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:0007773	HP:0007773	Vitreoretinopathy	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0007773	HP:0007773	Vitreoretinopathy	0	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory	.	6
HP:0007773	HP:0007773	Vitreoretinopathy	0	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent	215
HP:0007773	HP:0007773	Vitreoretinopathy	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0007773	HP:0007773	Vitreoretinopathy	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040282 - Frequent	215
HP:0007773	HP:0007773	Vitreoretinopathy	0	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040282 - Frequent	177
HP:0007773	HP:0007773	Vitreoretinopathy	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1	.	177
HP:0007773	HP:0007773	Vitreoretinopathy	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040281 - Very frequent	284
HP:0007773	HP:0007773	Vitreoretinopathy	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.	284
HP:0007773	HP:0007773	Vitreoretinopathy	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I		284
HP:0007773	HP:0007773	Vitreoretinopathy	0	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent	110
HP:0007773	HP:0007773	Vitreoretinopathy	0	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4		110
HP:0007773	HP:0007773	Vitreoretinopathy	0	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent	110
HP:0007773	HP:0007773	Vitreoretinopathy	0	COL9A2 CL E G H	1298	2218	OMIM:614284	Stickler syndrome, type V	.	110
HP:0007773	HP:0007773	Vitreoretinopathy	0	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent	137
HP:0007773	HP:0007773	Vitreoretinopathy	0	CRB1 CL E G H	23418	2343	OMIM:172870	Pigmented paravenous chorioretinal atrophy	.	156
HP:0007773	HP:0007773	Vitreoretinopathy	0	CTNNB1 CL E G H	1499	2514	OMIM:617572	Exudative vitreoretinopathy 7	.	88
HP:0007773	HP:0007773	Vitreoretinopathy	0	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040280 - Obligate	88
HP:0007773	HP:0007773	Vitreoretinopathy	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects		88
HP:0007773	HP:0007773	Vitreoretinopathy	0	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2		12
HP:0007773	HP:0007773	Vitreoretinopathy	0	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1		109
HP:0007773	HP:0007773	Vitreoretinopathy	0	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040280 - Obligate	109
HP:0007773	HP:0007773	Vitreoretinopathy	0	KCNJ13 CL E G H	3769	6259	OMIM:193230	Snowflake vitreoretinal degeneration		42
HP:0007773	HP:0007773	Vitreoretinopathy	0	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent	4
HP:0007773	HP:0007773	Vitreoretinopathy	0	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1		125
HP:0007773	HP:0007773	Vitreoretinopathy	0	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4		125
HP:0007773	HP:0007773	Vitreoretinopathy	0	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040280 - Obligate	125
HP:0007773	HP:0007773	Vitreoretinopathy	0	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome	.	125
HP:0007773	HP:0007773	Vitreoretinopathy	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome		125
HP:0007773	HP:0007773	Vitreoretinopathy	0	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked		39
HP:0007773	HP:0007773	Vitreoretinopathy	0	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040280 - Obligate	39
HP:0007773	HP:0007773	Vitreoretinopathy	0	NR2E3 CL E G H	10002	7974	OMIM:268100	Enhanced S-cone syndrome	.	58
HP:0007773	HP:0007773	Vitreoretinopathy	0	P3H2 CL E G H	55214	19317	OMIM:614292	Myopia, high, with cataract and vitreoretinal degeneration		5
HP:0007773	HP:0007773	Vitreoretinopathy	0	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0007773	HP:0007773	Vitreoretinopathy	0	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040282 - Frequent
HP:0007773	HP:0007773	Vitreoretinopathy	0	TSPAN12 CL E G H	23554	21641	OMIM:613310	Exudative vitreoretinopathy 5		39
HP:0007773	HP:0007773	Vitreoretinopathy	0	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040280 - Obligate	39
HP:0007773	HP:0007773	Vitreoretinopathy	0	VCAN CL E G H	1462	2464	OMIM:143200	Wagner vitreoretinopathy	.	180
HP:0007773	HP:0007773	Vitreoretinopathy	0	ZNF408 CL E G H	79797	20041	OMIM:616468	Exudative vitreoretinopathy 6		14
HP:0007773	HP:0007773	Vitreoretinopathy	0	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040280 - Obligate	14
HP:0007773	HP:0030673	Erosive vitreoretinopathy	1	CL E G H
HP:0007773	HP:0030490	Exudative vitreoretinopathy	1	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0007773	HP:0007964	Degenerative vitreoretinopathy	1	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040281 - Very frequent	284
HP:0007773	HP:0007964	Degenerative vitreoretinopathy	1	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4		110
HP:0007773	HP:0030490	Exudative vitreoretinopathy	1	CTNNB1 CL E G H	1499	2514	OMIM:617572	Exudative vitreoretinopathy 7		88
HP:0007773	HP:0030490	Exudative vitreoretinopathy	1	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects	HP:0040284 - Very rare	88
HP:0007773	HP:0007964	Degenerative vitreoretinopathy	1	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2	.	12
HP:0007773	HP:0030490	Exudative vitreoretinopathy	1	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1	.	109
HP:0007773	HP:0011533	Snowflake vitreoretinal degeneration	1	KCNJ13 CL E G H	3769	6259	OMIM:193230	Snowflake vitreoretinal degeneration		42
HP:0007773	HP:0030490	Exudative vitreoretinopathy	1	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1	.	125
HP:0007773	HP:0030490	Exudative vitreoretinopathy	1	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4	.	125
HP:0007773	HP:0030490	Exudative vitreoretinopathy	1	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040282 - Frequent	125
HP:0007773	HP:0030490	Exudative vitreoretinopathy	1	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked	.	39
HP:0007773	HP:0200071	Peripheral vitreoretinal degeneration	1	P3H2 CL E G H	55214	19317	OMIM:614292	Myopia, high, with cataract and vitreoretinal degeneration	.	5
HP:0007773	HP:0030490	Exudative vitreoretinopathy	1	TSPAN12 CL E G H	23554	21641	OMIM:613310	Exudative vitreoretinopathy 5	.	39
HP:0007773	HP:0030490	Exudative vitreoretinopathy	1	VCAN CL E G H	1462	2464	OMIM:143200	Wagner vitreoretinopathy	HP:0040283 - Occasional	180
HP:0007773	HP:0030490	Exudative vitreoretinopathy	1	ZNF408 CL E G H	79797	20041	OMIM:616468	Exudative vitreoretinopathy 6	.	14