the cerebellum.

Comments:

Reference:

HP:0006880

Genes and Diseases:

Child Nodes:

Sister Nodes:

Retinal capillary hemangioma (HP:0009711)

Spinal hemangioblastoma (HP:0009713)

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:0006880	HP:0006880	Cerebellar hemangioblastoma	0	CCND1 CL E G H	595	1582	ORPHA:892	Von Hippel-Lindau disease	HP:0040282 - Frequent	1
HP:0006880	HP:0006880	Cerebellar hemangioblastoma	0	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome	.	1
HP:0006880	HP:0006880	Cerebellar hemangioblastoma	0	VHL CL E G H	7428	12687	ORPHA:892	Von Hippel-Lindau disease	HP:0040282 - Frequent	490
HP:0006880	HP:0006880	Cerebellar hemangioblastoma	0	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome	.	490

Genes (2) :CCND1 VHL

Diseases (2) :ORPHA:892 OMIM:193300

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