Human Phenotype Ontology

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:0007685	HP:0007685	Peripheral retinal avascularization	0	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040281 - Very frequent	88
HP:0007685	HP:0007685	Peripheral retinal avascularization	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0007685	HP:0007685	Peripheral retinal avascularization	0	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1	.	109
HP:0007685	HP:0007685	Peripheral retinal avascularization	0	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040281 - Very frequent	109
HP:0007685	HP:0007685	Peripheral retinal avascularization	0	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1	.	125
HP:0007685	HP:0007685	Peripheral retinal avascularization	0	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4	.	125
HP:0007685	HP:0007685	Peripheral retinal avascularization	0	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040281 - Very frequent	125
HP:0007685	HP:0007685	Peripheral retinal avascularization	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0007685	HP:0007685	Peripheral retinal avascularization	0	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked		39
HP:0007685	HP:0007685	Peripheral retinal avascularization	0	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040281 - Very frequent	39
HP:0007685	HP:0007685	Peripheral retinal avascularization	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0007685	HP:0007685	Peripheral retinal avascularization	0	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040281 - Very frequent	39
HP:0007685	HP:0007685	Peripheral retinal avascularization	0	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040281 - Very frequent	14