Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	DiseaseId	DiseaseName	DiseaseMIM	ConceptID	Source	Typical association	ClinVar variants	HGNC ID	GeneMIM
HPO disease - gene - phenotype typical associations:
HP:0000539	HP:0000539	Abnormality of refraction	0	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1071	2348	600140
HP:0000539	HP:0000539	Abnormality of refraction	0	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1012	2348	600140
HP:0000539	HP:0000539	Abnormality of refraction	0	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	731	3373	602700
HP:0000539	HP:0000539	Abnormality of refraction	0	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	678	3373	602700
HP:0000539	HP:0000545	Myopia	1	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1071	2348	600140
HP:0000539	HP:0000483	Astigmatism	1	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1071	2348	600140
HP:0000539	HP:0012803	Anisometropia	1	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1071	2348	600140
HP:0000539	HP:0000545	Myopia	1	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1012	2348	600140
HP:0000539	HP:0000483	Astigmatism	1	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1012	2348	600140
HP:0000539	HP:0012803	Anisometropia	1	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1012	2348	600140
HP:0000539	HP:0000540	Hypermetropia	1	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1071	2348	600140
HP:0000539	HP:0000540	Hypermetropia	1	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1012	2348	600140
HP:0000539	HP:0000540	Hypermetropia	1	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	731	3373	602700
HP:0000539	HP:0000540	Hypermetropia	1	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	678	3373	602700
HP:0000539	HP:0000483	Astigmatism	1	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	731	3373	602700
HP:0000539	HP:0012803	Anisometropia	1	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	731	3373	602700
HP:0000539	HP:0000545	Myopia	1	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	731	3373	602700
HP:0000539	HP:0012803	Anisometropia	1	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	678	3373	602700
HP:0000539	HP:0000545	Myopia	1	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	678	3373	602700
HP:0000539	HP:0000483	Astigmatism	1	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	678	3373	602700
HP:0000539	HP:0031728	Mild hypermetropia	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1071	2348	600140
HP:0000539	HP:0031790	Mixed astigmatism	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1071	2348	600140
HP:0000539	HP:0031787	Oblique astigmatism	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1071	2348	600140
HP:0000539	HP:0011003	High myopia	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1071	2348	600140
HP:0000539	HP:0025573	Mild myopia	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1071	2348	600140
HP:0000539	HP:0025612	Corneal astigmatism	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1071	2348	600140
HP:0000539	HP:0008499	High hypermetropia	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1071	2348	600140
HP:0000539	HP:0031792	Irregular astigmatism	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1071	2348	600140
HP:0000539	HP:0031728	Mild hypermetropia	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1012	2348	600140
HP:0000539	HP:0031790	Mixed astigmatism	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1012	2348	600140
HP:0000539	HP:0031787	Oblique astigmatism	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1012	2348	600140
HP:0000539	HP:0011003	High myopia	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1012	2348	600140
HP:0000539	HP:0025573	Mild myopia	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1012	2348	600140
HP:0000539	HP:0025612	Corneal astigmatism	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1012	2348	600140
HP:0000539	HP:0008499	High hypermetropia	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1012	2348	600140
HP:0000539	HP:0031792	Irregular astigmatism	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1012	2348	600140
HP:0000539	HP:0031791	Lenticular astigmatism	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1071	2348	600140
HP:0000539	HP:0031729	Moderate hypermetropia	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1071	2348	600140
HP:0000539	HP:0500041	Myopic astigmatism	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1071	2348	600140
HP:0000539	HP:0031730	Axial myopia	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1071	2348	600140
HP:0000539	HP:0031788	With the rule astigmatism	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1071	2348	600140
HP:0000539	HP:0500066	Latent myopia	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1071	2348	600140
HP:0000539	HP:0031789	Against the rule astigmatism	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1071	2348	600140
HP:0000539	HP:0031624	Moderate myopia	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1071	2348	600140
HP:0000539	HP:0000484	Hyperopic astigmatism	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1071	2348	600140
HP:0000539	HP:0031791	Lenticular astigmatism	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1012	2348	600140
HP:0000539	HP:0031729	Moderate hypermetropia	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1012	2348	600140
HP:0000539	HP:0500041	Myopic astigmatism	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1012	2348	600140
HP:0000539	HP:0031730	Axial myopia	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1012	2348	600140
HP:0000539	HP:0031788	With the rule astigmatism	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1012	2348	600140
HP:0000539	HP:0500066	Latent myopia	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1012	2348	600140
HP:0000539	HP:0031789	Against the rule astigmatism	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1012	2348	600140
HP:0000539	HP:0031624	Moderate myopia	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1012	2348	600140
HP:0000539	HP:0000484	Hyperopic astigmatism	2	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1012	2348	600140
HP:0000539	HP:0500066	Latent myopia	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	731	3373	602700
HP:0000539	HP:0031789	Against the rule astigmatism	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	731	3373	602700
HP:0000539	HP:0031624	Moderate myopia	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	731	3373	602700
HP:0000539	HP:0000484	Hyperopic astigmatism	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	731	3373	602700
HP:0000539	HP:0031791	Lenticular astigmatism	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	731	3373	602700
HP:0000539	HP:0031729	Moderate hypermetropia	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	731	3373	602700
HP:0000539	HP:0500041	Myopic astigmatism	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	731	3373	602700
HP:0000539	HP:0031730	Axial myopia	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	731	3373	602700
HP:0000539	HP:0031788	With the rule astigmatism	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	731	3373	602700
HP:0000539	HP:0500066	Latent myopia	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	678	3373	602700
HP:0000539	HP:0031789	Against the rule astigmatism	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	678	3373	602700
HP:0000539	HP:0031624	Moderate myopia	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	678	3373	602700
HP:0000539	HP:0000484	Hyperopic astigmatism	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	678	3373	602700
HP:0000539	HP:0031791	Lenticular astigmatism	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	678	3373	602700
HP:0000539	HP:0031729	Moderate hypermetropia	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	678	3373	602700
HP:0000539	HP:0500041	Myopic astigmatism	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	678	3373	602700
HP:0000539	HP:0031730	Axial myopia	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	678	3373	602700
HP:0000539	HP:0031788	With the rule astigmatism	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	678	3373	602700
HP:0000539	HP:0025573	Mild myopia	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	731	3373	602700
HP:0000539	HP:0025612	Corneal astigmatism	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	731	3373	602700
HP:0000539	HP:0008499	High hypermetropia	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	731	3373	602700
HP:0000539	HP:0031792	Irregular astigmatism	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	731	3373	602700
HP:0000539	HP:0031728	Mild hypermetropia	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	731	3373	602700
HP:0000539	HP:0031790	Mixed astigmatism	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	731	3373	602700
HP:0000539	HP:0031787	Oblique astigmatism	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	731	3373	602700
HP:0000539	HP:0011003	High myopia	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	731	3373	602700
HP:0000539	HP:0025573	Mild myopia	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	678	3373	602700
HP:0000539	HP:0025612	Corneal astigmatism	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	678	3373	602700
HP:0000539	HP:0008499	High hypermetropia	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	678	3373	602700
HP:0000539	HP:0031792	Irregular astigmatism	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	678	3373	602700
HP:0000539	HP:0031728	Mild hypermetropia	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	678	3373	602700
HP:0000539	HP:0031790	Mixed astigmatism	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	678	3373	602700
HP:0000539	HP:0031787	Oblique astigmatism	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	678	3373	602700
HP:0000539	HP:0011003	High myopia	2	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	678	3373	602700
HP:0000539	HP:0500042	Latent hypermetropia	3	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1071	2348	600140
HP:0000539	HP:0500042	Latent hypermetropia	3	CREBBP CL E G H	1387	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	1012	2348	600140
HP:0000539	HP:0500042	Latent hypermetropia	3	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	731	3373	602700
HP:0000539	HP:0500042	Latent hypermetropia	3	EP300 CL E G H	2033	180849	Rubinstein-Taybi syndrome	180849	C0035934	OMIM	1	678	3373	602700
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0000539	HP:0000539	Abnormality of refraction	0	BAP1 CL E G H	8314	39044				ORPHA	0	1683	950	603089
HP:0000539	HP:0000539	Abnormality of refraction	0	BAP1 CL E G H	8314	39044				ORPHA	0	1514	950	603089
HP:0000539	HP:0000539	Abnormality of refraction	0	CYSLTR2 CL E G H	57105	39044				ORPHA	0	67	18274	605666
HP:0000539	HP:0000539	Abnormality of refraction	0	CYSLTR2 CL E G H	57105	39044				ORPHA	0	65	18274	605666
HP:0000539	HP:0000539	Abnormality of refraction	0	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	704	3327	130160
HP:0000539	HP:0000539	Abnormality of refraction	0	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	657	3327	130160
HP:0000539	HP:0000539	Abnormality of refraction	0	GNA11 CL E G H	2767	39044				ORPHA	0	150	4379	139313
HP:0000539	HP:0000539	Abnormality of refraction	0	GNA11 CL E G H	2767	39044				ORPHA	0	129	4379	139313
HP:0000539	HP:0000539	Abnormality of refraction	0	GNAQ CL E G H	2776	39044				ORPHA	0	75	4390	600998
HP:0000539	HP:0000539	Abnormality of refraction	0	GNAQ CL E G H	2776	39044				ORPHA	0	74	4390	600998
HP:0000539	HP:0000539	Abnormality of refraction	0	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	201	12744	605678
HP:0000539	HP:0000539	Abnormality of refraction	0	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	200	12744	605678
HP:0000539	HP:0000539	Abnormality of refraction	0	SF3B1 CL E G H	23451	39044				ORPHA	0	68	10768	605590
HP:0000539	HP:0000545	Myopia	1	BAP1 CL E G H	8314	39044				ORPHA	0	1683	950	603089
HP:0000539	HP:0000483	Astigmatism	1	BAP1 CL E G H	8314	39044				ORPHA	0	1683	950	603089
HP:0000539	HP:0012803	Anisometropia	1	BAP1 CL E G H	8314	39044				ORPHA	0	1683	950	603089
HP:0000539	HP:0000545	Myopia	1	BAP1 CL E G H	8314	39044				ORPHA	0	1514	950	603089
HP:0000539	HP:0000483	Astigmatism	1	BAP1 CL E G H	8314	39044				ORPHA	0	1514	950	603089
HP:0000539	HP:0012803	Anisometropia	1	BAP1 CL E G H	8314	39044				ORPHA	0	1514	950	603089
HP:0000539	HP:0000540	Hypermetropia	1	BAP1 CL E G H	8314	39044				ORPHA	0	1683	950	603089
HP:0000539	HP:0000540	Hypermetropia	1	BAP1 CL E G H	8314	39044				ORPHA	0	1514	950	603089
HP:0000539	HP:0000540	Hypermetropia	1	CYSLTR2 CL E G H	57105	39044				ORPHA	0	67	18274	605666
HP:0000539	HP:0000540	Hypermetropia	1	CYSLTR2 CL E G H	57105	39044				ORPHA	0	65	18274	605666
HP:0000539	HP:0000545	Myopia	1	CYSLTR2 CL E G H	57105	39044				ORPHA	0	67	18274	605666
HP:0000539	HP:0000483	Astigmatism	1	CYSLTR2 CL E G H	57105	39044				ORPHA	0	67	18274	605666
HP:0000539	HP:0012803	Anisometropia	1	CYSLTR2 CL E G H	57105	39044				ORPHA	0	67	18274	605666
HP:0000539	HP:0000545	Myopia	1	CYSLTR2 CL E G H	57105	39044				ORPHA	0	65	18274	605666
HP:0000539	HP:0000483	Astigmatism	1	CYSLTR2 CL E G H	57105	39044				ORPHA	0	65	18274	605666
HP:0000539	HP:0012803	Anisometropia	1	CYSLTR2 CL E G H	57105	39044				ORPHA	0	65	18274	605666
HP:0000539	HP:0000545	Myopia	1	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	704	3327	130160
HP:0000539	HP:0000483	Astigmatism	1	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	704	3327	130160
HP:0000539	HP:0012803	Anisometropia	1	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	704	3327	130160
HP:0000539	HP:0000545	Myopia	1	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	657	3327	130160
HP:0000539	HP:0000483	Astigmatism	1	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	657	3327	130160
HP:0000539	HP:0012803	Anisometropia	1	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	657	3327	130160
HP:0000539	HP:0000540	Hypermetropia	1	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	704	3327	130160
HP:0000539	HP:0000540	Hypermetropia	1	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	657	3327	130160
HP:0000539	HP:0000545	Myopia	1	GNA11 CL E G H	2767	39044				ORPHA	0	150	4379	139313
HP:0000539	HP:0000483	Astigmatism	1	GNA11 CL E G H	2767	39044				ORPHA	0	150	4379	139313
HP:0000539	HP:0012803	Anisometropia	1	GNA11 CL E G H	2767	39044				ORPHA	0	150	4379	139313
HP:0000539	HP:0000545	Myopia	1	GNA11 CL E G H	2767	39044				ORPHA	0	129	4379	139313
HP:0000539	HP:0000483	Astigmatism	1	GNA11 CL E G H	2767	39044				ORPHA	0	129	4379	139313
HP:0000539	HP:0012803	Anisometropia	1	GNA11 CL E G H	2767	39044				ORPHA	0	129	4379	139313
HP:0000539	HP:0000540	Hypermetropia	1	GNA11 CL E G H	2767	39044				ORPHA	0	150	4379	139313
HP:0000539	HP:0000540	Hypermetropia	1	GNA11 CL E G H	2767	39044				ORPHA	0	129	4379	139313
HP:0000539	HP:0000540	Hypermetropia	1	GNAQ CL E G H	2776	39044				ORPHA	0	75	4390	600998
HP:0000539	HP:0000540	Hypermetropia	1	GNAQ CL E G H	2776	39044				ORPHA	0	74	4390	600998
HP:0000539	HP:0000545	Myopia	1	GNAQ CL E G H	2776	39044				ORPHA	0	75	4390	600998
HP:0000539	HP:0000483	Astigmatism	1	GNAQ CL E G H	2776	39044				ORPHA	0	75	4390	600998
HP:0000539	HP:0012803	Anisometropia	1	GNAQ CL E G H	2776	39044				ORPHA	0	75	4390	600998
HP:0000539	HP:0000545	Myopia	1	GNAQ CL E G H	2776	39044				ORPHA	0	74	4390	600998
HP:0000539	HP:0000483	Astigmatism	1	GNAQ CL E G H	2776	39044				ORPHA	0	74	4390	600998
HP:0000539	HP:0012803	Anisometropia	1	GNAQ CL E G H	2776	39044				ORPHA	0	74	4390	600998
HP:0000539	HP:0000540	Hypermetropia	1	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	201	12744	605678
HP:0000539	HP:0000540	Hypermetropia	1	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	200	12744	605678
HP:0000539	HP:0012803	Anisometropia	1	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	201	12744	605678
HP:0000539	HP:0000545	Myopia	1	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	201	12744	605678
HP:0000539	HP:0000483	Astigmatism	1	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	201	12744	605678
HP:0000539	HP:0000545	Myopia	1	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	200	12744	605678
HP:0000539	HP:0000483	Astigmatism	1	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	200	12744	605678
HP:0000539	HP:0012803	Anisometropia	1	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	200	12744	605678
HP:0000539	HP:0000545	Myopia	1	SF3B1 CL E G H	23451	39044				ORPHA	0	68	10768	605590
HP:0000539	HP:0000483	Astigmatism	1	SF3B1 CL E G H	23451	39044				ORPHA	0	68	10768	605590
HP:0000539	HP:0000540	Hypermetropia	1	SF3B1 CL E G H	23451	39044				ORPHA	0	68	10768	605590
HP:0000539	HP:0012803	Anisometropia	1	SF3B1 CL E G H	23451	39044				ORPHA	0	68	10768	605590
HP:0000539	HP:0031790	Mixed astigmatism	2	BAP1 CL E G H	8314	39044				ORPHA	0	1683	950	603089
HP:0000539	HP:0031787	Oblique astigmatism	2	BAP1 CL E G H	8314	39044				ORPHA	0	1683	950	603089
HP:0000539	HP:0011003	High myopia	2	BAP1 CL E G H	8314	39044				ORPHA	0	1683	950	603089
HP:0000539	HP:0025573	Mild myopia	2	BAP1 CL E G H	8314	39044				ORPHA	0	1683	950	603089
HP:0000539	HP:0025612	Corneal astigmatism	2	BAP1 CL E G H	8314	39044				ORPHA	0	1683	950	603089
HP:0000539	HP:0008499	High hypermetropia	2	BAP1 CL E G H	8314	39044				ORPHA	0	1683	950	603089
HP:0000539	HP:0031792	Irregular astigmatism	2	BAP1 CL E G H	8314	39044				ORPHA	0	1683	950	603089
HP:0000539	HP:0031728	Mild hypermetropia	2	BAP1 CL E G H	8314	39044				ORPHA	0	1683	950	603089
HP:0000539	HP:0031790	Mixed astigmatism	2	BAP1 CL E G H	8314	39044				ORPHA	0	1514	950	603089
HP:0000539	HP:0031787	Oblique astigmatism	2	BAP1 CL E G H	8314	39044				ORPHA	0	1514	950	603089
HP:0000539	HP:0011003	High myopia	2	BAP1 CL E G H	8314	39044				ORPHA	0	1514	950	603089
HP:0000539	HP:0025573	Mild myopia	2	BAP1 CL E G H	8314	39044				ORPHA	0	1514	950	603089
HP:0000539	HP:0025612	Corneal astigmatism	2	BAP1 CL E G H	8314	39044				ORPHA	0	1514	950	603089
HP:0000539	HP:0008499	High hypermetropia	2	BAP1 CL E G H	8314	39044				ORPHA	0	1514	950	603089
HP:0000539	HP:0031792	Irregular astigmatism	2	BAP1 CL E G H	8314	39044				ORPHA	0	1514	950	603089
HP:0000539	HP:0031728	Mild hypermetropia	2	BAP1 CL E G H	8314	39044				ORPHA	0	1514	950	603089
HP:0000539	HP:0031729	Moderate hypermetropia	2	BAP1 CL E G H	8314	39044				ORPHA	0	1683	950	603089
HP:0000539	HP:0500041	Myopic astigmatism	2	BAP1 CL E G H	8314	39044				ORPHA	0	1683	950	603089
HP:0000539	HP:0031730	Axial myopia	2	BAP1 CL E G H	8314	39044				ORPHA	0	1683	950	603089
HP:0000539	HP:0031788	With the rule astigmatism	2	BAP1 CL E G H	8314	39044				ORPHA	0	1683	950	603089
HP:0000539	HP:0500066	Latent myopia	2	BAP1 CL E G H	8314	39044				ORPHA	0	1683	950	603089
HP:0000539	HP:0031789	Against the rule astigmatism	2	BAP1 CL E G H	8314	39044				ORPHA	0	1683	950	603089
HP:0000539	HP:0031624	Moderate myopia	2	BAP1 CL E G H	8314	39044				ORPHA	0	1683	950	603089
HP:0000539	HP:0000484	Hyperopic astigmatism	2	BAP1 CL E G H	8314	39044				ORPHA	0	1683	950	603089
HP:0000539	HP:0031791	Lenticular astigmatism	2	BAP1 CL E G H	8314	39044				ORPHA	0	1683	950	603089
HP:0000539	HP:0500041	Myopic astigmatism	2	BAP1 CL E G H	8314	39044				ORPHA	0	1514	950	603089
HP:0000539	HP:0031730	Axial myopia	2	BAP1 CL E G H	8314	39044				ORPHA	0	1514	950	603089
HP:0000539	HP:0031788	With the rule astigmatism	2	BAP1 CL E G H	8314	39044				ORPHA	0	1514	950	603089
HP:0000539	HP:0500066	Latent myopia	2	BAP1 CL E G H	8314	39044				ORPHA	0	1514	950	603089
HP:0000539	HP:0031789	Against the rule astigmatism	2	BAP1 CL E G H	8314	39044				ORPHA	0	1514	950	603089
HP:0000539	HP:0031624	Moderate myopia	2	BAP1 CL E G H	8314	39044				ORPHA	0	1514	950	603089
HP:0000539	HP:0000484	Hyperopic astigmatism	2	BAP1 CL E G H	8314	39044				ORPHA	0	1514	950	603089
HP:0000539	HP:0031791	Lenticular astigmatism	2	BAP1 CL E G H	8314	39044				ORPHA	0	1514	950	603089
HP:0000539	HP:0031729	Moderate hypermetropia	2	BAP1 CL E G H	8314	39044				ORPHA	0	1514	950	603089
HP:0000539	HP:0031789	Against the rule astigmatism	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	67	18274	605666
HP:0000539	HP:0031624	Moderate myopia	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	67	18274	605666
HP:0000539	HP:0000484	Hyperopic astigmatism	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	67	18274	605666
HP:0000539	HP:0031791	Lenticular astigmatism	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	67	18274	605666
HP:0000539	HP:0031729	Moderate hypermetropia	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	67	18274	605666
HP:0000539	HP:0500041	Myopic astigmatism	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	67	18274	605666
HP:0000539	HP:0031730	Axial myopia	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	67	18274	605666
HP:0000539	HP:0031788	With the rule astigmatism	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	67	18274	605666
HP:0000539	HP:0500066	Latent myopia	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	67	18274	605666
HP:0000539	HP:0031624	Moderate myopia	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	65	18274	605666
HP:0000539	HP:0000484	Hyperopic astigmatism	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	65	18274	605666
HP:0000539	HP:0031791	Lenticular astigmatism	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	65	18274	605666
HP:0000539	HP:0031729	Moderate hypermetropia	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	65	18274	605666
HP:0000539	HP:0500041	Myopic astigmatism	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	65	18274	605666
HP:0000539	HP:0031730	Axial myopia	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	65	18274	605666
HP:0000539	HP:0031788	With the rule astigmatism	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	65	18274	605666
HP:0000539	HP:0500066	Latent myopia	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	65	18274	605666
HP:0000539	HP:0031789	Against the rule astigmatism	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	65	18274	605666
HP:0000539	HP:0025573	Mild myopia	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	67	18274	605666
HP:0000539	HP:0025612	Corneal astigmatism	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	67	18274	605666
HP:0000539	HP:0008499	High hypermetropia	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	67	18274	605666
HP:0000539	HP:0031792	Irregular astigmatism	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	67	18274	605666
HP:0000539	HP:0031728	Mild hypermetropia	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	67	18274	605666
HP:0000539	HP:0031790	Mixed astigmatism	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	67	18274	605666
HP:0000539	HP:0031787	Oblique astigmatism	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	67	18274	605666
HP:0000539	HP:0011003	High myopia	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	67	18274	605666
HP:0000539	HP:0025573	Mild myopia	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	65	18274	605666
HP:0000539	HP:0025612	Corneal astigmatism	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	65	18274	605666
HP:0000539	HP:0008499	High hypermetropia	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	65	18274	605666
HP:0000539	HP:0031792	Irregular astigmatism	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	65	18274	605666
HP:0000539	HP:0031728	Mild hypermetropia	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	65	18274	605666
HP:0000539	HP:0031790	Mixed astigmatism	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	65	18274	605666
HP:0000539	HP:0031787	Oblique astigmatism	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	65	18274	605666
HP:0000539	HP:0011003	High myopia	2	CYSLTR2 CL E G H	57105	39044				ORPHA	0	65	18274	605666
HP:0000539	HP:0031728	Mild hypermetropia	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	704	3327	130160
HP:0000539	HP:0031790	Mixed astigmatism	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	704	3327	130160
HP:0000539	HP:0031787	Oblique astigmatism	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	704	3327	130160
HP:0000539	HP:0011003	High myopia	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	704	3327	130160
HP:0000539	HP:0025573	Mild myopia	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	704	3327	130160
HP:0000539	HP:0025612	Corneal astigmatism	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	704	3327	130160
HP:0000539	HP:0008499	High hypermetropia	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	704	3327	130160
HP:0000539	HP:0031792	Irregular astigmatism	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	704	3327	130160
HP:0000539	HP:0031790	Mixed astigmatism	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	657	3327	130160
HP:0000539	HP:0031787	Oblique astigmatism	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	657	3327	130160
HP:0000539	HP:0011003	High myopia	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	657	3327	130160
HP:0000539	HP:0025573	Mild myopia	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	657	3327	130160
HP:0000539	HP:0025612	Corneal astigmatism	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	657	3327	130160
HP:0000539	HP:0008499	High hypermetropia	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	657	3327	130160
HP:0000539	HP:0031792	Irregular astigmatism	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	657	3327	130160
HP:0000539	HP:0031728	Mild hypermetropia	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	657	3327	130160
HP:0000539	HP:0031791	Lenticular astigmatism	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	704	3327	130160
HP:0000539	HP:0031729	Moderate hypermetropia	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	704	3327	130160
HP:0000539	HP:0500041	Myopic astigmatism	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	704	3327	130160
HP:0000539	HP:0031730	Axial myopia	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	704	3327	130160
HP:0000539	HP:0031788	With the rule astigmatism	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	704	3327	130160
HP:0000539	HP:0500066	Latent myopia	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	704	3327	130160
HP:0000539	HP:0031789	Against the rule astigmatism	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	704	3327	130160
HP:0000539	HP:0031624	Moderate myopia	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	704	3327	130160
HP:0000539	HP:0000484	Hyperopic astigmatism	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	704	3327	130160
HP:0000539	HP:0031729	Moderate hypermetropia	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	657	3327	130160
HP:0000539	HP:0500041	Myopic astigmatism	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	657	3327	130160
HP:0000539	HP:0031730	Axial myopia	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	657	3327	130160
HP:0000539	HP:0031788	With the rule astigmatism	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	657	3327	130160
HP:0000539	HP:0500066	Latent myopia	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	657	3327	130160
HP:0000539	HP:0031789	Against the rule astigmatism	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	657	3327	130160
HP:0000539	HP:0031624	Moderate myopia	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	657	3327	130160
HP:0000539	HP:0000484	Hyperopic astigmatism	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	657	3327	130160
HP:0000539	HP:0031791	Lenticular astigmatism	2	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	657	3327	130160
HP:0000539	HP:0031790	Mixed astigmatism	2	GNA11 CL E G H	2767	39044				ORPHA	0	150	4379	139313
HP:0000539	HP:0031787	Oblique astigmatism	2	GNA11 CL E G H	2767	39044				ORPHA	0	150	4379	139313
HP:0000539	HP:0011003	High myopia	2	GNA11 CL E G H	2767	39044				ORPHA	0	150	4379	139313
HP:0000539	HP:0025573	Mild myopia	2	GNA11 CL E G H	2767	39044				ORPHA	0	150	4379	139313
HP:0000539	HP:0025612	Corneal astigmatism	2	GNA11 CL E G H	2767	39044				ORPHA	0	150	4379	139313
HP:0000539	HP:0008499	High hypermetropia	2	GNA11 CL E G H	2767	39044				ORPHA	0	150	4379	139313
HP:0000539	HP:0031792	Irregular astigmatism	2	GNA11 CL E G H	2767	39044				ORPHA	0	150	4379	139313
HP:0000539	HP:0031728	Mild hypermetropia	2	GNA11 CL E G H	2767	39044				ORPHA	0	150	4379	139313
HP:0000539	HP:0031787	Oblique astigmatism	2	GNA11 CL E G H	2767	39044				ORPHA	0	129	4379	139313
HP:0000539	HP:0011003	High myopia	2	GNA11 CL E G H	2767	39044				ORPHA	0	129	4379	139313
HP:0000539	HP:0025573	Mild myopia	2	GNA11 CL E G H	2767	39044				ORPHA	0	129	4379	139313
HP:0000539	HP:0025612	Corneal astigmatism	2	GNA11 CL E G H	2767	39044				ORPHA	0	129	4379	139313
HP:0000539	HP:0008499	High hypermetropia	2	GNA11 CL E G H	2767	39044				ORPHA	0	129	4379	139313
HP:0000539	HP:0031792	Irregular astigmatism	2	GNA11 CL E G H	2767	39044				ORPHA	0	129	4379	139313
HP:0000539	HP:0031728	Mild hypermetropia	2	GNA11 CL E G H	2767	39044				ORPHA	0	129	4379	139313
HP:0000539	HP:0031790	Mixed astigmatism	2	GNA11 CL E G H	2767	39044				ORPHA	0	129	4379	139313
HP:0000539	HP:0500041	Myopic astigmatism	2	GNA11 CL E G H	2767	39044				ORPHA	0	150	4379	139313
HP:0000539	HP:0031730	Axial myopia	2	GNA11 CL E G H	2767	39044				ORPHA	0	150	4379	139313
HP:0000539	HP:0031788	With the rule astigmatism	2	GNA11 CL E G H	2767	39044				ORPHA	0	150	4379	139313
HP:0000539	HP:0500066	Latent myopia	2	GNA11 CL E G H	2767	39044				ORPHA	0	150	4379	139313
HP:0000539	HP:0031789	Against the rule astigmatism	2	GNA11 CL E G H	2767	39044				ORPHA	0	150	4379	139313
HP:0000539	HP:0031624	Moderate myopia	2	GNA11 CL E G H	2767	39044				ORPHA	0	150	4379	139313
HP:0000539	HP:0000484	Hyperopic astigmatism	2	GNA11 CL E G H	2767	39044				ORPHA	0	150	4379	139313
HP:0000539	HP:0031791	Lenticular astigmatism	2	GNA11 CL E G H	2767	39044				ORPHA	0	150	4379	139313
HP:0000539	HP:0031729	Moderate hypermetropia	2	GNA11 CL E G H	2767	39044				ORPHA	0	150	4379	139313
HP:0000539	HP:0500041	Myopic astigmatism	2	GNA11 CL E G H	2767	39044				ORPHA	0	129	4379	139313
HP:0000539	HP:0031730	Axial myopia	2	GNA11 CL E G H	2767	39044				ORPHA	0	129	4379	139313
HP:0000539	HP:0031788	With the rule astigmatism	2	GNA11 CL E G H	2767	39044				ORPHA	0	129	4379	139313
HP:0000539	HP:0500066	Latent myopia	2	GNA11 CL E G H	2767	39044				ORPHA	0	129	4379	139313
HP:0000539	HP:0031789	Against the rule astigmatism	2	GNA11 CL E G H	2767	39044				ORPHA	0	129	4379	139313
HP:0000539	HP:0031624	Moderate myopia	2	GNA11 CL E G H	2767	39044				ORPHA	0	129	4379	139313
HP:0000539	HP:0000484	Hyperopic astigmatism	2	GNA11 CL E G H	2767	39044				ORPHA	0	129	4379	139313
HP:0000539	HP:0031791	Lenticular astigmatism	2	GNA11 CL E G H	2767	39044				ORPHA	0	129	4379	139313
HP:0000539	HP:0031729	Moderate hypermetropia	2	GNA11 CL E G H	2767	39044				ORPHA	0	129	4379	139313
HP:0000539	HP:0031624	Moderate myopia	2	GNAQ CL E G H	2776	39044				ORPHA	0	75	4390	600998
HP:0000539	HP:0000484	Hyperopic astigmatism	2	GNAQ CL E G H	2776	39044				ORPHA	0	75	4390	600998
HP:0000539	HP:0031791	Lenticular astigmatism	2	GNAQ CL E G H	2776	39044				ORPHA	0	75	4390	600998
HP:0000539	HP:0031729	Moderate hypermetropia	2	GNAQ CL E G H	2776	39044				ORPHA	0	75	4390	600998
HP:0000539	HP:0500041	Myopic astigmatism	2	GNAQ CL E G H	2776	39044				ORPHA	0	75	4390	600998
HP:0000539	HP:0031730	Axial myopia	2	GNAQ CL E G H	2776	39044				ORPHA	0	75	4390	600998
HP:0000539	HP:0031788	With the rule astigmatism	2	GNAQ CL E G H	2776	39044				ORPHA	0	75	4390	600998
HP:0000539	HP:0500066	Latent myopia	2	GNAQ CL E G H	2776	39044				ORPHA	0	75	4390	600998
HP:0000539	HP:0031789	Against the rule astigmatism	2	GNAQ CL E G H	2776	39044				ORPHA	0	75	4390	600998
HP:0000539	HP:0031624	Moderate myopia	2	GNAQ CL E G H	2776	39044				ORPHA	0	74	4390	600998
HP:0000539	HP:0000484	Hyperopic astigmatism	2	GNAQ CL E G H	2776	39044				ORPHA	0	74	4390	600998
HP:0000539	HP:0031791	Lenticular astigmatism	2	GNAQ CL E G H	2776	39044				ORPHA	0	74	4390	600998
HP:0000539	HP:0031729	Moderate hypermetropia	2	GNAQ CL E G H	2776	39044				ORPHA	0	74	4390	600998
HP:0000539	HP:0500041	Myopic astigmatism	2	GNAQ CL E G H	2776	39044				ORPHA	0	74	4390	600998
HP:0000539	HP:0031730	Axial myopia	2	GNAQ CL E G H	2776	39044				ORPHA	0	74	4390	600998
HP:0000539	HP:0031788	With the rule astigmatism	2	GNAQ CL E G H	2776	39044				ORPHA	0	74	4390	600998
HP:0000539	HP:0500066	Latent myopia	2	GNAQ CL E G H	2776	39044				ORPHA	0	74	4390	600998
HP:0000539	HP:0031789	Against the rule astigmatism	2	GNAQ CL E G H	2776	39044				ORPHA	0	74	4390	600998
HP:0000539	HP:0025573	Mild myopia	2	GNAQ CL E G H	2776	39044				ORPHA	0	75	4390	600998
HP:0000539	HP:0025612	Corneal astigmatism	2	GNAQ CL E G H	2776	39044				ORPHA	0	75	4390	600998
HP:0000539	HP:0008499	High hypermetropia	2	GNAQ CL E G H	2776	39044				ORPHA	0	75	4390	600998
HP:0000539	HP:0031792	Irregular astigmatism	2	GNAQ CL E G H	2776	39044				ORPHA	0	75	4390	600998
HP:0000539	HP:0031728	Mild hypermetropia	2	GNAQ CL E G H	2776	39044				ORPHA	0	75	4390	600998
HP:0000539	HP:0031790	Mixed astigmatism	2	GNAQ CL E G H	2776	39044				ORPHA	0	75	4390	600998
HP:0000539	HP:0031787	Oblique astigmatism	2	GNAQ CL E G H	2776	39044				ORPHA	0	75	4390	600998
HP:0000539	HP:0011003	High myopia	2	GNAQ CL E G H	2776	39044				ORPHA	0	75	4390	600998
HP:0000539	HP:0025612	Corneal astigmatism	2	GNAQ CL E G H	2776	39044				ORPHA	0	74	4390	600998
HP:0000539	HP:0008499	High hypermetropia	2	GNAQ CL E G H	2776	39044				ORPHA	0	74	4390	600998
HP:0000539	HP:0031792	Irregular astigmatism	2	GNAQ CL E G H	2776	39044				ORPHA	0	74	4390	600998
HP:0000539	HP:0031728	Mild hypermetropia	2	GNAQ CL E G H	2776	39044				ORPHA	0	74	4390	600998
HP:0000539	HP:0031790	Mixed astigmatism	2	GNAQ CL E G H	2776	39044				ORPHA	0	74	4390	600998
HP:0000539	HP:0031787	Oblique astigmatism	2	GNAQ CL E G H	2776	39044				ORPHA	0	74	4390	600998
HP:0000539	HP:0011003	High myopia	2	GNAQ CL E G H	2776	39044				ORPHA	0	74	4390	600998
HP:0000539	HP:0025573	Mild myopia	2	GNAQ CL E G H	2776	39044				ORPHA	0	74	4390	600998
HP:0000539	HP:0500066	Latent myopia	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	201	12744	605678
HP:0000539	HP:0031789	Against the rule astigmatism	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	201	12744	605678
HP:0000539	HP:0031624	Moderate myopia	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	201	12744	605678
HP:0000539	HP:0000484	Hyperopic astigmatism	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	201	12744	605678
HP:0000539	HP:0031791	Lenticular astigmatism	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	201	12744	605678
HP:0000539	HP:0031729	Moderate hypermetropia	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	201	12744	605678
HP:0000539	HP:0500041	Myopic astigmatism	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	201	12744	605678
HP:0000539	HP:0031730	Axial myopia	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	201	12744	605678
HP:0000539	HP:0031788	With the rule astigmatism	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	201	12744	605678
HP:0000539	HP:0031789	Against the rule astigmatism	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	200	12744	605678
HP:0000539	HP:0031624	Moderate myopia	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	200	12744	605678
HP:0000539	HP:0000484	Hyperopic astigmatism	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	200	12744	605678
HP:0000539	HP:0031791	Lenticular astigmatism	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	200	12744	605678
HP:0000539	HP:0031729	Moderate hypermetropia	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	200	12744	605678
HP:0000539	HP:0500041	Myopic astigmatism	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	200	12744	605678
HP:0000539	HP:0031730	Axial myopia	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	200	12744	605678
HP:0000539	HP:0031788	With the rule astigmatism	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	200	12744	605678
HP:0000539	HP:0500066	Latent myopia	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	200	12744	605678
HP:0000539	HP:0025573	Mild myopia	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	201	12744	605678
HP:0000539	HP:0025612	Corneal astigmatism	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	201	12744	605678
HP:0000539	HP:0008499	High hypermetropia	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	201	12744	605678
HP:0000539	HP:0031792	Irregular astigmatism	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	201	12744	605678
HP:0000539	HP:0031728	Mild hypermetropia	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	201	12744	605678
HP:0000539	HP:0031790	Mixed astigmatism	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	201	12744	605678
HP:0000539	HP:0031787	Oblique astigmatism	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	201	12744	605678
HP:0000539	HP:0011003	High myopia	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	201	12744	605678
HP:0000539	HP:0025573	Mild myopia	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	200	12744	605678
HP:0000539	HP:0025612	Corneal astigmatism	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	200	12744	605678
HP:0000539	HP:0008499	High hypermetropia	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	200	12744	605678
HP:0000539	HP:0031792	Irregular astigmatism	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	200	12744	605678
HP:0000539	HP:0031728	Mild hypermetropia	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	200	12744	605678
HP:0000539	HP:0031790	Mixed astigmatism	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	200	12744	605678
HP:0000539	HP:0031787	Oblique astigmatism	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	200	12744	605678
HP:0000539	HP:0011003	High myopia	2	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	200	12744	605678
HP:0000539	HP:0031730	Axial myopia	2	SF3B1 CL E G H	23451	39044				ORPHA	0	68	10768	605590
HP:0000539	HP:0031789	Against the rule astigmatism	2	SF3B1 CL E G H	23451	39044				ORPHA	0	68	10768	605590
HP:0000539	HP:0031624	Moderate myopia	2	SF3B1 CL E G H	23451	39044				ORPHA	0	68	10768	605590
HP:0000539	HP:0031791	Lenticular astigmatism	2	SF3B1 CL E G H	23451	39044				ORPHA	0	68	10768	605590
HP:0000539	HP:0031788	With the rule astigmatism	2	SF3B1 CL E G H	23451	39044				ORPHA	0	68	10768	605590
HP:0000539	HP:0025573	Mild myopia	2	SF3B1 CL E G H	23451	39044				ORPHA	0	68	10768	605590
HP:0000539	HP:0031792	Irregular astigmatism	2	SF3B1 CL E G H	23451	39044				ORPHA	0	68	10768	605590
HP:0000539	HP:0031787	Oblique astigmatism	2	SF3B1 CL E G H	23451	39044				ORPHA	0	68	10768	605590
HP:0000539	HP:0008499	High hypermetropia	2	SF3B1 CL E G H	23451	39044				ORPHA	0	68	10768	605590
HP:0000539	HP:0031729	Moderate hypermetropia	2	SF3B1 CL E G H	23451	39044				ORPHA	0	68	10768	605590
HP:0000539	HP:0500066	Latent myopia	2	SF3B1 CL E G H	23451	39044				ORPHA	0	68	10768	605590
HP:0000539	HP:0000484	Hyperopic astigmatism	2	SF3B1 CL E G H	23451	39044				ORPHA	0	68	10768	605590
HP:0000539	HP:0500041	Myopic astigmatism	2	SF3B1 CL E G H	23451	39044				ORPHA	0	68	10768	605590
HP:0000539	HP:0031728	Mild hypermetropia	2	SF3B1 CL E G H	23451	39044				ORPHA	0	68	10768	605590
HP:0000539	HP:0011003	High myopia	2	SF3B1 CL E G H	23451	39044				ORPHA	0	68	10768	605590
HP:0000539	HP:0025612	Corneal astigmatism	2	SF3B1 CL E G H	23451	39044				ORPHA	0	68	10768	605590
HP:0000539	HP:0031790	Mixed astigmatism	2	SF3B1 CL E G H	23451	39044				ORPHA	0	68	10768	605590
HP:0000539	HP:0500042	Latent hypermetropia	3	BAP1 CL E G H	8314	39044				ORPHA	0	1683	950	603089
HP:0000539	HP:0500042	Latent hypermetropia	3	BAP1 CL E G H	8314	39044				ORPHA	0	1514	950	603089
HP:0000539	HP:0500042	Latent hypermetropia	3	CYSLTR2 CL E G H	57105	39044				ORPHA	0	67	18274	605666
HP:0000539	HP:0500042	Latent hypermetropia	3	CYSLTR2 CL E G H	57105	39044				ORPHA	0	65	18274	605666
HP:0000539	HP:0500042	Latent hypermetropia	3	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	704	3327	130160
HP:0000539	HP:0500042	Latent hypermetropia	3	ELN CL E G H	2006	194050	Williams syndrome	194050	C0175702	OMIM	0	657	3327	130160
HP:0000539	HP:0500042	Latent hypermetropia	3	GNA11 CL E G H	2767	39044				ORPHA	0	150	4379	139313
HP:0000539	HP:0500042	Latent hypermetropia	3	GNA11 CL E G H	2767	39044				ORPHA	0	129	4379	139313
HP:0000539	HP:0500042	Latent hypermetropia	3	GNAQ CL E G H	2776	39044				ORPHA	0	75	4390	600998
HP:0000539	HP:0500042	Latent hypermetropia	3	GNAQ CL E G H	2776	39044				ORPHA	0	74	4390	600998
HP:0000539	HP:0500042	Latent hypermetropia	3	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	201	12744	605678
HP:0000539	HP:0500042	Latent hypermetropia	3	MLXIPL CL E G H	51085	194050	Williams syndrome	194050	C0175702	OMIM	0	200	12744	605678
HP:0000539	HP:0500042	Latent hypermetropia	3	SF3B1 CL E G H	23451	39044				ORPHA	0	68	10768	605590