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:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0001089 | Iris atrophy | 1 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0000615 | Abnormal pupil morphology | 1 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0011524 | Iris melanoma | 1 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0007905 | Abnormal iris vasculature | 1 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0500007 | Iris flocculi | 1 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0009737 | Lisch nodules | 1 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0025358 | Uveal ectropion | 1 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0100693 | Iridodonesis | 1 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0011523 | Iris cyst | 1 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0001101 | Iritis | 1 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0011525 | Iris nevus | 1 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0011523 | Iris cyst | 1 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0001101 | Iritis | 1 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0011525 | Iris nevus | 1 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0001089 | Iris atrophy | 1 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0000615 | Abnormal pupil morphology | 1 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0011524 | Iris melanoma | 1 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0007905 | Abnormal iris vasculature | 1 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0100693 | Iridodonesis | 1 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0500007 | Iris flocculi | 1 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0009737 | Lisch nodules | 1 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0025358 | Uveal ectropion | 1 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0001089 | Iris atrophy | 1 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0000615 | Abnormal pupil morphology | 1 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0011524 | Iris melanoma | 1 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0007905 | Abnormal iris vasculature | 1 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0100693 | Iridodonesis | 1 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0500007 | Iris flocculi | 1 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0009737 | Lisch nodules | 1 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0025358 | Uveal ectropion | 1 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0011523 | Iris cyst | 1 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0001101 | Iritis | 1 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0011525 | Iris nevus | 1 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0001101 | Iritis | 1 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0011523 | Iris cyst | 1 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0011525 | Iris nevus | 1 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0011524 | Iris melanoma | 1 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0007905 | Abnormal iris vasculature | 1 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0001089 | Iris atrophy | 1 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0000615 | Abnormal pupil morphology | 1 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0009737 | Lisch nodules | 1 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0025358 | Uveal ectropion | 1 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0100693 | Iridodonesis | 1 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0500007 | Iris flocculi | 1 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0001089 | Iris atrophy | 1 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0000615 | Abnormal pupil morphology | 1 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0011524 | Iris melanoma | 1 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0007905 | Abnormal iris vasculature | 1 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0100693 | Iridodonesis | 1 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0500007 | Iris flocculi | 1 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0009737 | Lisch nodules | 1 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0025358 | Uveal ectropion | 1 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0011523 | Iris cyst | 1 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0001101 | Iritis | 1 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0011525 | Iris nevus | 1 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0011523 | Iris cyst | 1 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0001101 | Iritis | 1 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0011525 | Iris nevus | 1 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0001089 | Iris atrophy | 1 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0000615 | Abnormal pupil morphology | 1 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0011524 | Iris melanoma | 1 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0007905 | Abnormal iris vasculature | 1 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0100693 | Iridodonesis | 1 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0500007 | Iris flocculi | 1 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0009737 | Lisch nodules | 1 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0025358 | Uveal ectropion | 1 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0001089 | Iris atrophy | 1 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0000615 | Abnormal pupil morphology | 1 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0011524 | Iris melanoma | 1 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0007905 | Abnormal iris vasculature | 1 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0100693 | Iridodonesis | 1 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0500007 | Iris flocculi | 1 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0009737 | Lisch nodules | 1 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0025358 | Uveal ectropion | 1 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0011523 | Iris cyst | 1 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0001101 | Iritis | 1 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0011525 | Iris nevus | 1 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0001101 | Iritis | 1 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0011523 | Iris cyst | 1 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0011525 | Iris nevus | 1 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0011524 | Iris melanoma | 1 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0007905 | Abnormal iris vasculature | 1 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0001089 | Iris atrophy | 1 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0000615 | Abnormal pupil morphology | 1 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0009737 | Lisch nodules | 1 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0025358 | Uveal ectropion | 1 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0100693 | Iridodonesis | 1 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0500007 | Iris flocculi | 1 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0001089 | Iris atrophy | 1 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0000615 | Abnormal pupil morphology | 1 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0011524 | Iris melanoma | 1 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0007905 | Abnormal iris vasculature | 1 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0100693 | Iridodonesis | 1 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0500007 | Iris flocculi | 1 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0009737 | Lisch nodules | 1 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0025358 | Uveal ectropion | 1 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0011523 | Iris cyst | 1 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0001101 | Iritis | 1 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0011525 | Iris nevus | 1 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0100693 | Iridodonesis | 1 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0500007 | Iris flocculi | 1 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0025358 | Uveal ectropion | 1 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0011523 | Iris cyst | 1 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0001101 | Iritis | 1 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0011525 | Iris nevus | 1 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0007905 | Abnormal iris vasculature | 1 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0001089 | Iris atrophy | 1 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0000615 | Abnormal pupil morphology | 1 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0011524 | Iris melanoma | 1 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0009737 | Lisch nodules | 1 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0011525 | Iris nevus | 1 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0001089 | Iris atrophy | 1 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0000615 | Abnormal pupil morphology | 1 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0011524 | Iris melanoma | 1 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0007905 | Abnormal iris vasculature | 1 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0100693 | Iridodonesis | 1 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0500007 | Iris flocculi | 1 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0009737 | Lisch nodules | 1 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0025358 | Uveal ectropion | 1 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0011523 | Iris cyst | 1 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0001101 | Iritis | 1 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0001089 | Iris atrophy | 1 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0000615 | Abnormal pupil morphology | 1 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0011524 | Iris melanoma | 1 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0007905 | Abnormal iris vasculature | 1 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0100693 | Iridodonesis | 1 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0500007 | Iris flocculi | 1 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0009737 | Lisch nodules | 1 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0025358 | Uveal ectropion | 1 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0011523 | Iris cyst | 1 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0001101 | Iritis | 1 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0011525 | Iris nevus | 1 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0500007 | Iris flocculi | 1 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0009737 | Lisch nodules | 1 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0025358 | Uveal ectropion | 1 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0100693 | Iridodonesis | 1 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0001101 | Iritis | 1 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0011523 | Iris cyst | 1 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0011525 | Iris nevus | 1 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0000615 | Abnormal pupil morphology | 1 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0011524 | Iris melanoma | 1 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0007905 | Abnormal iris vasculature | 1 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0001089 | Iris atrophy | 1 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0011525 | Iris nevus | 1 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0001089 | Iris atrophy | 1 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0000615 | Abnormal pupil morphology | 1 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0011524 | Iris melanoma | 1 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0007905 | Abnormal iris vasculature | 1 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0100693 | Iridodonesis | 1 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0500007 | Iris flocculi | 1 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0009737 | Lisch nodules | 1 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0025358 | Uveal ectropion | 1 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0011523 | Iris cyst | 1 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0001101 | Iritis | 1 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0100693 | Iridodonesis | 1 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0500007 | Iris flocculi | 1 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0009737 | Lisch nodules | 1 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0025358 | Uveal ectropion | 1 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0011523 | Iris cyst | 1 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0001101 | Iritis | 1 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0011525 | Iris nevus | 1 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0001089 | Iris atrophy | 1 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0000615 | Abnormal pupil morphology | 1 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0011524 | Iris melanoma | 1 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0007905 | Abnormal iris vasculature | 1 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0011525 | Iris nevus | 1 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0001089 | Iris atrophy | 1 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0000615 | Abnormal pupil morphology | 1 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0011524 | Iris melanoma | 1 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0007905 | Abnormal iris vasculature | 1 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0025358 | Uveal ectropion | 1 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0100693 | Iridodonesis | 1 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0500007 | Iris flocculi | 1 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0009737 | Lisch nodules | 1 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0011523 | Iris cyst | 1 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0001101 | Iritis | 1 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0009918 | Ectopia pupillae | 2 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0011500 | Polycoria | 2 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0012775 | Stellate iris | 2 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0009916 | Anisocoria | 2 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0025319 | Rubeosis iridis | 2 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0009917 | Persistent pupillary membrane | 2 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0007676 | Hypoplasia of the iris | 2 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0007730 | Iris hypopigmentation | 2 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0012805 | Iris transillumination defect | 2 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0011497 | Iris neovascularization | 2 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0025492 | Microcoria | 2 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0000526 | Aniridia | 2 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0001088 | Brushfield spots | 2 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0012634 | Iris pigment dispersion | 2 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0025309 | Abnormal pupil shape | 2 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0012635 | Iris hypoperfusion | 2 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0000555 | Leukocoria | 2 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0200064 | Asymmetry of iris pigmentation | 2 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0000635 | Blue irides | 2 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0001088 | Brushfield spots | 2 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0012805 | Iris transillumination defect | 2 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0011497 | Iris neovascularization | 2 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0025492 | Microcoria | 2 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0000526 | Aniridia | 2 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0000635 | Blue irides | 2 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0012634 | Iris pigment dispersion | 2 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0025309 | Abnormal pupil shape | 2 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0012635 | Iris hypoperfusion | 2 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0000555 | Leukocoria | 2 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0200064 | Asymmetry of iris pigmentation | 2 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0009918 | Ectopia pupillae | 2 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0011500 | Polycoria | 2 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0007676 | Hypoplasia of the iris | 2 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0007730 | Iris hypopigmentation | 2 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0012775 | Stellate iris | 2 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0009916 | Anisocoria | 2 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0025319 | Rubeosis iridis | 2 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0009917 | Persistent pupillary membrane | 2 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0011500 | Polycoria | 2 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0009918 | Ectopia pupillae | 2 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0009917 | Persistent pupillary membrane | 2 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0007676 | Hypoplasia of the iris | 2 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0007730 | Iris hypopigmentation | 2 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0012775 | Stellate iris | 2 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0009916 | Anisocoria | 2 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0025319 | Rubeosis iridis | 2 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0025492 | Microcoria | 2 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0000526 | Aniridia | 2 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0001088 | Brushfield spots | 2 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0012805 | Iris transillumination defect | 2 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0011497 | Iris neovascularization | 2 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0200064 | Asymmetry of iris pigmentation | 2 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0000635 | Blue irides | 2 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0012634 | Iris pigment dispersion | 2 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0025309 | Abnormal pupil shape | 2 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0012635 | Iris hypoperfusion | 2 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0000555 | Leukocoria | 2 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0011497 | Iris neovascularization | 2 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0025492 | Microcoria | 2 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0000526 | Aniridia | 2 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0001088 | Brushfield spots | 2 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0012805 | Iris transillumination defect | 2 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0025309 | Abnormal pupil shape | 2 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0012635 | Iris hypoperfusion | 2 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0000555 | Leukocoria | 2 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0200064 | Asymmetry of iris pigmentation | 2 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0000635 | Blue irides | 2 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0012634 | Iris pigment dispersion | 2 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0009918 | Ectopia pupillae | 2 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0011500 | Polycoria | 2 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0009916 | Anisocoria | 2 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0025319 | Rubeosis iridis | 2 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0009917 | Persistent pupillary membrane | 2 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0007676 | Hypoplasia of the iris | 2 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0007730 | Iris hypopigmentation | 2 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0012775 | Stellate iris | 2 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0009918 | Ectopia pupillae | 2 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0011500 | Polycoria | 2 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0012775 | Stellate iris | 2 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0009916 | Anisocoria | 2 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0025319 | Rubeosis iridis | 2 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0009917 | Persistent pupillary membrane | 2 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0007676 | Hypoplasia of the iris | 2 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0007730 | Iris hypopigmentation | 2 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0012805 | Iris transillumination defect | 2 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0011497 | Iris neovascularization | 2 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0025492 | Microcoria | 2 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0000526 | Aniridia | 2 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0001088 | Brushfield spots | 2 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0012634 | Iris pigment dispersion | 2 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0025309 | Abnormal pupil shape | 2 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0012635 | Iris hypoperfusion | 2 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0000555 | Leukocoria | 2 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0200064 | Asymmetry of iris pigmentation | 2 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0000635 | Blue irides | 2 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0000526 | Aniridia | 2 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0001088 | Brushfield spots | 2 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0012805 | Iris transillumination defect | 2 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0011497 | Iris neovascularization | 2 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0025492 | Microcoria | 2 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0000635 | Blue irides | 2 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0012634 | Iris pigment dispersion | 2 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0025309 | Abnormal pupil shape | 2 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0012635 | Iris hypoperfusion | 2 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0000555 | Leukocoria | 2 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0200064 | Asymmetry of iris pigmentation | 2 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0009918 | Ectopia pupillae | 2 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0011500 | Polycoria | 2 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0007676 | Hypoplasia of the iris | 2 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0007730 | Iris hypopigmentation | 2 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0012775 | Stellate iris | 2 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0009916 | Anisocoria | 2 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0025319 | Rubeosis iridis | 2 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0009917 | Persistent pupillary membrane | 2 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0011500 | Polycoria | 2 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0009918 | Ectopia pupillae | 2 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0025319 | Rubeosis iridis | 2 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0009917 | Persistent pupillary membrane | 2 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0007676 | Hypoplasia of the iris | 2 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0007730 | Iris hypopigmentation | 2 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0012775 | Stellate iris | 2 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0009916 | Anisocoria | 2 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0025492 | Microcoria | 2 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0000526 | Aniridia | 2 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0001088 | Brushfield spots | 2 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0012805 | Iris transillumination defect | 2 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0011497 | Iris neovascularization | 2 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0200064 | Asymmetry of iris pigmentation | 2 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0000635 | Blue irides | 2 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0012634 | Iris pigment dispersion | 2 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0025309 | Abnormal pupil shape | 2 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0012635 | Iris hypoperfusion | 2 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0000555 | Leukocoria | 2 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0011497 | Iris neovascularization | 2 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0025492 | Microcoria | 2 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0000526 | Aniridia | 2 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0001088 | Brushfield spots | 2 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0012805 | Iris transillumination defect | 2 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0025309 | Abnormal pupil shape | 2 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0012635 | Iris hypoperfusion | 2 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0000555 | Leukocoria | 2 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0200064 | Asymmetry of iris pigmentation | 2 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0000635 | Blue irides | 2 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0012634 | Iris pigment dispersion | 2 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0009918 | Ectopia pupillae | 2 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0011500 | Polycoria | 2 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0009916 | Anisocoria | 2 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0025319 | Rubeosis iridis | 2 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0009917 | Persistent pupillary membrane | 2 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0007676 | Hypoplasia of the iris | 2 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0007730 | Iris hypopigmentation | 2 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0012775 | Stellate iris | 2 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0009918 | Ectopia pupillae | 2 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0011500 | Polycoria | 2 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0012775 | Stellate iris | 2 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0009916 | Anisocoria | 2 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0025319 | Rubeosis iridis | 2 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0009917 | Persistent pupillary membrane | 2 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0007676 | Hypoplasia of the iris | 2 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0007730 | Iris hypopigmentation | 2 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0012805 | Iris transillumination defect | 2 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0011497 | Iris neovascularization | 2 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0025492 | Microcoria | 2 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0000526 | Aniridia | 2 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0001088 | Brushfield spots | 2 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0012634 | Iris pigment dispersion | 2 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0025309 | Abnormal pupil shape | 2 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0012635 | Iris hypoperfusion | 2 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0000555 | Leukocoria | 2 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0200064 | Asymmetry of iris pigmentation | 2 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0000635 | Blue irides | 2 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0007676 | Hypoplasia of the iris | 2 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0007730 | Iris hypopigmentation | 2 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0012775 | Stellate iris | 2 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0009916 | Anisocoria | 2 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0009917 | Persistent pupillary membrane | 2 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0011497 | Iris neovascularization | 2 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0000526 | Aniridia | 2 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0001088 | Brushfield spots | 2 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0012805 | Iris transillumination defect | 2 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0025492 | Microcoria | 2 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0000635 | Blue irides | 2 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0012635 | Iris hypoperfusion | 2 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0200064 | Asymmetry of iris pigmentation | 2 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0012634 | Iris pigment dispersion | 2 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0025309 | Abnormal pupil shape | 2 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0000555 | Leukocoria | 2 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0009918 | Ectopia pupillae | 2 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0011500 | Polycoria | 2 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0025319 | Rubeosis iridis | 2 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0000555 | Leukocoria | 2 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0200064 | Asymmetry of iris pigmentation | 2 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0000635 | Blue irides | 2 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0012634 | Iris pigment dispersion | 2 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0025309 | Abnormal pupil shape | 2 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0012635 | Iris hypoperfusion | 2 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0011500 | Polycoria | 2 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0009918 | Ectopia pupillae | 2 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0025319 | Rubeosis iridis | 2 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0009917 | Persistent pupillary membrane | 2 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0007676 | Hypoplasia of the iris | 2 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0007730 | Iris hypopigmentation | 2 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0012775 | Stellate iris | 2 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0009916 | Anisocoria | 2 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0011497 | Iris neovascularization | 2 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0025492 | Microcoria | 2 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0000526 | Aniridia | 2 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0001088 | Brushfield spots | 2 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0012805 | Iris transillumination defect | 2 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0011500 | Polycoria | 2 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0009918 | Ectopia pupillae | 2 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0009917 | Persistent pupillary membrane | 2 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0007676 | Hypoplasia of the iris | 2 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0007730 | Iris hypopigmentation | 2 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0012775 | Stellate iris | 2 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0009916 | Anisocoria | 2 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0025319 | Rubeosis iridis | 2 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0000526 | Aniridia | 2 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0001088 | Brushfield spots | 2 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0012805 | Iris transillumination defect | 2 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0011497 | Iris neovascularization | 2 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0025492 | Microcoria | 2 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0200064 | Asymmetry of iris pigmentation | 2 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0000635 | Blue irides | 2 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0012634 | Iris pigment dispersion | 2 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0025309 | Abnormal pupil shape | 2 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0012635 | Iris hypoperfusion | 2 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0000555 | Leukocoria | 2 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0009916 | Anisocoria | 2 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0025319 | Rubeosis iridis | 2 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0009917 | Persistent pupillary membrane | 2 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0007676 | Hypoplasia of the iris | 2 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0007730 | Iris hypopigmentation | 2 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0012775 | Stellate iris | 2 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0011497 | Iris neovascularization | 2 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0025492 | Microcoria | 2 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0000526 | Aniridia | 2 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0001088 | Brushfield spots | 2 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0012805 | Iris transillumination defect | 2 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0025309 | Abnormal pupil shape | 2 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0012635 | Iris hypoperfusion | 2 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0000555 | Leukocoria | 2 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0200064 | Asymmetry of iris pigmentation | 2 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0000635 | Blue irides | 2 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0012634 | Iris pigment dispersion | 2 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0009918 | Ectopia pupillae | 2 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0011500 | Polycoria | 2 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0012634 | Iris pigment dispersion | 2 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0025309 | Abnormal pupil shape | 2 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0012635 | Iris hypoperfusion | 2 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0000555 | Leukocoria | 2 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0200064 | Asymmetry of iris pigmentation | 2 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0000635 | Blue irides | 2 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0009918 | Ectopia pupillae | 2 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0011500 | Polycoria | 2 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0007730 | Iris hypopigmentation | 2 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0012775 | Stellate iris | 2 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0009916 | Anisocoria | 2 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0025319 | Rubeosis iridis | 2 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0009917 | Persistent pupillary membrane | 2 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0007676 | Hypoplasia of the iris | 2 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0012805 | Iris transillumination defect | 2 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0011497 | Iris neovascularization | 2 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0025492 | Microcoria | 2 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0000526 | Aniridia | 2 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0001088 | Brushfield spots | 2 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0007676 | Hypoplasia of the iris | 2 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0007730 | Iris hypopigmentation | 2 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0012775 | Stellate iris | 2 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0009916 | Anisocoria | 2 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0025319 | Rubeosis iridis | 2 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0009917 | Persistent pupillary membrane | 2 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0000526 | Aniridia | 2 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0001088 | Brushfield spots | 2 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0012805 | Iris transillumination defect | 2 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0011497 | Iris neovascularization | 2 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0025492 | Microcoria | 2 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0000635 | Blue irides | 2 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0012634 | Iris pigment dispersion | 2 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0025309 | Abnormal pupil shape | 2 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0012635 | Iris hypoperfusion | 2 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0000555 | Leukocoria | 2 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0200064 | Asymmetry of iris pigmentation | 2 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0009918 | Ectopia pupillae | 2 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0011500 | Polycoria | 2 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0000555 | Leukocoria | 2 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0200064 | Asymmetry of iris pigmentation | 2 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0000635 | Blue irides | 2 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0012634 | Iris pigment dispersion | 2 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0025309 | Abnormal pupil shape | 2 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0012635 | Iris hypoperfusion | 2 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0011500 | Polycoria | 2 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0009918 | Ectopia pupillae | 2 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0025319 | Rubeosis iridis | 2 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0009917 | Persistent pupillary membrane | 2 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0007676 | Hypoplasia of the iris | 2 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0007730 | Iris hypopigmentation | 2 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0012775 | Stellate iris | 2 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0009916 | Anisocoria | 2 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0011497 | Iris neovascularization | 2 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0025492 | Microcoria | 2 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0000526 | Aniridia | 2 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0001088 | Brushfield spots | 2 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0012805 | Iris transillumination defect | 2 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0008345 | Hypoplasia of the iris dilator muscle | 3 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0001107 | Ocular albinism | 3 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0025310 | Oval pupil | 3 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0001100 | Heterochromia iridis | 3 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0000558 | Rieger anomaly | 3 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0007990 | Hypoplastic iris stroma | 3 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0000558 | Rieger anomaly | 3 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0025310 | Oval pupil | 3 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0001100 | Heterochromia iridis | 3 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0007990 | Hypoplastic iris stroma | 3 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0008345 | Hypoplasia of the iris dilator muscle | 3 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0001107 | Ocular albinism | 3 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0008345 | Hypoplasia of the iris dilator muscle | 3 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0001107 | Ocular albinism | 3 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0001100 | Heterochromia iridis | 3 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0000558 | Rieger anomaly | 3 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0025310 | Oval pupil | 3 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0007990 | Hypoplastic iris stroma | 3 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0025310 | Oval pupil | 3 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0001100 | Heterochromia iridis | 3 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0000558 | Rieger anomaly | 3 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0007990 | Hypoplastic iris stroma | 3 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0008345 | Hypoplasia of the iris dilator muscle | 3 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0001107 | Ocular albinism | 3 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0008345 | Hypoplasia of the iris dilator muscle | 3 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0001107 | Ocular albinism | 3 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0025310 | Oval pupil | 3 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0001100 | Heterochromia iridis | 3 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0000558 | Rieger anomaly | 3 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0007990 | Hypoplastic iris stroma | 3 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0000558 | Rieger anomaly | 3 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0025310 | Oval pupil | 3 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0001100 | Heterochromia iridis | 3 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0007990 | Hypoplastic iris stroma | 3 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0008345 | Hypoplasia of the iris dilator muscle | 3 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0001107 | Ocular albinism | 3 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0008345 | Hypoplasia of the iris dilator muscle | 3 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0001107 | Ocular albinism | 3 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0001100 | Heterochromia iridis | 3 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0000558 | Rieger anomaly | 3 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0025310 | Oval pupil | 3 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0007990 | Hypoplastic iris stroma | 3 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0025310 | Oval pupil | 3 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0001100 | Heterochromia iridis | 3 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0000558 | Rieger anomaly | 3 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0007990 | Hypoplastic iris stroma | 3 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0008345 | Hypoplasia of the iris dilator muscle | 3 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0001107 | Ocular albinism | 3 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0001107 | Ocular albinism | 3 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0008345 | Hypoplasia of the iris dilator muscle | 3 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0025310 | Oval pupil | 3 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0001100 | Heterochromia iridis | 3 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0000558 | Rieger anomaly | 3 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0007990 | Hypoplastic iris stroma | 3 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0001100 | Heterochromia iridis | 3 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0000558 | Rieger anomaly | 3 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0025310 | Oval pupil | 3 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0007990 | Hypoplastic iris stroma | 3 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0008345 | Hypoplasia of the iris dilator muscle | 3 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0001107 | Ocular albinism | 3 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0007990 | Hypoplastic iris stroma | 3 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0008345 | Hypoplasia of the iris dilator muscle | 3 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0001107 | Ocular albinism | 3 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0001100 | Heterochromia iridis | 3 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0000558 | Rieger anomaly | 3 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0025310 | Oval pupil | 3 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0008345 | Hypoplasia of the iris dilator muscle | 3 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0001107 | Ocular albinism | 3 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0001100 | Heterochromia iridis | 3 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0000558 | Rieger anomaly | 3 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0025310 | Oval pupil | 3 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0007990 | Hypoplastic iris stroma | 3 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0025310 | Oval pupil | 3 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0001100 | Heterochromia iridis | 3 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0000558 | Rieger anomaly | 3 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0007990 | Hypoplastic iris stroma | 3 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0008345 | Hypoplasia of the iris dilator muscle | 3 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0001107 | Ocular albinism | 3 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0007990 | Hypoplastic iris stroma | 3 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0001107 | Ocular albinism | 3 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0008345 | Hypoplasia of the iris dilator muscle | 3 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0000558 | Rieger anomaly | 3 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0025310 | Oval pupil | 3 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0001100 | Heterochromia iridis | 3 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0000558 | Rieger anomaly | 3 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0025310 | Oval pupil | 3 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0001100 | Heterochromia iridis | 3 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0007990 | Hypoplastic iris stroma | 3 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0008345 | Hypoplasia of the iris dilator muscle | 3 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0001107 | Ocular albinism | 3 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0007990 | Hypoplastic iris stroma | 3 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0008345 | Hypoplasia of the iris dilator muscle | 3 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0001107 | Ocular albinism | 3 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0001100 | Heterochromia iridis | 3 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0000558 | Rieger anomaly | 3 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0025310 | Oval pupil | 3 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0009781 | Lester's sign | 4 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0007818 | Central heterochromia | 4 | ACTA2 CL E G H | 59 | 91387 | | | | ORPHA | 1 | | 428 | 130 | 102620 |
HP:0000525 | HP:0009781 | Lester's sign | 4 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0007818 | Central heterochromia | 4 | ELN CL E G H | 2006 | 91387 | | | | ORPHA | 1 | | 763 | 3327 | 130160 |
HP:0000525 | HP:0009781 | Lester's sign | 4 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0007818 | Central heterochromia | 4 | FBN1 CL E G H | 2200 | 91387 | | | | ORPHA | 1 | | 5970 | 3603 | 134797 |
HP:0000525 | HP:0009781 | Lester's sign | 4 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0007818 | Central heterochromia | 4 | FOXE3 CL E G H | 2301 | 91387 | | | | ORPHA | 1 | | 256 | 3808 | 601094 |
HP:0000525 | HP:0009781 | Lester's sign | 4 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0007818 | Central heterochromia | 4 | LOX CL E G H | 4015 | 91387 | | | | ORPHA | 1 | | 272 | 6664 | 153455 |
HP:0000525 | HP:0009781 | Lester's sign | 4 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0007818 | Central heterochromia | 4 | MAT2A CL E G H | 4144 | 91387 | | | | ORPHA | 1 | | 164 | 6904 | 601468 |
HP:0000525 | HP:0009781 | Lester's sign | 4 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0007818 | Central heterochromia | 4 | MFAP5 CL E G H | 8076 | 91387 | | | | ORPHA | 1 | | 186 | 29673 | 601103 |
HP:0000525 | HP:0009781 | Lester's sign | 4 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0007818 | Central heterochromia | 4 | MYH11 CL E G H | 4629 | 91387 | | | | ORPHA | 1 | | 2721 | 7569 | 160745 |
HP:0000525 | HP:0009781 | Lester's sign | 4 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0007818 | Central heterochromia | 4 | MYLK CL E G H | 4638 | 91387 | | | | ORPHA | 1 | | 1445 | 7590 | 600922 |
HP:0000525 | HP:0009781 | Lester's sign | 4 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0007818 | Central heterochromia | 4 | PRKG1 CL E G H | 5592 | 91387 | | | | ORPHA | 1 | | 526 | 9414 | 176894 |
HP:0000525 | HP:0009781 | Lester's sign | 4 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0007818 | Central heterochromia | 4 | SMAD3 CL E G H | 4088 | 91387 | | | | ORPHA | 1 | | 834 | 6769 | 603109 |
HP:0000525 | HP:0009781 | Lester's sign | 4 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0007818 | Central heterochromia | 4 | TBR1 CL E G H | 10716 | 1617 | | | | ORPHA | 1 | | 159 | 11590 | 604616 |
HP:0000525 | HP:0007818 | Central heterochromia | 4 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0009781 | Lester's sign | 4 | TGFB2 CL E G H | 7042 | 91387 | | | | ORPHA | 1 | | 540 | 11768 | 190220 |
HP:0000525 | HP:0009781 | Lester's sign | 4 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0007818 | Central heterochromia | 4 | TGFB3 CL E G H | 7043 | 91387 | | | | ORPHA | 1 | | 469 | 11769 | 190230 |
HP:0000525 | HP:0007818 | Central heterochromia | 4 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0009781 | Lester's sign | 4 | TGFBR1 CL E G H | 7046 | 91387 | | | | ORPHA | 1 | | 778 | 11772 | 190181 |
HP:0000525 | HP:0009781 | Lester's sign | 4 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HP:0000525 | HP:0007818 | Central heterochromia | 4 | TGFBR2 CL E G H | 7048 | 91387 | | | | ORPHA | 1 | | 842 | 11773 | 190182 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000525 | HP:0000525 | Abnormality iris morphology | 0 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0001101 | Iritis | 1 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0011523 | Iris cyst | 1 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0011525 | Iris nevus | 1 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0008053 | Aplasia/Hypoplasia of the iris | 1 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0000612 | Iris coloboma | 1 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0011524 | Iris melanoma | 1 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0007905 | Abnormal iris vasculature | 1 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0008034 | Abnormal iris pigmentation | 1 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0001089 | Iris atrophy | 1 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0000615 | Abnormal pupil morphology | 1 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0009737 | Lisch nodules | 1 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0025358 | Uveal ectropion | 1 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0100693 | Iridodonesis | 1 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0500007 | Iris flocculi | 1 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0011497 | Iris neovascularization | 2 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0025492 | Microcoria | 2 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0000526 | Aniridia | 2 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0001088 | Brushfield spots | 2 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0012805 | Iris transillumination defect | 2 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0012635 | Iris hypoperfusion | 2 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0000555 | Leukocoria | 2 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0200064 | Asymmetry of iris pigmentation | 2 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0000635 | Blue irides | 2 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0012634 | Iris pigment dispersion | 2 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0025309 | Abnormal pupil shape | 2 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0009918 | Ectopia pupillae | 2 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0011500 | Polycoria | 2 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0009916 | Anisocoria | 2 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0025319 | Rubeosis iridis | 2 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0009917 | Persistent pupillary membrane | 2 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0007676 | Hypoplasia of the iris | 2 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0007730 | Iris hypopigmentation | 2 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0012775 | Stellate iris | 2 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0025310 | Oval pupil | 3 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0001100 | Heterochromia iridis | 3 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0000558 | Rieger anomaly | 3 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0007990 | Hypoplastic iris stroma | 3 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0008345 | Hypoplasia of the iris dilator muscle | 3 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0001107 | Ocular albinism | 3 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0009781 | Lester's sign | 4 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |
HP:0000525 | HP:0007818 | Central heterochromia | 4 | GJA1 CL E G H | 2697 | 2710 | Hm syndrome | | | ORPHA | 0 | | 221 | 4274 | 121014 |