Upington Disease |
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Flattened femoral head, Broad femoral neck, Arthralgia of the hip, Multiple enchondromatosis |
OMIM:191520 |
Metachondromatosis |
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Abnormality of epiphysis morphology, Abnormality of the metaphysis, Multiple enchondromatosis |
ORPHA:2499 |
Mucopolysaccharidoses, Unclassified Types |
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Opacification of the corneal stroma, Mucopolysacchariduria |
OMIM:252700 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
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Corneal dystrophy |
OMIM:615523 |
Corneal Dystrophy, Band-Shaped |
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Band-shaped corneal dystrophy |
OMIM:217500 |
Corneal Dystrophy, Lisch Epithelial |
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Corneal dystrophy |
OMIM:300778 |
Corneal Degeneration, Band-Shaped Spheroid |
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Corneal degeneration |
OMIM:217520 |
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
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Punctate corneal dystrophy |
OMIM:183850 |
Megalocornea |
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Megalocornea |
OMIM:249300 |
Genochondromatosis Type 1 |
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Multiple enchondromatosis |
ORPHA:85197 |
Corneal Dystrophy, Epithelial Basement Membrane |
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Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy |
OMIM:121820 |
Corneal Dystrophy, Subepithelial Mucinous |
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Corneal dystrophy |
OMIM:612867 |
Legg-Calvé-Perthes Disease |
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Cartilage destruction |
ORPHA:2380 |
Chondrodysplasia Calcificans Metaphysealis |
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Mucopolysacchariduria |
OMIM:215050 |
Corneal Hypesthesia, Familial |
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Recurrent corneal erosions, Decreased corneal sensation |
OMIM:122450 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
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Opacification of the corneal stroma, Mucopolysacchariduria, Proteinuria, Nephrotic syndrome |
OMIM:215250 |
Corneal Dystrophy, Endothelial, X-Linked |
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Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
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Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Enchondromatosis, Multiple, Ollier Type |
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Abnormality of long bone morphology, Multiple enchondromatosis |
OMIM:166000 |
Schnyder Corneal Dystrophy |
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Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
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Corneal dystrophy, Central corneal dystrophy |
OMIM:217600 |
Metachondromatosis |
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Bowing of the long bones, Multiple enchondromatosis |
OMIM:156250 |
Corneal Dystrophy, Groenouw Type I |
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Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Cataract 47 |
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Microcornea, Cataract, Glycosuria |
OMIM:612018 |
Ring Dermoid Of Cornea |
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Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... |
OMIM:180550 |
Cornea Plana 1, Autosomal Dominant |
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Flat cornea |
OMIM:121400 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
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Corneal degeneration, Corneal guttata, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
Pupillary Membrane, Persistence Of |
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Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
Cataract-Microcornea Syndrome |
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Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
Dermoids Of Cornea |
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Corneal opacity |
OMIM:304730 |
Macular Dystrophy, Corneal |
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Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy |
OMIM:217800 |
Scheie Syndrome |
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Mucopolysacchariduria, Corneal opacity |
ORPHA:93474 |
Lattice Corneal Dystrophy Type I |
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Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... |
ORPHA:98964 |
Multiple Sulfatase Deficiency |
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Mucopolysacchariduria, Corneal opacity, Cataract |
ORPHA:585 |
Mucopolysaccharidosis Type 6 |
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Opacification of the corneal stroma, Mucopolysacchariduria |
ORPHA:583 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
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Corneal guttata, Corneal stromal edema, Corneal dystrophy, Keratitis, Abnormal Descemet membrane ... |
OMIM:613270 |
Fucosidosis |
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Mucopolysacchariduria, Corneal opacity |
ORPHA:349 |
Oculoskeletodental Syndrome |
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Developmental cataract, Renal agenesis, Mucopolysacchariduria, Hypercalciuria |
OMIM:618440 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
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Corneal degeneration, Corneal guttata, Corneal dystrophy |
OMIM:610158 |
Mucopolysaccharidosis Type 7 |
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Mucopolysacchariduria, Corneal opacity |
ORPHA:584 |
Multiple Sulfatase Deficiency |
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Mucopolysacchariduria, Corneal opacity |
OMIM:272200 |
Corneal Dystrophy And Perceptive Deafness |
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Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
Mucopolysaccharidosis, Type Iva |
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Opacification of the corneal stroma, Keratan sulfate excretion in urine, Chondroitin sulfate excr... |
OMIM:253000 |
Short Stature, Brussels Type |
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Delayed epiphyseal ossification, Calcification of cartilage |
ORPHA:2867 |
Corneal Endothelial Dystrophy |
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Opacification of the corneal stroma, Increased corneal thickness, Abnormal Descemet membrane morp... |
OMIM:217700 |
Ollier Disease |
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Abnormal cartilage morphology, Abnormality of the metaphysis, Multiple enchondromatosis |
ORPHA:296 |
Mucopolysaccharidosis, Type Vii |
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Dermatan sulfate excretion in urine, Corneal opacity, Heparan sulfate excretion in urine, Urinary... |
OMIM:253220 |
Megalocornea |
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Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
Mucopolysaccharidosis, Type Iiia |
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Heparan sulfate excretion in urine |
OMIM:252900 |
Mucopolysaccharidosis Type 4 |
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Mucopolysacchariduria, Corneal opacity |
ORPHA:582 |
Mucopolysaccharidosis, Type Ii |
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Dermatan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Heparan sulfate excreti... |
OMIM:309900 |
Herpes Simplex Virus Stromal Keratitis |
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Corneal perforation, Decreased corneal sensation, Descemet Membrane Folds, Corneal stromal edema,... |
ORPHA:137599 |
Cataract 1, Multiple Types |
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Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... |
OMIM:116200 |
Amoebic Keratitis |
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Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Iris atrophy, Abnormal c... |
ORPHA:67043 |
Mucopolysaccharidosis, Type Iiib |
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Heparan sulfate excretion in urine |
OMIM:252920 |
Mucopolysaccharidosis, Type Ivb |
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Opacification of the corneal stroma, Keratan sulfate excretion in urine |
OMIM:253010 |
Macular Corneal Dystrophy |
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Decreased corneal thickness, Decreased corneal sensation, Hyperopic astigmatism, Corneal crystals... |
ORPHA:98969 |
Kniest Dysplasia |
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Keratan sulfate excretion in urine, Cataract, Aplasia/Hypoplasia of the lens, Lens luxation |
ORPHA:485 |
X-Linked Corneal Dermoid |
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Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
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Aniridia, Microcornea, Cataract |
OMIM:106230 |
Edict Syndrome |
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Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus |
OMIM:614303 |
Mucopolysaccharidosis, Type Iiic |
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Heparan sulfate excretion in urine |
OMIM:252930 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
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Corneal guttata, Corneal dystrophy |
OMIM:613268 |
Larsen-Like Syndrome, Lethal Type |
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Abnormal cartilage matrix |
OMIM:245650 |
Mucopolysaccharidosis Type 3 |
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Mucopolysacchariduria, Corneal opacity, Urinary glycosaminoglycan excretion, Cataract, Opacificat... |
ORPHA:581 |
Mucopolysaccharidosis, Type Iiid |
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Heparan sulfate excretion in urine |
OMIM:252940 |
Cornea Plana 2, Autosomal Recessive |
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Decreased corneal thickness, Corneal arcus, Flat cornea |
OMIM:217300 |
Mucolipidosis Ii Alpha/Beta |
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Opacification of the corneal stroma, Mucopolysacchariduria, Megalocornea |
OMIM:252500 |
Mucopolysaccharidosis Type 1 |
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Mucopolysacchariduria, Corneal opacity |
ORPHA:579 |
Bilateral Acute Depigmentation Of The Iris |
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Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Iris pigment dispersion, Pigmen... |
ORPHA:69736 |
Corneal Dystrophy, Thiel-Behnke Type |
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Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Mucopolysaccharidosis, Type Vi |
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Opacification of the corneal stroma, Dermatan sulfate excretion in urine |
OMIM:253200 |
Glaucoma 3, Primary Congenital, D |
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Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Anterior Segment Dysgenesis 3 |
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Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... |
OMIM:601631 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Heavy proteinuria, Nephrotic syndrome, Enlarged kidney, Urinary glycosaminoglycan excretion, Prot... |
ORPHA:505248 |
Lethal Kniest-Like Dysplasia |
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Broad long bones, Abnormal cartilage matrix, Wide anterior fontanel, Abnormality of the ischium, ... |
ORPHA:2347 |
Hurler Syndrome |
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Mucopolysacchariduria, Corneal opacity |
ORPHA:93473 |
Kniest Dysplasia |
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Flattened, squared-off epiphyses of tubular bones, Delayed epiphyseal ossification, Coxa vara, Hi... |
OMIM:156550 |
Alport Syndrome 2, Autosomal Recessive |
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Glomerular basement membrane lamellation, Corneal erosion, Nephrotic syndrome, Hematuria, Nephrit... |
OMIM:203780 |
Corneal Dystrophy, Reis-Bucklers Type |
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Corneal dystrophy, Opacification of the corneal stroma, Corneal opacity, Corneal erosion |
OMIM:608470 |
Granular Corneal Dystrophy Type Ii |
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Opacification of the corneal stroma, Subepithelial corneal opacities, Granular corneal dystrophy,... |
ORPHA:98963 |
Anterior Segment Dysgenesis 6 |
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Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... |
OMIM:617315 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
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Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... |
OMIM:122000 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
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Corneal guttata, Corneal dystrophy |
OMIM:609141 |
Limbal Stem Cell Deficiency |
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Conjunctival hyperemia, Corneal perforation, Corneal scarring, Opacification of the corneal epith... |
ORPHA:171673 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Corneal crystals, Centra... |
ORPHA:98962 |
X-Linked Endothelial Corneal Dystrophy |
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Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy |
ORPHA:293621 |
Atelosteogenesis, Type Ii |
|
Short middle phalanx of finger, Short greater sciatic notch, Bifid humerus, Hitchhiker thumb, Lac... |
OMIM:256050 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
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Corneal stromal edema, Corneal opacity, Increased corneal thickness, Abnormal Descemet membrane m... |
ORPHA:293603 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... |
OMIM:107250 |
Peters Anomaly |
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Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... |
ORPHA:708 |
Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
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Corneal opacity, Ectopia pupillae |
OMIM:608484 |
Familial Calcium Pyrophosphate Deposition |
|
Calcification of cartilage |
ORPHA:1416 |
Autosomal Dominant Keratitis |
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Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... |
ORPHA:2334 |
Epithelial Recurrent Erosion Dystrophy |
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Keratoconjunctivitis sicca, Subepithelial corneal opacities, Corneal scarring, Recurrent corneal ... |
ORPHA:293381 |
Hurler Syndrome |
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Opacification of the corneal stroma, Urinary glycosaminoglycan excretion, Corneal opacity |
OMIM:607014 |
Cartilage-Hair Hypoplasia |
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Mucopolysacchariduria |
ORPHA:175 |
Rutherfurd Syndrome |
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Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
Corneal Dystrophy, Posterior Amorphous |
|
Corneal dystrophy, Ectopia pupillae, Iris coloboma |
OMIM:612868 |
Vernal Keratoconjunctivitis |
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Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal neovascularization, Punctate... |
ORPHA:70476 |
Spondyloepiphyseal Dysplasia Tarda |
|
Flattened femoral head, Abnormal cartilage morphology, Arthralgia of the hip, Abnormality of the ... |
ORPHA:93284 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Dermatan sulfate excretion in urine, Corneal opacity, Heparan sulfate excretion in urine |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Dermatan sulfate excretion in urine, Corneal opacity, Heparan sulfate excretion in urine |
ORPHA:217093 |
Fuchs Endothelial Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Corneal opacity, Abnormal corneal endothelium morpho... |
ORPHA:98974 |
Carpenter Syndrome |
|
Toe syndactyly, Polydactyly, Broad thumb, Finger syndactyly, Genu valgum, Brachydactyly, Syndacty... |
ORPHA:65759 |
Neurotrophic Keratopathy |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Corneal scarring, Cornea... |
ORPHA:137596 |
Gm1 Gangliosidosis Type 1 |
|
Urinary glycosaminoglycan excretion, Increased urinary galactosylated oligosaccharide |
ORPHA:79255 |
Posterior Polymorphous Corneal Dystrophy |
|
Corneal stromal edema, Reduced number of corneal endothelial cells, Increased corneal curvature, ... |
ORPHA:98973 |
Generalized Eruptive Keratoacanthoma |
|
Keratoconjunctivitis sicca, Abnormal cornea morphology, Conjunctivitis |
ORPHA:411777 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Abnormal cartilage matrix, Short distal phalanx of finger, Epiphyseal stippling |
ORPHA:86822 |
Multiple Osteochondromas |
|
Abnormality of tibia morphology, Short lower limbs, Abnormality of femur morphology, Abnormal low... |
ORPHA:321 |
Brittle Cornea Syndrome 1 |
|
Decreased corneal thickness, Keratoglobus, Congenital hip dislocation, Abnormal cornea morphology... |
OMIM:229200 |
Sclerocornea, Autosomal Dominant |
|
Sclerocornea |
OMIM:181700 |
Iridocorneal Endothelial Syndrome |
|
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... |
ORPHA:64734 |
Dermochondrocorneal Dystrophy |
|
Irregular tarsal ossification, Subepithelial corneal opacities, Corneal dystrophy, Anterior corti... |
OMIM:221800 |
Keutel Syndrome |
|
Short distal phalanx of finger, Calcification of cartilage |
ORPHA:85202 |
Juvenile Idiopathic Arthritis |
|
Abnormal sacroiliac joint morphology, Cartilage destruction |
ORPHA:92 |
Adult-Onset Still Disease |
|
Cartilage destruction |
ORPHA:829 |
Juvenile Nephropathic Cystinosis |
|
Renal Fanconi syndrome, Proximal tubulopathy, Stage 5 chronic kidney disease, Glycosuria, Renal p... |
ORPHA:411634 |
Tracheobronchopathia Osteochondroplastica |
|
Calcification of cartilage |
ORPHA:3348 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal cartilage morphology, Corneal opacity, Iris coloboma |
ORPHA:2396 |
Infantile Nephropathic Cystinosis |
|
Renal Fanconi syndrome, Corneal crystals, Renal tubular dysfunction, Hyperphosphaturia, Abnormal ... |
ORPHA:411629 |
Moderate Hemophilia A |
|
Cartilage destruction |
ORPHA:169805 |
Alkaptonuria |
|
Cartilage destruction, Calcification of cartilage |
ORPHA:56 |
Reactive Arthritis |
|
Cartilage destruction, Conjunctivitis |
ORPHA:29207 |