Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
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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 | | 1255 | 2348 | 600140 |
HP:0000539 | HP:0000539 | Abnormality of refraction | 0 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0000539 | HP:0000540 | Hypermetropia | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0000539 | HP:0012803 | Anisometropia | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0000539 | HP:0000545 | Myopia | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0000539 | HP:0000483 | Astigmatism | 1 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0000539 | HP:0000545 | Myopia | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0000539 | HP:0000483 | Astigmatism | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0000539 | HP:0000540 | Hypermetropia | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0000539 | HP:0012803 | Anisometropia | 1 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0000539 | HP:0031729 | Moderate hypermetropia | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0000539 | HP:0500066 | Latent myopia | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0000539 | HP:0000484 | Hyperopic astigmatism | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0000539 | HP:0500041 | Myopic astigmatism | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0000539 | HP:0031728 | Mild hypermetropia | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0000539 | HP:0011003 | High myopia | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0000539 | HP:0025612 | Corneal astigmatism | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0000539 | HP:0031790 | Mixed astigmatism | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0000539 | HP:0031730 | Axial myopia | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 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 | | 1255 | 2348 | 600140 |
HP:0000539 | HP:0031624 | Moderate myopia | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0000539 | HP:0031791 | Lenticular astigmatism | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 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 | | 1255 | 2348 | 600140 |
HP:0000539 | HP:0025573 | Mild myopia | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0000539 | HP:0031792 | Irregular astigmatism | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0000539 | HP:0031787 | Oblique astigmatism | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0000539 | HP:0008499 | High hypermetropia | 2 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0000539 | HP:0008499 | High hypermetropia | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0000539 | HP:0025573 | Mild myopia | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0000539 | HP:0031792 | Irregular astigmatism | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0000539 | HP:0031787 | Oblique astigmatism | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0000539 | HP:0031729 | Moderate hypermetropia | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0000539 | HP:0500066 | Latent myopia | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0000539 | HP:0000484 | Hyperopic astigmatism | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0000539 | HP:0500041 | Myopic astigmatism | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0000539 | HP:0031728 | Mild hypermetropia | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0000539 | HP:0011003 | High myopia | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0000539 | HP:0025612 | Corneal astigmatism | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0000539 | HP:0031790 | Mixed astigmatism | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0000539 | HP:0031730 | Axial myopia | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 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 | | 835 | 3373 | 602700 |
HP:0000539 | HP:0031624 | Moderate myopia | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 3373 | 602700 |
HP:0000539 | HP:0031791 | Lenticular astigmatism | 2 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 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 | | 835 | 3373 | 602700 |
HP:0000539 | HP:0500042 | Latent hypermetropia | 3 | CREBBP CL E G H | 1387 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 1255 | 2348 | 600140 |
HP:0000539 | HP:0500042 | Latent hypermetropia | 3 | EP300 CL E G H | 2033 | 180849 | Rubinstein-Taybi syndrome | 180849 | C0035934 | OMIM | 1 | | 835 | 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 | | 2132 | 950 | 603089 |
HP:0000539 | HP:0000539 | Abnormality of refraction | 0 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0000539 | HP:0000539 | Abnormality of refraction | 0 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 763 | 3327 | 130160 |
HP:0000539 | HP:0000539 | Abnormality of refraction | 0 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0000539 | HP:0000539 | Abnormality of refraction | 0 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000539 | HP:0000539 | Abnormality of refraction | 0 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 206 | 12744 | 605678 |
HP:0000539 | HP:0000539 | Abnormality of refraction | 0 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0000539 | HP:0000540 | Hypermetropia | 1 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0000539 | HP:0012803 | Anisometropia | 1 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0000539 | HP:0000545 | Myopia | 1 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0000539 | HP:0000483 | Astigmatism | 1 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0000539 | HP:0000545 | Myopia | 1 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0000539 | HP:0000483 | Astigmatism | 1 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0000539 | HP:0000540 | Hypermetropia | 1 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0000539 | HP:0012803 | Anisometropia | 1 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0000539 | HP:0000545 | Myopia | 1 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 763 | 3327 | 130160 |
HP:0000539 | HP:0000483 | Astigmatism | 1 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 763 | 3327 | 130160 |
HP:0000539 | HP:0000540 | Hypermetropia | 1 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 763 | 3327 | 130160 |
HP:0000539 | HP:0012803 | Anisometropia | 1 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 763 | 3327 | 130160 |
HP:0000539 | HP:0000545 | Myopia | 1 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0000539 | HP:0000483 | Astigmatism | 1 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0000539 | HP:0000540 | Hypermetropia | 1 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0000539 | HP:0012803 | Anisometropia | 1 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0000539 | HP:0012803 | Anisometropia | 1 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000539 | HP:0000545 | Myopia | 1 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000539 | HP:0000483 | Astigmatism | 1 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000539 | HP:0000540 | Hypermetropia | 1 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000539 | HP:0012803 | Anisometropia | 1 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 206 | 12744 | 605678 |
HP:0000539 | HP:0000545 | Myopia | 1 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 206 | 12744 | 605678 |
HP:0000539 | HP:0000483 | Astigmatism | 1 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 206 | 12744 | 605678 |
HP:0000539 | HP:0000540 | Hypermetropia | 1 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 206 | 12744 | 605678 |
HP:0000539 | HP:0000540 | Hypermetropia | 1 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0000539 | HP:0012803 | Anisometropia | 1 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0000539 | HP:0000545 | Myopia | 1 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0000539 | HP:0000483 | Astigmatism | 1 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0000539 | HP:0031729 | Moderate hypermetropia | 2 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0000539 | HP:0500066 | Latent myopia | 2 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0000539 | HP:0000484 | Hyperopic astigmatism | 2 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0000539 | HP:0500041 | Myopic astigmatism | 2 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0000539 | HP:0011003 | High myopia | 2 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0000539 | HP:0025612 | Corneal astigmatism | 2 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0000539 | HP:0031790 | Mixed astigmatism | 2 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0000539 | HP:0031728 | Mild hypermetropia | 2 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0000539 | HP:0031730 | Axial myopia | 2 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0000539 | HP:0031789 | Against the rule astigmatism | 2 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0000539 | HP:0031624 | Moderate myopia | 2 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0000539 | HP:0031791 | Lenticular astigmatism | 2 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0000539 | HP:0031788 | With the rule astigmatism | 2 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0000539 | HP:0025573 | Mild myopia | 2 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0000539 | HP:0031792 | Irregular astigmatism | 2 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0000539 | HP:0031787 | Oblique astigmatism | 2 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0000539 | HP:0008499 | High hypermetropia | 2 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0000539 | HP:0008499 | High hypermetropia | 2 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0000539 | HP:0025573 | Mild myopia | 2 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0000539 | HP:0031792 | Irregular astigmatism | 2 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0000539 | HP:0031787 | Oblique astigmatism | 2 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0000539 | HP:0031729 | Moderate hypermetropia | 2 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0000539 | HP:0500066 | Latent myopia | 2 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0000539 | HP:0000484 | Hyperopic astigmatism | 2 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0000539 | HP:0500041 | Myopic astigmatism | 2 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0000539 | HP:0031728 | Mild hypermetropia | 2 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0000539 | HP:0011003 | High myopia | 2 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0000539 | HP:0025612 | Corneal astigmatism | 2 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0000539 | HP:0031790 | Mixed astigmatism | 2 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0000539 | HP:0031730 | Axial myopia | 2 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0000539 | HP:0031789 | Against the rule astigmatism | 2 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0000539 | HP:0031624 | Moderate myopia | 2 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0000539 | HP:0031791 | Lenticular astigmatism | 2 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0000539 | HP:0031788 | With the rule astigmatism | 2 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0000539 | HP:0031791 | Lenticular astigmatism | 2 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 763 | 3327 | 130160 |
HP:0000539 | HP:0031788 | With the rule astigmatism | 2 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 763 | 3327 | 130160 |
HP:0000539 | HP:0031730 | Axial myopia | 2 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 763 | 3327 | 130160 |
HP:0000539 | HP:0031789 | Against the rule astigmatism | 2 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 763 | 3327 | 130160 |
HP:0000539 | HP:0031624 | Moderate myopia | 2 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 763 | 3327 | 130160 |
HP:0000539 | HP:0031787 | Oblique astigmatism | 2 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 763 | 3327 | 130160 |
HP:0000539 | HP:0008499 | High hypermetropia | 2 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 763 | 3327 | 130160 |
HP:0000539 | HP:0025573 | Mild myopia | 2 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 763 | 3327 | 130160 |
HP:0000539 | HP:0031792 | Irregular astigmatism | 2 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 763 | 3327 | 130160 |
HP:0000539 | HP:0500041 | Myopic astigmatism | 2 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 763 | 3327 | 130160 |
HP:0000539 | HP:0031729 | Moderate hypermetropia | 2 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 763 | 3327 | 130160 |
HP:0000539 | HP:0500066 | Latent myopia | 2 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 763 | 3327 | 130160 |
HP:0000539 | HP:0000484 | Hyperopic astigmatism | 2 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 763 | 3327 | 130160 |
HP:0000539 | HP:0031790 | Mixed astigmatism | 2 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 763 | 3327 | 130160 |
HP:0000539 | HP:0031728 | Mild hypermetropia | 2 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 763 | 3327 | 130160 |
HP:0000539 | HP:0011003 | High myopia | 2 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 763 | 3327 | 130160 |
HP:0000539 | HP:0025612 | Corneal astigmatism | 2 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 763 | 3327 | 130160 |
HP:0000539 | HP:0031788 | With the rule astigmatism | 2 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0000539 | HP:0031730 | Axial myopia | 2 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0000539 | HP:0031789 | Against the rule astigmatism | 2 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0000539 | HP:0031624 | Moderate myopia | 2 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0000539 | HP:0031791 | Lenticular astigmatism | 2 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0000539 | HP:0031787 | Oblique astigmatism | 2 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0000539 | HP:0008499 | High hypermetropia | 2 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0000539 | HP:0025573 | Mild myopia | 2 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0000539 | HP:0031792 | Irregular astigmatism | 2 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0000539 | HP:0500041 | Myopic astigmatism | 2 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0000539 | HP:0031729 | Moderate hypermetropia | 2 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0000539 | HP:0500066 | Latent myopia | 2 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0000539 | HP:0000484 | Hyperopic astigmatism | 2 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0000539 | HP:0031728 | Mild hypermetropia | 2 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0000539 | HP:0011003 | High myopia | 2 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0000539 | HP:0025612 | Corneal astigmatism | 2 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0000539 | HP:0031790 | Mixed astigmatism | 2 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0000539 | HP:0025612 | Corneal astigmatism | 2 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000539 | HP:0031790 | Mixed astigmatism | 2 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000539 | HP:0031728 | Mild hypermetropia | 2 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000539 | HP:0011003 | High myopia | 2 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000539 | HP:0031624 | Moderate myopia | 2 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000539 | HP:0031791 | Lenticular astigmatism | 2 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000539 | HP:0031788 | With the rule astigmatism | 2 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000539 | HP:0031730 | Axial myopia | 2 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000539 | HP:0031789 | Against the rule astigmatism | 2 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000539 | HP:0031792 | Irregular astigmatism | 2 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000539 | HP:0031787 | Oblique astigmatism | 2 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000539 | HP:0008499 | High hypermetropia | 2 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000539 | HP:0025573 | Mild myopia | 2 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000539 | HP:0000484 | Hyperopic astigmatism | 2 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000539 | HP:0500041 | Myopic astigmatism | 2 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000539 | HP:0031729 | Moderate hypermetropia | 2 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000539 | HP:0500066 | Latent myopia | 2 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000539 | HP:0025612 | Corneal astigmatism | 2 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 206 | 12744 | 605678 |
HP:0000539 | HP:0031790 | Mixed astigmatism | 2 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 206 | 12744 | 605678 |
HP:0000539 | HP:0031728 | Mild hypermetropia | 2 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 206 | 12744 | 605678 |
HP:0000539 | HP:0011003 | High myopia | 2 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 206 | 12744 | 605678 |
HP:0000539 | HP:0031789 | Against the rule astigmatism | 2 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 206 | 12744 | 605678 |
HP:0000539 | HP:0031624 | Moderate myopia | 2 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 206 | 12744 | 605678 |
HP:0000539 | HP:0031791 | Lenticular astigmatism | 2 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 206 | 12744 | 605678 |
HP:0000539 | HP:0031788 | With the rule astigmatism | 2 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 206 | 12744 | 605678 |
HP:0000539 | HP:0031730 | Axial myopia | 2 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 206 | 12744 | 605678 |
HP:0000539 | HP:0025573 | Mild myopia | 2 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 206 | 12744 | 605678 |
HP:0000539 | HP:0031792 | Irregular astigmatism | 2 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 206 | 12744 | 605678 |
HP:0000539 | HP:0031787 | Oblique astigmatism | 2 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 206 | 12744 | 605678 |
HP:0000539 | HP:0008499 | High hypermetropia | 2 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 206 | 12744 | 605678 |
HP:0000539 | HP:0000484 | Hyperopic astigmatism | 2 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 206 | 12744 | 605678 |
HP:0000539 | HP:0500041 | Myopic astigmatism | 2 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 206 | 12744 | 605678 |
HP:0000539 | HP:0031729 | Moderate hypermetropia | 2 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 206 | 12744 | 605678 |
HP:0000539 | HP:0500066 | Latent myopia | 2 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 206 | 12744 | 605678 |
HP:0000539 | HP:0500066 | Latent myopia | 2 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0000539 | HP:0000484 | Hyperopic astigmatism | 2 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0000539 | HP:0500041 | Myopic astigmatism | 2 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0000539 | HP:0031729 | Moderate hypermetropia | 2 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0000539 | HP:0011003 | High myopia | 2 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0000539 | HP:0025612 | Corneal astigmatism | 2 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0000539 | HP:0031790 | Mixed astigmatism | 2 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0000539 | HP:0031728 | Mild hypermetropia | 2 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0000539 | HP:0031730 | Axial myopia | 2 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0000539 | HP:0031789 | Against the rule astigmatism | 2 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0000539 | HP:0031624 | Moderate myopia | 2 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0000539 | HP:0031791 | Lenticular astigmatism | 2 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0000539 | HP:0031788 | With the rule astigmatism | 2 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0000539 | HP:0025573 | Mild myopia | 2 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0000539 | HP:0031792 | Irregular astigmatism | 2 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0000539 | HP:0031787 | Oblique astigmatism | 2 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0000539 | HP:0008499 | High hypermetropia | 2 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |
HP:0000539 | HP:0500042 | Latent hypermetropia | 3 | BAP1 CL E G H | 8314 | 39044 | | | | ORPHA | 0 | | 2132 | 950 | 603089 |
HP:0000539 | HP:0500042 | Latent hypermetropia | 3 | CYSLTR2 CL E G H | 57105 | 39044 | | | | ORPHA | 0 | | 70 | 18274 | 605666 |
HP:0000539 | HP:0500042 | Latent hypermetropia | 3 | ELN CL E G H | 2006 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 763 | 3327 | 130160 |
HP:0000539 | HP:0500042 | Latent hypermetropia | 3 | GNA11 CL E G H | 2767 | 39044 | | | | ORPHA | 0 | | 206 | 4379 | 139313 |
HP:0000539 | HP:0500042 | Latent hypermetropia | 3 | GNAQ CL E G H | 2776 | 39044 | | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000539 | HP:0500042 | Latent hypermetropia | 3 | MLXIPL CL E G H | 51085 | 194050 | Williams syndrome | 194050 | C0175702 | OMIM | 0 | | 206 | 12744 | 605678 |
HP:0000539 | HP:0500042 | Latent hypermetropia | 3 | SF3B1 CL E G H | 23451 | 39044 | | | | ORPHA | 0 | | 76 | 10768 | 605590 |