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)

Parent Node:
Retinal perforation (HP:0011958)

..Starting node
..Retinal hole (HP:0011530)

Term ID:

11530

Name:

Retinal hole

Synonym:

Retinal holes

Definition:

A small break in the retina.

Comments:

Reference:

HP:0011530

Genes and Diseases:

Child Nodes:

Sister Nodes:

Macular hole (HP:0011508)

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:0011530	HP:0011530	Retinal hole	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I		284
HP:0011530	HP:0011530	Retinal hole	0	CTNNB1 CL E G H	1499	2514	OMIM:617572	Exudative vitreoretinopathy 7	.	88
HP:0011530	HP:0011530	Retinal hole	0	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1		109
HP:0011530	HP:0011530	Retinal hole	0	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1		125
HP:0011530	HP:0011530	Retinal hole	0	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked	HP:0040283 - Occasional	39

Genes (5) :COL2A1 CTNNB1 FZD4 LRP5 NDP

Diseases (4) :OMIM:108300 OMIM:617572 OMIM:133780 OMIM:305390

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