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:0000488 | HP:0000488 | Retinopathy | 0 | ABCC6 CL E G H | 368 | 57 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040281 - Very frequent | | | 415 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040282 - Frequent | | | 245 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | ABCC8 CL E G H | 6833 | 59 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 245 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | ACD CL E G H | 65057 | 25070 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 11 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | AGXT CL E G H | 189 | 341 | OMIM:259900 | Hyperoxaluria, primary, type I | . | | | 260 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | ALDH3A2 CL E G H | 224 | 403 | ORPHA:816 | Sjögren-Larsson syndrome | HP:0040282 - Frequent | | | 87 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | ALG8 CL E G H | 79053 | 23161 | ORPHA:79325 | ALG8-CDG | HP:0040283 - Occasional | | | 46 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | AP5Z1 CL E G H | 9907 | 22197 | ORPHA:306511 | Autosomal recessive spastic paraplegia type 48 | HP:0040283 - Occasional | | | 165 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | AP5Z1 CL E G H | 9907 | 22197 | OMIM:613647 | Spastic paraplegia 48, autosomal recessive | . | | | 165 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | APOE CL E G H | 348 | 613 | ORPHA:158029 | Sea-blue histiocytosis | HP:0040283 - Occasional | | | 39 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | APPL1 CL E G H | 26060 | 24035 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 2 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | ATG7 CL E G H | 10533 | 16935 | OMIM:619422 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 31; SCAR31 | | | | 1 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | ATP6 CL E G H | 4508 | 7414 | OMIM:551500 | Neuropathy, ataxia, and retinitis pigmentosa | . | | | | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | BAP1 CL E G H | 8314 | 950 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 184 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | BCL11A CL E G H | 53335 | 13221 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 11 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | BLK CL E G H | 640 | 1057 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 75 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | BLM CL E G H | 641 | 1058 | ORPHA:125 | Bloom syndrome | HP:0040284 - Very rare | | | 314 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | C1QTNF5 CL E G H | 114902 | 14344 | OMIM:605670 | Late-Onset retinal degeneration | . | | | 20 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | C4A CL E G H | 720 | 1323 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | CCR1 CL E G H | 1230 | 1602 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | CDH3 CL E G H | 1001 | 1762 | ORPHA:1897 | EEM syndrome | HP:0040281 - Very frequent | | | 87 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | CDK4 CL E G H | 1019 | 1773 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 145 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | CDKN2A CL E G H | 1029 | 1787 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 289 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | CDKN2B CL E G H | 1030 | 1788 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 1 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | CEL CL E G H | 1056 | 1848 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 25 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | CEP41 CL E G H | 95681 | 12370 | OMIM:614464 | Joubert syndrome 15 | HP:0040283 - Occasional | | | 90 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | COL11A1 CL E G H | 1301 | 2186 | ORPHA:90654 | Stickler syndrome type 2 | HP:0040282 - Frequent | | | 215 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | CPLX1 CL E G H | 10815 | 2309 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | CREBBP CL E G H | 1387 | 2348 | ORPHA:353281 | Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | HP:0040283 - Occasional | | | 291 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | CSPP1 CL E G H | 79848 | 26193 | OMIM:615636 | Joubert syndrome 21 | HP:0040283 - Occasional | | | 57 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | CTBP1 CL E G H | 1487 | 2494 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | CTLA4 CL E G H | 1493 | 2505 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 10 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219900 | Cystinosis, late-onset juvenile or adolescent Nephropathic type | . | | | 178 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | . | | | 178 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | . | | | 27 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | HP:0040283 - Occasional | | | 27 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | ENPP1 CL E G H | 5167 | 3356 | ORPHA:758 | Pseudoxanthoma elasticum | HP:0040281 - Very frequent | | | 151 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | ERAP1 CL E G H | 51752 | 18173 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040281 - Very frequent | | | 106 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040281 - Very frequent | | | 54 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040281 - Very frequent | | | 158 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:220295 | Xeroderma pigmentosum-Cockayne syndrome complex | HP:0040281 - Very frequent | | | 83 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | FAS CL E G H | 355 | 11920 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 59 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | FGFR1 CL E G H | 2260 | 3688 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040281 - Very frequent | | | 172 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | GCK CL E G H | 2645 | 4195 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040282 - Frequent | | | 237 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | GCK CL E G H | 2645 | 4195 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 237 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252600 | Mucolipidosis III alpha/beta | . | | | 240 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | HADHA CL E G H | 3030 | 4801 | ORPHA:5 | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | HP:0040283 - Occasional | | | 99 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | HBB CL E G H | 3043 | 4827 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 580 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | HBB CL E G H | 3043 | 4827 | OMIM:603903 | Sickle cell anemia | . | | | 580 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | HBG1 CL E G H | 3047 | 4831 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 35 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | HBG2 CL E G H | 3048 | 4832 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 50 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 4 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | HLA-B CL E G H | 3106 | 4932 | ORPHA:3287 | Takayasu arteritis | HP:0040283 - Occasional | | | 4 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | HLA-DPA1 CL E G H | 3113 | 4938 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | HLA-DPB1 CL E G H | 3115 | 4940 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 1 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | HNF1A CL E G H | 6927 | 11621 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 161 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | HNF4A CL E G H | 3172 | 5024 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 138 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217093 | Mucopolysaccharidosis type 2, attenuated form | HP:0040283 - Occasional | | | 86 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | IDS CL E G H | 3423 | 5389 | ORPHA:217085 | Mucopolysaccharidosis type 2, severe form | HP:0040283 - Occasional | | | 86 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | IDUA CL E G H | 3425 | 5391 | ORPHA:93473 | Hurler syndrome | HP:0040282 - Frequent | | | 115 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | IFNGR1 CL E G H | 3459 | 5439 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 60 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | IL10 CL E G H | 3586 | 5962 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 2 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | IL12A CL E G H | 3592 | 5969 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | IL12A-AS1 CL E G H | 101928376 | 49094 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | IL12B CL E G H | 3593 | 5970 | ORPHA:3287 | Takayasu arteritis | HP:0040283 - Occasional | | | 31 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | IL23R CL E G H | 149233 | 19100 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 1 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | INS CL E G H | 3630 | 6081 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040282 - Frequent | | | 62 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | INS CL E G H | 3630 | 6081 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 62 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | INSR CL E G H | 3643 | 6091 | ORPHA:769 | Rabson-Mendenhall syndrome | HP:0040283 - Occasional | | | 229 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040282 - Frequent | | | 127 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | KCNJ11 CL E G H | 3767 | 6257 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 127 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | KIF11 CL E G H | 3832 | 6388 | ORPHA:2526 | Microcephaly-lymphedema-chorioretinopathy syndrome | HP:0040283 - Occasional | | | 46 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | KLF1 CL E G H | 10661 | 6345 | ORPHA:251380 | Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome | | | | 42 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | KLF11 CL E G H | 8462 | 11811 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 78 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | KLRC4 CL E G H | 8302 | 6377 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:2396 | Encephalocraniocutaneous lipomatosis | HP:0040281 - Very frequent | | | 196 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | LETM1 CL E G H | 3954 | 6556 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | MAPRE2 CL E G H | 10982 | 6891 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | HP:0040283 - Occasional | | | 4 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | MC1R CL E G H | 4157 | 6929 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 124 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | MCOLN1 CL E G H | 57192 | 13356 | ORPHA:578 | Mucolipidosis type IV | HP:0040281 - Very frequent | | | 78 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | MEFV CL E G H | 4210 | 6998 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 281 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | MFSD8 CL E G H | 256471 | 28486 | OMIM:610951 | Ceroid lipofuscinosis, neuronal, 7 | . | | | 120 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | MGMT CL E G H | 4255 | 7059 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 3 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | MIA3 CL E G H | 375056 | 24008 | OMIM:619269 | ODONTOCHONDRODYSPLASIA 2 WITH HEARING LOSS AND DIABETES; ODCD2 | | | | | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | MITF CL E G H | 4286 | 7105 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 91 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | MLX CL E G H | 6945 | 11645 | ORPHA:3287 | Takayasu arteritis | HP:0040283 - Occasional | | | | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | MTTP CL E G H | 4547 | 7467 | OMIM:200100 | ABETALIPOPROTEINEMIA | . | | | 81 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | MYO5A CL E G H | 4644 | 7602 | ORPHA:79476 | Griscelli syndrome type 1 | HP:0040281 - Very frequent | | | 35 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | NDUFAF1 CL E G H | 51103 | 18828 | OMIM:618234 | Mitochondrial complex I deficiency, nuclear type 11 | . | | | 40 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | NDUFAF3 CL E G H | 25915 | 29918 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | 31 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | NDUFB8 CL E G H | 4714 | 7703 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | NDUFS2 CL E G H | 4720 | 7708 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | 65 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | NELFA CL E G H | 7469 | 12768 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | NEU1 CL E G H | 4758 | 7758 | ORPHA:812 | Sialidosis type 1 | HP:0040281 - Very frequent | | | 43 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | NEUROD1 CL E G H | 4760 | 7762 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 32 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | NOD2 CL E G H | 64127 | 5331 | ORPHA:90340 | Blau syndrome | HP:0040283 - Occasional | | | 187 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | NSD2 CL E G H | 7468 | 12766 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 118 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | PANK2 CL E G H | 80025 | 15894 | ORPHA:216873 | Atypical pantothenate kinase-associated neurodegeneration | HP:0040284 - Very rare | | | 55 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | PAX4 CL E G H | 5078 | 8618 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 55 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | PDX1 CL E G H | 3651 | 6107 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040282 - Frequent | | | 30 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | PDX1 CL E G H | 3651 | 6107 | ORPHA:552 | MODY | HP:0040283 - Occasional | | | 30 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | PEX7 CL E G H | 5191 | 8860 | ORPHA:773 | Refsum disease | HP:0040281 - Very frequent | | | 72 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | PHYH CL E G H | 5264 | 8940 | ORPHA:773 | Refsum disease | HP:0040281 - Very frequent | | | 45 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | PIGG CL E G H | 54872 | 25985 | ORPHA:280 | Wolf-Hirschhorn syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | PLK4 CL E G H | 10733 | 11397 | OMIM:616171 | Microcephaly and chorioretinopathy, autosomal recessive, 2 | HP:0040283 - Occasional | | | 11 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | POT1 CL E G H | 25913 | 17284 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 23 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | PROS1 CL E G H | 5627 | 9456 | ORPHA:743 | Severe hereditary thrombophilia due to congenital protein S deficiency | HP:0040282 - Frequent | | | 75 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | PRTN3 CL E G H | 5657 | 9495 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | PRUNE1 CL E G H | 58497 | 13420 | ORPHA:544469 | PRUNE1-related neurological syndrome | | | | 8 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:77301 | Monosomy 9q22.3 | HP:0040281 - Very frequent | | | 665 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:900 | Granulomatosis with polyangiitis | HP:0040283 - Occasional | | | 3 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | SAR1B CL E G H | 51128 | 10535 | ORPHA:71 | Chylomicron retention disease | HP:0040281 - Very frequent | | | 8 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | SCO2 CL E G H | 9997 | 10604 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | 40 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | STAT3 CL E G H | 6774 | 11364 | ORPHA:99885 | Isolated permanent neonatal diabetes mellitus | HP:0040282 - Frequent | | | 110 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 2 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | SURF1 CL E G H | 6834 | 11474 | ORPHA:70474 | Leigh syndrome with cardiomyopathy | HP:0040283 - Occasional | | | 73 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | TERF2IP CL E G H | 54386 | 19246 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | TERT CL E G H | 7015 | 11730 | ORPHA:618 | Familial melanoma | HP:0040283 - Occasional | | | 238 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | TLR4 CL E G H | 7099 | 11850 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | 3 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | TMEM107 CL E G H | 84314 | 28128 | OMIM:617562 | Meckel syndrome 13 | . | | | 4 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | TMEM107 CL E G H | 84314 | 28128 | OMIM:617563 | Orofaciodigital syndrome XVI | . | | | 4 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | TMEM231 CL E G H | 79583 | 37234 | OMIM:614970 | Joubert syndrome 20 | HP:0040283 - Occasional | | | 33 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | TNFRSF11B CL E G H | 4982 | 11909 | OMIM:239000 | Paget disease of bone 5, juvenile-onset | HP:0040283 - Occasional | | | 44 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | TRIM32 CL E G H | 22954 | 16380 | OMIM:615988 | Bardet-Biedl syndrome 11 | . | | | 108 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | TRNE CL E G H | 4556 | 7479 | ORPHA:225 | Maternally-inherited diabetes and deafness | HP:0040283 - Occasional | | | | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | TRNK CL E G H | 4566 | 7489 | ORPHA:225 | Maternally-inherited diabetes and deafness | HP:0040283 - Occasional | | | | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | TRNL1 CL E G H | 4567 | 7490 | ORPHA:225 | Maternally-inherited diabetes and deafness | HP:0040283 - Occasional | | | | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | TUBB CL E G H | 203068 | 20778 | ORPHA:2505 | Multiple benign circumferential skin creases on limbs | HP:0040283 - Occasional | | | 14 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | TULP1 CL E G H | 7287 | 12423 | OMIM:613843 | Leber congenital amaurosis 15 | . | | | 66 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | TXN2 CL E G H | 25828 | 17772 | ORPHA:478029 | Combined oxidative phosphorylation defect type 29 | HP:0040281 - Very frequent | | | 1 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | TXN2 CL E G H | 25828 | 17772 | OMIM:616811 | Combined oxidative phosphorylation deficiency 29 | . | | | 1 | | |
HP:0000488 | HP:0000488 | Retinopathy | 0 | UBAC2 CL E G H | 337867 | 20486 | ORPHA:117 | Behçet disease | HP:0040283 - Occasional | | | | | |
HP:0000488 | HP:0500049 | Retinopathy of prematurity | 1 | CL E G H | | | | | | | | | | |
HP:0000488 | HP:0500061 | Retinopathy of prematurity zone III | 2 | CL E G H | | | | | | | | | | |
HP:0000488 | HP:0500060 | Retinopathy of prematurity zone II | 2 | CL E G H | | | | | | | | | | |
HP:0000488 | HP:0500053 | Retinopathy of prematurity stage 4 | 2 | CL E G H | | | | | | | | | | |
HP:0000488 | HP:0500059 | Retinopathy of prematurity zone I | 2 | CL E G H | | | | | | | | | | |
HP:0000488 | HP:0500065 | Retinopathy of prematurity prethreshold | 2 | CL E G H | | | | | | | | | | |
HP:0000488 | HP:0500052 | Retinopathy of prematurity stage 3 | 2 | CL E G H | | | | | | | | | | |
HP:0000488 | HP:0500064 | Retinopathy of prematurity threshold | 2 | CL E G H | | | | | | | | | | |
HP:0000488 | HP:0500051 | Retinopathy of prematurity stage 2 | 2 | CL E G H | | | | | | | | | | |
HP:0000488 | HP:0500063 | Retinopathy of prematurity pre-plus | 2 | CL E G H | | | | | | | | | | |
HP:0000488 | HP:0500050 | Retinopathy of prematurity stage 1 | 2 | CL E G H | | | | | | | | | | |
HP:0000488 | HP:0500056 | Retinopathy of prematurity stage 5 | 2 | CL E G H | | | | | | | | | | |
HP:0000488 | HP:0500062 | Retinopathy of prematurity plus | 2 | CL E G H | | | | | | | | | | |
HP:0000488 | HP:0500054 | Retinopathy of prematurity stage 4a | 3 | CL E G H | | | | | | | | | | |
HP:0000488 | HP:0500058 | Retinopathy of prematurity stage 5b | 3 | CL E G H | | | | | | | | | | |
HP:0000488 | HP:0500057 | Retinopathy of prematurity stage 5a | 3 | CL E G H | | | | | | | | | | |
HP:0000488 | HP:0500055 | Retinopathy of prematurity stage 4b | 3 | CL E G H | | | | | | | | | | |