Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | DiseaseId | DiseaseName | DiseaseMIM | ConceptID | Source | Typical association | HGMD variants | ClinVar variants | HGNC ID | GeneMIM |
---|
HPO disease - gene - phenotype typical associations: |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | CAPN5 CL E G H | 726 | 193235 | Vitreoretinopathy, neovascular inflammatory | 193235 | C0242852 | OMIM | 1 | | 326 | 1482 | 602537 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | CAPN5 CL E G H | 726 | 193235 | Vitreoretinopathy, neovascular inflammatory | 193235 | C0242852 | OMIM | 1 | | 237 | 1482 | 602537 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL11A1 CL E G H | 1301 | 560 | | | | ORPHA | 1 | | 1339 | 2186 | 120280 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL11A1 CL E G H | 1301 | 250984 | | | | ORPHA | 1 | | 1339 | 2186 | 120280 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL11A1 CL E G H | 1301 | 560 | | | | ORPHA | 1 | | 1028 | 2186 | 120280 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL11A1 CL E G H | 1301 | 250984 | | | | ORPHA | 1 | | 1028 | 2186 | 120280 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL11A1 CL E G H | 1301 | 154780 | Marshall syndrome | 154780 | C0265235 | OMIM | 1 | | 1339 | 2186 | 120280 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL11A1 CL E G H | 1301 | 154780 | Marshall syndrome | 154780 | C0265235 | OMIM | 1 | | 1028 | 2186 | 120280 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL18A1 CL E G H | 80781 | 1571 | | | | ORPHA | 1 | | 1497 | 2195 | 120328 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL18A1 CL E G H | 80781 | 1571 | | | | ORPHA | 1 | | 761 | 2195 | 120328 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 1 | | 1497 | 2195 | 120328 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 1 | | 761 | 2195 | 120328 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL2A1 CL E G H | 1280 | 485 | | | | ORPHA | 1 | | 1540 | 2200 | 120140 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL2A1 CL E G H | 1280 | 485 | | | | ORPHA | 1 | | 1213 | 2200 | 120140 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL2A1 CL E G H | 1280 | 183900 | Spondyloepiphyseal dysplasia | 183900 | C0038015 | OMIM | 1 | | 1540 | 2200 | 120140 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL2A1 CL E G H | 1280 | 183900 | Spondyloepiphyseal dysplasia | 183900 | C0038015 | OMIM | 1 | | 1213 | 2200 | 120140 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL9A1 CL E G H | 1297 | 250984 | | | | ORPHA | 1 | | 744 | 2217 | 120210 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL9A1 CL E G H | 1297 | 250984 | | | | ORPHA | 1 | | 594 | 2217 | 120210 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL9A2 CL E G H | 1298 | 250984 | | | | ORPHA | 1 | | 479 | 2218 | 120260 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL9A2 CL E G H | 1298 | 250984 | | | | ORPHA | 1 | | 336 | 2218 | 120260 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL9A2 CL E G H | 1298 | 614284 | Stickler syndrome, type 5 | 614284 | C3280342 | OMIM | 1 | | 479 | 2218 | 120260 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL9A2 CL E G H | 1298 | 614284 | Stickler syndrome, type 5 | 614284 | C3280342 | OMIM | 1 | | 336 | 2218 | 120260 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL9A3 CL E G H | 1299 | 250984 | | | | ORPHA | 1 | | 703 | 2219 | 120270 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL9A3 CL E G H | 1299 | 250984 | | | | ORPHA | 1 | | 464 | 2219 | 120270 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | CRB1 CL E G H | 23418 | 172870 | Pigmented paravenous chorioretinal atrophy | 172870 | C1868310 | OMIM | 1 | | 1085 | 2343 | 604210 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | CRB1 CL E G H | 23418 | 172870 | Pigmented paravenous chorioretinal atrophy | 172870 | C1868310 | OMIM | 1 | | 894 | 2343 | 604210 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | CTNNB1 CL E G H | 1499 | 617572 | EXUDATIVE VITREORETINOPATHY 7 | 617572 | C4539767 | OMIM | 1 | | 364 | 2514 | 116806 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | CTNNB1 CL E G H | 1499 | 617572 | EXUDATIVE VITREORETINOPATHY 7 | 617572 | C4539767 | OMIM | 1 | | 269 | 2514 | 116806 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | KCNJ13 CL E G H | 3769 | 193230 | Snowflake vitreoretinal degeneration | 193230 | C1860405 | OMIM | 1 | | 174 | 6259 | 603208 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | KCNJ13 CL E G H | 3769 | 193230 | Snowflake vitreoretinal degeneration | 193230 | C1860405 | OMIM | 1 | | 146 | 6259 | 603208 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | LRP5 CL E G H | 4041 | 259770 | Osteoporosis with pseudoglioma | 259770 | C0432252 | OMIM | 1 | | 1127 | 6697 | 603506 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | LRP5 CL E G H | 4041 | 259770 | Osteoporosis with pseudoglioma | 259770 | C0432252 | OMIM | 1 | | 861 | 6697 | 603506 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | NR2E3 CL E G H | 10002 | 268100 | Enhanced s-cone syndrome | 268100 | C1849394 | OMIM | 1 | | 422 | 7974 | 604485 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | NR2E3 CL E G H | 10002 | 268100 | Enhanced s-cone syndrome | 268100 | C1849394 | OMIM | 1 | | 363 | 7974 | 604485 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | VCAN CL E G H | 1462 | 143200 | Wagner syndrome | 143200 | C0339540 | OMIM | 1 | | 1111 | 2464 | 118661 |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | VCAN CL E G H | 1462 | 143200 | Wagner syndrome | 143200 | C0339540 | OMIM | 1 | | 783 | 2464 | 118661 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | CAPN5 CL E G H | 726 | 193235 | Vitreoretinopathy, neovascular inflammatory | 193235 | C0242852 | OMIM | 1 | | 237 | 1482 | 602537 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | CAPN5 CL E G H | 726 | 193235 | Vitreoretinopathy, neovascular inflammatory | 193235 | C0242852 | OMIM | 1 | | 237 | 1482 | 602537 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | CAPN5 CL E G H | 726 | 193235 | Vitreoretinopathy, neovascular inflammatory | 193235 | C0242852 | OMIM | 1 | | 237 | 1482 | 602537 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | CAPN5 CL E G H | 726 | 193235 | Vitreoretinopathy, neovascular inflammatory | 193235 | C0242852 | OMIM | 1 | | 326 | 1482 | 602537 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | CAPN5 CL E G H | 726 | 193235 | Vitreoretinopathy, neovascular inflammatory | 193235 | C0242852 | OMIM | 1 | | 326 | 1482 | 602537 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | CAPN5 CL E G H | 726 | 193235 | Vitreoretinopathy, neovascular inflammatory | 193235 | C0242852 | OMIM | 1 | | 237 | 1482 | 602537 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | CAPN5 CL E G H | 726 | 193235 | Vitreoretinopathy, neovascular inflammatory | 193235 | C0242852 | OMIM | 1 | | 237 | 1482 | 602537 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | CAPN5 CL E G H | 726 | 193235 | Vitreoretinopathy, neovascular inflammatory | 193235 | C0242852 | OMIM | 1 | | 326 | 1482 | 602537 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | CAPN5 CL E G H | 726 | 193235 | Vitreoretinopathy, neovascular inflammatory | 193235 | C0242852 | OMIM | 1 | | 326 | 1482 | 602537 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | CAPN5 CL E G H | 726 | 193235 | Vitreoretinopathy, neovascular inflammatory | 193235 | C0242852 | OMIM | 1 | | 326 | 1482 | 602537 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | COL11A1 CL E G H | 1301 | 560 | | | | ORPHA | 1 | | 1028 | 2186 | 120280 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | COL11A1 CL E G H | 1301 | 250984 | | | | ORPHA | 1 | | 1028 | 2186 | 120280 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | COL11A1 CL E G H | 1301 | 250984 | | | | ORPHA | 1 | | 1028 | 2186 | 120280 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | COL11A1 CL E G H | 1301 | 560 | | | | ORPHA | 1 | | 1028 | 2186 | 120280 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | COL11A1 CL E G H | 1301 | 560 | | | | ORPHA | 1 | | 1028 | 2186 | 120280 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | COL11A1 CL E G H | 1301 | 250984 | | | | ORPHA | 1 | | 1028 | 2186 | 120280 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | COL11A1 CL E G H | 1301 | 560 | | | | ORPHA | 1 | | 1339 | 2186 | 120280 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | COL11A1 CL E G H | 1301 | 250984 | | | | ORPHA | 1 | | 1339 | 2186 | 120280 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | COL11A1 CL E G H | 1301 | 250984 | | | | ORPHA | 1 | | 1339 | 2186 | 120280 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | COL11A1 CL E G H | 1301 | 560 | | | | ORPHA | 1 | | 1339 | 2186 | 120280 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | COL11A1 CL E G H | 1301 | 560 | | | | ORPHA | 1 | | 1028 | 2186 | 120280 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | COL11A1 CL E G H | 1301 | 250984 | | | | ORPHA | 1 | | 1028 | 2186 | 120280 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | COL11A1 CL E G H | 1301 | 250984 | | | | ORPHA | 1 | | 1028 | 2186 | 120280 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | COL11A1 CL E G H | 1301 | 560 | | | | ORPHA | 1 | | 1028 | 2186 | 120280 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | COL11A1 CL E G H | 1301 | 250984 | | | | ORPHA | 1 | | 1339 | 2186 | 120280 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | COL11A1 CL E G H | 1301 | 560 | | | | ORPHA | 1 | | 1339 | 2186 | 120280 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | COL11A1 CL E G H | 1301 | 250984 | | | | ORPHA | 1 | | 1339 | 2186 | 120280 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | COL11A1 CL E G H | 1301 | 250984 | | | | ORPHA | 1 | | 1339 | 2186 | 120280 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | COL11A1 CL E G H | 1301 | 560 | | | | ORPHA | 1 | | 1339 | 2186 | 120280 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | COL11A1 CL E G H | 1301 | 560 | | | | ORPHA | 1 | | 1339 | 2186 | 120280 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | COL11A1 CL E G H | 1301 | 154780 | Marshall syndrome | 154780 | C0265235 | OMIM | 1 | | 1028 | 2186 | 120280 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | COL11A1 CL E G H | 1301 | 154780 | Marshall syndrome | 154780 | C0265235 | OMIM | 1 | | 1028 | 2186 | 120280 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | COL11A1 CL E G H | 1301 | 154780 | Marshall syndrome | 154780 | C0265235 | OMIM | 1 | | 1028 | 2186 | 120280 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | COL11A1 CL E G H | 1301 | 154780 | Marshall syndrome | 154780 | C0265235 | OMIM | 1 | | 1339 | 2186 | 120280 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | COL11A1 CL E G H | 1301 | 154780 | Marshall syndrome | 154780 | C0265235 | OMIM | 1 | | 1339 | 2186 | 120280 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | COL11A1 CL E G H | 1301 | 154780 | Marshall syndrome | 154780 | C0265235 | OMIM | 1 | | 1028 | 2186 | 120280 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | COL11A1 CL E G H | 1301 | 154780 | Marshall syndrome | 154780 | C0265235 | OMIM | 1 | | 1028 | 2186 | 120280 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | COL11A1 CL E G H | 1301 | 154780 | Marshall syndrome | 154780 | C0265235 | OMIM | 1 | | 1339 | 2186 | 120280 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | COL11A1 CL E G H | 1301 | 154780 | Marshall syndrome | 154780 | C0265235 | OMIM | 1 | | 1339 | 2186 | 120280 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | COL11A1 CL E G H | 1301 | 154780 | Marshall syndrome | 154780 | C0265235 | OMIM | 1 | | 1339 | 2186 | 120280 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | COL18A1 CL E G H | 80781 | 1571 | | | | ORPHA | 1 | | 761 | 2195 | 120328 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | COL18A1 CL E G H | 80781 | 1571 | | | | ORPHA | 1 | | 761 | 2195 | 120328 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | COL18A1 CL E G H | 80781 | 1571 | | | | ORPHA | 1 | | 761 | 2195 | 120328 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | COL18A1 CL E G H | 80781 | 1571 | | | | ORPHA | 1 | | 1497 | 2195 | 120328 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | COL18A1 CL E G H | 80781 | 1571 | | | | ORPHA | 1 | | 1497 | 2195 | 120328 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | COL18A1 CL E G H | 80781 | 1571 | | | | ORPHA | 1 | | 761 | 2195 | 120328 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | COL18A1 CL E G H | 80781 | 1571 | | | | ORPHA | 1 | | 761 | 2195 | 120328 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | COL18A1 CL E G H | 80781 | 1571 | | | | ORPHA | 1 | | 1497 | 2195 | 120328 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | COL18A1 CL E G H | 80781 | 1571 | | | | ORPHA | 1 | | 1497 | 2195 | 120328 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | COL18A1 CL E G H | 80781 | 1571 | | | | ORPHA | 1 | | 1497 | 2195 | 120328 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 1 | | 761 | 2195 | 120328 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 1 | | 761 | 2195 | 120328 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 1 | | 761 | 2195 | 120328 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 1 | | 1497 | 2195 | 120328 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 1 | | 1497 | 2195 | 120328 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 1 | | 761 | 2195 | 120328 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 1 | | 761 | 2195 | 120328 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 1 | | 1497 | 2195 | 120328 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 1 | | 1497 | 2195 | 120328 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | COL18A1 CL E G H | 80781 | 267750 | Knobloch syndrome 1 | 267750 | C1849409 | OMIM | 1 | | 1497 | 2195 | 120328 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | COL2A1 CL E G H | 1280 | 485 | | | | ORPHA | 1 | | 1213 | 2200 | 120140 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | COL2A1 CL E G H | 1280 | 485 | | | | ORPHA | 1 | | 1213 | 2200 | 120140 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | COL2A1 CL E G H | 1280 | 485 | | | | ORPHA | 1 | | 1213 | 2200 | 120140 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | COL2A1 CL E G H | 1280 | 485 | | | | ORPHA | 1 | | 1540 | 2200 | 120140 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | COL2A1 CL E G H | 1280 | 485 | | | | ORPHA | 1 | | 1540 | 2200 | 120140 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | COL2A1 CL E G H | 1280 | 485 | | | | ORPHA | 1 | | 1213 | 2200 | 120140 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | COL2A1 CL E G H | 1280 | 485 | | | | ORPHA | 1 | | 1213 | 2200 | 120140 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | COL2A1 CL E G H | 1280 | 485 | | | | ORPHA | 1 | | 1540 | 2200 | 120140 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | COL2A1 CL E G H | 1280 | 485 | | | | ORPHA | 1 | | 1540 | 2200 | 120140 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | COL2A1 CL E G H | 1280 | 485 | | | | ORPHA | 1 | | 1540 | 2200 | 120140 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | COL2A1 CL E G H | 1280 | 183900 | Spondyloepiphyseal dysplasia | 183900 | C0038015 | OMIM | 1 | | 1213 | 2200 | 120140 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | COL2A1 CL E G H | 1280 | 183900 | Spondyloepiphyseal dysplasia | 183900 | C0038015 | OMIM | 1 | | 1213 | 2200 | 120140 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | COL2A1 CL E G H | 1280 | 183900 | Spondyloepiphyseal dysplasia | 183900 | C0038015 | OMIM | 1 | | 1213 | 2200 | 120140 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | COL2A1 CL E G H | 1280 | 183900 | Spondyloepiphyseal dysplasia | 183900 | C0038015 | OMIM | 1 | | 1540 | 2200 | 120140 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | COL2A1 CL E G H | 1280 | 183900 | Spondyloepiphyseal dysplasia | 183900 | C0038015 | OMIM | 1 | | 1540 | 2200 | 120140 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | COL2A1 CL E G H | 1280 | 183900 | Spondyloepiphyseal dysplasia | 183900 | C0038015 | OMIM | 1 | | 1213 | 2200 | 120140 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | COL2A1 CL E G H | 1280 | 183900 | Spondyloepiphyseal dysplasia | 183900 | C0038015 | OMIM | 1 | | 1213 | 2200 | 120140 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | COL2A1 CL E G H | 1280 | 183900 | Spondyloepiphyseal dysplasia | 183900 | C0038015 | OMIM | 1 | | 1540 | 2200 | 120140 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | COL2A1 CL E G H | 1280 | 183900 | Spondyloepiphyseal dysplasia | 183900 | C0038015 | OMIM | 1 | | 1540 | 2200 | 120140 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | COL2A1 CL E G H | 1280 | 183900 | Spondyloepiphyseal dysplasia | 183900 | C0038015 | OMIM | 1 | | 1540 | 2200 | 120140 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | COL9A1 CL E G H | 1297 | 250984 | | | | ORPHA | 1 | | 594 | 2217 | 120210 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | COL9A1 CL E G H | 1297 | 250984 | | | | ORPHA | 1 | | 594 | 2217 | 120210 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | COL9A1 CL E G H | 1297 | 250984 | | | | ORPHA | 1 | | 594 | 2217 | 120210 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | COL9A1 CL E G H | 1297 | 250984 | | | | ORPHA | 1 | | 744 | 2217 | 120210 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | COL9A1 CL E G H | 1297 | 250984 | | | | ORPHA | 1 | | 744 | 2217 | 120210 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | COL9A1 CL E G H | 1297 | 250984 | | | | ORPHA | 1 | | 594 | 2217 | 120210 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | COL9A1 CL E G H | 1297 | 250984 | | | | ORPHA | 1 | | 594 | 2217 | 120210 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | COL9A1 CL E G H | 1297 | 250984 | | | | ORPHA | 1 | | 744 | 2217 | 120210 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | COL9A1 CL E G H | 1297 | 250984 | | | | ORPHA | 1 | | 744 | 2217 | 120210 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | COL9A1 CL E G H | 1297 | 250984 | | | | ORPHA | 1 | | 744 | 2217 | 120210 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | COL9A2 CL E G H | 1298 | 250984 | | | | ORPHA | 1 | | 336 | 2218 | 120260 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | COL9A2 CL E G H | 1298 | 250984 | | | | ORPHA | 1 | | 336 | 2218 | 120260 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | COL9A2 CL E G H | 1298 | 250984 | | | | ORPHA | 1 | | 336 | 2218 | 120260 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | COL9A2 CL E G H | 1298 | 250984 | | | | ORPHA | 1 | | 479 | 2218 | 120260 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | COL9A2 CL E G H | 1298 | 250984 | | | | ORPHA | 1 | | 479 | 2218 | 120260 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | COL9A2 CL E G H | 1298 | 250984 | | | | ORPHA | 1 | | 336 | 2218 | 120260 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | COL9A2 CL E G H | 1298 | 250984 | | | | ORPHA | 1 | | 336 | 2218 | 120260 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | COL9A2 CL E G H | 1298 | 250984 | | | | ORPHA | 1 | | 479 | 2218 | 120260 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | COL9A2 CL E G H | 1298 | 250984 | | | | ORPHA | 1 | | 479 | 2218 | 120260 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | COL9A2 CL E G H | 1298 | 250984 | | | | ORPHA | 1 | | 479 | 2218 | 120260 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | COL9A2 CL E G H | 1298 | 614284 | Stickler syndrome, type 5 | 614284 | C3280342 | OMIM | 1 | | 336 | 2218 | 120260 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | COL9A2 CL E G H | 1298 | 614284 | Stickler syndrome, type 5 | 614284 | C3280342 | OMIM | 1 | | 336 | 2218 | 120260 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | COL9A2 CL E G H | 1298 | 614284 | Stickler syndrome, type 5 | 614284 | C3280342 | OMIM | 1 | | 336 | 2218 | 120260 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | COL9A2 CL E G H | 1298 | 614284 | Stickler syndrome, type 5 | 614284 | C3280342 | OMIM | 1 | | 479 | 2218 | 120260 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | COL9A2 CL E G H | 1298 | 614284 | Stickler syndrome, type 5 | 614284 | C3280342 | OMIM | 1 | | 479 | 2218 | 120260 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | COL9A2 CL E G H | 1298 | 614284 | Stickler syndrome, type 5 | 614284 | C3280342 | OMIM | 1 | | 336 | 2218 | 120260 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | COL9A2 CL E G H | 1298 | 614284 | Stickler syndrome, type 5 | 614284 | C3280342 | OMIM | 1 | | 336 | 2218 | 120260 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | COL9A2 CL E G H | 1298 | 614284 | Stickler syndrome, type 5 | 614284 | C3280342 | OMIM | 1 | | 479 | 2218 | 120260 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | COL9A2 CL E G H | 1298 | 614284 | Stickler syndrome, type 5 | 614284 | C3280342 | OMIM | 1 | | 479 | 2218 | 120260 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | COL9A2 CL E G H | 1298 | 614284 | Stickler syndrome, type 5 | 614284 | C3280342 | OMIM | 1 | | 479 | 2218 | 120260 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | COL9A3 CL E G H | 1299 | 250984 | | | | ORPHA | 1 | | 464 | 2219 | 120270 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | COL9A3 CL E G H | 1299 | 250984 | | | | ORPHA | 1 | | 464 | 2219 | 120270 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | COL9A3 CL E G H | 1299 | 250984 | | | | ORPHA | 1 | | 464 | 2219 | 120270 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | COL9A3 CL E G H | 1299 | 250984 | | | | ORPHA | 1 | | 703 | 2219 | 120270 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | COL9A3 CL E G H | 1299 | 250984 | | | | ORPHA | 1 | | 703 | 2219 | 120270 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | COL9A3 CL E G H | 1299 | 250984 | | | | ORPHA | 1 | | 464 | 2219 | 120270 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | COL9A3 CL E G H | 1299 | 250984 | | | | ORPHA | 1 | | 464 | 2219 | 120270 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | COL9A3 CL E G H | 1299 | 250984 | | | | ORPHA | 1 | | 703 | 2219 | 120270 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | COL9A3 CL E G H | 1299 | 250984 | | | | ORPHA | 1 | | 703 | 2219 | 120270 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | COL9A3 CL E G H | 1299 | 250984 | | | | ORPHA | 1 | | 703 | 2219 | 120270 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | CRB1 CL E G H | 23418 | 172870 | Pigmented paravenous chorioretinal atrophy | 172870 | C1868310 | OMIM | 1 | | 894 | 2343 | 604210 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | CRB1 CL E G H | 23418 | 172870 | Pigmented paravenous chorioretinal atrophy | 172870 | C1868310 | OMIM | 1 | | 894 | 2343 | 604210 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | CRB1 CL E G H | 23418 | 172870 | Pigmented paravenous chorioretinal atrophy | 172870 | C1868310 | OMIM | 1 | | 894 | 2343 | 604210 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | CRB1 CL E G H | 23418 | 172870 | Pigmented paravenous chorioretinal atrophy | 172870 | C1868310 | OMIM | 1 | | 1085 | 2343 | 604210 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | CRB1 CL E G H | 23418 | 172870 | Pigmented paravenous chorioretinal atrophy | 172870 | C1868310 | OMIM | 1 | | 1085 | 2343 | 604210 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | CRB1 CL E G H | 23418 | 172870 | Pigmented paravenous chorioretinal atrophy | 172870 | C1868310 | OMIM | 1 | | 894 | 2343 | 604210 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | CRB1 CL E G H | 23418 | 172870 | Pigmented paravenous chorioretinal atrophy | 172870 | C1868310 | OMIM | 1 | | 894 | 2343 | 604210 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | CRB1 CL E G H | 23418 | 172870 | Pigmented paravenous chorioretinal atrophy | 172870 | C1868310 | OMIM | 1 | | 1085 | 2343 | 604210 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | CRB1 CL E G H | 23418 | 172870 | Pigmented paravenous chorioretinal atrophy | 172870 | C1868310 | OMIM | 1 | | 1085 | 2343 | 604210 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | CRB1 CL E G H | 23418 | 172870 | Pigmented paravenous chorioretinal atrophy | 172870 | C1868310 | OMIM | 1 | | 1085 | 2343 | 604210 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | CTNNB1 CL E G H | 1499 | 617572 | EXUDATIVE VITREORETINOPATHY 7 | 617572 | C4539767 | OMIM | 1 | | 269 | 2514 | 116806 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | CTNNB1 CL E G H | 1499 | 617572 | EXUDATIVE VITREORETINOPATHY 7 | 617572 | C4539767 | OMIM | 1 | | 269 | 2514 | 116806 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | CTNNB1 CL E G H | 1499 | 617572 | EXUDATIVE VITREORETINOPATHY 7 | 617572 | C4539767 | OMIM | 1 | | 269 | 2514 | 116806 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | CTNNB1 CL E G H | 1499 | 617572 | EXUDATIVE VITREORETINOPATHY 7 | 617572 | C4539767 | OMIM | 1 | | 364 | 2514 | 116806 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | CTNNB1 CL E G H | 1499 | 617572 | EXUDATIVE VITREORETINOPATHY 7 | 617572 | C4539767 | OMIM | 1 | | 364 | 2514 | 116806 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | CTNNB1 CL E G H | 1499 | 617572 | EXUDATIVE VITREORETINOPATHY 7 | 617572 | C4539767 | OMIM | 1 | | 269 | 2514 | 116806 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | CTNNB1 CL E G H | 1499 | 617572 | EXUDATIVE VITREORETINOPATHY 7 | 617572 | C4539767 | OMIM | 1 | | 269 | 2514 | 116806 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | CTNNB1 CL E G H | 1499 | 617572 | EXUDATIVE VITREORETINOPATHY 7 | 617572 | C4539767 | OMIM | 1 | | 364 | 2514 | 116806 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | CTNNB1 CL E G H | 1499 | 617572 | EXUDATIVE VITREORETINOPATHY 7 | 617572 | C4539767 | OMIM | 1 | | 364 | 2514 | 116806 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | CTNNB1 CL E G H | 1499 | 617572 | EXUDATIVE VITREORETINOPATHY 7 | 617572 | C4539767 | OMIM | 1 | | 364 | 2514 | 116806 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | KCNJ13 CL E G H | 3769 | 193230 | Snowflake vitreoretinal degeneration | 193230 | C1860405 | OMIM | 1 | | 146 | 6259 | 603208 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | KCNJ13 CL E G H | 3769 | 193230 | Snowflake vitreoretinal degeneration | 193230 | C1860405 | OMIM | 1 | | 146 | 6259 | 603208 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | KCNJ13 CL E G H | 3769 | 193230 | Snowflake vitreoretinal degeneration | 193230 | C1860405 | OMIM | 1 | | 146 | 6259 | 603208 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | KCNJ13 CL E G H | 3769 | 193230 | Snowflake vitreoretinal degeneration | 193230 | C1860405 | OMIM | 1 | | 174 | 6259 | 603208 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | KCNJ13 CL E G H | 3769 | 193230 | Snowflake vitreoretinal degeneration | 193230 | C1860405 | OMIM | 1 | | 174 | 6259 | 603208 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | KCNJ13 CL E G H | 3769 | 193230 | Snowflake vitreoretinal degeneration | 193230 | C1860405 | OMIM | 1 | | 146 | 6259 | 603208 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | KCNJ13 CL E G H | 3769 | 193230 | Snowflake vitreoretinal degeneration | 193230 | C1860405 | OMIM | 1 | | 146 | 6259 | 603208 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | KCNJ13 CL E G H | 3769 | 193230 | Snowflake vitreoretinal degeneration | 193230 | C1860405 | OMIM | 1 | | 174 | 6259 | 603208 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | KCNJ13 CL E G H | 3769 | 193230 | Snowflake vitreoretinal degeneration | 193230 | C1860405 | OMIM | 1 | | 174 | 6259 | 603208 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | KCNJ13 CL E G H | 3769 | 193230 | Snowflake vitreoretinal degeneration | 193230 | C1860405 | OMIM | 1 | | 174 | 6259 | 603208 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | LRP5 CL E G H | 4041 | 259770 | Osteoporosis with pseudoglioma | 259770 | C0432252 | OMIM | 1 | | 861 | 6697 | 603506 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | LRP5 CL E G H | 4041 | 259770 | Osteoporosis with pseudoglioma | 259770 | C0432252 | OMIM | 1 | | 861 | 6697 | 603506 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | LRP5 CL E G H | 4041 | 259770 | Osteoporosis with pseudoglioma | 259770 | C0432252 | OMIM | 1 | | 861 | 6697 | 603506 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | LRP5 CL E G H | 4041 | 259770 | Osteoporosis with pseudoglioma | 259770 | C0432252 | OMIM | 1 | | 1127 | 6697 | 603506 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | LRP5 CL E G H | 4041 | 259770 | Osteoporosis with pseudoglioma | 259770 | C0432252 | OMIM | 1 | | 1127 | 6697 | 603506 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | LRP5 CL E G H | 4041 | 259770 | Osteoporosis with pseudoglioma | 259770 | C0432252 | OMIM | 1 | | 861 | 6697 | 603506 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | LRP5 CL E G H | 4041 | 259770 | Osteoporosis with pseudoglioma | 259770 | C0432252 | OMIM | 1 | | 861 | 6697 | 603506 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | LRP5 CL E G H | 4041 | 259770 | Osteoporosis with pseudoglioma | 259770 | C0432252 | OMIM | 1 | | 1127 | 6697 | 603506 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | LRP5 CL E G H | 4041 | 259770 | Osteoporosis with pseudoglioma | 259770 | C0432252 | OMIM | 1 | | 1127 | 6697 | 603506 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | LRP5 CL E G H | 4041 | 259770 | Osteoporosis with pseudoglioma | 259770 | C0432252 | OMIM | 1 | | 1127 | 6697 | 603506 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | NR2E3 CL E G H | 10002 | 268100 | Enhanced s-cone syndrome | 268100 | C1849394 | OMIM | 1 | | 363 | 7974 | 604485 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | NR2E3 CL E G H | 10002 | 268100 | Enhanced s-cone syndrome | 268100 | C1849394 | OMIM | 1 | | 363 | 7974 | 604485 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | NR2E3 CL E G H | 10002 | 268100 | Enhanced s-cone syndrome | 268100 | C1849394 | OMIM | 1 | | 363 | 7974 | 604485 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | NR2E3 CL E G H | 10002 | 268100 | Enhanced s-cone syndrome | 268100 | C1849394 | OMIM | 1 | | 422 | 7974 | 604485 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | NR2E3 CL E G H | 10002 | 268100 | Enhanced s-cone syndrome | 268100 | C1849394 | OMIM | 1 | | 422 | 7974 | 604485 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | NR2E3 CL E G H | 10002 | 268100 | Enhanced s-cone syndrome | 268100 | C1849394 | OMIM | 1 | | 363 | 7974 | 604485 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | NR2E3 CL E G H | 10002 | 268100 | Enhanced s-cone syndrome | 268100 | C1849394 | OMIM | 1 | | 363 | 7974 | 604485 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | NR2E3 CL E G H | 10002 | 268100 | Enhanced s-cone syndrome | 268100 | C1849394 | OMIM | 1 | | 422 | 7974 | 604485 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | NR2E3 CL E G H | 10002 | 268100 | Enhanced s-cone syndrome | 268100 | C1849394 | OMIM | 1 | | 422 | 7974 | 604485 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | NR2E3 CL E G H | 10002 | 268100 | Enhanced s-cone syndrome | 268100 | C1849394 | OMIM | 1 | | 422 | 7974 | 604485 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | VCAN CL E G H | 1462 | 143200 | Wagner syndrome | 143200 | C0339540 | OMIM | 1 | | 783 | 2464 | 118661 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | VCAN CL E G H | 1462 | 143200 | Wagner syndrome | 143200 | C0339540 | OMIM | 1 | | 783 | 2464 | 118661 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | VCAN CL E G H | 1462 | 143200 | Wagner syndrome | 143200 | C0339540 | OMIM | 1 | | 783 | 2464 | 118661 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | VCAN CL E G H | 1462 | 143200 | Wagner syndrome | 143200 | C0339540 | OMIM | 1 | | 1111 | 2464 | 118661 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | VCAN CL E G H | 1462 | 143200 | Wagner syndrome | 143200 | C0339540 | OMIM | 1 | | 1111 | 2464 | 118661 |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | VCAN CL E G H | 1462 | 143200 | Wagner syndrome | 143200 | C0339540 | OMIM | 1 | | 783 | 2464 | 118661 |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | VCAN CL E G H | 1462 | 143200 | Wagner syndrome | 143200 | C0339540 | OMIM | 1 | | 783 | 2464 | 118661 |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | VCAN CL E G H | 1462 | 143200 | Wagner syndrome | 143200 | C0339540 | OMIM | 1 | | 1111 | 2464 | 118661 |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | VCAN CL E G H | 1462 | 143200 | Wagner syndrome | 143200 | C0339540 | OMIM | 1 | | 1111 | 2464 | 118661 |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | VCAN CL E G H | 1462 | 143200 | Wagner syndrome | 143200 | C0339540 | OMIM | 1 | | 1111 | 2464 | 118661 |
HPO disease - gene - phenotype less frequent non-typical associations: |