Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
---|
HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | ABCA1 CL E G H | 19 | 29 | ORPHA:425 | Apolipoprotein A-I deficiency | | | | 191 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | ABCA1 CL E G H | 19 | 29 | OMIM:205400 | Tangier disease | . | | | 191 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | ABCG8 CL E G H | 64241 | 13887 | OMIM:210250 | Sitosterolemia 1 | | | | 76 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | AIRE CL E G H | 326 | 360 | ORPHA:3453 | Autoimmune polyendocrinopathy type 1 | HP:0040281 - Very frequent | | | 92 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:219150 | Cutis laxa, autosomal recessive, type IIIA | | | | 89 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | APOA1 CL E G H | 335 | 600 | ORPHA:425 | Apolipoprotein A-I deficiency | | | | 40 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | APOA1 CL E G H | 335 | 600 | OMIM:618463 | HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2 | | | | 40 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | APOA2 CL E G H | 336 | 601 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 9 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | APOB CL E G H | 338 | 603 | OMIM:144010 | Hypercholesterolemia, familial, 2 | | | | 356 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | APOE CL E G H | 348 | 613 | ORPHA:412 | Dysbetalipoproteinemia | | | | 39 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | ASAH1 CL E G H | 427 | 735 | ORPHA:333 | Farber disease | HP:0040284 - Very rare | | | 78 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | B4GAT1 CL E G H | 11041 | 15685 | OMIM:615287 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | . | | | 17 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | CD247 CL E G H | 919 | 1677 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | 8 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | CHRDL1 CL E G H | 91851 | 29861 | OMIM:309300 | MEGALOCORNEA | | | | 9 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | CHST6 CL E G H | 4166 | 6938 | ORPHA:98969 | Macular corneal dystrophy | HP:0040281 - Very frequent | | | 129 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | CHST6 CL E G H | 4166 | 6938 | OMIM:217800 | Macular dystrophy, corneal, 1 | | | | 129 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219750 | Cystinosis, adult nonnephropathic | | | | 178 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219900 | Cystinosis, late-onset juvenile or adolescent Nephropathic type | | | | 178 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | | | | 178 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | CTNS CL E G H | 1497 | 2518 | ORPHA:411629 | Infantile nephropathic cystinosis | | | | 178 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | | | | 178 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | CTNS CL E G H | 1497 | 2518 | ORPHA:411641 | Ocular cystinosis | | | | 178 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | CTSA CL E G H | 5476 | 9251 | OMIM:256540 | Galactosialidosis | . | | | 51 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | CYP1B1 CL E G H | 1545 | 2597 | ORPHA:708 | Peters anomaly | HP:0040281 - Very frequent | | | 101 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | CYP4V2 CL E G H | 285440 | 23198 | ORPHA:41751 | Bietti crystalline dystrophy | | | | 126 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | DDB2 CL E G H | 1643 | 2718 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 30 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | EPHX2 CL E G H | 2053 | 3402 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 1 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | ERCC2 CL E G H | 2068 | 3434 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 106 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | ERCC3 CL E G H | 2071 | 3435 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 54 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | ERCC4 CL E G H | 2072 | 3436 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 158 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | ERCC5 CL E G H | 2073 | 3437 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 83 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | ERCC6 CL E G H | 2074 | 3438 | OMIM:133540 | Cockayne syndrome, type B | . | | | 199 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | ERCC8 CL E G H | 1161 | 3439 | OMIM:216400 | Cockayne syndrome A | . | | | 55 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | ESCO2 CL E G H | 157570 | 27230 | OMIM:268300 | Roberts syndrome | . | | | 92 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | FLG CL E G H | 2312 | 3748 | ORPHA:461 | Recessive X-linked ichthyosis | HP:0040282 - Frequent | | | 63 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | FOXC1 CL E G H | 2296 | 3800 | ORPHA:708 | Peters anomaly | HP:0040281 - Very frequent | | | 63 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | FOXE3 CL E G H | 2301 | 3808 | ORPHA:708 | Peters anomaly | HP:0040281 - Very frequent | | | 23 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | GALNS CL E G H | 2588 | 4122 | OMIM:253000 | Morquio syndrome A | . | | | 123 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | GBA1 CL E G H | 2629 | 4177 | OMIM:231005 | Gaucher disease, type IIIC | . | | | | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | GHR CL E G H | 2690 | 4263 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 98 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:230650 | Gm1-gangliosidosis, type III | . | | | 120 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | GLB1 CL E G H | 2720 | 4298 | OMIM:253010 | Mucopolysaccharidosis type IVB (Morquio) | . | | | 120 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | | | | 101 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252500 | Mucolipidosis II alpha/beta | . | | | 240 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | GNPTAB CL E G H | 79158 | 29670 | OMIM:252600 | Mucolipidosis III alpha/beta | . | | | 240 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | GNPTG CL E G H | 84572 | 23026 | OMIM:252605 | Mucolipidosis III gamma | . | | | 57 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | IDUA CL E G H | 3425 | 5391 | OMIM:607014 | Hurler syndrome | . | | | 115 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | 65 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | | | | 257 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | KERA CL E G H | 11081 | 6309 | OMIM:217300 | Cornea plana 2 | | | | 8 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | KRAS CL E G H | 3845 | 6407 | OMIM:600268 | Oculoectodermal syndrome | HP:0040283 - Occasional | | | 196 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | KRT12 CL E G H | 3859 | 6414 | OMIM:122100 | Meesmann corneal dystrophy 1 | | | | 22 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | LCAT CL E G H | 3931 | 6522 | OMIM:136120 | Fish-Eye disease | . | | | 26 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | LCAT CL E G H | 3931 | 6522 | OMIM:245900 | Lecithin:cholesterol acyltransferase deficiency | . | | | 26 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | LDLR CL E G H | 3949 | 6547 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 2157 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | LIFR CL E G H | 3977 | 6597 | OMIM:601559 | Stuve-Wiedemann syndrome | . | | | 144 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | LIPC CL E G H | 3990 | 6619 | OMIM:614025 | HEPATIC LIPASE DEFICIENCY | | | | 35 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | MBTPS2 CL E G H | 51360 | 15455 | OMIM:308205 | Ifap syndrome with or without bresheck syndrome | . | | | 22 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | MCOLN1 CL E G H | 57192 | 13356 | OMIM:252650 | Mucolipidosis IV | . | | | 78 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | MMP2 CL E G H | 4313 | 7166 | OMIM:259600 | Multicentric osteolysis, nodulosis, and arthropathy | | | | 64 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | NAGA CL E G H | 4668 | 7631 | ORPHA:79280 | Alpha-N-acetylgalactosaminidase deficiency type 2 | HP:0040282 - Frequent | | | 47 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | NDP CL E G H | 4693 | 7678 | OMIM:310600 | Norrie disease | . | | | 39 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | NLRP3 CL E G H | 114548 | 16400 | OMIM:148200 | Keratoendotheliitis fugax hereditaria | . | | | 217 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | NOD2 CL E G H | 64127 | 5331 | OMIM:186580 | Blau syndrome | | | | 187 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | NTRK1 CL E G H | 4914 | 8031 | OMIM:256800 | Insensitivity to pain, congenital, with anhidrosis | . | | | 97 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | OCLN CL E G H | 100506658 | 8104 | OMIM:251290 | Band-Like calcification with simplified gyration and polymicrogyria | HP:0040283 - Occasional | | | 23 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | OVOL2 CL E G H | 58495 | 15804 | OMIM:122000 | Corneal dystrophy, posterior polymorphous, 1 | | | | 4 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:106210 | Aniridia | . | | | 194 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | PAX6 CL E G H | 5080 | 8620 | ORPHA:2334 | Autosomal dominant keratitis | HP:0040282 - Frequent | | | 194 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | PAX6 CL E G H | 5080 | 8620 | OMIM:148190 | Keratitis, hereditary | . | | | 194 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | PAX6 CL E G H | 5080 | 8620 | ORPHA:708 | Peters anomaly | HP:0040281 - Very frequent | | | 194 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | PCSK9 CL E G H | 255738 | 20001 | OMIM:603776 | HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3 | | | | 178 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | PEX1 CL E G H | 5189 | 8850 | OMIM:214100 | Peroxisome biogenesis disorder 1A (Zellweger) | . | | | 169 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | PEX2 CL E G H | 5828 | 9717 | OMIM:614866 | Peroxisome biogenesis disorder 5A (Zellweger) | . | | | 82 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | PEX5 CL E G H | 5830 | 9719 | OMIM:214110 | Peroxisome biogenesis disorder 2A (Zellweger) | . | | | 99 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | PITX2 CL E G H | 5308 | 9005 | ORPHA:708 | Peters anomaly | HP:0040281 - Very frequent | | | 51 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | PITX3 CL E G H | 5309 | 9006 | OMIM:107250 | Anterior segment dysgenesis 1 | . | | | 6 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:253280 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3 | . | | | 180 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | PPP1R17 CL E G H | 10842 | 16973 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 2 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | 3 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | RAB23 CL E G H | 51715 | 14263 | OMIM:201000 | Carpenter syndrome 1 | | | | 31 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | RIPK4 CL E G H | 54101 | 496 | OMIM:263650 | Popliteal pterygium syndrome, Bartsocas-Papas type 1 | | | | 69 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | SC5D CL E G H | 6309 | 10547 | ORPHA:46059 | Lathosterolosis | HP:0040282 - Frequent | | | 80 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | SC5D CL E G H | 6309 | 10547 | OMIM:607330 | LATHOSTEROLOSIS | | | | 80 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | | | | 68 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | SLC4A11 CL E G H | 83959 | 16438 | OMIM:217400 | Corneal endothelial dystrophy and perceptive deafness | . | | | 66 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | SLC4A11 CL E G H | 83959 | 16438 | OMIM:217700 | CORNEAL ENDOTHELIAL DYSTROPHY; CHED | | | | 66 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | SLC4A4 CL E G H | 8671 | 11030 | OMIM:604278 | Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation | | | | 89 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | SMARCAL1 CL E G H | 50485 | 11102 | OMIM:242900 | Immunoosseous dysplasia, Schimke type | . | | | 74 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | SREBF1 CL E G H | 6720 | 11289 | OMIM:158310 | Mucoepithelial dysplasia, hereditary | . | | | 1 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | 2 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | STS CL E G H | 412 | 11425 | ORPHA:461 | Recessive X-linked ichthyosis | HP:0040282 - Frequent | | | 19 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | TGFBI CL E G H | 7045 | 11771 | OMIM:608470 | Corneal dystrophy, Reis-Bucklers type | . | | | 58 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98962 | Granular corneal dystrophy type I | | | | 58 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98963 | Granular corneal dystrophy type II | | | | 58 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | TGFBI CL E G H | 7045 | 11771 | OMIM:121900 | Groenouw type I corneal dystrophy | | | | 58 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98964 | Lattice corneal dystrophy type I | | | | 58 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98960 | Thiel-Behnke corneal dystrophy | HP:0040282 - Frequent | | | 58 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | TRAPPC2 CL E G H | 6399 | 23068 | OMIM:313400 | Spondyloepiphyseal dysplasia tarda, X-linked | . | | | 46 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | TRPV3 CL E G H | 162514 | 18084 | OMIM:614594 | Palmoplantar keratoderma, mutilating, with periorificial keratoticplaques | HP:0040283 - Occasional | | | 151 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | UBIAD1 CL E G H | 29914 | 30791 | OMIM:121800 | Corneal dystrophy, crystalline, of schnyder | | | | 69 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | VSX1 CL E G H | 30813 | 12723 | OMIM:614195 | Craniofacial anomalies and anterior segment dysgenesis syndrome | | | | 47 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | VSX2 CL E G H | 338917 | 1975 | OMIM:610093 | MICROPHTHALMIA, ISOLATED 2; MCOP2 | | | | 66 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | WDR73 CL E G H | 84942 | 25928 | OMIM:251300 | Galloway-mowat syndrome 1 | . | | | 14 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | WT1 CL E G H | 7490 | 12796 | OMIM:106210 | Aniridia | . | | | 177 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | XPA CL E G H | 7507 | 12814 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 34 | | |
HP:0007759 | HP:0007759 | Opacification of the corneal stroma | 0 | XPC CL E G H | 7508 | 12816 | ORPHA:910 | Xeroderma pigmentosum | HP:0040283 - Occasional | | | 86 | | |
HP:0007759 | HP:0008011 | Peripheral opacification of the cornea | 1 | ABCG8 CL E G H | 64241 | 13887 | OMIM:210250 | Sitosterolemia 1 | | | | 76 | | |
HP:0007759 | HP:0008011 | Peripheral opacification of the cornea | 1 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:219150 | Cutis laxa, autosomal recessive, type IIIA | | | | 89 | | |
HP:0007759 | HP:0011493 | Central opacification of the cornea | 1 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | | | |
HP:0007759 | HP:0008011 | Peripheral opacification of the cornea | 1 | APOA1 CL E G H | 335 | 600 | OMIM:618463 | HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2 | | | | 40 | | |
HP:0007759 | HP:0008011 | Peripheral opacification of the cornea | 1 | APOA2 CL E G H | 336 | 601 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 9 | | |
HP:0007759 | HP:0008011 | Peripheral opacification of the cornea | 1 | APOB CL E G H | 338 | 603 | OMIM:144010 | Hypercholesterolemia, familial, 2 | | | | 356 | | |
HP:0007759 | HP:0008011 | Peripheral opacification of the cornea | 1 | APOE CL E G H | 348 | 613 | ORPHA:412 | Dysbetalipoproteinemia | | | | 39 | | |
HP:0007759 | HP:0011493 | Central opacification of the cornea | 1 | CD247 CL E G H | 919 | 1677 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | 8 | | |
HP:0007759 | HP:0008011 | Peripheral opacification of the cornea | 1 | CHRDL1 CL E G H | 91851 | 29861 | OMIM:309300 | MEGALOCORNEA | | | | 9 | | |
HP:0007759 | HP:0000531 | Corneal crystals | 1 | CHST6 CL E G H | 4166 | 6938 | ORPHA:98969 | Macular corneal dystrophy | HP:0040281 - Very frequent | | | 129 | | |
HP:0007759 | HP:0007856 | Punctate opacification of the cornea | 1 | CHST6 CL E G H | 4166 | 6938 | ORPHA:98969 | Macular corneal dystrophy | HP:0040281 - Very frequent | | | 129 | | |
HP:0007759 | HP:0007856 | Punctate opacification of the cornea | 1 | CHST6 CL E G H | 4166 | 6938 | OMIM:217800 | Macular dystrophy, corneal, 1 | . | | | 129 | | |
HP:0007759 | HP:0011493 | Central opacification of the cornea | 1 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | | | | 177 | | |
HP:0007759 | HP:0000531 | Corneal crystals | 1 | CTNS CL E G H | 1497 | 2518 | OMIM:219750 | Cystinosis, adult nonnephropathic | . | | | 178 | | |
HP:0007759 | HP:0000531 | Corneal crystals | 1 | CTNS CL E G H | 1497 | 2518 | OMIM:219900 | Cystinosis, late-onset juvenile or adolescent Nephropathic type | . | | | 178 | | |
HP:0007759 | HP:0000531 | Corneal crystals | 1 | CTNS CL E G H | 1497 | 2518 | OMIM:219800 | Cystinosis, nephropathic | . | | | 178 | | |
HP:0007759 | HP:0000531 | Corneal crystals | 1 | CTNS CL E G H | 1497 | 2518 | ORPHA:411629 | Infantile nephropathic cystinosis | HP:0040281 - Very frequent | | | 178 | | |
HP:0007759 | HP:0000531 | Corneal crystals | 1 | CTNS CL E G H | 1497 | 2518 | ORPHA:411634 | Juvenile nephropathic cystinosis | HP:0040282 - Frequent | | | 178 | | |
HP:0007759 | HP:0000531 | Corneal crystals | 1 | CTNS CL E G H | 1497 | 2518 | ORPHA:411641 | Ocular cystinosis | HP:0040281 - Very frequent | | | 178 | | |
HP:0007759 | HP:0011493 | Central opacification of the cornea | 1 | CYP1B1 CL E G H | 1545 | 2597 | ORPHA:708 | Peters anomaly | HP:0040281 - Very frequent | | | 101 | | |
HP:0007759 | HP:0007856 | Punctate opacification of the cornea | 1 | CYP4V2 CL E G H | 285440 | 23198 | ORPHA:41751 | Bietti crystalline dystrophy | | | | 126 | | |
HP:0007759 | HP:0008011 | Peripheral opacification of the cornea | 1 | EPHX2 CL E G H | 2053 | 3402 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 1 | | |
HP:0007759 | HP:0011493 | Central opacification of the cornea | 1 | FOXC1 CL E G H | 2296 | 3800 | ORPHA:708 | Peters anomaly | HP:0040281 - Very frequent | | | 63 | | |
HP:0007759 | HP:0011493 | Central opacification of the cornea | 1 | FOXE3 CL E G H | 2301 | 3808 | ORPHA:708 | Peters anomaly | HP:0040281 - Very frequent | | | 23 | | |
HP:0007759 | HP:0008011 | Peripheral opacification of the cornea | 1 | GHR CL E G H | 2690 | 4263 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 98 | | |
HP:0007759 | HP:0011493 | Central opacification of the cornea | 1 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | | | | 101 | | |
HP:0007759 | HP:0011493 | Central opacification of the cornea | 1 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | 65 | | |
HP:0007759 | HP:0011493 | Central opacification of the cornea | 1 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | | | |
HP:0007759 | HP:0011493 | Central opacification of the cornea | 1 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | | | | 257 | | |
HP:0007759 | HP:0008011 | Peripheral opacification of the cornea | 1 | KERA CL E G H | 11081 | 6309 | OMIM:217300 | Cornea plana 2 | | | | 8 | | |
HP:0007759 | HP:0007856 | Punctate opacification of the cornea | 1 | KRT12 CL E G H | 3859 | 6414 | OMIM:122100 | Meesmann corneal dystrophy 1 | . | | | 22 | | |
HP:0007759 | HP:0008011 | Peripheral opacification of the cornea | 1 | LDLR CL E G H | 3949 | 6547 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 2157 | | |
HP:0007759 | HP:0008011 | Peripheral opacification of the cornea | 1 | LIPC CL E G H | 3990 | 6619 | OMIM:614025 | HEPATIC LIPASE DEFICIENCY | | | | 35 | | |
HP:0007759 | HP:0008011 | Peripheral opacification of the cornea | 1 | MMP2 CL E G H | 4313 | 7166 | OMIM:259600 | Multicentric osteolysis, nodulosis, and arthropathy | . | | | 64 | | |
HP:0007759 | HP:0011493 | Central opacification of the cornea | 1 | NOD2 CL E G H | 64127 | 5331 | OMIM:186580 | Blau syndrome | | | | 187 | | |
HP:0007759 | HP:0011493 | Central opacification of the cornea | 1 | OVOL2 CL E G H | 58495 | 15804 | OMIM:122000 | Corneal dystrophy, posterior polymorphous, 1 | | | | 4 | | |
HP:0007759 | HP:0011493 | Central opacification of the cornea | 1 | PAX6 CL E G H | 5080 | 8620 | ORPHA:708 | Peters anomaly | HP:0040281 - Very frequent | | | 194 | | |
HP:0007759 | HP:0008011 | Peripheral opacification of the cornea | 1 | PCSK9 CL E G H | 255738 | 20001 | OMIM:603776 | HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3 | | | | 178 | | |
HP:0007759 | HP:0011493 | Central opacification of the cornea | 1 | PITX2 CL E G H | 5308 | 9005 | ORPHA:708 | Peters anomaly | HP:0040281 - Very frequent | | | 51 | | |
HP:0007759 | HP:0008011 | Peripheral opacification of the cornea | 1 | PPP1R17 CL E G H | 10842 | 16973 | OMIM:143890 | Hypercholesterolemia, familial, 1 | | | | 2 | | |
HP:0007759 | HP:0007856 | Punctate opacification of the cornea | 1 | PSMB8 CL E G H | 5696 | 9545 | OMIM:256040 | Proteasome-associated autoinflammatory syndrome 1 and digenic forms | | | | 20 | | |
HP:0007759 | HP:0011493 | Central opacification of the cornea | 1 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | | | |
HP:0007759 | HP:0011493 | Central opacification of the cornea | 1 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | 3 | | |
HP:0007759 | HP:0008011 | Peripheral opacification of the cornea | 1 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | | | | 68 | | |
HP:0007759 | HP:0008011 | Peripheral opacification of the cornea | 1 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0007759 | HP:0011493 | Central opacification of the cornea | 1 | SLC4A4 CL E G H | 8671 | 11030 | OMIM:604278 | Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation | | | | 89 | | |
HP:0007759 | HP:0011493 | Central opacification of the cornea | 1 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | | | | 2 | | |
HP:0007759 | HP:0000531 | Corneal crystals | 1 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98962 | Granular corneal dystrophy type I | | | | 58 | | |
HP:0007759 | HP:0011493 | Central opacification of the cornea | 1 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98962 | Granular corneal dystrophy type I | | | | 58 | | |
HP:0007759 | HP:0000531 | Corneal crystals | 1 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98963 | Granular corneal dystrophy type II | | | | 58 | | |
HP:0007759 | HP:0011493 | Central opacification of the cornea | 1 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98963 | Granular corneal dystrophy type II | | | | 58 | | |
HP:0007759 | HP:0011494 | Generalized opacification of the cornea | 1 | TGFBI CL E G H | 7045 | 11771 | OMIM:121900 | Groenouw type I corneal dystrophy | | | | 58 | | |
HP:0007759 | HP:0011493 | Central opacification of the cornea | 1 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98964 | Lattice corneal dystrophy type I | HP:0040281 - Very frequent | | | 58 | | |
HP:0007759 | HP:0011493 | Central opacification of the cornea | 1 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98960 | Thiel-Behnke corneal dystrophy | | | | 58 | | |
HP:0007759 | HP:0007856 | Punctate opacification of the cornea | 1 | UBIAD1 CL E G H | 29914 | 30791 | OMIM:121800 | Corneal dystrophy, crystalline, of schnyder | | | | 69 | | |
HP:0007759 | HP:0011493 | Central opacification of the cornea | 1 | VSX1 CL E G H | 30813 | 12723 | OMIM:614195 | Craniofacial anomalies and anterior segment dysgenesis syndrome | | | | 47 | | |
HP:0007759 | HP:0001084 | Corneal arcus | 2 | ABCG8 CL E G H | 64241 | 13887 | OMIM:210250 | Sitosterolemia 1 | | | | 76 | | |
HP:0007759 | HP:0001084 | Corneal arcus | 2 | ALDH18A1 CL E G H | 5832 | 9722 | OMIM:219150 | Cutis laxa, autosomal recessive, type IIIA | . | | | 89 | | |
HP:0007759 | HP:0000585 | Band keratopathy | 2 | ANKRD55 CL E G H | 79722 | 25681 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0007759 | HP:0001084 | Corneal arcus | 2 | APOA1 CL E G H | 335 | 600 | OMIM:618463 | HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2 | | | | 40 | | |
HP:0007759 | HP:0001084 | Corneal arcus | 2 | APOA2 CL E G H | 336 | 601 | OMIM:143890 | Hypercholesterolemia, familial, 1 | . | | | 9 | | |
HP:0007759 | HP:0001084 | Corneal arcus | 2 | APOB CL E G H | 338 | 603 | OMIM:144010 | Hypercholesterolemia, familial, 2 | . | | | 356 | | |
HP:0007759 | HP:0001084 | Corneal arcus | 2 | APOE CL E G H | 348 | 613 | ORPHA:412 | Dysbetalipoproteinemia | HP:0040282 - Frequent | | | 39 | | |
HP:0007759 | HP:0000585 | Band keratopathy | 2 | CD247 CL E G H | 919 | 1677 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 8 | | |
HP:0007759 | HP:0001084 | Corneal arcus | 2 | CHRDL1 CL E G H | 91851 | 29861 | OMIM:309300 | MEGALOCORNEA | | | | 9 | | |
HP:0007759 | HP:0000585 | Band keratopathy | 2 | COL18A1 CL E G H | 80781 | 2195 | OMIM:267750 | Knobloch syndrome 1 | . | | | 177 | | |
HP:0007759 | HP:0007760 | Crystalline corneal dystrophy | 2 | CYP4V2 CL E G H | 285440 | 23198 | ORPHA:41751 | Bietti crystalline dystrophy | HP:0040282 - Frequent | | | 126 | | |
HP:0007759 | HP:0001084 | Corneal arcus | 2 | EPHX2 CL E G H | 2053 | 3402 | OMIM:143890 | Hypercholesterolemia, familial, 1 | . | | | 1 | | |
HP:0007759 | HP:0001084 | Corneal arcus | 2 | GHR CL E G H | 2690 | 4263 | OMIM:143890 | Hypercholesterolemia, familial, 1 | . | | | 98 | | |
HP:0007759 | HP:0000585 | Band keratopathy | 2 | GNAS CL E G H | 2778 | 4392 | ORPHA:79443 | Pseudohypoparathyroidism type 1A | HP:0040283 - Occasional | | | 101 | | |
HP:0007759 | HP:0000585 | Band keratopathy | 2 | IL2RA CL E G H | 3559 | 6008 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 65 | | |
HP:0007759 | HP:0000585 | Band keratopathy | 2 | IL2RB CL E G H | 3560 | 6009 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0007759 | HP:0000585 | Band keratopathy | 2 | JAG1 CL E G H | 182 | 6188 | OMIM:118450 | Alagille syndrome 1 | . | | | 257 | | |
HP:0007759 | HP:0001084 | Corneal arcus | 2 | KERA CL E G H | 11081 | 6309 | OMIM:217300 | Cornea plana 2 | . | | | 8 | | |
HP:0007759 | HP:0001084 | Corneal arcus | 2 | LDLR CL E G H | 3949 | 6547 | OMIM:143890 | Hypercholesterolemia, familial, 1 | . | | | 2157 | | |
HP:0007759 | HP:0001084 | Corneal arcus | 2 | LIPC CL E G H | 3990 | 6619 | OMIM:614025 | HEPATIC LIPASE DEFICIENCY | | | | 35 | | |
HP:0007759 | HP:0000585 | Band keratopathy | 2 | NOD2 CL E G H | 64127 | 5331 | OMIM:186580 | Blau syndrome | . | | | 187 | | |
HP:0007759 | HP:0000585 | Band keratopathy | 2 | OVOL2 CL E G H | 58495 | 15804 | OMIM:122000 | Corneal dystrophy, posterior polymorphous, 1 | | | | 4 | | |
HP:0007759 | HP:0001084 | Corneal arcus | 2 | PCSK9 CL E G H | 255738 | 20001 | OMIM:603776 | HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3 | | | | 178 | | |
HP:0007759 | HP:0001084 | Corneal arcus | 2 | PPP1R17 CL E G H | 10842 | 16973 | OMIM:143890 | Hypercholesterolemia, familial, 1 | . | | | 2 | | |
HP:0007759 | HP:0000585 | Band keratopathy | 2 | PTPN2 CL E G H | 5771 | 9650 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | | | |
HP:0007759 | HP:0000585 | Band keratopathy | 2 | PTPN22 CL E G H | 26191 | 9652 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 3 | | |
HP:0007759 | HP:0001084 | Corneal arcus | 2 | SLC29A3 CL E G H | 55315 | 23096 | ORPHA:168569 | H syndrome | HP:0040283 - Occasional | | | 68 | | |
HP:0007759 | HP:0001084 | Corneal arcus | 2 | SLC29A3 CL E G H | 55315 | 23096 | OMIM:602782 | Histiocytosis-lymphadenopathy plus syndrome | | | | 68 | | |
HP:0007759 | HP:0000585 | Band keratopathy | 2 | SLC4A4 CL E G H | 8671 | 11030 | OMIM:604278 | Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation | . | | | 89 | | |
HP:0007759 | HP:0000585 | Band keratopathy | 2 | STAT4 CL E G H | 6775 | 11365 | ORPHA:85410 | Oligoarticular juvenile idiopathic arthritis | HP:0040283 - Occasional | | | 2 | | |
HP:0007759 | HP:0007881 | Central corneal dystrophy | 2 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98962 | Granular corneal dystrophy type I | | | | 58 | | |
HP:0007759 | HP:0007827 | Nodular corneal dystrophy | 2 | TGFBI CL E G H | 7045 | 11771 | OMIM:121900 | Groenouw type I corneal dystrophy | . | | | 58 | | |
HP:0007759 | HP:0008511 | Central posterior corneal opacity | 2 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98964 | Lattice corneal dystrophy type I | HP:0040283 - Occasional | | | 58 | | |
HP:0007759 | HP:0007881 | Central corneal dystrophy | 2 | TGFBI CL E G H | 7045 | 11771 | ORPHA:98960 | Thiel-Behnke corneal dystrophy | HP:0040281 - Very frequent | | | 58 | | |
HP:0007759 | HP:0007760 | Crystalline corneal dystrophy | 2 | UBIAD1 CL E G H | 29914 | 30791 | OMIM:121800 | Corneal dystrophy, crystalline, of schnyder | . | | | 69 | | |
HP:0007759 | HP:0000585 | Band keratopathy | 2 | VSX1 CL E G H | 30813 | 12723 | OMIM:614195 | Craniofacial anomalies and anterior segment dysgenesis syndrome | | | | 47 | | |
HP:0007759 | HP:0100690 | Mosaic central corneal dystrophy | 3 | CL E G H | | | | | | | | | | |
HP:0007759 | HP:0032935 | Posterior crocodile shagreen of the cornea | 3 | CL E G H | | | | | | | | | | |