Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | BAP1 CL E G H | 8314 | 950 | OMIM:619762 | KURY-ISIDOR SYNDROME; KURIS | | | | 184 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | CAPN5 CL E G H | 726 | 1482 | OMIM:193235 | Vitreoretinopathy, neovascular inflammatory | . | | | 6 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040282 - Frequent | | | 215 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:560 | Marshall syndrome | HP:0040282 - Frequent | | | 215 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL11A1 CL E G H | 1301 | 2186 | OMIM:154780 | Marshall syndrome | . | | | 215 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL18A1 CL E G H | 80781 | 2195 | ORPHA:1571 | Knobloch syndrome | HP:0040282 - Frequent | | | 177 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | . | | | 177 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:485 | Kniest dysplasia | HP:0040281 - Very frequent | | | 284 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:183900 | Spondyloepiphyseal dysplasia congenita | . | | | 284 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL2A1 CL E G H | 1280 | 2200 | OMIM:108300 | Stickler syndrome, type I | | | | 284 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL9A1 CL E G H | 1297 | 2217 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040282 - Frequent | | | 110 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL9A1 CL E G H | 1297 | 2217 | OMIM:614134 | STICKLER SYNDROME, TYPE IV; STL4 | | | | 110 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL9A2 CL E G H | 1298 | 2218 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040282 - Frequent | | | 110 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL9A2 CL E G H | 1298 | 2218 | OMIM:614284 | Stickler syndrome, type V | . | | | 110 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | COL9A3 CL E G H | 1299 | 2219 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040282 - Frequent | | | 137 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | CRB1 CL E G H | 23418 | 2343 | OMIM:172870 | Pigmented paravenous chorioretinal atrophy | . | | | 156 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:617572 | Exudative vitreoretinopathy 7 | . | | | 88 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | CTNNB1 CL E G H | 1499 | 2514 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040280 - Obligate | | | 88 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:615075 | Neurodevelopmental disorder with spastic diplegia and visual defects | | | | 88 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | ERBB3 CL E G H | 2065 | 3431 | OMIM:607598 | Lethal congenital contracture syndrome 2 | | | | 12 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | FZD4 CL E G H | 8322 | 4042 | OMIM:133780 | Exudative vitreoretinopathy 1 | | | | 109 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | FZD4 CL E G H | 8322 | 4042 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040280 - Obligate | | | 109 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | KCNJ13 CL E G H | 3769 | 6259 | OMIM:193230 | Snowflake vitreoretinal degeneration | | | | 42 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | LOXL3 CL E G H | 84695 | 13869 | ORPHA:250984 | Autosomal recessive Stickler syndrome | HP:0040282 - Frequent | | | 4 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:133780 | Exudative vitreoretinopathy 1 | | | | 125 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:601813 | Exudative vitreoretinopathy 4 | | | | 125 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040280 - Obligate | | | 125 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | LRP5 CL E G H | 4041 | 6697 | OMIM:259770 | Osteoporosis-Pseudoglioma syndrome | . | | | 125 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:2788 | Osteoporosis-pseudoglioma syndrome | | | | 125 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | NDP CL E G H | 4693 | 7678 | OMIM:305390 | Exudative vitreoretinopathy 2, X-linked | | | | 39 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040280 - Obligate | | | 39 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | NR2E3 CL E G H | 10002 | 7974 | OMIM:268100 | Enhanced S-cone syndrome | . | | | 58 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | P3H2 CL E G H | 55214 | 19317 | OMIM:614292 | Myopia, high, with cataract and vitreoretinal degeneration | | | | 5 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | PAK2 CL E G H | 5062 | 8591 | OMIM:618458 | | | | | | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | PAK2 CL E G H | 5062 | 8591 | ORPHA:1571 | Knobloch syndrome | HP:0040282 - Frequent | | | | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | TSPAN12 CL E G H | 23554 | 21641 | OMIM:613310 | Exudative vitreoretinopathy 5 | | | | 39 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | TSPAN12 CL E G H | 23554 | 21641 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040280 - Obligate | | | 39 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | VCAN CL E G H | 1462 | 2464 | OMIM:143200 | Wagner vitreoretinopathy | . | | | 180 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | ZNF408 CL E G H | 79797 | 20041 | OMIM:616468 | Exudative vitreoretinopathy 6 | | | | 14 | | |
HP:0007773 | HP:0007773 | Vitreoretinopathy | 0 | ZNF408 CL E G H | 79797 | 20041 | ORPHA:891 | Familial exudative vitreoretinopathy | HP:0040280 - Obligate | | | 14 | | |
HP:0007773 | HP:0030673 | Erosive vitreoretinopathy | 1 | CL E G H | | | | | | | | | | |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | BAP1 CL E G H | 8314 | 950 | OMIM:619762 | KURY-ISIDOR SYNDROME; KURIS | | | | 184 | | |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | COL2A1 CL E G H | 1280 | 2200 | ORPHA:485 | Kniest dysplasia | HP:0040281 - Very frequent | | | 284 | | |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | COL9A1 CL E G H | 1297 | 2217 | OMIM:614134 | STICKLER SYNDROME, TYPE IV; STL4 | | | | 110 | | |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:617572 | Exudative vitreoretinopathy 7 | | | | 88 | | |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | CTNNB1 CL E G H | 1499 | 2514 | OMIM:615075 | Neurodevelopmental disorder with spastic diplegia and visual defects | HP:0040284 - Very rare | | | 88 | | |
HP:0007773 | HP:0007964 | Degenerative vitreoretinopathy | 1 | ERBB3 CL E G H | 2065 | 3431 | OMIM:607598 | Lethal congenital contracture syndrome 2 | . | | | 12 | | |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | FZD4 CL E G H | 8322 | 4042 | OMIM:133780 | Exudative vitreoretinopathy 1 | . | | | 109 | | |
HP:0007773 | HP:0011533 | Snowflake vitreoretinal degeneration | 1 | KCNJ13 CL E G H | 3769 | 6259 | OMIM:193230 | Snowflake vitreoretinal degeneration | | | | 42 | | |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | LRP5 CL E G H | 4041 | 6697 | OMIM:133780 | Exudative vitreoretinopathy 1 | . | | | 125 | | |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | LRP5 CL E G H | 4041 | 6697 | OMIM:601813 | Exudative vitreoretinopathy 4 | . | | | 125 | | |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | LRP5 CL E G H | 4041 | 6697 | ORPHA:2788 | Osteoporosis-pseudoglioma syndrome | HP:0040282 - Frequent | | | 125 | | |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | NDP CL E G H | 4693 | 7678 | OMIM:305390 | Exudative vitreoretinopathy 2, X-linked | . | | | 39 | | |
HP:0007773 | HP:0200071 | Peripheral vitreoretinal degeneration | 1 | P3H2 CL E G H | 55214 | 19317 | OMIM:614292 | Myopia, high, with cataract and vitreoretinal degeneration | . | | | 5 | | |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | TSPAN12 CL E G H | 23554 | 21641 | OMIM:613310 | Exudative vitreoretinopathy 5 | . | | | 39 | | |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | VCAN CL E G H | 1462 | 2464 | OMIM:143200 | Wagner vitreoretinopathy | HP:0040283 - Occasional | | | 180 | | |
HP:0007773 | HP:0030490 | Exudative vitreoretinopathy | 1 | ZNF408 CL E G H | 79797 | 20041 | OMIM:616468 | Exudative vitreoretinopathy 6 | . | | | 14 | | |