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:0004327	HP:0004327	Abnormal vitreous humor morphology	0	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83		1
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous		4
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive		4
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma		184
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY		182
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory		6
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome		215
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome		215
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040282 - Frequent	215
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	COL11A1 CL E G H	1301	2186	ORPHA:90654	Stickler syndrome type 2	HP:0040281 - Very frequent	215
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	COL11A1 CL E G H	1301	2186	OMIM:604841	Stickler syndrome, type II	.	215
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040282 - Frequent	177
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1		177
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:93296	Achondrogenesis type 2	HP:0040283 - Occasional	284
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness		284
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia		284
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type		284
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita		284
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	COL2A1 CL E G H	1280	2200	ORPHA:90653	Stickler syndrome type 1	HP:0040281 - Very frequent	284
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I		284
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	COL2A1 CL E G H	1280	2200	OMIM:609508	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR		284
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome		110
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4		110
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome		110
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	COL9A2 CL E G H	1298	2218	OMIM:614284	Stickler syndrome, type V		110
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome		137
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent	6
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	CRB1 CL E G H	23418	2343	OMIM:172870	Pigmented paravenous chorioretinal atrophy		156
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	CTNNB1 CL E G H	1499	2514	OMIM:617572	Exudative vitreoretinopathy 7		88
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy		88
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects		88
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma		1
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2		12
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1		109
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy		109
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous		109
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	FZD4 CL E G H	8322	4042	ORPHA:90050	Retinopathy of prematurity		109
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma		16
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma		7
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent	11
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy		4
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	KCNJ13 CL E G H	3769	6259	OMIM:193230	Snowflake vitreoretinal degeneration		42
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome		4
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1		125
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4		125
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy		125
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome		125
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040282 - Frequent	125
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	LRP5 CL E G H	4041	6697	ORPHA:90050	Retinopathy of prematurity		125
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked		39
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy		39
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040282 - Frequent	39
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous		39
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	NDP CL E G H	4693	7678	ORPHA:90050	Retinopathy of prematurity		39
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent	3
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2		220
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	NR2E3 CL E G H	10002	7974	OMIM:268100	Enhanced S-cone syndrome		58
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	P3H2 CL E G H	55214	19317	OMIM:614292	Myopia, high, with cataract and vitreoretinal degeneration		5
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040282 - Frequent
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT		194
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia		194
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	PAX6 CL E G H	5080	8620	OMIM:165550	OPTIC NERVE HYPOPLASIA, BILATERAL		194
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive		65
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13		94
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA		365
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile		148
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma		19
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	TSPAN12 CL E G H	23554	21641	OMIM:613310	Exudative vitreoretinopathy 5		39
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy		39
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related		107
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	TTR CL E G H	7276	12405	ORPHA:85447	ATTRV30M amyloidosis		107
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	VCAN CL E G H	1462	2464	OMIM:143200	Wagner vitreoretinopathy		180
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	ZNF408 CL E G H	79797	20041	OMIM:616468	Exudative vitreoretinopathy 6		14
HP:0004327	HP:0004327	Abnormal vitreous humor morphology	0	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy		14
HP:0004327	HP:0031154	Beaded vitreous appearance	1	CL E G H
HP:0004327	HP:0100832	Vitreous floaters	1	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83		1
HP:0004327	HP:0030672	Asteroid hyalosis	1	ARL3 CL E G H	403	694	OMIM:618173	RETINITIS PIGMENTOSA 83; RP83		1
HP:0004327	HP:0100832	Vitreous floaters	1	ARSK CL E G H	153642	25239	OMIM:619698	MUCOPOLYSACCHARIDOSIS, TYPE X; MPS10
HP:0004327	HP:0007968	Remnants of the hyaloid vascular system	1	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous		4
HP:0004327	HP:0007968	Remnants of the hyaloid vascular system	1	ATOH7 CL E G H	220202	13907	OMIM:221900	Persistent hyperplastic primary vitreous, autosomal recessive	.	4
HP:0004327	HP:0007773	Vitreoretinopathy	1	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0004327	HP:0007902	Vitreous hemorrhage	1	BAP1 CL E G H	8314	950	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional	184
HP:0004327	HP:0007968	Remnants of the hyaloid vascular system	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2	.	101
HP:0004327	HP:0007902	Vitreous hemorrhage	1	BEST1 CL E G H	7439	12703	OMIM:193220	VITREORETINOCHOROIDOPATHY	.	182
HP:0004327	HP:0007902	Vitreous hemorrhage	1	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory	.	6
HP:0004327	HP:0007773	Vitreoretinopathy	1	CAPN5 CL E G H	726	1482	OMIM:193235	Vitreoretinopathy, neovascular inflammatory	.	6
HP:0004327	HP:0007773	Vitreoretinopathy	1	COL11A1 CL E G H	1301	2186	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent	215
HP:0004327	HP:0007773	Vitreoretinopathy	1	COL11A1 CL E G H	1301	2186	ORPHA:560	Marshall syndrome	HP:0040282 - Frequent	215
HP:0004327	HP:0007773	Vitreoretinopathy	1	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0004327	HP:0007773	Vitreoretinopathy	1	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040282 - Frequent	177
HP:0004327	HP:0007773	Vitreoretinopathy	1	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1	.	177
HP:0004327	HP:0030672	Asteroid hyalosis	1	COL2A1 CL E G H	1280	2200	OMIM:132450	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	.	284
HP:0004327	HP:0007773	Vitreoretinopathy	1	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040281 - Very frequent	284
HP:0004327	HP:0030672	Asteroid hyalosis	1	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040283 - Occasional	284
HP:0004327	HP:0007773	Vitreoretinopathy	1	COL2A1 CL E G H	1280	2200	OMIM:183900	Spondyloepiphyseal dysplasia congenita	.	284
HP:0004327	HP:0031153	Membranous vitreous appearance	1	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I		284
HP:0004327	HP:0007773	Vitreoretinopathy	1	COL2A1 CL E G H	1280	2200	OMIM:108300	Stickler syndrome, type I		284
HP:0004327	HP:0030663	Optically empty vitreous	1	COL2A1 CL E G H	1280	2200	OMIM:609508	STICKLER SYNDROME, TYPE I, NONSYNDROMIC OCULAR		284
HP:0004327	HP:0007773	Vitreoretinopathy	1	COL9A1 CL E G H	1297	2217	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent	110
HP:0004327	HP:0007773	Vitreoretinopathy	1	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4		110
HP:0004327	HP:0007773	Vitreoretinopathy	1	COL9A2 CL E G H	1298	2218	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent	110
HP:0004327	HP:0007773	Vitreoretinopathy	1	COL9A2 CL E G H	1298	2218	OMIM:614284	Stickler syndrome, type V	.	110
HP:0004327	HP:0007773	Vitreoretinopathy	1	COL9A3 CL E G H	1299	2219	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent	137
HP:0004327	HP:0011531	Vitritis	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent	6
HP:0004327	HP:0007773	Vitreoretinopathy	1	CRB1 CL E G H	23418	2343	OMIM:172870	Pigmented paravenous chorioretinal atrophy	.	156
HP:0004327	HP:0007968	Remnants of the hyaloid vascular system	1	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0004327	HP:0007773	Vitreoretinopathy	1	CTNNB1 CL E G H	1499	2514	OMIM:617572	Exudative vitreoretinopathy 7	.	88
HP:0004327	HP:0007902	Vitreous hemorrhage	1	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	88
HP:0004327	HP:0100832	Vitreous floaters	1	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	88
HP:0004327	HP:0007773	Vitreoretinopathy	1	CTNNB1 CL E G H	1499	2514	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040280 - Obligate	88
HP:0004327	HP:0007773	Vitreoretinopathy	1	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects		88
HP:0004327	HP:0007902	Vitreous hemorrhage	1	CYSLTR2 CL E G H	57105	18274	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional	1
HP:0004327	HP:0007773	Vitreoretinopathy	1	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2		12
HP:0004327	HP:0001489	Posterior vitreous detachment	1	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1	.	109
HP:0004327	HP:0007902	Vitreous hemorrhage	1	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1	.	109
HP:0004327	HP:0007773	Vitreoretinopathy	1	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1		109
HP:0004327	HP:0100832	Vitreous floaters	1	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1		109
HP:0004327	HP:0100832	Vitreous floaters	1	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	109
HP:0004327	HP:0007773	Vitreoretinopathy	1	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040280 - Obligate	109
HP:0004327	HP:0007902	Vitreous hemorrhage	1	FZD4 CL E G H	8322	4042	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	109
HP:0004327	HP:0007968	Remnants of the hyaloid vascular system	1	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous		109
HP:0004327	HP:0007902	Vitreous hemorrhage	1	FZD4 CL E G H	8322	4042	ORPHA:90050	Retinopathy of prematurity	HP:0040283 - Occasional	109
HP:0004327	HP:0007902	Vitreous hemorrhage	1	GNA11 CL E G H	2767	4379	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional	16
HP:0004327	HP:0007902	Vitreous hemorrhage	1	GNAQ CL E G H	2776	4390	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional	7
HP:0004327	HP:0011531	Vitritis	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent	11
HP:0004327	HP:0011531	Vitritis	1	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040281 - Very frequent	4
HP:0004327	HP:0100832	Vitreous floaters	1	HLA-A CL E G H	3105	4931	ORPHA:179	Birdshot chorioretinopathy	HP:0040282 - Frequent	4
HP:0004327	HP:0007773	Vitreoretinopathy	1	KCNJ13 CL E G H	3769	6259	OMIM:193230	Snowflake vitreoretinal degeneration		42
HP:0004327	HP:0030663	Optically empty vitreous	1	KCNJ13 CL E G H	3769	6259	OMIM:193230	Snowflake vitreoretinal degeneration	HP:0040283 - Occasional	42
HP:0004327	HP:0007968	Remnants of the hyaloid vascular system	1	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0004327	HP:0007773	Vitreoretinopathy	1	LOXL3 CL E G H	84695	13869	ORPHA:250984	Autosomal recessive Stickler syndrome	HP:0040282 - Frequent	4
HP:0004327	HP:0001489	Posterior vitreous detachment	1	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1	.	125
HP:0004327	HP:0100832	Vitreous floaters	1	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1		125
HP:0004327	HP:0007773	Vitreoretinopathy	1	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1		125
HP:0004327	HP:0007902	Vitreous hemorrhage	1	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1	.	125
HP:0004327	HP:0007902	Vitreous hemorrhage	1	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4	.	125
HP:0004327	HP:0007773	Vitreoretinopathy	1	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4		125
HP:0004327	HP:0001489	Posterior vitreous detachment	1	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4	.	125
HP:0004327	HP:0007902	Vitreous hemorrhage	1	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	125
HP:0004327	HP:0007773	Vitreoretinopathy	1	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040280 - Obligate	125
HP:0004327	HP:0100832	Vitreous floaters	1	LRP5 CL E G H	4041	6697	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	125
HP:0004327	HP:0007773	Vitreoretinopathy	1	LRP5 CL E G H	4041	6697	OMIM:259770	Osteoporosis-Pseudoglioma syndrome	.	125
HP:0004327	HP:0007773	Vitreoretinopathy	1	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome		125
HP:0004327	HP:0007902	Vitreous hemorrhage	1	LRP5 CL E G H	4041	6697	ORPHA:90050	Retinopathy of prematurity	HP:0040283 - Occasional	125
HP:0004327	HP:0007710	Peripheral vitreous opacities	1	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked		39
HP:0004327	HP:0007773	Vitreoretinopathy	1	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked		39
HP:0004327	HP:0007773	Vitreoretinopathy	1	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040280 - Obligate	39
HP:0004327	HP:0007902	Vitreous hemorrhage	1	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0004327	HP:0100832	Vitreous floaters	1	NDP CL E G H	4693	7678	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0004327	HP:0007968	Remnants of the hyaloid vascular system	1	NDP CL E G H	4693	7678	ORPHA:649	Norrie disease	HP:0040282 - Frequent	39
HP:0004327	HP:0007968	Remnants of the hyaloid vascular system	1	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous		39
HP:0004327	HP:0007902	Vitreous hemorrhage	1	NDP CL E G H	4693	7678	ORPHA:90050	Retinopathy of prematurity	HP:0040283 - Occasional	39
HP:0004327	HP:0011531	Vitritis	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040282 - Frequent	3
HP:0004327	HP:0007968	Remnants of the hyaloid vascular system	1	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040284 - Very rare	220
HP:0004327	HP:0007773	Vitreoretinopathy	1	NR2E3 CL E G H	10002	7974	OMIM:268100	Enhanced S-cone syndrome	.	58
HP:0004327	HP:0100832	Vitreous floaters	1	P3H2 CL E G H	55214	19317	OMIM:614292	Myopia, high, with cataract and vitreoretinal degeneration		5
HP:0004327	HP:0007773	Vitreoretinopathy	1	P3H2 CL E G H	55214	19317	OMIM:614292	Myopia, high, with cataract and vitreoretinal degeneration		5
HP:0004327	HP:0007773	Vitreoretinopathy	1	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0004327	HP:0100832	Vitreous floaters	1	PAK2 CL E G H	5062	8591	OMIM:618458
HP:0004327	HP:0007773	Vitreoretinopathy	1	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040282 - Frequent
HP:0004327	HP:0007968	Remnants of the hyaloid vascular system	1	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT		194
HP:0004327	HP:0007710	Peripheral vitreous opacities	1	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia	HP:0040282 - Frequent	194
HP:0004327	HP:0007968	Remnants of the hyaloid vascular system	1	PAX6 CL E G H	5080	8620	OMIM:165550	OPTIC NERVE HYPOPLASIA, BILATERAL		194
HP:0004327	HP:0007902	Vitreous hemorrhage	1	PROC CL E G H	5624	9451	OMIM:612304	Thrombophilia due to protein C deficiency, autosomal recessive	.	65
HP:0004327	HP:0030672	Asteroid hyalosis	1	PRPF8 CL E G H	10594	17340	OMIM:600059	Retinitis pigmentosa 13		94
HP:0004327	HP:0007968	Remnants of the hyaloid vascular system	1	PRR12 CL E G H	57479	29217	OMIM:619539	NEUROOCULAR SYNDROME; NOC		1
HP:0004327	HP:0011531	Vitritis	1	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA	HP:0040283 - Occasional	365
HP:0004327	HP:0007902	Vitreous hemorrhage	1	RB1 CL E G H	5925	9884	OMIM:180200	RETINOBLASTOMA	.	365
HP:0004327	HP:0007902	Vitreous hemorrhage	1	RS1 CL E G H	6247	10457	OMIM:312700	Retinoschisis 1, X-linked, juvenile		148
HP:0004327	HP:0007902	Vitreous hemorrhage	1	SF3B1 CL E G H	23451	10768	ORPHA:39044	Uveal melanoma	HP:0040283 - Occasional	19
HP:0004327	HP:0007968	Remnants of the hyaloid vascular system	1	SIX3 CL E G H	6496	10889	OMIM:157170	Holoprosencephaly 2		32
HP:0004327	HP:0007773	Vitreoretinopathy	1	TSPAN12 CL E G H	23554	21641	OMIM:613310	Exudative vitreoretinopathy 5		39
HP:0004327	HP:0100832	Vitreous floaters	1	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0004327	HP:0007773	Vitreoretinopathy	1	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040280 - Obligate	39
HP:0004327	HP:0007902	Vitreous hemorrhage	1	TSPAN12 CL E G H	23554	21641	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	39
HP:0004327	HP:0007841	Amyloid deposition in the vitreous humor	1	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related	.	107
HP:0004327	HP:0100832	Vitreous floaters	1	TTR CL E G H	7276	12405	ORPHA:85447	ATTRV30M amyloidosis	HP:0040282 - Frequent	107
HP:0004327	HP:0007773	Vitreoretinopathy	1	VCAN CL E G H	1462	2464	OMIM:143200	Wagner vitreoretinopathy	.	180
HP:0004327	HP:0030663	Optically empty vitreous	1	VCAN CL E G H	1462	2464	OMIM:143200	Wagner vitreoretinopathy		180
HP:0004327	HP:0007773	Vitreoretinopathy	1	ZNF408 CL E G H	79797	20041	OMIM:616468	Exudative vitreoretinopathy 6		14
HP:0004327	HP:0001489	Posterior vitreous detachment	1	ZNF408 CL E G H	79797	20041	OMIM:616468	Exudative vitreoretinopathy 6	.	14
HP:0004327	HP:0100832	Vitreous floaters	1	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	14
HP:0004327	HP:0007773	Vitreoretinopathy	1	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040280 - Obligate	14
HP:0004327	HP:0007902	Vitreous hemorrhage	1	ZNF408 CL E G H	79797	20041	ORPHA:891	Familial exudative vitreoretinopathy	HP:0040283 - Occasional	14
HP:0004327	HP:0030742	Glial remnants posterior to lens	2	CL E G H
HP:0004327	HP:0030673	Erosive vitreoretinopathy	2	CL E G H
HP:0004327	HP:0030662	Vitreous inflammatory cells	2	CL E G H
HP:0004327	HP:0030661	Vitreous snowballs	2	CL E G H
HP:0004327	HP:0030652	Vitreous haze	2	CL E G H
HP:0004327	HP:0009922	Vascular remnant arising from the disc	2	CL E G H
HP:0004327	HP:0030832	Vitreous strands	2	CL E G H
HP:0004327	HP:0030743	Glial remnants anterior to the optic disc	2	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous		4
HP:0004327	HP:0030744	Hyaloid vascular remnant and retrolental mass	2	ATOH7 CL E G H	220202	13907	ORPHA:91495	Persistent hyperplastic primary vitreous		4
HP:0004327	HP:0030490	Exudative vitreoretinopathy	2	BAP1 CL E G H	8314	950	OMIM:619762	KURY-ISIDOR SYNDROME; KURIS		184
HP:0004327	HP:0007964	Degenerative vitreoretinopathy	2	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040281 - Very frequent	284
HP:0004327	HP:0007964	Degenerative vitreoretinopathy	2	COL9A1 CL E G H	1297	2217	OMIM:614134	STICKLER SYNDROME, TYPE IV; STL4		110
HP:0004327	HP:0030490	Exudative vitreoretinopathy	2	CTNNB1 CL E G H	1499	2514	OMIM:617572	Exudative vitreoretinopathy 7		88
HP:0004327	HP:0030490	Exudative vitreoretinopathy	2	CTNNB1 CL E G H	1499	2514	OMIM:615075	Neurodevelopmental disorder with spastic diplegia and visual defects	HP:0040284 - Very rare	88
HP:0004327	HP:0007964	Degenerative vitreoretinopathy	2	ERBB3 CL E G H	2065	3431	OMIM:607598	Lethal congenital contracture syndrome 2	.	12
HP:0004327	HP:0030490	Exudative vitreoretinopathy	2	FZD4 CL E G H	8322	4042	OMIM:133780	Exudative vitreoretinopathy 1	.	109
HP:0004327	HP:0030744	Hyaloid vascular remnant and retrolental mass	2	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous		109
HP:0004327	HP:0030743	Glial remnants anterior to the optic disc	2	FZD4 CL E G H	8322	4042	ORPHA:91495	Persistent hyperplastic primary vitreous		109
HP:0004327	HP:0011533	Snowflake vitreoretinal degeneration	2	KCNJ13 CL E G H	3769	6259	OMIM:193230	Snowflake vitreoretinal degeneration		42
HP:0004327	HP:0030490	Exudative vitreoretinopathy	2	LRP5 CL E G H	4041	6697	OMIM:133780	Exudative vitreoretinopathy 1	.	125
HP:0004327	HP:0030490	Exudative vitreoretinopathy	2	LRP5 CL E G H	4041	6697	OMIM:601813	Exudative vitreoretinopathy 4	.	125
HP:0004327	HP:0030490	Exudative vitreoretinopathy	2	LRP5 CL E G H	4041	6697	ORPHA:2788	Osteoporosis-pseudoglioma syndrome	HP:0040282 - Frequent	125
HP:0004327	HP:0030490	Exudative vitreoretinopathy	2	NDP CL E G H	4693	7678	OMIM:305390	Exudative vitreoretinopathy 2, X-linked	.	39
HP:0004327	HP:0030744	Hyaloid vascular remnant and retrolental mass	2	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous		39
HP:0004327	HP:0030743	Glial remnants anterior to the optic disc	2	NDP CL E G H	4693	7678	ORPHA:91495	Persistent hyperplastic primary vitreous		39
HP:0004327	HP:0200071	Peripheral vitreoretinal degeneration	2	P3H2 CL E G H	55214	19317	OMIM:614292	Myopia, high, with cataract and vitreoretinal degeneration	.	5
HP:0004327	HP:0030490	Exudative vitreoretinopathy	2	TSPAN12 CL E G H	23554	21641	OMIM:613310	Exudative vitreoretinopathy 5	.	39
HP:0004327	HP:0030490	Exudative vitreoretinopathy	2	VCAN CL E G H	1462	2464	OMIM:143200	Wagner vitreoretinopathy	HP:0040283 - Occasional	180
HP:0004327	HP:0030490	Exudative vitreoretinopathy	2	ZNF408 CL E G H	79797	20041	OMIM:616468	Exudative vitreoretinopathy 6	.	14