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:0030613	HP:0030613	Abnormal foveal morphology on macular OCT	0	CLEC3B CL E G H	7123	11891	OMIM:619977
HP:0030613	HP:0030613	Abnormal foveal morphology on macular OCT	0	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy		24
HP:0030613	HP:0030613	Abnormal foveal morphology on macular OCT	0	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy		124
HP:0030613	HP:0030613	Abnormal foveal morphology on macular OCT	0	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy		159
HP:0030613	HP:0030613	Abnormal foveal morphology on macular OCT	0	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy		47
HP:0030613	HP:0030613	Abnormal foveal morphology on macular OCT	0	SLC24A5 CL E G H	283652	20611	ORPHA:370097	Oculocutaneous albinism type 6	HP:0040281 - Very frequent	12
HP:0030613	HP:0030622	Abnormal foveal pit on macular OCT	1	CL E G H
HP:0030613	HP:0030621	Foveal inner retinal layer loss on macular OCT	1	CL E G H
HP:0030613	HP:0030616	Foveal retinal pigment epithelial loss on macular OCT	1	CL E G H
HP:0030613	HP:0030614	Foveal photoreceptor layer loss on macular OCT	1	CL E G H
HP:0030613	HP:0030627	Foveal hyporeflective spaces on macular OCT	1	CL E G H
HP:0030613	HP:0030617	Abnormal OCT-measured foveal thickness	1	CLEC3B CL E G H	7123	11891	OMIM:619977
HP:0030613	HP:0030615	Foveal photoreceptor outer segment loss on macular OCT	1	GUCA1A CL E G H	2978	4678	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent	24
HP:0030613	HP:0030615	Foveal photoreceptor outer segment loss on macular OCT	1	GUCY2D CL E G H	3000	4689	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent	124
HP:0030613	HP:0030615	Foveal photoreceptor outer segment loss on macular OCT	1	PRPH2 CL E G H	5961	9942	ORPHA:75377	Central areolar choroidal dystrophy	HP:0040282 - Frequent	159
HP:0030613	HP:0030617	Abnormal OCT-measured foveal thickness	1	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy		47
HP:0030613	HP:0030626	Foveal intraretinal hyporeflective spaces on macular OCT	2	CL E G H
HP:0030613	HP:0030628	Foveal subretinal hyporeflective spaces on macular OCT	2	CL E G H
HP:0030613	HP:0030619	Reduced OCT-measured foveal thickness	2	CLEC3B CL E G H	7123	11891	OMIM:619977
HP:0030613	HP:0030618	Increased OCT-measured foveal thickness	2	RLBP1 CL E G H	6017	10024	ORPHA:85128	Bothnia retinal dystrophy	HP:0040281 - Very frequent	47