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:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 1 | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | ATP6 CL E G H | 4508 | 7414 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | ATP6 CL E G H | 4508 | 7414 | ORPHA:644 | NARP syndrome | | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | CENPF CL E G H | 1063 | 1857 | OMIM:243605 | Stromme syndrome | . | | | 27 | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:611773 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | | | | 193 | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | | | | 193 | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | COL4A1 CL E G H | 1282 | 2202 | ORPHA:73229 | HANAC syndrome | HP:0040281 - Very frequent | | | 193 | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | COL4A1 CL E G H | 1282 | 2202 | OMIM:180000 | Retinal arteries, tortuosity of | | | | 193 | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 6 | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | COX1 CL E G H | 4512 | 7419 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | COX3 CL E G H | 4514 | 7422 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | COX3 CL E G H | 4514 | 7422 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | CYTB CL E G H | 4519 | 7427 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | CYTB CL E G H | 4519 | 7427 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | DGCR2 CL E G H | 9993 | 2845 | OMIM:192430 | Velocardiofacial syndrome | . | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | DGCR6 CL E G H | 8214 | 2846 | OMIM:192430 | Velocardiofacial syndrome | . | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | DGCR8 CL E G H | 54487 | 2847 | OMIM:192430 | Velocardiofacial syndrome | . | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | DNAJC30 CL E G H | 84277 | 16410 | OMIM:619382 | LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR | | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | | | | 172 | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | ESS2 CL E G H | 8220 | 16817 | OMIM:192430 | Velocardiofacial syndrome | . | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | ETHE1 CL E G H | 23474 | 23287 | ORPHA:51188 | Ethylmalonic encephalopathy | HP:0040282 - Frequent | | | 42 | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | FZD4 CL E G H | 8322 | 4042 | ORPHA:90050 | Retinopathy of prematurity | | | | 109 | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 8 | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 3 | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:619471 | BARDET-BIEDL SYNDROME 20; BBS20 | | | | 48 | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 2 | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | LAMB2 CL E G H | 3913 | 6487 | OMIM:609049 | Pierson syndrome | | | | 92 | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | LRP5 CL E G H | 4041 | 6697 | ORPHA:90050 | Retinopathy of prematurity | | | | 125 | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | | | | 1 | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | | | | 13 | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | ND1 CL E G H | 4535 | 7455 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | ND1 CL E G H | 4535 | 7455 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | ND2 CL E G H | 4536 | 7456 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | ND2 CL E G H | 4536 | 7456 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | ND4 CL E G H | 4538 | 7459 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | ND4 CL E G H | 4538 | 7459 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | ND4L CL E G H | 4539 | 7460 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | ND4L CL E G H | 4539 | 7460 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | ND5 CL E G H | 4540 | 7461 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | ND5 CL E G H | 4540 | 7461 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | ND6 CL E G H | 4541 | 7462 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | ND6 CL E G H | 4541 | 7462 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | NDP CL E G H | 4693 | 7678 | OMIM:305390 | Exudative vitreoretinopathy 2, X-linked | HP:0040283 - Occasional | | | 39 | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | NDP CL E G H | 4693 | 7678 | ORPHA:90050 | Retinopathy of prematurity | | | | 39 | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:104 | Leber hereditary optic neuropathy | HP:0040282 - Frequent | | | 65 | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | | | | 101 | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:106210 | Aniridia | | | | 194 | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | SELENOI CL E G H | 85465 | 29361 | ORPHA:506353 | Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction | | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | SELENOI CL E G H | 85465 | 29361 | OMIM:618768 | SPASTIC PARAPLEGIA 81, AUTOSOMAL RECESSIVE; SPG81 | | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | | | | 32 | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | TBX1 CL E G H | 6899 | 11592 | OMIM:192430 | Velocardiofacial syndrome | . | | | 32 | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | | | | | | |
HP:0012841 | HP:0012841 | Retinal vascular tortuosity | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:106210 | Aniridia | | | | 177 | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | ARVCF CL E G H | 421 | 728 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0012841 | HP:0000631 | Retinal arterial tortuosity | 1 | ATP6 CL E G H | 4508 | 7414 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | ATP6 CL E G H | 4508 | 7414 | ORPHA:644 | NARP syndrome | HP:0040282 - Frequent | | | | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | BAZ1B CL E G H | 9031 | 961 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | BCL7B CL E G H | 9275 | 1005 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | BUD23 CL E G H | 114049 | 16405 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | CLIP2 CL E G H | 7461 | 2586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | COL4A1 CL E G H | 1282 | 2202 | OMIM:611773 | Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps | . | | | 193 | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | COL4A1 CL E G H | 1282 | 2202 | OMIM:175780 | Brain small vessel disease 1 with or without ocular anomalies | . | | | 193 | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | COL4A1 CL E G H | 1282 | 2202 | OMIM:180000 | Retinal arteries, tortuosity of | . | | | 193 | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | COMT CL E G H | 1312 | 2228 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 6 | | |
HP:0012841 | HP:0000631 | Retinal arterial tortuosity | 1 | COX3 CL E G H | 4514 | 7422 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0012841 | HP:0000631 | Retinal arterial tortuosity | 1 | CYTB CL E G H | 4519 | 7427 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0012841 | HP:0000631 | Retinal arterial tortuosity | 1 | DNAJC30 CL E G H | 84277 | 16410 | OMIM:619382 | LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR | | | | | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | DNAJC30 CL E G H | 84277 | 16410 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | EIF4H CL E G H | 7458 | 12741 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | ELN CL E G H | 2006 | 3327 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 172 | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | ELN CL E G H | 2006 | 3327 | OMIM:194050 | Williams-Beuren syndrome | | | | 172 | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | FKBP6 CL E G H | 8468 | 3722 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | FZD4 CL E G H | 8322 | 4042 | ORPHA:90050 | Retinopathy of prematurity | HP:0040283 - Occasional | | | 109 | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | GP1BB CL E G H | 2812 | 4440 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 8 | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | GTF2I CL E G H | 2969 | 4659 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | GTF2IRD1 CL E G H | 9569 | 4661 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | GTF2IRD2 CL E G H | 84163 | 30775 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | HIRA CL E G H | 7290 | 4916 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 3 | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | JMJD1C CL E G H | 221037 | 12313 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | LIMK1 CL E G H | 3984 | 6613 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | LRP5 CL E G H | 4041 | 6697 | ORPHA:90050 | Retinopathy of prematurity | HP:0040283 - Occasional | | | 125 | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | METTL27 CL E G H | 155368 | 19068 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | MLXIPL CL E G H | 51085 | 12744 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | MLXIPL CL E G H | 51085 | 12744 | OMIM:194050 | Williams-Beuren syndrome | | | | 1 | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | NCF1 CL E G H | 653361 | 7660 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0012841 | HP:0000631 | Retinal arterial tortuosity | 1 | ND1 CL E G H | 4535 | 7455 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0012841 | HP:0000631 | Retinal arterial tortuosity | 1 | ND2 CL E G H | 4536 | 7456 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0012841 | HP:0000631 | Retinal arterial tortuosity | 1 | ND4 CL E G H | 4538 | 7459 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0012841 | HP:0000631 | Retinal arterial tortuosity | 1 | ND4L CL E G H | 4539 | 7460 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0012841 | HP:0000631 | Retinal arterial tortuosity | 1 | ND5 CL E G H | 4540 | 7461 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0012841 | HP:0000631 | Retinal arterial tortuosity | 1 | ND6 CL E G H | 4541 | 7462 | OMIM:535000 | Leber optic atrophy | | | | | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | NDP CL E G H | 4693 | 7678 | ORPHA:90050 | Retinopathy of prematurity | HP:0040283 - Occasional | | | 39 | | |
HP:0012841 | HP:0000631 | Retinal arterial tortuosity | 1 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | | | | 101 | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | RFC2 CL E G H | 5982 | 9970 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | RREB1 CL E G H | 6239 | 10449 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | SEC24C CL E G H | 9632 | 10705 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0012841 | HP:0000631 | Retinal arterial tortuosity | 1 | SELENOI CL E G H | 85465 | 29361 | ORPHA:506353 | Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction | | | | | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | STX1A CL E G H | 6804 | 11433 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | TBL2 CL E G H | 26608 | 11586 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | TBX1 CL E G H | 6899 | 11592 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | 32 | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | TMEM270 CL E G H | 135886 | 23018 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | UFD1 CL E G H | 7353 | 12520 | ORPHA:567 | 22q11.2 deletion syndrome | HP:0040283 - Occasional | | | | | |
HP:0012841 | HP:0001136 | Retinal arteriolar tortuosity | 1 | VPS37D CL E G H | 155382 | 18287 | ORPHA:904 | Williams syndrome | HP:0040283 - Occasional | | | | | |
HP:0012841 | HP:0007768 | Central retinal vessel vascular tortuosity | 2 | ATP6 CL E G H | 4508 | 7414 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0012841 | HP:0007768 | Central retinal vessel vascular tortuosity | 2 | COX3 CL E G H | 4514 | 7422 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0012841 | HP:0007768 | Central retinal vessel vascular tortuosity | 2 | CYTB CL E G H | 4519 | 7427 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0012841 | HP:0007768 | Central retinal vessel vascular tortuosity | 2 | DNAJC30 CL E G H | 84277 | 16410 | OMIM:619382 | LEBER HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE; LHONAR | | | | | | |
HP:0012841 | HP:0007768 | Central retinal vessel vascular tortuosity | 2 | ND1 CL E G H | 4535 | 7455 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0012841 | HP:0007768 | Central retinal vessel vascular tortuosity | 2 | ND2 CL E G H | 4536 | 7456 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0012841 | HP:0007768 | Central retinal vessel vascular tortuosity | 2 | ND4 CL E G H | 4538 | 7459 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0012841 | HP:0007768 | Central retinal vessel vascular tortuosity | 2 | ND4L CL E G H | 4539 | 7460 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0012841 | HP:0007768 | Central retinal vessel vascular tortuosity | 2 | ND5 CL E G H | 4540 | 7461 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0012841 | HP:0007768 | Central retinal vessel vascular tortuosity | 2 | ND6 CL E G H | 4541 | 7462 | OMIM:535000 | Leber optic atrophy | . | | | | | |
HP:0012841 | HP:0007768 | Central retinal vessel vascular tortuosity | 2 | NEK1 CL E G H | 4750 | 7744 | ORPHA:2751 | Orofaciodigital syndrome type 2 | HP:0040283 - Occasional | | | 101 | | |
HP:0012841 | HP:0007768 | Central retinal vessel vascular tortuosity | 2 | SELENOI CL E G H | 85465 | 29361 | ORPHA:506353 | Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction | HP:0040282 - Frequent | | | | | |