Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal opacity, Corneal dystrophy |
OMIM:300779 |
Granular Corneal Dystrophy Type Ii |
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Subepithelial corneal opacities, Granular corneal dystrophy, Recurrent corneal erosions, Corneal ... |
ORPHA:98963 |
Schnyder Corneal Dystrophy |
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Crystalline corneal dystrophy, Corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
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Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Keratitis, Hereditary |
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Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Corneal Dystrophy, Groenouw Type I |
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Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy |
OMIM:121900 |
Macular Corneal Dystrophy |
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Recurrent corneal erosions, Punctate opacification of the cornea, Corneal crystals, Decreased cor... |
ORPHA:98969 |
Granular Corneal Dystrophy Type I |
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Central corneal dystrophy, Subepithelial corneal opacities, Abnormal corneal epithelium morpholog... |
ORPHA:98962 |
Fish-Eye Disease |
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Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:136120 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
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Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Thiel-Behnke Corneal Dystrophy |
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Central corneal dystrophy, Subepithelial corneal opacities, Recurrent corneal erosions, Astigmati... |
ORPHA:98960 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
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Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
Cystinosis, Adult Nonnephropathic |
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Corneal crystals, Elevated circulating creatinine concentration |
OMIM:219750 |
Macular Dystrophy, Corneal |
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Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy |
OMIM:217800 |
Hypoalphalipoproteinemia, Primary, 2 |
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Decreased HDL cholesterol concentration, Cataract, Corneal arcus |
OMIM:618463 |
Spinocerebellar Degeneration And Corneal Dystrophy |
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Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
Familial Pterygium Of The Conjunctiva |
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Opacification of the corneal stroma |
ORPHA:2989 |
Corneal Dystrophy And Perceptive Deafness |
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Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
Microphthalmia, Isolated 2 |
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Opacification of the corneal stroma |
OMIM:610093 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
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Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Ocular Cystinosis |
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Corneal crystals |
ORPHA:411641 |
Corneal Endothelial Dystrophy |
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Abnormal Descemet membrane morphology, Increased corneal thickness, Opacification of the corneal ... |
OMIM:217700 |
Pentosuria |
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Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
Hyperlipoproteinemia, Type Ii, And Deafness |
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Hypertriglyceridemia, Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia |
OMIM:144300 |
Lattice Corneal Dystrophy Type I |
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Subepithelial corneal opacities, Central posterior corneal opacity, Recurrent corneal erosions, C... |
ORPHA:98964 |
Peters Anomaly |
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Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ... |
ORPHA:708 |
Keratoendotheliitis Fugax Hereditaria |
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Conjunctival hyperemia, Keratitis, Opacification of the corneal stroma |
OMIM:148200 |
Corneal Dystrophy, Meesmann, 1 |
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Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Dermoids Of Cornea |
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Corneal opacity |
OMIM:304730 |
Corneal Dystrophy, Reis-Bucklers Type |
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Corneal erosion, Opacification of the corneal stroma, Corneal opacity, Corneal dystrophy |
OMIM:608470 |
Megalocornea |
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Cataract, Megalocornea, Astigmatism, Iridodonesis, Mosaic corneal dystrophy, Decreased corneal th... |
OMIM:309300 |
Rutherfurd Syndrome |
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Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
Cataract-Microcornea Syndrome |
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Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea |
ORPHA:1377 |
Anterior Segment Dysgenesis 1 |
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Opacification of the corneal stroma, Posterior polar cataract, Microcornea, Peters anomaly, Ocula... |
OMIM:107250 |
Cornea Plana 2, Autosomal Recessive |
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Decreased corneal thickness, Corneal arcus, Sclerocornea, Corneal opacity, Flat cornea |
OMIM:217300 |
Bietti Crystalline Corneoretinal Dystrophy |
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Marginal corneal dystrophy, Corneal crystals |
OMIM:210370 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
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Corneal crystals |
OMIM:219900 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
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Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Glaucoma 3, Primary Congenital, D |
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Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
X-Linked Endothelial Corneal Dystrophy |
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Nuclear cataract, Abnormal corneal endothelium morphology, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
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Opacification of the corneal stroma |
OMIM:204850 |
Autosomal Dominant Keratitis |
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Cataract, Hypoplastic iris stroma, Limbal stem cell deficiency, Abnormal corneal limbus morpholog... |
ORPHA:2334 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
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Descemet Membrane Folds, Corneal guttata, Corneal dystrophy, Corneal stromal edema, Corneal degen... |
OMIM:136800 |
Limbal Stem Cell Deficiency |
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Corneal perforation, Opacification of the corneal epithelium, Corneal scarring, Cornea verticilla... |
ORPHA:171673 |
Hepatic Lipase Deficiency |
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Hypertriglyceridemia, Corneal arcus, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Amoebic Keratitis |
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Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... |
ORPHA:67043 |
Lecithin:Cholesterol Acyltransferase Deficiency |
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Hypertriglyceridemia, Decreased HDL cholesterol concentration, Corneal arcus |
OMIM:245900 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
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Corneal guttata, Corneal stromal edema, Corneal opacity |
OMIM:613267 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
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Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,... |
OMIM:122000 |
Ichthyosis, X-Linked |
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Opacification of the corneal stroma |
OMIM:308100 |
Infantile Nephropathic Cystinosis |
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Abnormal blood ion concentration, Hypophosphatemia, Corneal crystals, Hypokalemia, Abnormal corne... |
ORPHA:411629 |
Hypercholesterolemia, Familial, 3 |
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Corneal arcus, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Recessive X-Linked Ichthyosis |
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Opacification of the corneal stroma |
ORPHA:461 |
Juvenile Nephropathic Cystinosis |
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Hypophosphatemia, Hypouricemia, Hypokalemia, Hyponatremia, Corneal crystals, Hypocalcemia, Abnorm... |
ORPHA:411634 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
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Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Xp22.3 Microdeletion Syndrome |
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Opacification of the corneal stroma |
ORPHA:1643 |
Hypercholesterolemia, Familial, 2 |
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Increased LDL cholesterol concentration, Corneal arcus, Hypercholesterolemia |
OMIM:144010 |
Brachyolmia Type 1, Toledo Type |
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Opacification of the corneal stroma |
OMIM:271630 |
Mucolipidosis Iv |
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Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
X-Linked Corneal Dermoid |
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Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Morquio Syndrome C |
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Corneal opacity |
OMIM:252300 |
Cataract 21, Multiple Types |
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Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Corneal opacity, Microcornea, Pe... |
OMIM:610202 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
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Cataract, Hyperamylasemia, Hypokalemia, Band keratopathy |
OMIM:604278 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
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Corneal guttata, Corneal dystrophy, Corneal stromal edema, Abnormal Descemet membrane morphology,... |
OMIM:613270 |
Tangier Disease |
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Decreased circulating apolipoprotein A-I concentration, Elevated circulating apolipoprotein A-II ... |
OMIM:205400 |
Mucolipidosis Iii Gamma |
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Increased serum beta-hexosaminidase, Opacification of the corneal stroma |
OMIM:252605 |
Apolipoprotein A-I Deficiency |
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Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, Opacification ... |
ORPHA:425 |
Hypercholesterolemia, Familial, 1 |
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Increased LDL cholesterol concentration, Corneal arcus |
OMIM:143890 |
Mucous Membrane Pemphigoid |
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Corneal opacity |
ORPHA:46486 |
Gm1-Gangliosidosis, Type Iii |
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Opacification of the corneal stroma |
OMIM:230650 |
Anterior Segment Dysgenesis 7 |
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Cataract, Iris coloboma, Buphthalmos, Anterior synechiae of the anterior chamber, Sclerocornea, C... |
OMIM:269400 |
Cystinosis, Nephropathic |
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Hypophosphatemia, Recurrent corneal erosions, Hypokalemia, Hypophosphatemic rickets, Reduced bloo... |
OMIM:219800 |
Ophthalmomandibulomelic Dysplasia |
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Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Norrie Disease |
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Cataract, Buphthalmos, Shallow anterior chamber, Hypoplasia of the iris, Corneal opacity, Opacifi... |
OMIM:310600 |
Anterior Segment Dysgenesis 6 |
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Posterior synechiae of the anterior chamber, Corneal opacity, Developmental glaucoma, Abnormal De... |
OMIM:617315 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
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Irregular astigmatism, Corneal stromal edema, Increased corneal thickness, Corneal opacity, Abnor... |
ORPHA:293603 |
Keratoconus Posticus Circumscriptus |
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Keratoconus, Central posterior corneal opacity |
OMIM:244600 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
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Opacification of the corneal stroma |
OMIM:601356 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Corneal ulceration, Recurrent corneal erosions, Corneal scarring, Opacification of the corneal st... |
OMIM:256800 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
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Cataract, Corneal opacity, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
Herpes Simplex Virus Stromal Keratitis |
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Corneal perforation, Descemet Membrane Folds, Herpetiform corneal ulceration, Corneal stromal ede... |
ORPHA:137599 |
Mucolipidosis Iii Alpha/Beta |
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Increased serum beta-hexosaminidase, Opacification of the corneal stroma, Hyperopic astigmatism |
OMIM:252600 |
Aniridia 1 |
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Cataract, Ectopia pupillae, Ectopia lentis, Corneal erosion, Anterior subcapsular cataract, Hypop... |
OMIM:106210 |
Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Chromosome 6Pter-P24 Deletion Syndrome |
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Opacification of the corneal stroma, Posterior embryotoxon, Axenfeld anomaly, Peters anomaly, Ocu... |
OMIM:612582 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma |
OMIM:215250 |
Anterior Segment Dysgenesis 2 |
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Cataract, Congenital aphakia, Anterior segment of eye aplasia, Posterior synechiae of the anterio... |
OMIM:610256 |
Bietti Crystalline Dystrophy |
|
Crystalline corneal dystrophy |
ORPHA:41751 |
Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma |
OMIM:256540 |
Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
Anterior Segment Dysgenesis 5 |
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Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Sclerocornea, Developmental c... |
OMIM:604229 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Anterior chamber synechiae, Microcornea, Opacification of the corneal stroma |
OMIM:601499 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
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Cataract, Hypoargininemia, Hyperammonemia, Low plasma citrulline, Corneal arcus, Hypoprolinemia, ... |
OMIM:219150 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Corneal opacity, ... |
ORPHA:98974 |
Gomez-Lopez-Hernandez Syndrome |
|
Opacification of the corneal stroma |
OMIM:601853 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Cataract, Elevated circulating long chain fatty acid concentration, Opacification of the corneal ... |
OMIM:214110 |
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome |
|
Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Band keratopathy, Ocular ante... |
OMIM:614195 |
Posterior Polymorphous Corneal Dystrophy |
|
Ectopia pupillae, Astigmatism, Anterior synechiae of the anterior chamber, Corneal stromal edema,... |
ORPHA:98973 |
Congenital Primary Aphakia |
|
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye |
ORPHA:83461 |
Pseudo-Torch Syndrome 1 |
|
Cataract, Opacification of the corneal stroma |
OMIM:251290 |
Carpenter Syndrome 1 |
|
Microcornea, Opacification of the corneal stroma |
OMIM:201000 |
Oligoarticular Juvenile Idiopathic Arthritis |
|
Cataract, Band keratopathy, Anterior chamber synechiae |
ORPHA:85410 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Keratoconjunctivitis, Corneal neovascularization, Opacification of the corneal stroma |
OMIM:158310 |
Schimke Immunoosseous Dysplasia |
|
Astigmatism, Opacification of the corneal stroma |
OMIM:242900 |
Farber Disease |
|
Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma |
ORPHA:333 |
Mucopolysaccharidosis, Type Ivb |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:253010 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Cataract, Elevated circulating long chain fatty acid concentration, Opacification of the corneal ... |
OMIM:214100 |
Lcat Deficiency |
|
Hypertriglyceridemia, Decreased circulating apolipoprotein A-I concentration, Decreased HDL chole... |
ORPHA:650 |
Galloway-Mowat Syndrome 1 |
|
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Hypoalbuminemia |
OMIM:251300 |
Sitosterolemia 1 |
|
Reduced haptoglobin level, Elevated circulating sitosterol concentration, Corneal arcus, Hyperapo... |
OMIM:210250 |
Mucopolysaccharidosis Type 6 |
|
Opacification of the corneal stroma |
ORPHA:583 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Brushfield spots, Cataract, Elevated circulating phytanic acid concentration, Increased circulati... |
OMIM:614866 |
Hurler Syndrome |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:607014 |
Mucopolysaccharidosis, Type Iva |
|
Opacification of the corneal stroma |
OMIM:253000 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Corneal opacity |
ORPHA:79292 |
Dysbetalipoproteinemia |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
ORPHA:412 |
Lathosterolosis |
|
Cataract, Microcornea, Opacification of the corneal stroma |
ORPHA:46059 |
Iridocorneal Endothelial Syndrome |
|
Ectopia pupillae, Abnormal migration of corneal endothelium, Central heterochromia, Hypoplastic i... |
ORPHA:64734 |
Atopic Keratoconjunctivitis |
|
Chemosis, Keratoconjunctivitis sicca, Corneal opacity, Keratitis, Corneal neovascularization |
ORPHA:163934 |
Mosaic Trisomy 1 |
|
Opacification of the corneal stroma |
ORPHA:1692 |
Oculoectodermal Syndrome |
|
Limbal dermoid, Astigmatism, Microcornea, Opacification of the corneal stroma |
OMIM:600268 |
Lathosterolosis |
|
Hyperbilirubinemia, Cataract, Opacification of the corneal stroma, Abnormal circulating cholester... |
OMIM:607330 |
Intermediate Uveitis |
|
Cataract, Posterior synechiae of the anterior chamber, Band keratopathy |
ORPHA:279914 |
Mucolipidosis Ii Alpha/Beta |
|
Megalocornea, Increased serum beta-hexosaminidase, Opacification of the corneal stroma |
OMIM:252500 |
Gaucher Disease, Type Iiic |
|
Opacification of the corneal stroma |
OMIM:231005 |
Stuve-Wiedemann Syndrome 1 |
|
Opacification of the corneal stroma |
OMIM:601559 |
Mucopolysaccharidosis Type 3 |
|
Cataract, Corneal opacity, Opacification of the corneal stroma |
ORPHA:581 |
Xeroderma Pigmentosum |
|
Cataract, Pterygium, Opacification of the corneal stroma, Keratitis, Conjunctival telangiectasia |
ORPHA:910 |
Bartsocas-Papas Syndrome 1 |
|
Corneal ulceration, Axillary pterygium, Popliteal pterygium, Opacification of the corneal stroma,... |
OMIM:263650 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Cataract, Band keratopathy |
ORPHA:2959 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Megalocornea, Elevated circulating creatine kinase concentration, Buphthalmos, Opacific... |
OMIM:253280 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity |
OMIM:259600 |
Hereditary Acrokeratotic Poikiloderma |
|
Keratoconjunctivitis, Opacification of the corneal stroma |
ORPHA:2907 |
Noonan Syndrome 9 |
|
Prominent corneal nerve fibers |
OMIM:616559 |
Cockayne Syndrome B |
|
Developmental cataract, Hypoplasia of the iris, Microcornea, Opacification of the corneal stroma |
OMIM:133540 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Iris coloboma, Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Po... |
OMIM:221900 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Cataract, Keratoconjunctivitis, Band keratopathy |
OMIM:269200 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma |
ORPHA:79280 |
Cockayne Syndrome A |
|
Cataract, Opacification of the corneal stroma |
OMIM:216400 |
Pseudohypoparathyroidism Type 1A |
|
Cataract, Hypocalcemic seizures, Hyperphosphatemia, Band keratopathy, Hypocalcemia, Conjunctiviti... |
ORPHA:79443 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Opacification of the corneal stroma, Elevated circulating creatine kinase concentration |
OMIM:615287 |
Alagille Syndrome 1 |
|
Cataract, Abnormal anterior chamber morphology, Band keratopathy, Hypertriglyceridemia, Microcorn... |
OMIM:118450 |
H Syndrome |
|
Hypertriglyceridemia, Corneal arcus |
ORPHA:168569 |
Fryns Syndrome |
|
Opacification of the corneal stroma |
OMIM:229850 |
Blau Syndrome |
|
Cataract, Iritis, Band keratopathy |
OMIM:186580 |
Cockayne Syndrome |
|
Cataract, Corneal ulceration, Hyperuricemia, Lentiglobus, Keratoconjunctivitis sicca, Band kerato... |
ORPHA:191 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Corneal opacity, ... |
ORPHA:91495 |
Knobloch Syndrome 1 |
|
Cortical cataract, Band keratopathy, Persistent pupillary membrane, Lens subluxation, Development... |
OMIM:267750 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Punctate opacification of the cornea, Hypertriglyceridemia, Decreased HDL cholesterol concentrati... |
OMIM:256040 |
Proximal Renal Tubular Acidosis |
|
Cataract, Bicarbonaturia, Hypokalemia, Band keratopathy |
ORPHA:47159 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Corneal arcus |
OMIM:602782 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Recurrent corneal erosions, Keratitis, Corneal neovascularization, Opacification of the corneal s... |
OMIM:308205 |
Roberts-Sc Phocomelia Syndrome |
|
Cataract, Corneal opacity, Opacification of the corneal stroma |
OMIM:268300 |
Noonan Syndrome 10 |
|
Prominent corneal nerve fibers |
OMIM:616564 |
Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia, Prominent corneal nerve fibers |
ORPHA:653 |