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:
Yellow/white lesions of the retina (HP:0030506)

Parent Node:
Retinal exudate (HP:0001147)

..Starting node
..Exudative retinopathy (HP:0007898)

Term ID:

7898

Name:

Exudative retinopathy

Synonym:

Definition:

Comments:

Reference:

HP:0007898

Genes and Diseases:

Child Nodes:

Sister Nodes:

Central retinal exudate (HP:0007822)

Intraretinal exudate (HP:0007989)

Peripapillary exudate (HP:0025093)

Subretinal exudate (HP:0011532)

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:0007898	HP:0007898	Exudative retinopathy	0	CTC1 CL E G H	80169	26169	OMIM:612199	Cerebroretinal microangiopathy with calcifications and cysts	.	160
HP:0007898	HP:0007898	Exudative retinopathy	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040282 - Frequent	125
HP:0007898	HP:0007898	Exudative retinopathy	0	TINF2 CL E G H	26277	11824	OMIM:613990	Dyskeratosis congenita, autosomal dominant 3		60
HP:0007898	HP:0007898	Exudative retinopathy	0	TINF2 CL E G H	26277	11824	OMIM:268130	Revesz syndrome	.	60

Genes (3) :CTC1 LRP5 TINF2

Diseases (4) :OMIM:612199 ORPHA:2788 OMIM:613990 OMIM:268130

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