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:
Abnormality of the spinal cord (HP:0002143)

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

Parent Node:
Hemangioblastoma (HP:0010797)

Parent Node:
Spinal cord tumor (HP:0010302)

..Starting node
..Spinal hemangioblastoma (HP:0009713)

Term ID:

9713

Name:

Spinal hemangioblastoma

Synonym:

Definition:

A hemangioblastoma of the spinal cord.

Comments:

Reference:

HP:0009713

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:0009713	HP:0009713	Spinal hemangioblastoma	0	CCND1 CL E G H	595	1582	OMIM:193300	Von hippel-lindau syndrome	.	1
HP:0009713	HP:0009713	Spinal hemangioblastoma	0	VHL CL E G H	7428	12687	OMIM:193300	Von hippel-lindau syndrome	.	490

Genes (2) :CCND1 VHL

Diseases (1) :OMIM:193300

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