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:0000610 | HP:0000610 | Abnormal choroid morphology | 0 | ABCA4 CL E G H | 24 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000610 | HP:0000610 | Abnormal choroid morphology | 0 | CLCNKB CL E G H | 1188 | 607364 | Bartter syndrome type 3 | 607364 | C1846343 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0000610 | HP:0000610 | Abnormal choroid morphology | 0 | CNGB3 CL E G H | 54714 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 830 | 2153 | 605080 |
HP:0000610 | HP:0000610 | Abnormal choroid morphology | 0 | ELOVL4 CL E G H | 6785 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0000610 | HP:0000610 | Abnormal choroid morphology | 0 | MFRP CL E G H | 83552 | 35612 | | | | ORPHA | 1 | | 610 | 18121 | 606227 |
HP:0000610 | HP:0000610 | Abnormal choroid morphology | 0 | PROM1 CL E G H | 8842 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000610 | HP:0000610 | Abnormal choroid morphology | 0 | PRPH2 CL E G H | 5961 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000610 | HP:0000610 | Abnormal choroid morphology | 0 | PRSS56 CL E G H | 646960 | 35612 | | | | ORPHA | 1 | | 123 | 39433 | 613858 |
HP:0000610 | HP:0000610 | Abnormal choroid morphology | 0 | TMEM98 CL E G H | 26022 | 35612 | | | | ORPHA | 1 | | 15 | 24529 | 615949 |
HP:0000610 | HP:0001139 | Choroideremia | 1 | ABCA4 CL E G H | 24 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000610 | HP:0025314 | Choroidal nevus | 1 | ABCA4 CL E G H | 24 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000610 | HP:0025568 | Abnormal morphology of the choroidal vasculature | 1 | ABCA4 CL E G H | 24 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000610 | HP:0030952 | Birdshot choroidal lesions | 1 | ABCA4 CL E G H | 24 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000610 | HP:0025148 | Dark choroid | 1 | ABCA4 CL E G H | 24 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000610 | HP:0000532 | Abnormal chorioretinal morphology | 1 | ABCA4 CL E G H | 24 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000610 | HP:0025314 | Choroidal nevus | 1 | CLCNKB CL E G H | 1188 | 607364 | Bartter syndrome type 3 | 607364 | C1846343 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0000610 | HP:0030952 | Birdshot choroidal lesions | 1 | CLCNKB CL E G H | 1188 | 607364 | Bartter syndrome type 3 | 607364 | C1846343 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0000610 | HP:0025568 | Abnormal morphology of the choroidal vasculature | 1 | CLCNKB CL E G H | 1188 | 607364 | Bartter syndrome type 3 | 607364 | C1846343 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0000610 | HP:0025148 | Dark choroid | 1 | CLCNKB CL E G H | 1188 | 607364 | Bartter syndrome type 3 | 607364 | C1846343 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0000610 | HP:0000532 | Abnormal chorioretinal morphology | 1 | CLCNKB CL E G H | 1188 | 607364 | Bartter syndrome type 3 | 607364 | C1846343 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0000610 | HP:0001139 | Choroideremia | 1 | CLCNKB CL E G H | 1188 | 607364 | Bartter syndrome type 3 | 607364 | C1846343 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0000610 | HP:0000532 | Abnormal chorioretinal morphology | 1 | CNGB3 CL E G H | 54714 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 830 | 2153 | 605080 |
HP:0000610 | HP:0025148 | Dark choroid | 1 | CNGB3 CL E G H | 54714 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 830 | 2153 | 605080 |
HP:0000610 | HP:0001139 | Choroideremia | 1 | CNGB3 CL E G H | 54714 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 830 | 2153 | 605080 |
HP:0000610 | HP:0025314 | Choroidal nevus | 1 | CNGB3 CL E G H | 54714 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 830 | 2153 | 605080 |
HP:0000610 | HP:0025568 | Abnormal morphology of the choroidal vasculature | 1 | CNGB3 CL E G H | 54714 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 830 | 2153 | 605080 |
HP:0000610 | HP:0030952 | Birdshot choroidal lesions | 1 | CNGB3 CL E G H | 54714 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 830 | 2153 | 605080 |
HP:0000610 | HP:0030952 | Birdshot choroidal lesions | 1 | ELOVL4 CL E G H | 6785 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0000610 | HP:0025568 | Abnormal morphology of the choroidal vasculature | 1 | ELOVL4 CL E G H | 6785 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0000610 | HP:0025148 | Dark choroid | 1 | ELOVL4 CL E G H | 6785 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0000610 | HP:0000532 | Abnormal chorioretinal morphology | 1 | ELOVL4 CL E G H | 6785 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0000610 | HP:0001139 | Choroideremia | 1 | ELOVL4 CL E G H | 6785 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0000610 | HP:0025314 | Choroidal nevus | 1 | ELOVL4 CL E G H | 6785 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0000610 | HP:0025568 | Abnormal morphology of the choroidal vasculature | 1 | MFRP CL E G H | 83552 | 35612 | | | | ORPHA | 1 | | 610 | 18121 | 606227 |
HP:0000610 | HP:0030952 | Birdshot choroidal lesions | 1 | MFRP CL E G H | 83552 | 35612 | | | | ORPHA | 1 | | 610 | 18121 | 606227 |
HP:0000610 | HP:0025148 | Dark choroid | 1 | MFRP CL E G H | 83552 | 35612 | | | | ORPHA | 1 | | 610 | 18121 | 606227 |
HP:0000610 | HP:0000532 | Abnormal chorioretinal morphology | 1 | MFRP CL E G H | 83552 | 35612 | | | | ORPHA | 1 | | 610 | 18121 | 606227 |
HP:0000610 | HP:0001139 | Choroideremia | 1 | MFRP CL E G H | 83552 | 35612 | | | | ORPHA | 1 | | 610 | 18121 | 606227 |
HP:0000610 | HP:0025314 | Choroidal nevus | 1 | MFRP CL E G H | 83552 | 35612 | | | | ORPHA | 1 | | 610 | 18121 | 606227 |
HP:0000610 | HP:0025314 | Choroidal nevus | 1 | PROM1 CL E G H | 8842 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000610 | HP:0025568 | Abnormal morphology of the choroidal vasculature | 1 | PROM1 CL E G H | 8842 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000610 | HP:0030952 | Birdshot choroidal lesions | 1 | PROM1 CL E G H | 8842 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000610 | HP:0025148 | Dark choroid | 1 | PROM1 CL E G H | 8842 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000610 | HP:0000532 | Abnormal chorioretinal morphology | 1 | PROM1 CL E G H | 8842 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000610 | HP:0001139 | Choroideremia | 1 | PROM1 CL E G H | 8842 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000610 | HP:0001139 | Choroideremia | 1 | PRPH2 CL E G H | 5961 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000610 | HP:0025314 | Choroidal nevus | 1 | PRPH2 CL E G H | 5961 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000610 | HP:0025568 | Abnormal morphology of the choroidal vasculature | 1 | PRPH2 CL E G H | 5961 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000610 | HP:0030952 | Birdshot choroidal lesions | 1 | PRPH2 CL E G H | 5961 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000610 | HP:0000532 | Abnormal chorioretinal morphology | 1 | PRPH2 CL E G H | 5961 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000610 | HP:0025148 | Dark choroid | 1 | PRPH2 CL E G H | 5961 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000610 | HP:0025314 | Choroidal nevus | 1 | PRSS56 CL E G H | 646960 | 35612 | | | | ORPHA | 1 | | 123 | 39433 | 613858 |
HP:0000610 | HP:0025568 | Abnormal morphology of the choroidal vasculature | 1 | PRSS56 CL E G H | 646960 | 35612 | | | | ORPHA | 1 | | 123 | 39433 | 613858 |
HP:0000610 | HP:0030952 | Birdshot choroidal lesions | 1 | PRSS56 CL E G H | 646960 | 35612 | | | | ORPHA | 1 | | 123 | 39433 | 613858 |
HP:0000610 | HP:0000532 | Abnormal chorioretinal morphology | 1 | PRSS56 CL E G H | 646960 | 35612 | | | | ORPHA | 1 | | 123 | 39433 | 613858 |
HP:0000610 | HP:0025148 | Dark choroid | 1 | PRSS56 CL E G H | 646960 | 35612 | | | | ORPHA | 1 | | 123 | 39433 | 613858 |
HP:0000610 | HP:0001139 | Choroideremia | 1 | PRSS56 CL E G H | 646960 | 35612 | | | | ORPHA | 1 | | 123 | 39433 | 613858 |
HP:0000610 | HP:0001139 | Choroideremia | 1 | TMEM98 CL E G H | 26022 | 35612 | | | | ORPHA | 1 | | 15 | 24529 | 615949 |
HP:0000610 | HP:0025314 | Choroidal nevus | 1 | TMEM98 CL E G H | 26022 | 35612 | | | | ORPHA | 1 | | 15 | 24529 | 615949 |
HP:0000610 | HP:0030952 | Birdshot choroidal lesions | 1 | TMEM98 CL E G H | 26022 | 35612 | | | | ORPHA | 1 | | 15 | 24529 | 615949 |
HP:0000610 | HP:0025568 | Abnormal morphology of the choroidal vasculature | 1 | TMEM98 CL E G H | 26022 | 35612 | | | | ORPHA | 1 | | 15 | 24529 | 615949 |
HP:0000610 | HP:0025148 | Dark choroid | 1 | TMEM98 CL E G H | 26022 | 35612 | | | | ORPHA | 1 | | 15 | 24529 | 615949 |
HP:0000610 | HP:0000532 | Abnormal chorioretinal morphology | 1 | TMEM98 CL E G H | 26022 | 35612 | | | | ORPHA | 1 | | 15 | 24529 | 615949 |
HP:0000610 | HP:0007858 | Chorioretinal lacunae | 2 | ABCA4 CL E G H | 24 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000610 | HP:0007872 | Choroidal hemangioma | 2 | ABCA4 CL E G H | 24 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000610 | HP:0030979 | Dilatation of large choroidal vessels | 2 | ABCA4 CL E G H | 24 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000610 | HP:0200065 | Chorioretinal degeneration | 2 | ABCA4 CL E G H | 24 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000610 | HP:0001135 | Chorioretinal dystrophy | 2 | ABCA4 CL E G H | 24 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000610 | HP:0011506 | Choroidal neovascularization | 2 | ABCA4 CL E G H | 24 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000610 | HP:0025570 | Choroidal vascular hyperpermeability | 2 | ABCA4 CL E G H | 24 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000610 | HP:0007731 | Chorioretinal dysplasia | 2 | ABCA4 CL E G H | 24 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000610 | HP:0007661 | Abnormality of chorioretinal pigmentation | 2 | ABCA4 CL E G H | 24 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000610 | HP:0000567 | Chorioretinal coloboma | 2 | ABCA4 CL E G H | 24 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000610 | HP:0012424 | Chorioretinitis | 2 | ABCA4 CL E G H | 24 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000610 | HP:0025567 | Central serous chorioretinopathy | 2 | ABCA4 CL E G H | 24 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000610 | HP:0025569 | Polypoidal choroidal vasculopathy | 2 | ABCA4 CL E G H | 24 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000610 | HP:0025570 | Choroidal vascular hyperpermeability | 2 | CLCNKB CL E G H | 1188 | 607364 | Bartter syndrome type 3 | 607364 | C1846343 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0000610 | HP:0001135 | Chorioretinal dystrophy | 2 | CLCNKB CL E G H | 1188 | 607364 | Bartter syndrome type 3 | 607364 | C1846343 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0000610 | HP:0011506 | Choroidal neovascularization | 2 | CLCNKB CL E G H | 1188 | 607364 | Bartter syndrome type 3 | 607364 | C1846343 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0000610 | HP:0000567 | Chorioretinal coloboma | 2 | CLCNKB CL E G H | 1188 | 607364 | Bartter syndrome type 3 | 607364 | C1846343 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0000610 | HP:0007731 | Chorioretinal dysplasia | 2 | CLCNKB CL E G H | 1188 | 607364 | Bartter syndrome type 3 | 607364 | C1846343 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0000610 | HP:0007661 | Abnormality of chorioretinal pigmentation | 2 | CLCNKB CL E G H | 1188 | 607364 | Bartter syndrome type 3 | 607364 | C1846343 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0000610 | HP:0025567 | Central serous chorioretinopathy | 2 | CLCNKB CL E G H | 1188 | 607364 | Bartter syndrome type 3 | 607364 | C1846343 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0000610 | HP:0025569 | Polypoidal choroidal vasculopathy | 2 | CLCNKB CL E G H | 1188 | 607364 | Bartter syndrome type 3 | 607364 | C1846343 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0000610 | HP:0012424 | Chorioretinitis | 2 | CLCNKB CL E G H | 1188 | 607364 | Bartter syndrome type 3 | 607364 | C1846343 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0000610 | HP:0030979 | Dilatation of large choroidal vessels | 2 | CLCNKB CL E G H | 1188 | 607364 | Bartter syndrome type 3 | 607364 | C1846343 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0000610 | HP:0200065 | Chorioretinal degeneration | 2 | CLCNKB CL E G H | 1188 | 607364 | Bartter syndrome type 3 | 607364 | C1846343 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0000610 | HP:0007858 | Chorioretinal lacunae | 2 | CLCNKB CL E G H | 1188 | 607364 | Bartter syndrome type 3 | 607364 | C1846343 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0000610 | HP:0007872 | Choroidal hemangioma | 2 | CLCNKB CL E G H | 1188 | 607364 | Bartter syndrome type 3 | 607364 | C1846343 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0000610 | HP:0012424 | Chorioretinitis | 2 | CNGB3 CL E G H | 54714 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 830 | 2153 | 605080 |
HP:0000610 | HP:0025567 | Central serous chorioretinopathy | 2 | CNGB3 CL E G H | 54714 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 830 | 2153 | 605080 |
HP:0000610 | HP:0025569 | Polypoidal choroidal vasculopathy | 2 | CNGB3 CL E G H | 54714 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 830 | 2153 | 605080 |
HP:0000610 | HP:0007858 | Chorioretinal lacunae | 2 | CNGB3 CL E G H | 54714 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 830 | 2153 | 605080 |
HP:0000610 | HP:0007872 | Choroidal hemangioma | 2 | CNGB3 CL E G H | 54714 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 830 | 2153 | 605080 |
HP:0000610 | HP:0030979 | Dilatation of large choroidal vessels | 2 | CNGB3 CL E G H | 54714 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 830 | 2153 | 605080 |
HP:0000610 | HP:0200065 | Chorioretinal degeneration | 2 | CNGB3 CL E G H | 54714 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 830 | 2153 | 605080 |
HP:0000610 | HP:0011506 | Choroidal neovascularization | 2 | CNGB3 CL E G H | 54714 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 830 | 2153 | 605080 |
HP:0000610 | HP:0025570 | Choroidal vascular hyperpermeability | 2 | CNGB3 CL E G H | 54714 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 830 | 2153 | 605080 |
HP:0000610 | HP:0001135 | Chorioretinal dystrophy | 2 | CNGB3 CL E G H | 54714 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 830 | 2153 | 605080 |
HP:0000610 | HP:0007661 | Abnormality of chorioretinal pigmentation | 2 | CNGB3 CL E G H | 54714 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 830 | 2153 | 605080 |
HP:0000610 | HP:0000567 | Chorioretinal coloboma | 2 | CNGB3 CL E G H | 54714 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 830 | 2153 | 605080 |
HP:0000610 | HP:0007731 | Chorioretinal dysplasia | 2 | CNGB3 CL E G H | 54714 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 830 | 2153 | 605080 |
HP:0000610 | HP:0000567 | Chorioretinal coloboma | 2 | ELOVL4 CL E G H | 6785 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0000610 | HP:0007731 | Chorioretinal dysplasia | 2 | ELOVL4 CL E G H | 6785 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0000610 | HP:0007661 | Abnormality of chorioretinal pigmentation | 2 | ELOVL4 CL E G H | 6785 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0000610 | HP:0025567 | Central serous chorioretinopathy | 2 | ELOVL4 CL E G H | 6785 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0000610 | HP:0025569 | Polypoidal choroidal vasculopathy | 2 | ELOVL4 CL E G H | 6785 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0000610 | HP:0012424 | Chorioretinitis | 2 | ELOVL4 CL E G H | 6785 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0000610 | HP:0030979 | Dilatation of large choroidal vessels | 2 | ELOVL4 CL E G H | 6785 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0000610 | HP:0200065 | Chorioretinal degeneration | 2 | ELOVL4 CL E G H | 6785 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0000610 | HP:0007858 | Chorioretinal lacunae | 2 | ELOVL4 CL E G H | 6785 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0000610 | HP:0007872 | Choroidal hemangioma | 2 | ELOVL4 CL E G H | 6785 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0000610 | HP:0025570 | Choroidal vascular hyperpermeability | 2 | ELOVL4 CL E G H | 6785 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0000610 | HP:0001135 | Chorioretinal dystrophy | 2 | ELOVL4 CL E G H | 6785 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0000610 | HP:0011506 | Choroidal neovascularization | 2 | ELOVL4 CL E G H | 6785 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0000610 | HP:0007731 | Chorioretinal dysplasia | 2 | MFRP CL E G H | 83552 | 35612 | | | | ORPHA | 1 | | 610 | 18121 | 606227 |
HP:0000610 | HP:0007661 | Abnormality of chorioretinal pigmentation | 2 | MFRP CL E G H | 83552 | 35612 | | | | ORPHA | 1 | | 610 | 18121 | 606227 |
HP:0000610 | HP:0000567 | Chorioretinal coloboma | 2 | MFRP CL E G H | 83552 | 35612 | | | | ORPHA | 1 | | 610 | 18121 | 606227 |
HP:0000610 | HP:0012424 | Chorioretinitis | 2 | MFRP CL E G H | 83552 | 35612 | | | | ORPHA | 1 | | 610 | 18121 | 606227 |
HP:0000610 | HP:0025567 | Central serous chorioretinopathy | 2 | MFRP CL E G H | 83552 | 35612 | | | | ORPHA | 1 | | 610 | 18121 | 606227 |
HP:0000610 | HP:0025569 | Polypoidal choroidal vasculopathy | 2 | MFRP CL E G H | 83552 | 35612 | | | | ORPHA | 1 | | 610 | 18121 | 606227 |
HP:0000610 | HP:0007858 | Chorioretinal lacunae | 2 | MFRP CL E G H | 83552 | 35612 | | | | ORPHA | 1 | | 610 | 18121 | 606227 |
HP:0000610 | HP:0007872 | Choroidal hemangioma | 2 | MFRP CL E G H | 83552 | 35612 | | | | ORPHA | 1 | | 610 | 18121 | 606227 |
HP:0000610 | HP:0030979 | Dilatation of large choroidal vessels | 2 | MFRP CL E G H | 83552 | 35612 | | | | ORPHA | 1 | | 610 | 18121 | 606227 |
HP:0000610 | HP:0200065 | Chorioretinal degeneration | 2 | MFRP CL E G H | 83552 | 35612 | | | | ORPHA | 1 | | 610 | 18121 | 606227 |
HP:0000610 | HP:0001135 | Chorioretinal dystrophy | 2 | MFRP CL E G H | 83552 | 35612 | | | | ORPHA | 1 | | 610 | 18121 | 606227 |
HP:0000610 | HP:0011506 | Choroidal neovascularization | 2 | MFRP CL E G H | 83552 | 35612 | | | | ORPHA | 1 | | 610 | 18121 | 606227 |
HP:0000610 | HP:0025570 | Choroidal vascular hyperpermeability | 2 | MFRP CL E G H | 83552 | 35612 | | | | ORPHA | 1 | | 610 | 18121 | 606227 |
HP:0000610 | HP:0001135 | Chorioretinal dystrophy | 2 | PROM1 CL E G H | 8842 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000610 | HP:0011506 | Choroidal neovascularization | 2 | PROM1 CL E G H | 8842 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000610 | HP:0025570 | Choroidal vascular hyperpermeability | 2 | PROM1 CL E G H | 8842 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000610 | HP:0007731 | Chorioretinal dysplasia | 2 | PROM1 CL E G H | 8842 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000610 | HP:0007661 | Abnormality of chorioretinal pigmentation | 2 | PROM1 CL E G H | 8842 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000610 | HP:0000567 | Chorioretinal coloboma | 2 | PROM1 CL E G H | 8842 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000610 | HP:0012424 | Chorioretinitis | 2 | PROM1 CL E G H | 8842 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000610 | HP:0025567 | Central serous chorioretinopathy | 2 | PROM1 CL E G H | 8842 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000610 | HP:0025569 | Polypoidal choroidal vasculopathy | 2 | PROM1 CL E G H | 8842 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000610 | HP:0007858 | Chorioretinal lacunae | 2 | PROM1 CL E G H | 8842 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000610 | HP:0007872 | Choroidal hemangioma | 2 | PROM1 CL E G H | 8842 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000610 | HP:0030979 | Dilatation of large choroidal vessels | 2 | PROM1 CL E G H | 8842 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000610 | HP:0200065 | Chorioretinal degeneration | 2 | PROM1 CL E G H | 8842 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000610 | HP:0007858 | Chorioretinal lacunae | 2 | PRPH2 CL E G H | 5961 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000610 | HP:0007872 | Choroidal hemangioma | 2 | PRPH2 CL E G H | 5961 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000610 | HP:0030979 | Dilatation of large choroidal vessels | 2 | PRPH2 CL E G H | 5961 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000610 | HP:0200065 | Chorioretinal degeneration | 2 | PRPH2 CL E G H | 5961 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000610 | HP:0011506 | Choroidal neovascularization | 2 | PRPH2 CL E G H | 5961 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000610 | HP:0025570 | Choroidal vascular hyperpermeability | 2 | PRPH2 CL E G H | 5961 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000610 | HP:0001135 | Chorioretinal dystrophy | 2 | PRPH2 CL E G H | 5961 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000610 | HP:0007661 | Abnormality of chorioretinal pigmentation | 2 | PRPH2 CL E G H | 5961 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000610 | HP:0000567 | Chorioretinal coloboma | 2 | PRPH2 CL E G H | 5961 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000610 | HP:0007731 | Chorioretinal dysplasia | 2 | PRPH2 CL E G H | 5961 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000610 | HP:0012424 | Chorioretinitis | 2 | PRPH2 CL E G H | 5961 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000610 | HP:0025567 | Central serous chorioretinopathy | 2 | PRPH2 CL E G H | 5961 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000610 | HP:0025569 | Polypoidal choroidal vasculopathy | 2 | PRPH2 CL E G H | 5961 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000610 | HP:0011506 | Choroidal neovascularization | 2 | PRSS56 CL E G H | 646960 | 35612 | | | | ORPHA | 1 | | 123 | 39433 | 613858 |
HP:0000610 | HP:0025570 | Choroidal vascular hyperpermeability | 2 | PRSS56 CL E G H | 646960 | 35612 | | | | ORPHA | 1 | | 123 | 39433 | 613858 |
HP:0000610 | HP:0001135 | Chorioretinal dystrophy | 2 | PRSS56 CL E G H | 646960 | 35612 | | | | ORPHA | 1 | | 123 | 39433 | 613858 |
HP:0000610 | HP:0007661 | Abnormality of chorioretinal pigmentation | 2 | PRSS56 CL E G H | 646960 | 35612 | | | | ORPHA | 1 | | 123 | 39433 | 613858 |
HP:0000610 | HP:0000567 | Chorioretinal coloboma | 2 | PRSS56 CL E G H | 646960 | 35612 | | | | ORPHA | 1 | | 123 | 39433 | 613858 |
HP:0000610 | HP:0007731 | Chorioretinal dysplasia | 2 | PRSS56 CL E G H | 646960 | 35612 | | | | ORPHA | 1 | | 123 | 39433 | 613858 |
HP:0000610 | HP:0012424 | Chorioretinitis | 2 | PRSS56 CL E G H | 646960 | 35612 | | | | ORPHA | 1 | | 123 | 39433 | 613858 |
HP:0000610 | HP:0025567 | Central serous chorioretinopathy | 2 | PRSS56 CL E G H | 646960 | 35612 | | | | ORPHA | 1 | | 123 | 39433 | 613858 |
HP:0000610 | HP:0025569 | Polypoidal choroidal vasculopathy | 2 | PRSS56 CL E G H | 646960 | 35612 | | | | ORPHA | 1 | | 123 | 39433 | 613858 |
HP:0000610 | HP:0007858 | Chorioretinal lacunae | 2 | PRSS56 CL E G H | 646960 | 35612 | | | | ORPHA | 1 | | 123 | 39433 | 613858 |
HP:0000610 | HP:0007872 | Choroidal hemangioma | 2 | PRSS56 CL E G H | 646960 | 35612 | | | | ORPHA | 1 | | 123 | 39433 | 613858 |
HP:0000610 | HP:0030979 | Dilatation of large choroidal vessels | 2 | PRSS56 CL E G H | 646960 | 35612 | | | | ORPHA | 1 | | 123 | 39433 | 613858 |
HP:0000610 | HP:0200065 | Chorioretinal degeneration | 2 | PRSS56 CL E G H | 646960 | 35612 | | | | ORPHA | 1 | | 123 | 39433 | 613858 |
HP:0000610 | HP:0030979 | Dilatation of large choroidal vessels | 2 | TMEM98 CL E G H | 26022 | 35612 | | | | ORPHA | 1 | | 15 | 24529 | 615949 |
HP:0000610 | HP:0200065 | Chorioretinal degeneration | 2 | TMEM98 CL E G H | 26022 | 35612 | | | | ORPHA | 1 | | 15 | 24529 | 615949 |
HP:0000610 | HP:0007858 | Chorioretinal lacunae | 2 | TMEM98 CL E G H | 26022 | 35612 | | | | ORPHA | 1 | | 15 | 24529 | 615949 |
HP:0000610 | HP:0007872 | Choroidal hemangioma | 2 | TMEM98 CL E G H | 26022 | 35612 | | | | ORPHA | 1 | | 15 | 24529 | 615949 |
HP:0000610 | HP:0025570 | Choroidal vascular hyperpermeability | 2 | TMEM98 CL E G H | 26022 | 35612 | | | | ORPHA | 1 | | 15 | 24529 | 615949 |
HP:0000610 | HP:0001135 | Chorioretinal dystrophy | 2 | TMEM98 CL E G H | 26022 | 35612 | | | | ORPHA | 1 | | 15 | 24529 | 615949 |
HP:0000610 | HP:0011506 | Choroidal neovascularization | 2 | TMEM98 CL E G H | 26022 | 35612 | | | | ORPHA | 1 | | 15 | 24529 | 615949 |
HP:0000610 | HP:0000567 | Chorioretinal coloboma | 2 | TMEM98 CL E G H | 26022 | 35612 | | | | ORPHA | 1 | | 15 | 24529 | 615949 |
HP:0000610 | HP:0007731 | Chorioretinal dysplasia | 2 | TMEM98 CL E G H | 26022 | 35612 | | | | ORPHA | 1 | | 15 | 24529 | 615949 |
HP:0000610 | HP:0007661 | Abnormality of chorioretinal pigmentation | 2 | TMEM98 CL E G H | 26022 | 35612 | | | | ORPHA | 1 | | 15 | 24529 | 615949 |
HP:0000610 | HP:0025567 | Central serous chorioretinopathy | 2 | TMEM98 CL E G H | 26022 | 35612 | | | | ORPHA | 1 | | 15 | 24529 | 615949 |
HP:0000610 | HP:0025569 | Polypoidal choroidal vasculopathy | 2 | TMEM98 CL E G H | 26022 | 35612 | | | | ORPHA | 1 | | 15 | 24529 | 615949 |
HP:0000610 | HP:0012424 | Chorioretinitis | 2 | TMEM98 CL E G H | 26022 | 35612 | | | | ORPHA | 1 | | 15 | 24529 | 615949 |
HP:0000610 | HP:0031239 | Extrafoveal choroidal neovascularization | 3 | ABCA4 CL E G H | 24 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000610 | HP:0040030 | Chorioretinal hypopigmentation | 3 | ABCA4 CL E G H | 24 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000610 | HP:0040031 | Chorioretinal hyperpigmentation | 3 | ABCA4 CL E G H | 24 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000610 | HP:0031613 | Inferior chorioretinal coloboma | 3 | ABCA4 CL E G H | 24 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000610 | HP:0031241 | Subfoveal choroidal neovascularization | 3 | ABCA4 CL E G H | 24 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000610 | HP:0007777 | Chorioretinal scar | 3 | ABCA4 CL E G H | 24 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000610 | HP:0031240 | Juxtafoveal choroidal neovascularization | 3 | ABCA4 CL E G H | 24 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000610 | HP:0000533 | Chorioretinal atrophy | 3 | ABCA4 CL E G H | 24 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000610 | HP:0031613 | Inferior chorioretinal coloboma | 3 | CLCNKB CL E G H | 1188 | 607364 | Bartter syndrome type 3 | 607364 | C1846343 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0000610 | HP:0040031 | Chorioretinal hyperpigmentation | 3 | CLCNKB CL E G H | 1188 | 607364 | Bartter syndrome type 3 | 607364 | C1846343 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0000610 | HP:0031241 | Subfoveal choroidal neovascularization | 3 | CLCNKB CL E G H | 1188 | 607364 | Bartter syndrome type 3 | 607364 | C1846343 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0000610 | HP:0000533 | Chorioretinal atrophy | 3 | CLCNKB CL E G H | 1188 | 607364 | Bartter syndrome type 3 | 607364 | C1846343 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0000610 | HP:0007777 | Chorioretinal scar | 3 | CLCNKB CL E G H | 1188 | 607364 | Bartter syndrome type 3 | 607364 | C1846343 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0000610 | HP:0031240 | Juxtafoveal choroidal neovascularization | 3 | CLCNKB CL E G H | 1188 | 607364 | Bartter syndrome type 3 | 607364 | C1846343 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0000610 | HP:0040030 | Chorioretinal hypopigmentation | 3 | CLCNKB CL E G H | 1188 | 607364 | Bartter syndrome type 3 | 607364 | C1846343 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0000610 | HP:0031239 | Extrafoveal choroidal neovascularization | 3 | CLCNKB CL E G H | 1188 | 607364 | Bartter syndrome type 3 | 607364 | C1846343 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0000610 | HP:0031240 | Juxtafoveal choroidal neovascularization | 3 | CNGB3 CL E G H | 54714 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 830 | 2153 | 605080 |
HP:0000610 | HP:0000533 | Chorioretinal atrophy | 3 | CNGB3 CL E G H | 54714 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 830 | 2153 | 605080 |
HP:0000610 | HP:0007777 | Chorioretinal scar | 3 | CNGB3 CL E G H | 54714 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 830 | 2153 | 605080 |
HP:0000610 | HP:0031239 | Extrafoveal choroidal neovascularization | 3 | CNGB3 CL E G H | 54714 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 830 | 2153 | 605080 |
HP:0000610 | HP:0040030 | Chorioretinal hypopigmentation | 3 | CNGB3 CL E G H | 54714 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 830 | 2153 | 605080 |
HP:0000610 | HP:0040031 | Chorioretinal hyperpigmentation | 3 | CNGB3 CL E G H | 54714 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 830 | 2153 | 605080 |
HP:0000610 | HP:0031613 | Inferior chorioretinal coloboma | 3 | CNGB3 CL E G H | 54714 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 830 | 2153 | 605080 |
HP:0000610 | HP:0031241 | Subfoveal choroidal neovascularization | 3 | CNGB3 CL E G H | 54714 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 830 | 2153 | 605080 |
HP:0000610 | HP:0031241 | Subfoveal choroidal neovascularization | 3 | ELOVL4 CL E G H | 6785 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0000610 | HP:0000533 | Chorioretinal atrophy | 3 | ELOVL4 CL E G H | 6785 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0000610 | HP:0007777 | Chorioretinal scar | 3 | ELOVL4 CL E G H | 6785 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0000610 | HP:0031240 | Juxtafoveal choroidal neovascularization | 3 | ELOVL4 CL E G H | 6785 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0000610 | HP:0040030 | Chorioretinal hypopigmentation | 3 | ELOVL4 CL E G H | 6785 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0000610 | HP:0031239 | Extrafoveal choroidal neovascularization | 3 | ELOVL4 CL E G H | 6785 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0000610 | HP:0031613 | Inferior chorioretinal coloboma | 3 | ELOVL4 CL E G H | 6785 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0000610 | HP:0040031 | Chorioretinal hyperpigmentation | 3 | ELOVL4 CL E G H | 6785 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0000610 | HP:0031241 | Subfoveal choroidal neovascularization | 3 | MFRP CL E G H | 83552 | 35612 | | | | ORPHA | 1 | | 610 | 18121 | 606227 |
HP:0000610 | HP:0007777 | Chorioretinal scar | 3 | MFRP CL E G H | 83552 | 35612 | | | | ORPHA | 1 | | 610 | 18121 | 606227 |
HP:0000610 | HP:0031240 | Juxtafoveal choroidal neovascularization | 3 | MFRP CL E G H | 83552 | 35612 | | | | ORPHA | 1 | | 610 | 18121 | 606227 |
HP:0000610 | HP:0000533 | Chorioretinal atrophy | 3 | MFRP CL E G H | 83552 | 35612 | | | | ORPHA | 1 | | 610 | 18121 | 606227 |
HP:0000610 | HP:0031239 | Extrafoveal choroidal neovascularization | 3 | MFRP CL E G H | 83552 | 35612 | | | | ORPHA | 1 | | 610 | 18121 | 606227 |
HP:0000610 | HP:0040030 | Chorioretinal hypopigmentation | 3 | MFRP CL E G H | 83552 | 35612 | | | | ORPHA | 1 | | 610 | 18121 | 606227 |
HP:0000610 | HP:0040031 | Chorioretinal hyperpigmentation | 3 | MFRP CL E G H | 83552 | 35612 | | | | ORPHA | 1 | | 610 | 18121 | 606227 |
HP:0000610 | HP:0031613 | Inferior chorioretinal coloboma | 3 | MFRP CL E G H | 83552 | 35612 | | | | ORPHA | 1 | | 610 | 18121 | 606227 |
HP:0000610 | HP:0040031 | Chorioretinal hyperpigmentation | 3 | PROM1 CL E G H | 8842 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000610 | HP:0031613 | Inferior chorioretinal coloboma | 3 | PROM1 CL E G H | 8842 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000610 | HP:0031241 | Subfoveal choroidal neovascularization | 3 | PROM1 CL E G H | 8842 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000610 | HP:0007777 | Chorioretinal scar | 3 | PROM1 CL E G H | 8842 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000610 | HP:0031240 | Juxtafoveal choroidal neovascularization | 3 | PROM1 CL E G H | 8842 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000610 | HP:0000533 | Chorioretinal atrophy | 3 | PROM1 CL E G H | 8842 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000610 | HP:0031239 | Extrafoveal choroidal neovascularization | 3 | PROM1 CL E G H | 8842 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000610 | HP:0040030 | Chorioretinal hypopigmentation | 3 | PROM1 CL E G H | 8842 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000610 | HP:0031239 | Extrafoveal choroidal neovascularization | 3 | PRPH2 CL E G H | 5961 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000610 | HP:0040030 | Chorioretinal hypopigmentation | 3 | PRPH2 CL E G H | 5961 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000610 | HP:0040031 | Chorioretinal hyperpigmentation | 3 | PRPH2 CL E G H | 5961 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000610 | HP:0031613 | Inferior chorioretinal coloboma | 3 | PRPH2 CL E G H | 5961 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000610 | HP:0031241 | Subfoveal choroidal neovascularization | 3 | PRPH2 CL E G H | 5961 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000610 | HP:0031240 | Juxtafoveal choroidal neovascularization | 3 | PRPH2 CL E G H | 5961 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000610 | HP:0000533 | Chorioretinal atrophy | 3 | PRPH2 CL E G H | 5961 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000610 | HP:0007777 | Chorioretinal scar | 3 | PRPH2 CL E G H | 5961 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000610 | HP:0040031 | Chorioretinal hyperpigmentation | 3 | PRSS56 CL E G H | 646960 | 35612 | | | | ORPHA | 1 | | 123 | 39433 | 613858 |
HP:0000610 | HP:0031613 | Inferior chorioretinal coloboma | 3 | PRSS56 CL E G H | 646960 | 35612 | | | | ORPHA | 1 | | 123 | 39433 | 613858 |
HP:0000610 | HP:0031241 | Subfoveal choroidal neovascularization | 3 | PRSS56 CL E G H | 646960 | 35612 | | | | ORPHA | 1 | | 123 | 39433 | 613858 |
HP:0000610 | HP:0031240 | Juxtafoveal choroidal neovascularization | 3 | PRSS56 CL E G H | 646960 | 35612 | | | | ORPHA | 1 | | 123 | 39433 | 613858 |
HP:0000610 | HP:0000533 | Chorioretinal atrophy | 3 | PRSS56 CL E G H | 646960 | 35612 | | | | ORPHA | 1 | | 123 | 39433 | 613858 |
HP:0000610 | HP:0007777 | Chorioretinal scar | 3 | PRSS56 CL E G H | 646960 | 35612 | | | | ORPHA | 1 | | 123 | 39433 | 613858 |
HP:0000610 | HP:0031239 | Extrafoveal choroidal neovascularization | 3 | PRSS56 CL E G H | 646960 | 35612 | | | | ORPHA | 1 | | 123 | 39433 | 613858 |
HP:0000610 | HP:0040030 | Chorioretinal hypopigmentation | 3 | PRSS56 CL E G H | 646960 | 35612 | | | | ORPHA | 1 | | 123 | 39433 | 613858 |
HP:0000610 | HP:0040030 | Chorioretinal hypopigmentation | 3 | TMEM98 CL E G H | 26022 | 35612 | | | | ORPHA | 1 | | 15 | 24529 | 615949 |
HP:0000610 | HP:0031239 | Extrafoveal choroidal neovascularization | 3 | TMEM98 CL E G H | 26022 | 35612 | | | | ORPHA | 1 | | 15 | 24529 | 615949 |
HP:0000610 | HP:0031613 | Inferior chorioretinal coloboma | 3 | TMEM98 CL E G H | 26022 | 35612 | | | | ORPHA | 1 | | 15 | 24529 | 615949 |
HP:0000610 | HP:0040031 | Chorioretinal hyperpigmentation | 3 | TMEM98 CL E G H | 26022 | 35612 | | | | ORPHA | 1 | | 15 | 24529 | 615949 |
HP:0000610 | HP:0031241 | Subfoveal choroidal neovascularization | 3 | TMEM98 CL E G H | 26022 | 35612 | | | | ORPHA | 1 | | 15 | 24529 | 615949 |
HP:0000610 | HP:0000533 | Chorioretinal atrophy | 3 | TMEM98 CL E G H | 26022 | 35612 | | | | ORPHA | 1 | | 15 | 24529 | 615949 |
HP:0000610 | HP:0007777 | Chorioretinal scar | 3 | TMEM98 CL E G H | 26022 | 35612 | | | | ORPHA | 1 | | 15 | 24529 | 615949 |
HP:0000610 | HP:0031240 | Juxtafoveal choroidal neovascularization | 3 | TMEM98 CL E G H | 26022 | 35612 | | | | ORPHA | 1 | | 15 | 24529 | 615949 |
HP:0000610 | HP:0007950 | Peripapillary chorioretinal atrophy | 4 | ABCA4 CL E G H | 24 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000610 | HP:0007903 | Paravenous chorioretinal atrophy | 4 | ABCA4 CL E G H | 24 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000610 | HP:0030491 | Choriocapillaris atrophy | 4 | ABCA4 CL E G H | 24 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 2760 | 34 | 601691 |
HP:0000610 | HP:0007903 | Paravenous chorioretinal atrophy | 4 | CLCNKB CL E G H | 1188 | 607364 | Bartter syndrome type 3 | 607364 | C1846343 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0000610 | HP:0030491 | Choriocapillaris atrophy | 4 | CLCNKB CL E G H | 1188 | 607364 | Bartter syndrome type 3 | 607364 | C1846343 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0000610 | HP:0007950 | Peripapillary chorioretinal atrophy | 4 | CLCNKB CL E G H | 1188 | 607364 | Bartter syndrome type 3 | 607364 | C1846343 | OMIM | 1 | | 369 | 2027 | 602023 |
HP:0000610 | HP:0007950 | Peripapillary chorioretinal atrophy | 4 | CNGB3 CL E G H | 54714 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 830 | 2153 | 605080 |
HP:0000610 | HP:0007903 | Paravenous chorioretinal atrophy | 4 | CNGB3 CL E G H | 54714 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 830 | 2153 | 605080 |
HP:0000610 | HP:0030491 | Choriocapillaris atrophy | 4 | CNGB3 CL E G H | 54714 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 830 | 2153 | 605080 |
HP:0000610 | HP:0030491 | Choriocapillaris atrophy | 4 | ELOVL4 CL E G H | 6785 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0000610 | HP:0007950 | Peripapillary chorioretinal atrophy | 4 | ELOVL4 CL E G H | 6785 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0000610 | HP:0007903 | Paravenous chorioretinal atrophy | 4 | ELOVL4 CL E G H | 6785 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 242 | 14415 | 605512 |
HP:0000610 | HP:0030491 | Choriocapillaris atrophy | 4 | MFRP CL E G H | 83552 | 35612 | | | | ORPHA | 1 | | 610 | 18121 | 606227 |
HP:0000610 | HP:0007950 | Peripapillary chorioretinal atrophy | 4 | MFRP CL E G H | 83552 | 35612 | | | | ORPHA | 1 | | 610 | 18121 | 606227 |
HP:0000610 | HP:0007903 | Paravenous chorioretinal atrophy | 4 | MFRP CL E G H | 83552 | 35612 | | | | ORPHA | 1 | | 610 | 18121 | 606227 |
HP:0000610 | HP:0007903 | Paravenous chorioretinal atrophy | 4 | PROM1 CL E G H | 8842 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000610 | HP:0030491 | Choriocapillaris atrophy | 4 | PROM1 CL E G H | 8842 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000610 | HP:0007950 | Peripapillary chorioretinal atrophy | 4 | PROM1 CL E G H | 8842 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 744 | 9454 | 604365 |
HP:0000610 | HP:0007950 | Peripapillary chorioretinal atrophy | 4 | PRPH2 CL E G H | 5961 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000610 | HP:0007903 | Paravenous chorioretinal atrophy | 4 | PRPH2 CL E G H | 5961 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000610 | HP:0030491 | Choriocapillaris atrophy | 4 | PRPH2 CL E G H | 5961 | 827 | Stargardt disease | | C0271093 | ORPHA | 1 | | 618 | 9942 | 179605 |
HP:0000610 | HP:0007903 | Paravenous chorioretinal atrophy | 4 | PRSS56 CL E G H | 646960 | 35612 | | | | ORPHA | 1 | | 123 | 39433 | 613858 |
HP:0000610 | HP:0030491 | Choriocapillaris atrophy | 4 | PRSS56 CL E G H | 646960 | 35612 | | | | ORPHA | 1 | | 123 | 39433 | 613858 |
HP:0000610 | HP:0007950 | Peripapillary chorioretinal atrophy | 4 | PRSS56 CL E G H | 646960 | 35612 | | | | ORPHA | 1 | | 123 | 39433 | 613858 |
HP:0000610 | HP:0007950 | Peripapillary chorioretinal atrophy | 4 | TMEM98 CL E G H | 26022 | 35612 | | | | ORPHA | 1 | | 15 | 24529 | 615949 |
HP:0000610 | HP:0007903 | Paravenous chorioretinal atrophy | 4 | TMEM98 CL E G H | 26022 | 35612 | | | | ORPHA | 1 | | 15 | 24529 | 615949 |
HP:0000610 | HP:0030491 | Choriocapillaris atrophy | 4 | TMEM98 CL E G H | 26022 | 35612 | | | | ORPHA | 1 | | 15 | 24529 | 615949 |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0000610 | HP:0000610 | Abnormal choroid morphology | 0 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000610 | HP:0000610 | Abnormal choroid morphology | 0 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 743 | 5331 | 605956 |
HP:0000610 | HP:0025148 | Dark choroid | 1 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000610 | HP:0000532 | Abnormal chorioretinal morphology | 1 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000610 | HP:0001139 | Choroideremia | 1 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000610 | HP:0025314 | Choroidal nevus | 1 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000610 | HP:0030952 | Birdshot choroidal lesions | 1 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000610 | HP:0025568 | Abnormal morphology of the choroidal vasculature | 1 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000610 | HP:0025148 | Dark choroid | 1 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 743 | 5331 | 605956 |
HP:0000610 | HP:0000532 | Abnormal chorioretinal morphology | 1 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 743 | 5331 | 605956 |
HP:0000610 | HP:0001139 | Choroideremia | 1 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 743 | 5331 | 605956 |
HP:0000610 | HP:0025314 | Choroidal nevus | 1 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 743 | 5331 | 605956 |
HP:0000610 | HP:0025568 | Abnormal morphology of the choroidal vasculature | 1 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 743 | 5331 | 605956 |
HP:0000610 | HP:0030952 | Birdshot choroidal lesions | 1 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 743 | 5331 | 605956 |
HP:0000610 | HP:0025567 | Central serous chorioretinopathy | 2 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000610 | HP:0025569 | Polypoidal choroidal vasculopathy | 2 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000610 | HP:0012424 | Chorioretinitis | 2 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000610 | HP:0030979 | Dilatation of large choroidal vessels | 2 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000610 | HP:0200065 | Chorioretinal degeneration | 2 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000610 | HP:0007858 | Chorioretinal lacunae | 2 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000610 | HP:0007872 | Choroidal hemangioma | 2 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000610 | HP:0025570 | Choroidal vascular hyperpermeability | 2 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000610 | HP:0001135 | Chorioretinal dystrophy | 2 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000610 | HP:0011506 | Choroidal neovascularization | 2 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000610 | HP:0000567 | Chorioretinal coloboma | 2 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000610 | HP:0007731 | Chorioretinal dysplasia | 2 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000610 | HP:0007661 | Abnormality of chorioretinal pigmentation | 2 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000610 | HP:0012424 | Chorioretinitis | 2 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 743 | 5331 | 605956 |
HP:0000610 | HP:0025567 | Central serous chorioretinopathy | 2 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 743 | 5331 | 605956 |
HP:0000610 | HP:0025569 | Polypoidal choroidal vasculopathy | 2 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 743 | 5331 | 605956 |
HP:0000610 | HP:0007858 | Chorioretinal lacunae | 2 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 743 | 5331 | 605956 |
HP:0000610 | HP:0007872 | Choroidal hemangioma | 2 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 743 | 5331 | 605956 |
HP:0000610 | HP:0030979 | Dilatation of large choroidal vessels | 2 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 743 | 5331 | 605956 |
HP:0000610 | HP:0200065 | Chorioretinal degeneration | 2 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 743 | 5331 | 605956 |
HP:0000610 | HP:0001135 | Chorioretinal dystrophy | 2 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 743 | 5331 | 605956 |
HP:0000610 | HP:0011506 | Choroidal neovascularization | 2 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 743 | 5331 | 605956 |
HP:0000610 | HP:0025570 | Choroidal vascular hyperpermeability | 2 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 743 | 5331 | 605956 |
HP:0000610 | HP:0007731 | Chorioretinal dysplasia | 2 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 743 | 5331 | 605956 |
HP:0000610 | HP:0007661 | Abnormality of chorioretinal pigmentation | 2 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 743 | 5331 | 605956 |
HP:0000610 | HP:0000567 | Chorioretinal coloboma | 2 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 743 | 5331 | 605956 |
HP:0000610 | HP:0000533 | Chorioretinal atrophy | 3 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000610 | HP:0007777 | Chorioretinal scar | 3 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000610 | HP:0031240 | Juxtafoveal choroidal neovascularization | 3 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000610 | HP:0040030 | Chorioretinal hypopigmentation | 3 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000610 | HP:0031239 | Extrafoveal choroidal neovascularization | 3 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000610 | HP:0031613 | Inferior chorioretinal coloboma | 3 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000610 | HP:0040031 | Chorioretinal hyperpigmentation | 3 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000610 | HP:0031241 | Subfoveal choroidal neovascularization | 3 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000610 | HP:0007777 | Chorioretinal scar | 3 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 743 | 5331 | 605956 |
HP:0000610 | HP:0031240 | Juxtafoveal choroidal neovascularization | 3 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 743 | 5331 | 605956 |
HP:0000610 | HP:0000533 | Chorioretinal atrophy | 3 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 743 | 5331 | 605956 |
HP:0000610 | HP:0031239 | Extrafoveal choroidal neovascularization | 3 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 743 | 5331 | 605956 |
HP:0000610 | HP:0040030 | Chorioretinal hypopigmentation | 3 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 743 | 5331 | 605956 |
HP:0000610 | HP:0040031 | Chorioretinal hyperpigmentation | 3 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 743 | 5331 | 605956 |
HP:0000610 | HP:0031613 | Inferior chorioretinal coloboma | 3 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 743 | 5331 | 605956 |
HP:0000610 | HP:0031241 | Subfoveal choroidal neovascularization | 3 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 743 | 5331 | 605956 |
HP:0000610 | HP:0007950 | Peripapillary chorioretinal atrophy | 4 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000610 | HP:0007903 | Paravenous chorioretinal atrophy | 4 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000610 | HP:0030491 | Choriocapillaris atrophy | 4 | GNAQ CL E G H | 2776 | 3205 | LBWD syndrome | | | ORPHA | 0 | | 84 | 4390 | 600998 |
HP:0000610 | HP:0007950 | Peripapillary chorioretinal atrophy | 4 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 743 | 5331 | 605956 |
HP:0000610 | HP:0007903 | Paravenous chorioretinal atrophy | 4 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 743 | 5331 | 605956 |
HP:0000610 | HP:0030491 | Choriocapillaris atrophy | 4 | NOD2 CL E G H | 64127 | 90340 | | | | ORPHA | 0 | | 743 | 5331 | 605956 |