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:0030469 | HP:0030469 | Abnormal dark-adapted electroretinogram | 0 | ABCA4 CL E G H | 24 | 34 | OMIM:604116 | CONE-ROD DYSTROPHY 3; CORD3 | | | | 826 | | |
HP:0030469 | HP:0030469 | Abnormal dark-adapted electroretinogram | 0 | CABP4 CL E G H | 57010 | 1386 | OMIM:610427 | Cone-Rod synaptic disorder, congenital nonprogressive | | | | 94 | | |
HP:0030469 | HP:0030469 | Abnormal dark-adapted electroretinogram | 0 | CABP4 CL E G H | 57010 | 1386 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 94 | | |
HP:0030469 | HP:0030469 | Abnormal dark-adapted electroretinogram | 0 | CACNA1F CL E G H | 778 | 1393 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 58 | | |
HP:0030469 | HP:0030469 | Abnormal dark-adapted electroretinogram | 0 | CACNA1F CL E G H | 778 | 1393 | OMIM:300071 | Night blindness, congenital stationary, type 2A | | | | 58 | | |
HP:0030469 | HP:0030469 | Abnormal dark-adapted electroretinogram | 0 | CACNA2D4 CL E G H | 93589 | 20202 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 129 | | |
HP:0030469 | HP:0030469 | Abnormal dark-adapted electroretinogram | 0 | CACNA2D4 CL E G H | 93589 | 20202 | OMIM:610478 | Retinal cone dystrophy 4 | | | | 129 | | |
HP:0030469 | HP:0030469 | Abnormal dark-adapted electroretinogram | 0 | CFAP418 CL E G H | 157657 | 27232 | OMIM:617406 | Bardet-Biedl syndrome 21 | | | | | | |
HP:0030469 | HP:0030469 | Abnormal dark-adapted electroretinogram | 0 | GNAT1 CL E G H | 2779 | 4393 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 39 | | |
HP:0030469 | HP:0030469 | Abnormal dark-adapted electroretinogram | 0 | GNB3 CL E G H | 2784 | 4400 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 5 | | |
HP:0030469 | HP:0030469 | Abnormal dark-adapted electroretinogram | 0 | GPR179 CL E G H | 440435 | 31371 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 124 | | |
HP:0030469 | HP:0030469 | Abnormal dark-adapted electroretinogram | 0 | GRK1 CL E G H | 6011 | 10013 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 4 | | |
HP:0030469 | HP:0030469 | Abnormal dark-adapted electroretinogram | 0 | GRK1 CL E G H | 6011 | 10013 | ORPHA:75382 | Oguchi disease | | | | 4 | | |
HP:0030469 | HP:0030469 | Abnormal dark-adapted electroretinogram | 0 | GRM6 CL E G H | 2916 | 4598 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 63 | | |
HP:0030469 | HP:0030469 | Abnormal dark-adapted electroretinogram | 0 | LRIT3 CL E G H | 345193 | 24783 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 54 | | |
HP:0030469 | HP:0030469 | Abnormal dark-adapted electroretinogram | 0 | NYX CL E G H | 60506 | 8082 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 42 | | |
HP:0030469 | HP:0030469 | Abnormal dark-adapted electroretinogram | 0 | PDE6B CL E G H | 5158 | 8786 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 126 | | |
HP:0030469 | HP:0030469 | Abnormal dark-adapted electroretinogram | 0 | RHO CL E G H | 6010 | 10012 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 107 | | |
HP:0030469 | HP:0030469 | Abnormal dark-adapted electroretinogram | 0 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:85128 | Bothnia retinal dystrophy | HP:0040281 - Very frequent | | | 47 | | |
HP:0030469 | HP:0030469 | Abnormal dark-adapted electroretinogram | 0 | RS1 CL E G H | 6247 | 10457 | OMIM:312700 | Retinoschisis 1, X-linked, juvenile | | | | 148 | | |
HP:0030469 | HP:0030469 | Abnormal dark-adapted electroretinogram | 0 | SAG CL E G H | 6295 | 10521 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 32 | | |
HP:0030469 | HP:0030469 | Abnormal dark-adapted electroretinogram | 0 | SAG CL E G H | 6295 | 10521 | ORPHA:75382 | Oguchi disease | | | | 32 | | |
HP:0030469 | HP:0030469 | Abnormal dark-adapted electroretinogram | 0 | SLC24A1 CL E G H | 9187 | 10975 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 66 | | |
HP:0030469 | HP:0030469 | Abnormal dark-adapted electroretinogram | 0 | TRPM1 CL E G H | 4308 | 7146 | ORPHA:215 | Congenital stationary night blindness | HP:0040281 - Very frequent | | | 104 | | |
HP:0030469 | HP:0030471 | Abnormal dark-adapted dim flash electroretinogram | 1 | CL E G H | | | | | | | | | | |
HP:0030469 | HP:0030470 | Abnormal dark-adapted bright flash electroretinogram | 1 | ABCA4 CL E G H | 24 | 34 | OMIM:604116 | CONE-ROD DYSTROPHY 3; CORD3 | | | | 826 | | |
HP:0030469 | HP:0030470 | Abnormal dark-adapted bright flash electroretinogram | 1 | CABP4 CL E G H | 57010 | 1386 | OMIM:610427 | Cone-Rod synaptic disorder, congenital nonprogressive | | | | 94 | | |
HP:0030469 | HP:0030470 | Abnormal dark-adapted bright flash electroretinogram | 1 | CABP4 CL E G H | 57010 | 1386 | ORPHA:215 | Congenital stationary night blindness | | | | 94 | | |
HP:0030469 | HP:0030470 | Abnormal dark-adapted bright flash electroretinogram | 1 | CACNA1F CL E G H | 778 | 1393 | ORPHA:215 | Congenital stationary night blindness | | | | 58 | | |
HP:0030469 | HP:0030470 | Abnormal dark-adapted bright flash electroretinogram | 1 | CACNA1F CL E G H | 778 | 1393 | OMIM:300071 | Night blindness, congenital stationary, type 2A | | | | 58 | | |
HP:0030469 | HP:0030470 | Abnormal dark-adapted bright flash electroretinogram | 1 | CACNA2D4 CL E G H | 93589 | 20202 | ORPHA:215 | Congenital stationary night blindness | | | | 129 | | |
HP:0030469 | HP:0030470 | Abnormal dark-adapted bright flash electroretinogram | 1 | CACNA2D4 CL E G H | 93589 | 20202 | OMIM:610478 | Retinal cone dystrophy 4 | | | | 129 | | |
HP:0030469 | HP:0030470 | Abnormal dark-adapted bright flash electroretinogram | 1 | CFAP418 CL E G H | 157657 | 27232 | OMIM:617406 | Bardet-Biedl syndrome 21 | | | | | | |
HP:0030469 | HP:0030470 | Abnormal dark-adapted bright flash electroretinogram | 1 | GNAT1 CL E G H | 2779 | 4393 | ORPHA:215 | Congenital stationary night blindness | | | | 39 | | |
HP:0030469 | HP:0030470 | Abnormal dark-adapted bright flash electroretinogram | 1 | GNB3 CL E G H | 2784 | 4400 | ORPHA:215 | Congenital stationary night blindness | | | | 5 | | |
HP:0030469 | HP:0030470 | Abnormal dark-adapted bright flash electroretinogram | 1 | GPR179 CL E G H | 440435 | 31371 | ORPHA:215 | Congenital stationary night blindness | | | | 124 | | |
HP:0030469 | HP:0030470 | Abnormal dark-adapted bright flash electroretinogram | 1 | GRK1 CL E G H | 6011 | 10013 | ORPHA:215 | Congenital stationary night blindness | | | | 4 | | |
HP:0030469 | HP:0030470 | Abnormal dark-adapted bright flash electroretinogram | 1 | GRK1 CL E G H | 6011 | 10013 | ORPHA:75382 | Oguchi disease | | | | 4 | | |
HP:0030469 | HP:0030470 | Abnormal dark-adapted bright flash electroretinogram | 1 | GRM6 CL E G H | 2916 | 4598 | ORPHA:215 | Congenital stationary night blindness | | | | 63 | | |
HP:0030469 | HP:0030470 | Abnormal dark-adapted bright flash electroretinogram | 1 | LRIT3 CL E G H | 345193 | 24783 | ORPHA:215 | Congenital stationary night blindness | | | | 54 | | |
HP:0030469 | HP:0030470 | Abnormal dark-adapted bright flash electroretinogram | 1 | NYX CL E G H | 60506 | 8082 | ORPHA:215 | Congenital stationary night blindness | | | | 42 | | |
HP:0030469 | HP:0030470 | Abnormal dark-adapted bright flash electroretinogram | 1 | PDE6B CL E G H | 5158 | 8786 | ORPHA:215 | Congenital stationary night blindness | | | | 126 | | |
HP:0030469 | HP:0030470 | Abnormal dark-adapted bright flash electroretinogram | 1 | RHO CL E G H | 6010 | 10012 | ORPHA:215 | Congenital stationary night blindness | | | | 107 | | |
HP:0030469 | HP:0030474 | Undetectable dark-adapted electroretinogram | 1 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:85128 | Bothnia retinal dystrophy | HP:0040281 - Very frequent | | | 47 | | |
HP:0030469 | HP:0030470 | Abnormal dark-adapted bright flash electroretinogram | 1 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:85128 | Bothnia retinal dystrophy | | | | 47 | | |
HP:0030469 | HP:0030470 | Abnormal dark-adapted bright flash electroretinogram | 1 | RS1 CL E G H | 6247 | 10457 | OMIM:312700 | Retinoschisis 1, X-linked, juvenile | | | | 148 | | |
HP:0030469 | HP:0030470 | Abnormal dark-adapted bright flash electroretinogram | 1 | SAG CL E G H | 6295 | 10521 | ORPHA:215 | Congenital stationary night blindness | | | | 32 | | |
HP:0030469 | HP:0030470 | Abnormal dark-adapted bright flash electroretinogram | 1 | SAG CL E G H | 6295 | 10521 | ORPHA:75382 | Oguchi disease | | | | 32 | | |
HP:0030469 | HP:0030470 | Abnormal dark-adapted bright flash electroretinogram | 1 | SLC24A1 CL E G H | 9187 | 10975 | ORPHA:215 | Congenital stationary night blindness | | | | 66 | | |
HP:0030469 | HP:0030470 | Abnormal dark-adapted bright flash electroretinogram | 1 | TRPM1 CL E G H | 4308 | 7146 | ORPHA:215 | Congenital stationary night blindness | | | | 104 | | |
HP:0030469 | HP:0030477 | Abnormal timing of dark-adapted bright flash electroretinogram | 2 | CL E G H | | | | | | | | | | |
HP:0030469 | HP:0030476 | Abnormal amplitude of dark-adapted dim flash electroretinogram | 2 | CL E G H | | | | | | | | | | |
HP:0030469 | HP:0030475 | Abnormal timing of dark-adapted dim flash electroretinogram | 2 | CL E G H | | | | | | | | | | |
HP:0030469 | HP:0030478 | Abnormal amplitude of dark-adapted bright flash electroretinogram | 2 | ABCA4 CL E G H | 24 | 34 | OMIM:604116 | CONE-ROD DYSTROPHY 3; CORD3 | | | | 826 | | |
HP:0030469 | HP:0030478 | Abnormal amplitude of dark-adapted bright flash electroretinogram | 2 | CABP4 CL E G H | 57010 | 1386 | OMIM:610427 | Cone-Rod synaptic disorder, congenital nonprogressive | | | | 94 | | |
HP:0030469 | HP:0030478 | Abnormal amplitude of dark-adapted bright flash electroretinogram | 2 | CABP4 CL E G H | 57010 | 1386 | ORPHA:215 | Congenital stationary night blindness | | | | 94 | | |
HP:0030469 | HP:0030478 | Abnormal amplitude of dark-adapted bright flash electroretinogram | 2 | CACNA1F CL E G H | 778 | 1393 | ORPHA:215 | Congenital stationary night blindness | | | | 58 | | |
HP:0030469 | HP:0030478 | Abnormal amplitude of dark-adapted bright flash electroretinogram | 2 | CACNA1F CL E G H | 778 | 1393 | OMIM:300071 | Night blindness, congenital stationary, type 2A | | | | 58 | | |
HP:0030469 | HP:0030478 | Abnormal amplitude of dark-adapted bright flash electroretinogram | 2 | CACNA2D4 CL E G H | 93589 | 20202 | ORPHA:215 | Congenital stationary night blindness | | | | 129 | | |
HP:0030469 | HP:0030478 | Abnormal amplitude of dark-adapted bright flash electroretinogram | 2 | CACNA2D4 CL E G H | 93589 | 20202 | OMIM:610478 | Retinal cone dystrophy 4 | | | | 129 | | |
HP:0030469 | HP:0030478 | Abnormal amplitude of dark-adapted bright flash electroretinogram | 2 | CFAP418 CL E G H | 157657 | 27232 | OMIM:617406 | Bardet-Biedl syndrome 21 | | | | | | |
HP:0030469 | HP:0030478 | Abnormal amplitude of dark-adapted bright flash electroretinogram | 2 | GNAT1 CL E G H | 2779 | 4393 | ORPHA:215 | Congenital stationary night blindness | | | | 39 | | |
HP:0030469 | HP:0030478 | Abnormal amplitude of dark-adapted bright flash electroretinogram | 2 | GNB3 CL E G H | 2784 | 4400 | ORPHA:215 | Congenital stationary night blindness | | | | 5 | | |
HP:0030469 | HP:0030478 | Abnormal amplitude of dark-adapted bright flash electroretinogram | 2 | GPR179 CL E G H | 440435 | 31371 | ORPHA:215 | Congenital stationary night blindness | | | | 124 | | |
HP:0030469 | HP:0030478 | Abnormal amplitude of dark-adapted bright flash electroretinogram | 2 | GRK1 CL E G H | 6011 | 10013 | ORPHA:215 | Congenital stationary night blindness | | | | 4 | | |
HP:0030469 | HP:0030478 | Abnormal amplitude of dark-adapted bright flash electroretinogram | 2 | GRK1 CL E G H | 6011 | 10013 | ORPHA:75382 | Oguchi disease | | | | 4 | | |
HP:0030469 | HP:0030478 | Abnormal amplitude of dark-adapted bright flash electroretinogram | 2 | GRM6 CL E G H | 2916 | 4598 | ORPHA:215 | Congenital stationary night blindness | | | | 63 | | |
HP:0030469 | HP:0030478 | Abnormal amplitude of dark-adapted bright flash electroretinogram | 2 | LRIT3 CL E G H | 345193 | 24783 | ORPHA:215 | Congenital stationary night blindness | | | | 54 | | |
HP:0030469 | HP:0030478 | Abnormal amplitude of dark-adapted bright flash electroretinogram | 2 | NYX CL E G H | 60506 | 8082 | ORPHA:215 | Congenital stationary night blindness | | | | 42 | | |
HP:0030469 | HP:0030478 | Abnormal amplitude of dark-adapted bright flash electroretinogram | 2 | PDE6B CL E G H | 5158 | 8786 | ORPHA:215 | Congenital stationary night blindness | | | | 126 | | |
HP:0030469 | HP:0030478 | Abnormal amplitude of dark-adapted bright flash electroretinogram | 2 | RHO CL E G H | 6010 | 10012 | ORPHA:215 | Congenital stationary night blindness | | | | 107 | | |
HP:0030469 | HP:0030478 | Abnormal amplitude of dark-adapted bright flash electroretinogram | 2 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:85128 | Bothnia retinal dystrophy | | | | 47 | | |
HP:0030469 | HP:0030478 | Abnormal amplitude of dark-adapted bright flash electroretinogram | 2 | RS1 CL E G H | 6247 | 10457 | OMIM:312700 | Retinoschisis 1, X-linked, juvenile | | | | 148 | | |
HP:0030469 | HP:0030478 | Abnormal amplitude of dark-adapted bright flash electroretinogram | 2 | SAG CL E G H | 6295 | 10521 | ORPHA:215 | Congenital stationary night blindness | | | | 32 | | |
HP:0030469 | HP:0030478 | Abnormal amplitude of dark-adapted bright flash electroretinogram | 2 | SAG CL E G H | 6295 | 10521 | ORPHA:75382 | Oguchi disease | | | | 32 | | |
HP:0030469 | HP:0030478 | Abnormal amplitude of dark-adapted bright flash electroretinogram | 2 | SLC24A1 CL E G H | 9187 | 10975 | ORPHA:215 | Congenital stationary night blindness | | | | 66 | | |
HP:0030469 | HP:0030478 | Abnormal amplitude of dark-adapted bright flash electroretinogram | 2 | TRPM1 CL E G H | 4308 | 7146 | ORPHA:215 | Congenital stationary night blindness | | | | 104 | | |
HP:0030469 | HP:0030484 | Supernormal dark-adapted bright flash electroretinogram b-wave | 3 | CL E G H | | | | | | | | | | |
HP:0030469 | HP:0007984 | Electronegative electroretinogram | 3 | ABCA4 CL E G H | 24 | 34 | OMIM:604116 | CONE-ROD DYSTROPHY 3; CORD3 | | | | 826 | | |
HP:0030469 | HP:0007984 | Electronegative electroretinogram | 3 | CABP4 CL E G H | 57010 | 1386 | OMIM:610427 | Cone-Rod synaptic disorder, congenital nonprogressive | | | | 94 | | |
HP:0030469 | HP:0007984 | Electronegative electroretinogram | 3 | CABP4 CL E G H | 57010 | 1386 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 94 | | |
HP:0030469 | HP:0030483 | Reduced amplitude of dark-adapted bright flash electroretinogram a-wave | 3 | CABP4 CL E G H | 57010 | 1386 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 94 | | |
HP:0030469 | HP:0030483 | Reduced amplitude of dark-adapted bright flash electroretinogram a-wave | 3 | CACNA1F CL E G H | 778 | 1393 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 58 | | |
HP:0030469 | HP:0007984 | Electronegative electroretinogram | 3 | CACNA1F CL E G H | 778 | 1393 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 58 | | |
HP:0030469 | HP:0007984 | Electronegative electroretinogram | 3 | CACNA1F CL E G H | 778 | 1393 | OMIM:300071 | Night blindness, congenital stationary, type 2A | | | | 58 | | |
HP:0030469 | HP:0007984 | Electronegative electroretinogram | 3 | CACNA2D4 CL E G H | 93589 | 20202 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 129 | | |
HP:0030469 | HP:0030483 | Reduced amplitude of dark-adapted bright flash electroretinogram a-wave | 3 | CACNA2D4 CL E G H | 93589 | 20202 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 129 | | |
HP:0030469 | HP:0007984 | Electronegative electroretinogram | 3 | CACNA2D4 CL E G H | 93589 | 20202 | OMIM:610478 | Retinal cone dystrophy 4 | | | | 129 | | |
HP:0030469 | HP:0030483 | Reduced amplitude of dark-adapted bright flash electroretinogram a-wave | 3 | CFAP418 CL E G H | 157657 | 27232 | OMIM:617406 | Bardet-Biedl syndrome 21 | | | | | | |
HP:0030469 | HP:0030483 | Reduced amplitude of dark-adapted bright flash electroretinogram a-wave | 3 | GNAT1 CL E G H | 2779 | 4393 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 39 | | |
HP:0030469 | HP:0007984 | Electronegative electroretinogram | 3 | GNAT1 CL E G H | 2779 | 4393 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 39 | | |
HP:0030469 | HP:0030483 | Reduced amplitude of dark-adapted bright flash electroretinogram a-wave | 3 | GNB3 CL E G H | 2784 | 4400 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 5 | | |
HP:0030469 | HP:0007984 | Electronegative electroretinogram | 3 | GNB3 CL E G H | 2784 | 4400 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 5 | | |
HP:0030469 | HP:0007984 | Electronegative electroretinogram | 3 | GPR179 CL E G H | 440435 | 31371 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 124 | | |
HP:0030469 | HP:0030483 | Reduced amplitude of dark-adapted bright flash electroretinogram a-wave | 3 | GPR179 CL E G H | 440435 | 31371 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 124 | | |
HP:0030469 | HP:0007984 | Electronegative electroretinogram | 3 | GRK1 CL E G H | 6011 | 10013 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 4 | | |
HP:0030469 | HP:0030483 | Reduced amplitude of dark-adapted bright flash electroretinogram a-wave | 3 | GRK1 CL E G H | 6011 | 10013 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 4 | | |
HP:0030469 | HP:0007984 | Electronegative electroretinogram | 3 | GRK1 CL E G H | 6011 | 10013 | ORPHA:75382 | Oguchi disease | HP:0040281 - Very frequent | | | 4 | | |
HP:0030469 | HP:0007984 | Electronegative electroretinogram | 3 | GRM6 CL E G H | 2916 | 4598 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 63 | | |
HP:0030469 | HP:0030483 | Reduced amplitude of dark-adapted bright flash electroretinogram a-wave | 3 | GRM6 CL E G H | 2916 | 4598 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 63 | | |
HP:0030469 | HP:0030483 | Reduced amplitude of dark-adapted bright flash electroretinogram a-wave | 3 | LRIT3 CL E G H | 345193 | 24783 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 54 | | |
HP:0030469 | HP:0007984 | Electronegative electroretinogram | 3 | LRIT3 CL E G H | 345193 | 24783 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 54 | | |
HP:0030469 | HP:0030483 | Reduced amplitude of dark-adapted bright flash electroretinogram a-wave | 3 | NYX CL E G H | 60506 | 8082 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 42 | | |
HP:0030469 | HP:0007984 | Electronegative electroretinogram | 3 | NYX CL E G H | 60506 | 8082 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 42 | | |
HP:0030469 | HP:0007984 | Electronegative electroretinogram | 3 | PDE6B CL E G H | 5158 | 8786 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 126 | | |
HP:0030469 | HP:0030483 | Reduced amplitude of dark-adapted bright flash electroretinogram a-wave | 3 | PDE6B CL E G H | 5158 | 8786 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 126 | | |
HP:0030469 | HP:0030483 | Reduced amplitude of dark-adapted bright flash electroretinogram a-wave | 3 | RHO CL E G H | 6010 | 10012 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 107 | | |
HP:0030469 | HP:0007984 | Electronegative electroretinogram | 3 | RHO CL E G H | 6010 | 10012 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 107 | | |
HP:0030469 | HP:0007984 | Electronegative electroretinogram | 3 | RLBP1 CL E G H | 6017 | 10024 | ORPHA:85128 | Bothnia retinal dystrophy | HP:0040283 - Occasional | | | 47 | | |
HP:0030469 | HP:0007984 | Electronegative electroretinogram | 3 | RS1 CL E G H | 6247 | 10457 | OMIM:312700 | Retinoschisis 1, X-linked, juvenile | | | | 148 | | |
HP:0030469 | HP:0030483 | Reduced amplitude of dark-adapted bright flash electroretinogram a-wave | 3 | SAG CL E G H | 6295 | 10521 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 32 | | |
HP:0030469 | HP:0007984 | Electronegative electroretinogram | 3 | SAG CL E G H | 6295 | 10521 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 32 | | |
HP:0030469 | HP:0007984 | Electronegative electroretinogram | 3 | SAG CL E G H | 6295 | 10521 | ORPHA:75382 | Oguchi disease | HP:0040281 - Very frequent | | | 32 | | |
HP:0030469 | HP:0030483 | Reduced amplitude of dark-adapted bright flash electroretinogram a-wave | 3 | SLC24A1 CL E G H | 9187 | 10975 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 66 | | |
HP:0030469 | HP:0007984 | Electronegative electroretinogram | 3 | SLC24A1 CL E G H | 9187 | 10975 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 66 | | |
HP:0030469 | HP:0007984 | Electronegative electroretinogram | 3 | TRPM1 CL E G H | 4308 | 7146 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 104 | | |
HP:0030469 | HP:0030483 | Reduced amplitude of dark-adapted bright flash electroretinogram a-wave | 3 | TRPM1 CL E G H | 4308 | 7146 | ORPHA:215 | Congenital stationary night blindness | HP:0040283 - Occasional | | | 104 | | |