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:
Abnormal retinal morphology (HP:0000479)

Grandparent Node:
Neoplasm of the eye (HP:0100012)

Parent Node:
Embryonal neoplasm (HP:0002898)

Parent Node:
Neuroepithelial neoplasm (HP:0030063)

Parent Node:
Retinal neoplasm (HP:0012777)

..Starting node
..Retinoblastoma (HP:0009919)

Term ID:

9919

Name:

Retinoblastoma

Synonym:

Retina tumor; Retina tumour

Definition:

A tumor of the eye originating from cells of the retina.

Comments:

Reference:

HP:0009919

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:0009919	HP:0009919	Retinoblastoma	0	CHEK2 CL E G H	11200	16627	OMIM:259500	Osteosarcoma	.	833
HP:0009919	HP:0009919	Retinoblastoma	0	RB1 CL E G H	5925	9884	ORPHA:1587	Monosomy 13q14	HP:0040282 - Frequent	365
HP:0009919	HP:0009919	Retinoblastoma	0	RB1 CL E G H	5925	9884	OMIM:259500	Osteosarcoma	.	365
HP:0009919	HP:0009919	Retinoblastoma	0	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA	.	365
HP:0009919	HP:0009919	Retinoblastoma	0	TP53 CL E G H	7157	11998	OMIM:259500	Osteosarcoma	.	911

Genes (3) :CHEK2 RB1 TP53

Diseases (3) :OMIM:259500 ORPHA:1587 OMIM:180200

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