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:0025568	HP:0025568	Abnormal morphology of the choroidal vasculature	0	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy		415
HP:0025568	HP:0025568	Abnormal morphology of the choroidal vasculature	0	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0025568	HP:0025568	Abnormal morphology of the choroidal vasculature	0	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I		260
HP:0025568	HP:0025568	Abnormal morphology of the choroidal vasculature	0	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1		39
HP:0025568	HP:0025568	Abnormal morphology of the choroidal vasculature	0	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration		20
HP:0025568	HP:0025568	Abnormal morphology of the choroidal vasculature	0	CCM2 CL E G H	83605	21708	ORPHA:221061	Familial cerebral cavernous malformation		37
HP:0025568	HP:0025568	Abnormal morphology of the choroidal vasculature	0	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen		86
HP:0025568	HP:0025568	Abnormal morphology of the choroidal vasculature	0	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1
HP:0025568	HP:0025568	Abnormal morphology of the choroidal vasculature	0	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1
HP:0025568	HP:0025568	Abnormal morphology of the choroidal vasculature	0	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen		57
HP:0025568	HP:0025568	Abnormal morphology of the choroidal vasculature	0	CFI CL E G H	3426	5394	OMIM:615439	Macular degeneration, age-related, 13		57
HP:0025568	HP:0025568	Abnormal morphology of the choroidal vasculature	0	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia		44
HP:0025568	HP:0025568	Abnormal morphology of the choroidal vasculature	0	CLEC3B CL E G H	7123	11891	OMIM:619977
HP:0025568	HP:0025568	Abnormal morphology of the choroidal vasculature	0	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen		54
HP:0025568	HP:0025568	Abnormal morphology of the choroidal vasculature	0	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy		151
HP:0025568	HP:0025568	Abnormal morphology of the choroidal vasculature	0	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome		12
HP:0025568	HP:0025568	Abnormal morphology of the choroidal vasculature	0	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3		63
HP:0025568	HP:0025568	Abnormal morphology of the choroidal vasculature	0	FBN2 CL E G H	2201	3604	OMIM:616118	MACULAR DEGENERATION, EARLY-ONSET; EOMD		655
HP:0025568	HP:0025568	Abnormal morphology of the choroidal vasculature	0	GNAQ CL E G H	2776	4390	OMIM:185300	Sturge-Weber syndrome		7
HP:0025568	HP:0025568	Abnormal morphology of the choroidal vasculature	0	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy		4
HP:0025568	HP:0025568	Abnormal morphology of the choroidal vasculature	0	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1		262
HP:0025568	HP:0025568	Abnormal morphology of the choroidal vasculature	0	KRIT1 CL E G H	889	1573	ORPHA:221061	Familial cerebral cavernous malformation		92
HP:0025568	HP:0025568	Abnormal morphology of the choroidal vasculature	0	MAPKAPK3 CL E G H	7867	6888	OMIM:617111	Macular dystrophy, patterned, 3		1
HP:0025568	HP:0025568	Abnormal morphology of the choroidal vasculature	0	PDCD10 CL E G H	11235	8761	ORPHA:221061	Familial cerebral cavernous malformation		21
HP:0025568	HP:0025568	Abnormal morphology of the choroidal vasculature	0	PRPH2 CL E G H	5961	9942	OMIM:169150	Macular dystrophy, patterned, 1		159
HP:0025568	HP:0025568	Abnormal morphology of the choroidal vasculature	0	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3		159
HP:0025568	HP:0025568	Abnormal morphology of the choroidal vasculature	0	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy		95
HP:0025568	HP:0025568	Abnormal morphology of the choroidal vasculature	0	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0025568	HP:0025568	Abnormal morphology of the choroidal vasculature	0	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5
HP:0025568	HP:0025569	Polypoidal choroidal vasculopathy	1	CL E G H
HP:0025568	HP:0030979	Dilatation of large choroidal vessels	1	CL E G H
HP:0025568	HP:0025570	Choroidal vascular hyperpermeability	1	CL E G H
HP:0025568	HP:0011506	Choroidal neovascularization	1	ABCC6 CL E G H	368	57	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	415
HP:0025568	HP:0011506	Choroidal neovascularization	1	ABCC6 CL E G H	368	57	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		415
HP:0025568	HP:0011506	Choroidal neovascularization	1	AGXT CL E G H	189	341	OMIM:259900	Hyperoxaluria, primary, type I	.	260
HP:0025568	HP:0011506	Choroidal neovascularization	1	APOE CL E G H	348	613	OMIM:603075	Macular degeneration, age-related, 1	HP:0040284 - Very rare	39
HP:0025568	HP:0011506	Choroidal neovascularization	1	C1QTNF5 CL E G H	114902	14344	ORPHA:67042	Late-onset retinal degeneration	HP:0040282 - Frequent	20
HP:0025568	HP:0007872	Choroidal hemangioma	1	CCM2 CL E G H	83605	21708	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040283 - Occasional	37
HP:0025568	HP:0011506	Choroidal neovascularization	1	CFH CL E G H	3075	4883	ORPHA:75376	Familial drusen	HP:0040283 - Occasional	86
HP:0025568	HP:0011506	Choroidal neovascularization	1	CFHR1 CL E G H	3078	4888	OMIM:603075	Macular degeneration, age-related, 1	HP:0040284 - Very rare
HP:0025568	HP:0011506	Choroidal neovascularization	1	CFHR3 CL E G H	10878	16980	OMIM:603075	Macular degeneration, age-related, 1	HP:0040284 - Very rare
HP:0025568	HP:0011506	Choroidal neovascularization	1	CFI CL E G H	3426	5394	ORPHA:75376	Familial drusen	HP:0040283 - Occasional	57
HP:0025568	HP:0011506	Choroidal neovascularization	1	CFI CL E G H	3426	5394	OMIM:615439	Macular degeneration, age-related, 13		57
HP:0025568	HP:0011506	Choroidal neovascularization	1	CLCN2 CL E G H	1181	2020	OMIM:615651	Leukoencephalopathy with ataxia		44
HP:0025568	HP:0011506	Choroidal neovascularization	1	CLEC3B CL E G H	7123	11891	OMIM:619977
HP:0025568	HP:0011506	Choroidal neovascularization	1	EFEMP1 CL E G H	2202	3218	ORPHA:75376	Familial drusen	HP:0040283 - Occasional	54
HP:0025568	HP:0011506	Choroidal neovascularization	1	ENPP1 CL E G H	5167	3356	ORPHA:51608	Generalized arterial calcification of infancy	HP:0040284 - Very rare	151
HP:0025568	HP:0011506	Choroidal neovascularization	1	FBLN1 CL E G H	2192	3600	ORPHA:404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	HP:0040282 - Frequent	12
HP:0025568	HP:0011506	Choroidal neovascularization	1	FBLN5 CL E G H	10516	3602	OMIM:608895	Macular degeneration, age-related, 3		63
HP:0025568	HP:0011506	Choroidal neovascularization	1	FBN2 CL E G H	2201	3604	OMIM:616118	MACULAR DEGENERATION, EARLY-ONSET; EOMD		655
HP:0025568	HP:0007872	Choroidal hemangioma	1	GNAQ CL E G H	2776	4390	OMIM:185300	Sturge-Weber syndrome	.	7
HP:0025568	HP:0011506	Choroidal neovascularization	1	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040283 - Occasional	4
HP:0025568	HP:0011506	Choroidal neovascularization	1	HMCN1 CL E G H	83872	19194	OMIM:603075	Macular degeneration, age-related, 1	HP:0040284 - Very rare	262
HP:0025568	HP:0007872	Choroidal hemangioma	1	KRIT1 CL E G H	889	1573	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040283 - Occasional	92
HP:0025568	HP:0011506	Choroidal neovascularization	1	MAPKAPK3 CL E G H	7867	6888	OMIM:617111	Macular dystrophy, patterned, 3	HP:0040284 - Very rare	1
HP:0025568	HP:0007872	Choroidal hemangioma	1	PDCD10 CL E G H	11235	8761	ORPHA:221061	Familial cerebral cavernous malformation	HP:0040283 - Occasional	21
HP:0025568	HP:0011506	Choroidal neovascularization	1	PRPH2 CL E G H	5961	9942	OMIM:169150	Macular dystrophy, patterned, 1	HP:0040284 - Very rare	159
HP:0025568	HP:0011506	Choroidal neovascularization	1	PRPH2 CL E G H	5961	9942	OMIM:608161	Macular dystrophy, vitelliform, 3	HP:0040284 - Very rare	159
HP:0025568	HP:0011506	Choroidal neovascularization	1	TIMP3 CL E G H	7078	11822	ORPHA:59181	Sorsby pseudoinflammatory fundus dystrophy	HP:0040282 - Frequent	95
HP:0025568	HP:0011506	Choroidal neovascularization	1	XYLT1 CL E G H	64131	15516	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		14
HP:0025568	HP:0011506	Choroidal neovascularization	1	XYLT2 CL E G H	64132	15517	OMIM:264800	PSEUDOXANTHOMA ELASTICUM; PXE		5
HP:0025568	HP:0031241	Subfoveal choroidal neovascularization	2	CL E G H
HP:0025568	HP:0031240	Juxtafoveal choroidal neovascularization	2	CL E G H
HP:0025568	HP:0031239	Extrafoveal choroidal neovascularization	2	CL E G H