Human Phenotype Ontology 
Grandparent Node:
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Abnormal cornea morphology (HP:0000481)help
Parent Node:
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Abnormal corneal stroma morphology (HP:0011492)help
Parent Node:
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Corneal opacity (HP:0007957)help
..Starting node
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Opacification of the corneal stroma (HP:0007759)help
Term ID: 7759
Name: Opacification of the corneal stroma
Synonym: Cloudy cornea; Cloudy corneas; Corneal stromal opacity
Definition: Reduced transparency of the stroma of cornea.
Comments:
Reference: HP:0007759
Genes and Diseases:
 
       Child Nodes:
........expandCorneal crystals (HP:0000531) help
........expandPunctate opacification of the cornea (HP:0007856) help
................... HP:0007760 Crystalline corneal dystrophy
........expandPeripheral opacification of the cornea (HP:0008011) help
................... HP:0001084 Corneal arcus
........expandCentral opacification of the cornea (HP:0011493) help
................... HP:0000585 Band keratopathy
................... HP:0007881 Central corneal dystrophy
................... HP:0008511 Central posterior corneal opacity
........expandGeneralized opacification of the cornea (HP:0011494) help
................... HP:0007827 Nodular corneal dystrophy

 Sister Nodes: 
..expandCorneal scarring (HP:0000559) help
..expandKayser-Fleischer ring (HP:0200032) help
..expandOpacification of the corneal epithelium (HP:0007727) help
..expandSclerocornea (HP:0000647) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0007759HP:0007759Opacification of the corneal stroma0ABCA1 CL E G H1929ORPHA:425Apolipoprotein A-I deficiency191
HP:0007759HP:0007759Opacification of the corneal stroma0ABCA1 CL E G H1929OMIM:205400Tangier disease.191
HP:0007759HP:0007759Opacification of the corneal stroma0ABCG8 CL E G H6424113887OMIM:210250Sitosterolemia 176
HP:0007759HP:0007759Opacification of the corneal stroma0AIRE CL E G H326360ORPHA:3453Autoimmune polyendocrinopathy type 1HP:0040281 - Very frequent92
HP:0007759HP:0007759Opacification of the corneal stroma0ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA89
HP:0007759HP:0007759Opacification of the corneal stroma0ANKRD55 CL E G H7972225681ORPHA:85410Oligoarticular juvenile idiopathic arthritis
HP:0007759HP:0007759Opacification of the corneal stroma0APOA1 CL E G H335600ORPHA:425Apolipoprotein A-I deficiency40
HP:0007759HP:0007759Opacification of the corneal stroma0APOA1 CL E G H335600OMIM:618463HYPOALPHALIPOPROTEINEMIA, PRIMARY, 240
HP:0007759HP:0007759Opacification of the corneal stroma0APOA2 CL E G H336601OMIM:143890Hypercholesterolemia, familial, 19
HP:0007759HP:0007759Opacification of the corneal stroma0APOB CL E G H338603OMIM:144010Hypercholesterolemia, familial, 2356
HP:0007759HP:0007759Opacification of the corneal stroma0APOE CL E G H348613ORPHA:412Dysbetalipoproteinemia39
HP:0007759HP:0007759Opacification of the corneal stroma0ASAH1 CL E G H427735ORPHA:333Farber diseaseHP:0040284 - Very rare78
HP:0007759HP:0007759Opacification of the corneal stroma0B4GAT1 CL E G H1104115685OMIM:615287MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13.17
HP:0007759HP:0007759Opacification of the corneal stroma0CD247 CL E G H9191677ORPHA:85410Oligoarticular juvenile idiopathic arthritis8
HP:0007759HP:0007759Opacification of the corneal stroma0CHRDL1 CL E G H9185129861OMIM:309300MEGALOCORNEA9
HP:0007759HP:0007759Opacification of the corneal stroma0CHST6 CL E G H41666938ORPHA:98969Macular corneal dystrophyHP:0040281 - Very frequent129
HP:0007759HP:0007759Opacification of the corneal stroma0CHST6 CL E G H41666938OMIM:217800Macular dystrophy, corneal, 1129
HP:0007759HP:0007759Opacification of the corneal stroma0COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0007759HP:0007759Opacification of the corneal stroma0CTNS CL E G H14972518OMIM:219750Cystinosis, adult nonnephropathic178
HP:0007759HP:0007759Opacification of the corneal stroma0CTNS CL E G H14972518OMIM:219900Cystinosis, late-onset juvenile or adolescent Nephropathic type178
HP:0007759HP:0007759Opacification of the corneal stroma0CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic178
HP:0007759HP:0007759Opacification of the corneal stroma0CTNS CL E G H14972518ORPHA:411629Infantile nephropathic cystinosis178
HP:0007759HP:0007759Opacification of the corneal stroma0CTNS CL E G H14972518ORPHA:411634Juvenile nephropathic cystinosis178
HP:0007759HP:0007759Opacification of the corneal stroma0CTNS CL E G H14972518ORPHA:411641Ocular cystinosis178
HP:0007759HP:0007759Opacification of the corneal stroma0CTSA CL E G H54769251OMIM:256540Galactosialidosis.51
HP:0007759HP:0007759Opacification of the corneal stroma0CYP1B1 CL E G H15452597ORPHA:708Peters anomalyHP:0040281 - Very frequent101
HP:0007759HP:0007759Opacification of the corneal stroma0CYP4V2 CL E G H28544023198ORPHA:41751Bietti crystalline dystrophy126
HP:0007759HP:0007759Opacification of the corneal stroma0DDB2 CL E G H16432718ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional30
HP:0007759HP:0007759Opacification of the corneal stroma0EPHX2 CL E G H20533402OMIM:143890Hypercholesterolemia, familial, 11
HP:0007759HP:0007759Opacification of the corneal stroma0ERCC2 CL E G H20683434ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional106
HP:0007759HP:0007759Opacification of the corneal stroma0ERCC3 CL E G H20713435ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional54
HP:0007759HP:0007759Opacification of the corneal stroma0ERCC4 CL E G H20723436ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional158
HP:0007759HP:0007759Opacification of the corneal stroma0ERCC5 CL E G H20733437ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional83
HP:0007759HP:0007759Opacification of the corneal stroma0ERCC6 CL E G H20743438OMIM:133540Cockayne syndrome, type B.199
HP:0007759HP:0007759Opacification of the corneal stroma0ERCC8 CL E G H11613439OMIM:216400Cockayne syndrome A.55
HP:0007759HP:0007759Opacification of the corneal stroma0ESCO2 CL E G H15757027230OMIM:268300Roberts syndrome.92
HP:0007759HP:0007759Opacification of the corneal stroma0FLG CL E G H23123748ORPHA:461Recessive X-linked ichthyosisHP:0040282 - Frequent63
HP:0007759HP:0007759Opacification of the corneal stroma0FOXC1 CL E G H22963800ORPHA:708Peters anomalyHP:0040281 - Very frequent63
HP:0007759HP:0007759Opacification of the corneal stroma0FOXE3 CL E G H23013808ORPHA:708Peters anomalyHP:0040281 - Very frequent23
HP:0007759HP:0007759Opacification of the corneal stroma0GALNS CL E G H25884122OMIM:253000Morquio syndrome A.123
HP:0007759HP:0007759Opacification of the corneal stroma0GBA1 CL E G H26294177OMIM:231005Gaucher disease, type IIIC.
HP:0007759HP:0007759Opacification of the corneal stroma0GHR CL E G H26904263OMIM:143890Hypercholesterolemia, familial, 198
HP:0007759HP:0007759Opacification of the corneal stroma0GLB1 CL E G H27204298OMIM:230650Gm1-gangliosidosis, type III.120
HP:0007759HP:0007759Opacification of the corneal stroma0GLB1 CL E G H27204298OMIM:253010Mucopolysaccharidosis type IVB (Morquio).120
HP:0007759HP:0007759Opacification of the corneal stroma0GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0007759HP:0007759Opacification of the corneal stroma0GNPTAB CL E G H7915829670OMIM:252500Mucolipidosis II alpha/beta.240
HP:0007759HP:0007759Opacification of the corneal stroma0GNPTAB CL E G H7915829670OMIM:252600Mucolipidosis III alpha/beta.240
HP:0007759HP:0007759Opacification of the corneal stroma0GNPTG CL E G H8457223026OMIM:252605Mucolipidosis III gamma.57
HP:0007759HP:0007759Opacification of the corneal stroma0IDUA CL E G H34255391OMIM:607014Hurler syndrome.115
HP:0007759HP:0007759Opacification of the corneal stroma0IL2RA CL E G H35596008ORPHA:85410Oligoarticular juvenile idiopathic arthritis65
HP:0007759HP:0007759Opacification of the corneal stroma0IL2RB CL E G H35606009ORPHA:85410Oligoarticular juvenile idiopathic arthritis
HP:0007759HP:0007759Opacification of the corneal stroma0JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1257
HP:0007759HP:0007759Opacification of the corneal stroma0KERA CL E G H110816309OMIM:217300Cornea plana 28
HP:0007759HP:0007759Opacification of the corneal stroma0KRAS CL E G H38456407OMIM:600268Oculoectodermal syndromeHP:0040283 - Occasional196
HP:0007759HP:0007759Opacification of the corneal stroma0KRT12 CL E G H38596414OMIM:122100Meesmann corneal dystrophy 122
HP:0007759HP:0007759Opacification of the corneal stroma0LCAT CL E G H39316522OMIM:136120Fish-Eye disease.26
HP:0007759HP:0007759Opacification of the corneal stroma0LCAT CL E G H39316522OMIM:245900Lecithin:cholesterol acyltransferase deficiency.26
HP:0007759HP:0007759Opacification of the corneal stroma0LDLR CL E G H39496547OMIM:143890Hypercholesterolemia, familial, 12157
HP:0007759HP:0007759Opacification of the corneal stroma0LIFR CL E G H39776597OMIM:601559Stuve-Wiedemann syndrome.144
HP:0007759HP:0007759Opacification of the corneal stroma0LIPC CL E G H39906619OMIM:614025HEPATIC LIPASE DEFICIENCY35
HP:0007759HP:0007759Opacification of the corneal stroma0MBTPS2 CL E G H5136015455OMIM:308205Ifap syndrome with or without bresheck syndrome.22
HP:0007759HP:0007759Opacification of the corneal stroma0MCOLN1 CL E G H5719213356OMIM:252650Mucolipidosis IV.78
HP:0007759HP:0007759Opacification of the corneal stroma0MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy64
HP:0007759HP:0007759Opacification of the corneal stroma0NAGA CL E G H46687631ORPHA:79280Alpha-N-acetylgalactosaminidase deficiency type 2HP:0040282 - Frequent47
HP:0007759HP:0007759Opacification of the corneal stroma0NDP CL E G H46937678OMIM:310600Norrie disease.39
HP:0007759HP:0007759Opacification of the corneal stroma0NLRP3 CL E G H11454816400OMIM:148200Keratoendotheliitis fugax hereditaria.217
HP:0007759HP:0007759Opacification of the corneal stroma0NOD2 CL E G H641275331OMIM:186580Blau syndrome187
HP:0007759HP:0007759Opacification of the corneal stroma0NTRK1 CL E G H49148031OMIM:256800Insensitivity to pain, congenital, with anhidrosis.97
HP:0007759HP:0007759Opacification of the corneal stroma0OCLN CL E G H1005066588104OMIM:251290Band-Like calcification with simplified gyration and polymicrogyriaHP:0040283 - Occasional23
HP:0007759HP:0007759Opacification of the corneal stroma0OVOL2 CL E G H5849515804OMIM:122000Corneal dystrophy, posterior polymorphous, 14
HP:0007759HP:0007759Opacification of the corneal stroma0PAX6 CL E G H50808620OMIM:106210Aniridia.194
HP:0007759HP:0007759Opacification of the corneal stroma0PAX6 CL E G H50808620ORPHA:2334Autosomal dominant keratitisHP:0040282 - Frequent194
HP:0007759HP:0007759Opacification of the corneal stroma0PAX6 CL E G H50808620OMIM:148190Keratitis, hereditary.194
HP:0007759HP:0007759Opacification of the corneal stroma0PAX6 CL E G H50808620ORPHA:708Peters anomalyHP:0040281 - Very frequent194
HP:0007759HP:0007759Opacification of the corneal stroma0PCSK9 CL E G H25573820001OMIM:603776HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3178
HP:0007759HP:0007759Opacification of the corneal stroma0PEX1 CL E G H51898850OMIM:214100Peroxisome biogenesis disorder 1A (Zellweger).169
HP:0007759HP:0007759Opacification of the corneal stroma0PEX2 CL E G H58289717OMIM:614866Peroxisome biogenesis disorder 5A (Zellweger).82
HP:0007759HP:0007759Opacification of the corneal stroma0PEX5 CL E G H58309719OMIM:214110Peroxisome biogenesis disorder 2A (Zellweger).99
HP:0007759HP:0007759Opacification of the corneal stroma0PITX2 CL E G H53089005ORPHA:708Peters anomalyHP:0040281 - Very frequent51
HP:0007759HP:0007759Opacification of the corneal stroma0PITX3 CL E G H53099006OMIM:107250Anterior segment dysgenesis 1.6
HP:0007759HP:0007759Opacification of the corneal stroma0POMGNT1 CL E G H5562419139OMIM:253280Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3.180
HP:0007759HP:0007759Opacification of the corneal stroma0PPP1R17 CL E G H1084216973OMIM:143890Hypercholesterolemia, familial, 12
HP:0007759HP:0007759Opacification of the corneal stroma0PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0007759HP:0007759Opacification of the corneal stroma0PTPN2 CL E G H57719650ORPHA:85410Oligoarticular juvenile idiopathic arthritis
HP:0007759HP:0007759Opacification of the corneal stroma0PTPN22 CL E G H261919652ORPHA:85410Oligoarticular juvenile idiopathic arthritis3
HP:0007759HP:0007759Opacification of the corneal stroma0RAB23 CL E G H5171514263OMIM:201000Carpenter syndrome 131
HP:0007759HP:0007759Opacification of the corneal stroma0RIPK4 CL E G H54101496OMIM:263650Popliteal pterygium syndrome, Bartsocas-Papas type 169
HP:0007759HP:0007759Opacification of the corneal stroma0SC5D CL E G H630910547ORPHA:46059LathosterolosisHP:0040282 - Frequent80
HP:0007759HP:0007759Opacification of the corneal stroma0SC5D CL E G H630910547OMIM:607330LATHOSTEROLOSIS80
HP:0007759HP:0007759Opacification of the corneal stroma0SLC29A3 CL E G H5531523096ORPHA:168569H syndrome68
HP:0007759HP:0007759Opacification of the corneal stroma0SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0007759HP:0007759Opacification of the corneal stroma0SLC4A11 CL E G H8395916438OMIM:217400Corneal endothelial dystrophy and perceptive deafness.66
HP:0007759HP:0007759Opacification of the corneal stroma0SLC4A11 CL E G H8395916438OMIM:217700CORNEAL ENDOTHELIAL DYSTROPHY; CHED66
HP:0007759HP:0007759Opacification of the corneal stroma0SLC4A4 CL E G H867111030OMIM:604278Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation89
HP:0007759HP:0007759Opacification of the corneal stroma0SMARCAL1 CL E G H5048511102OMIM:242900Immunoosseous dysplasia, Schimke type.74
HP:0007759HP:0007759Opacification of the corneal stroma0SREBF1 CL E G H672011289OMIM:158310Mucoepithelial dysplasia, hereditary.1
HP:0007759HP:0007759Opacification of the corneal stroma0STAT4 CL E G H677511365ORPHA:85410Oligoarticular juvenile idiopathic arthritis2
HP:0007759HP:0007759Opacification of the corneal stroma0STS CL E G H41211425ORPHA:461Recessive X-linked ichthyosisHP:0040282 - Frequent19
HP:0007759HP:0007759Opacification of the corneal stroma0TGFBI CL E G H704511771OMIM:608470Corneal dystrophy, Reis-Bucklers type.58
HP:0007759HP:0007759Opacification of the corneal stroma0TGFBI CL E G H704511771ORPHA:98962Granular corneal dystrophy type I58
HP:0007759HP:0007759Opacification of the corneal stroma0TGFBI CL E G H704511771ORPHA:98963Granular corneal dystrophy type II58
HP:0007759HP:0007759Opacification of the corneal stroma0TGFBI CL E G H704511771OMIM:121900Groenouw type I corneal dystrophy58
HP:0007759HP:0007759Opacification of the corneal stroma0TGFBI CL E G H704511771ORPHA:98964Lattice corneal dystrophy type I58
HP:0007759HP:0007759Opacification of the corneal stroma0TGFBI CL E G H704511771ORPHA:98960Thiel-Behnke corneal dystrophyHP:0040282 - Frequent58
HP:0007759HP:0007759Opacification of the corneal stroma0TRAPPC2 CL E G H639923068OMIM:313400Spondyloepiphyseal dysplasia tarda, X-linked.46
HP:0007759HP:0007759Opacification of the corneal stroma0TRPV3 CL E G H16251418084OMIM:614594Palmoplantar keratoderma, mutilating, with periorificial keratoticplaquesHP:0040283 - Occasional151
HP:0007759HP:0007759Opacification of the corneal stroma0UBIAD1 CL E G H2991430791OMIM:121800Corneal dystrophy, crystalline, of schnyder69
HP:0007759HP:0007759Opacification of the corneal stroma0VSX1 CL E G H3081312723OMIM:614195Craniofacial anomalies and anterior segment dysgenesis syndrome47
HP:0007759HP:0007759Opacification of the corneal stroma0VSX2 CL E G H3389171975OMIM:610093MICROPHTHALMIA, ISOLATED 2; MCOP266
HP:0007759HP:0007759Opacification of the corneal stroma0WDR73 CL E G H8494225928OMIM:251300Galloway-mowat syndrome 1.14
HP:0007759HP:0007759Opacification of the corneal stroma0WT1 CL E G H749012796OMIM:106210Aniridia.177
HP:0007759HP:0007759Opacification of the corneal stroma0XPA CL E G H750712814ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional34
HP:0007759HP:0007759Opacification of the corneal stroma0XPC CL E G H750812816ORPHA:910Xeroderma pigmentosumHP:0040283 - Occasional86
HP:0007759HP:0008011Peripheral opacification of the cornea1ABCG8 CL E G H6424113887OMIM:210250Sitosterolemia 176
HP:0007759HP:0008011Peripheral opacification of the cornea1ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA89
HP:0007759HP:0011493Central opacification of the cornea1ANKRD55 CL E G H7972225681ORPHA:85410Oligoarticular juvenile idiopathic arthritis
HP:0007759HP:0008011Peripheral opacification of the cornea1APOA1 CL E G H335600OMIM:618463HYPOALPHALIPOPROTEINEMIA, PRIMARY, 240
HP:0007759HP:0008011Peripheral opacification of the cornea1APOA2 CL E G H336601OMIM:143890Hypercholesterolemia, familial, 19
HP:0007759HP:0008011Peripheral opacification of the cornea1APOB CL E G H338603OMIM:144010Hypercholesterolemia, familial, 2356
HP:0007759HP:0008011Peripheral opacification of the cornea1APOE CL E G H348613ORPHA:412Dysbetalipoproteinemia39
HP:0007759HP:0011493Central opacification of the cornea1CD247 CL E G H9191677ORPHA:85410Oligoarticular juvenile idiopathic arthritis8
HP:0007759HP:0008011Peripheral opacification of the cornea1CHRDL1 CL E G H9185129861OMIM:309300MEGALOCORNEA9
HP:0007759HP:0007856Punctate opacification of the cornea1CHST6 CL E G H41666938ORPHA:98969Macular corneal dystrophyHP:0040281 - Very frequent129
HP:0007759HP:0000531Corneal crystals1CHST6 CL E G H41666938ORPHA:98969Macular corneal dystrophyHP:0040281 - Very frequent129
HP:0007759HP:0007856Punctate opacification of the cornea1CHST6 CL E G H41666938OMIM:217800Macular dystrophy, corneal, 1.129
HP:0007759HP:0011493Central opacification of the cornea1COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1177
HP:0007759HP:0000531Corneal crystals1CTNS CL E G H14972518OMIM:219750Cystinosis, adult nonnephropathic.178
HP:0007759HP:0000531Corneal crystals1CTNS CL E G H14972518OMIM:219900Cystinosis, late-onset juvenile or adolescent Nephropathic type.178
HP:0007759HP:0000531Corneal crystals1CTNS CL E G H14972518OMIM:219800Cystinosis, nephropathic.178
HP:0007759HP:0000531Corneal crystals1CTNS CL E G H14972518ORPHA:411629Infantile nephropathic cystinosisHP:0040281 - Very frequent178
HP:0007759HP:0000531Corneal crystals1CTNS CL E G H14972518ORPHA:411634Juvenile nephropathic cystinosisHP:0040282 - Frequent178
HP:0007759HP:0000531Corneal crystals1CTNS CL E G H14972518ORPHA:411641Ocular cystinosisHP:0040281 - Very frequent178
HP:0007759HP:0011493Central opacification of the cornea1CYP1B1 CL E G H15452597ORPHA:708Peters anomalyHP:0040281 - Very frequent101
HP:0007759HP:0007856Punctate opacification of the cornea1CYP4V2 CL E G H28544023198ORPHA:41751Bietti crystalline dystrophy126
HP:0007759HP:0008011Peripheral opacification of the cornea1EPHX2 CL E G H20533402OMIM:143890Hypercholesterolemia, familial, 11
HP:0007759HP:0011493Central opacification of the cornea1FOXC1 CL E G H22963800ORPHA:708Peters anomalyHP:0040281 - Very frequent63
HP:0007759HP:0011493Central opacification of the cornea1FOXE3 CL E G H23013808ORPHA:708Peters anomalyHP:0040281 - Very frequent23
HP:0007759HP:0008011Peripheral opacification of the cornea1GHR CL E G H26904263OMIM:143890Hypercholesterolemia, familial, 198
HP:0007759HP:0011493Central opacification of the cornea1GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1A101
HP:0007759HP:0011493Central opacification of the cornea1IL2RA CL E G H35596008ORPHA:85410Oligoarticular juvenile idiopathic arthritis65
HP:0007759HP:0011493Central opacification of the cornea1IL2RB CL E G H35606009ORPHA:85410Oligoarticular juvenile idiopathic arthritis
HP:0007759HP:0011493Central opacification of the cornea1JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1257
HP:0007759HP:0008011Peripheral opacification of the cornea1KERA CL E G H110816309OMIM:217300Cornea plana 28
HP:0007759HP:0007856Punctate opacification of the cornea1KRT12 CL E G H38596414OMIM:122100Meesmann corneal dystrophy 1.22
HP:0007759HP:0008011Peripheral opacification of the cornea1LDLR CL E G H39496547OMIM:143890Hypercholesterolemia, familial, 12157
HP:0007759HP:0008011Peripheral opacification of the cornea1LIPC CL E G H39906619OMIM:614025HEPATIC LIPASE DEFICIENCY35
HP:0007759HP:0008011Peripheral opacification of the cornea1MMP2 CL E G H43137166OMIM:259600Multicentric osteolysis, nodulosis, and arthropathy.64
HP:0007759HP:0011493Central opacification of the cornea1NOD2 CL E G H641275331OMIM:186580Blau syndrome187
HP:0007759HP:0011493Central opacification of the cornea1OVOL2 CL E G H5849515804OMIM:122000Corneal dystrophy, posterior polymorphous, 14
HP:0007759HP:0011493Central opacification of the cornea1PAX6 CL E G H50808620ORPHA:708Peters anomalyHP:0040281 - Very frequent194
HP:0007759HP:0008011Peripheral opacification of the cornea1PCSK9 CL E G H25573820001OMIM:603776HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3178
HP:0007759HP:0011493Central opacification of the cornea1PITX2 CL E G H53089005ORPHA:708Peters anomalyHP:0040281 - Very frequent51
HP:0007759HP:0008011Peripheral opacification of the cornea1PPP1R17 CL E G H1084216973OMIM:143890Hypercholesterolemia, familial, 12
HP:0007759HP:0007856Punctate opacification of the cornea1PSMB8 CL E G H56969545OMIM:256040Proteasome-associated autoinflammatory syndrome 1 and digenic forms20
HP:0007759HP:0011493Central opacification of the cornea1PTPN2 CL E G H57719650ORPHA:85410Oligoarticular juvenile idiopathic arthritis
HP:0007759HP:0011493Central opacification of the cornea1PTPN22 CL E G H261919652ORPHA:85410Oligoarticular juvenile idiopathic arthritis3
HP:0007759HP:0008011Peripheral opacification of the cornea1SLC29A3 CL E G H5531523096ORPHA:168569H syndrome68
HP:0007759HP:0008011Peripheral opacification of the cornea1SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0007759HP:0011493Central opacification of the cornea1SLC4A4 CL E G H867111030OMIM:604278Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation89
HP:0007759HP:0011493Central opacification of the cornea1STAT4 CL E G H677511365ORPHA:85410Oligoarticular juvenile idiopathic arthritis2
HP:0007759HP:0011493Central opacification of the cornea1TGFBI CL E G H704511771ORPHA:98962Granular corneal dystrophy type I58
HP:0007759HP:0000531Corneal crystals1TGFBI CL E G H704511771ORPHA:98962Granular corneal dystrophy type I58
HP:0007759HP:0000531Corneal crystals1TGFBI CL E G H704511771ORPHA:98963Granular corneal dystrophy type II58
HP:0007759HP:0011493Central opacification of the cornea1TGFBI CL E G H704511771ORPHA:98963Granular corneal dystrophy type II58
HP:0007759HP:0011494Generalized opacification of the cornea1TGFBI CL E G H704511771OMIM:121900Groenouw type I corneal dystrophy58
HP:0007759HP:0011493Central opacification of the cornea1TGFBI CL E G H704511771ORPHA:98964Lattice corneal dystrophy type IHP:0040281 - Very frequent58
HP:0007759HP:0011493Central opacification of the cornea1TGFBI CL E G H704511771ORPHA:98960Thiel-Behnke corneal dystrophy58
HP:0007759HP:0007856Punctate opacification of the cornea1UBIAD1 CL E G H2991430791OMIM:121800Corneal dystrophy, crystalline, of schnyder69
HP:0007759HP:0011493Central opacification of the cornea1VSX1 CL E G H3081312723OMIM:614195Craniofacial anomalies and anterior segment dysgenesis syndrome47
HP:0007759HP:0001084Corneal arcus2ABCG8 CL E G H6424113887OMIM:210250Sitosterolemia 176
HP:0007759HP:0001084Corneal arcus2ALDH18A1 CL E G H58329722OMIM:219150Cutis laxa, autosomal recessive, type IIIA.89
HP:0007759HP:0000585Band keratopathy2ANKRD55 CL E G H7972225681ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0007759HP:0001084Corneal arcus2APOA1 CL E G H335600OMIM:618463HYPOALPHALIPOPROTEINEMIA, PRIMARY, 240
HP:0007759HP:0001084Corneal arcus2APOA2 CL E G H336601OMIM:143890Hypercholesterolemia, familial, 1.9
HP:0007759HP:0001084Corneal arcus2APOB CL E G H338603OMIM:144010Hypercholesterolemia, familial, 2.356
HP:0007759HP:0001084Corneal arcus2APOE CL E G H348613ORPHA:412DysbetalipoproteinemiaHP:0040282 - Frequent39
HP:0007759HP:0000585Band keratopathy2CD247 CL E G H9191677ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional8
HP:0007759HP:0001084Corneal arcus2CHRDL1 CL E G H9185129861OMIM:309300MEGALOCORNEA9
HP:0007759HP:0000585Band keratopathy2COL18A1 CL E G H807812195OMIM:267750Knobloch syndrome 1.177
HP:0007759HP:0007760Crystalline corneal dystrophy2CYP4V2 CL E G H28544023198ORPHA:41751Bietti crystalline dystrophyHP:0040282 - Frequent126
HP:0007759HP:0001084Corneal arcus2EPHX2 CL E G H20533402OMIM:143890Hypercholesterolemia, familial, 1.1
HP:0007759HP:0001084Corneal arcus2GHR CL E G H26904263OMIM:143890Hypercholesterolemia, familial, 1.98
HP:0007759HP:0000585Band keratopathy2GNAS CL E G H27784392ORPHA:79443Pseudohypoparathyroidism type 1AHP:0040283 - Occasional101
HP:0007759HP:0000585Band keratopathy2IL2RA CL E G H35596008ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional65
HP:0007759HP:0000585Band keratopathy2IL2RB CL E G H35606009ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0007759HP:0000585Band keratopathy2JAG1 CL E G H1826188OMIM:118450Alagille syndrome 1.257
HP:0007759HP:0001084Corneal arcus2KERA CL E G H110816309OMIM:217300Cornea plana 2.8
HP:0007759HP:0001084Corneal arcus2LDLR CL E G H39496547OMIM:143890Hypercholesterolemia, familial, 1.2157
HP:0007759HP:0001084Corneal arcus2LIPC CL E G H39906619OMIM:614025HEPATIC LIPASE DEFICIENCY35
HP:0007759HP:0000585Band keratopathy2NOD2 CL E G H641275331OMIM:186580Blau syndrome.187
HP:0007759HP:0000585Band keratopathy2OVOL2 CL E G H5849515804OMIM:122000Corneal dystrophy, posterior polymorphous, 14
HP:0007759HP:0001084Corneal arcus2PCSK9 CL E G H25573820001OMIM:603776HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, 3; HCHOLA3178
HP:0007759HP:0001084Corneal arcus2PPP1R17 CL E G H1084216973OMIM:143890Hypercholesterolemia, familial, 1.2
HP:0007759HP:0000585Band keratopathy2PTPN2 CL E G H57719650ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional
HP:0007759HP:0000585Band keratopathy2PTPN22 CL E G H261919652ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional3
HP:0007759HP:0001084Corneal arcus2SLC29A3 CL E G H5531523096ORPHA:168569H syndromeHP:0040283 - Occasional68
HP:0007759HP:0001084Corneal arcus2SLC29A3 CL E G H5531523096OMIM:602782Histiocytosis-lymphadenopathy plus syndrome68
HP:0007759HP:0000585Band keratopathy2SLC4A4 CL E G H867111030OMIM:604278Renal tubular acidosis, proximal, with ocular abnormalities and mentalretardation.89
HP:0007759HP:0000585Band keratopathy2STAT4 CL E G H677511365ORPHA:85410Oligoarticular juvenile idiopathic arthritisHP:0040283 - Occasional2
HP:0007759HP:0007881Central corneal dystrophy2TGFBI CL E G H704511771ORPHA:98962Granular corneal dystrophy type I58
HP:0007759HP:0007827Nodular corneal dystrophy2TGFBI CL E G H704511771OMIM:121900Groenouw type I corneal dystrophy.58
HP:0007759HP:0008511Central posterior corneal opacity2TGFBI CL E G H704511771ORPHA:98964Lattice corneal dystrophy type IHP:0040283 - Occasional58
HP:0007759HP:0007881Central corneal dystrophy2TGFBI CL E G H704511771ORPHA:98960Thiel-Behnke corneal dystrophyHP:0040281 - Very frequent58
HP:0007759HP:0007760Crystalline corneal dystrophy2UBIAD1 CL E G H2991430791OMIM:121800Corneal dystrophy, crystalline, of schnyder.69
HP:0007759HP:0000585Band keratopathy2VSX1 CL E G H3081312723OMIM:614195Craniofacial anomalies and anterior segment dysgenesis syndrome47
HP:0007759HP:0032935Posterior crocodile shagreen of the cornea3 CL E G H
HP:0007759HP:0100690Mosaic central corneal dystrophy3 CL E G H


Genes (91) :ABCA1 ABCG8 AIRE ALDH18A1 ANKRD55 APOA1 APOA2 APOB APOE ASAH1 B4GAT1 CD247 CHRDL1 CHST6 COL18A1 CTNS CTSA CYP1B1 CYP4V2 DDB2 EPHX2 ERCC2 ERCC3 ERCC4 ERCC5 ERCC6 ERCC8 ESCO2 FLG FOXC1 FOXE3 GALNS GBA1 GHR GLB1 GNAS GNPTAB GNPTG IDUA IL2RA IL2RB JAG1 KERA KRAS KRT12 LCAT LDLR LIFR LIPC MBTPS2 MCOLN1 MMP2 NAGA NDP NLRP3 NOD2 NTRK1 OCLN OVOL2 PAX6 PCSK9 PEX1 PEX2 PEX5 PITX2 PITX3 POMGNT1 PPP1R17 PSMB8 PTPN2 PTPN22 RAB23 RIPK4 SC5D SLC29A3 SLC4A11 SLC4A4 SMARCAL1 SREBF1 STAT4 STS TGFBI TRAPPC2 TRPV3 UBIAD1 VSX1 VSX2 WDR73 WT1 XPA XPC

Diseases (90) :ORPHA:425 OMIM:205400 OMIM:210250 ORPHA:3453 OMIM:219150 ORPHA:85410 OMIM:618463 OMIM:143890 OMIM:144010 ORPHA:412 ORPHA:333 OMIM:615287 OMIM:309300 ORPHA:98969 OMIM:217800 OMIM:267750 OMIM:219750 OMIM:219900 OMIM:219800 ORPHA:411629 ORPHA:411634 ORPHA:411641 OMIM:256540 ORPHA:708 ORPHA:41751 ORPHA:910 OMIM:133540 OMIM:216400 OMIM:268300 ORPHA:461 OMIM:253000 OMIM:231005 OMIM:230650 OMIM:253010 ORPHA:79443 OMIM:252500 OMIM:252600 OMIM:252605 OMIM:607014 OMIM:118450 OMIM:217300 OMIM:600268 OMIM:122100 OMIM:136120 OMIM:245900 OMIM:601559 OMIM:614025 OMIM:308205 OMIM:252650 OMIM:259600 ORPHA:79280 OMIM:310600 OMIM:148200 OMIM:186580 OMIM:256800 OMIM:251290 OMIM:122000 OMIM:106210 ORPHA:2334 OMIM:148190 OMIM:603776 OMIM:214100 OMIM:614866 OMIM:214110 OMIM:107250 OMIM:253280 OMIM:256040 OMIM:201000 OMIM:263650 ORPHA:46059 OMIM:607330 ORPHA:168569 OMIM:602782 OMIM:217400 OMIM:217700 OMIM:604278 OMIM:242900 OMIM:158310 OMIM:608470 ORPHA:98962 ORPHA:98963 OMIM:121900 ORPHA:98964 ORPHA:98960 OMIM:313400 OMIM:614594 OMIM:121800 OMIM:614195 OMIM:610093 OMIM:251300
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.