Upington Disease |
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Flattened femoral head, Broad femoral neck, Multiple enchondromatosis, Arthralgia of the hip |
OMIM:191520 |
Metachondromatosis |
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Abnormal metaphysis morphology, Multiple enchondromatosis, Abnormal epiphysis morphology |
ORPHA:2499 |
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 |
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
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Punctate corneal dystrophy |
OMIM:183850 |
Genochondromatosis Type 1 |
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Multiple enchondromatosis |
ORPHA:85197 |
Legg-Calvé-Perthes Disease |
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Cartilage destruction |
ORPHA:2380 |
Chondrodysplasia Calcificans Metaphysealis |
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Mucopolysacchariduria |
OMIM:215050 |
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, Posterior Polymorphous, 2 |
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Corneal dystrophy, Corneal opacity |
OMIM:609140 |
Corneal Dystrophy, Endothelial, X-Linked |
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Corneal dystrophy, Corneal opacity, Band keratopathy |
OMIM:300779 |
Enchondromatosis, Multiple, Ollier Type |
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Multiple enchondromatosis, Abnormal long bone morphology |
OMIM:166000 |
Corneal Dystrophy, Epithelial Basement Membrane |
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Corneal dystrophy, Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy |
OMIM:121820 |
Schnyder Corneal Dystrophy |
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Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
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Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Metachondromatosis |
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Multiple enchondromatosis, Bowing of the long bones |
OMIM:156250 |
Corneal Dystrophy, Groenouw Type I |
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Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
Cataract 47 |
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Glycosuria, Cataract, Microcornea |
OMIM:612018 |
Cornea Plana 1, Autosomal Dominant |
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Flat cornea |
OMIM:121400 |
Ring Dermoid Of Cornea |
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Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... |
OMIM:180550 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
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Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
Cataract-Microcornea Syndrome |
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Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Pupillary Membrane, Persistence Of |
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Megalocornea, Persistent pupillary membrane, Developmental cataract |
OMIM:178900 |
Dermoids Of Cornea |
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Corneal opacity |
OMIM:304730 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
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Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
Macular Dystrophy, Corneal |
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Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea |
OMIM:217800 |
Glaucoma 3, Primary Congenital, D |
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Primary congenital glaucoma, Corneal opacity, Ectopia lentis |
OMIM:613086 |
Scheie Syndrome |
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Mucopolysacchariduria, Corneal opacity |
ORPHA:93474 |
Hurler-Scheie Syndrome |
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Dermatan sulfate excretion in urine, Corneal opacity, Heparan sulfate excretion in urine |
OMIM:607015 |
Multiple Sulfatase Deficiency |
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Cataract, Mucopolysacchariduria, Corneal opacity |
ORPHA:585 |
Lattice Corneal Dystrophy Type I |
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Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... |
ORPHA:98964 |
Corneal Endothelial Dystrophy |
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Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... |
OMIM:217700 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
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Corneal guttata, Corneal stromal edema, Abnormal Descemet membrane morphology, Keratitis, Corneal... |
OMIM:613270 |
Fucosidosis |
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Mucopolysacchariduria, Corneal opacity |
ORPHA:349 |
Spinocerebellar Degeneration And Corneal Dystrophy |
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Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Mucopolysaccharidosis Type 6 |
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Opacification of the corneal stroma, Mucopolysacchariduria |
ORPHA:583 |
Oculoskeletodental Syndrome |
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Hypercalciuria, Renal agenesis, Mucopolysacchariduria, Developmental cataract |
OMIM:618440 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
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Corneal degeneration, Corneal guttata, Corneal dystrophy |
OMIM:610158 |
Corneal Dystrophy, Congenital Stromal |
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Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy |
OMIM:610048 |
Mucopolysaccharidosis Type 7 |
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Mucopolysacchariduria, Corneal opacity |
ORPHA:584 |
Megalocornea |
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Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
Multiple Sulfatase Deficiency |
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Mucopolysacchariduria, Corneal opacity |
OMIM:272200 |
Corneal Dystrophy And Perceptive Deafness |
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Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Short Stature, Brussels Type |
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Calcification of cartilage, Delayed epiphyseal ossification |
ORPHA:2867 |
Mucopolysaccharidosis, Type Ivb |
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Chondroitin sulfate excretion in urine, Opacification of the corneal stroma, Keratan sulfate excr... |
OMIM:253010 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
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Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Ollier Disease |
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Abnormal metaphysis morphology, Multiple enchondromatosis, Abnormal cartilage morphology |
ORPHA:296 |
Mucopolysaccharidosis, Type Vii |
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Dermatan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Corneal opacity, Hepara... |
OMIM:253220 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
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Corneal opacity, Corneal guttata, Corneal stromal edema |
OMIM:613267 |
Hurler Syndrome |
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Dermatan sulfate excretion in urine, Corneal opacity, Opacification of the corneal stroma, Urinar... |
OMIM:607014 |
Mucopolysaccharidosis Type 4 |
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Mucopolysacchariduria, Corneal opacity |
ORPHA:582 |
Cataract 21, Multiple Types |
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Cortical pulverulent cataract, Cerulean cataract, Microcornea, Iris coloboma, Peters anomaly, Cor... |
OMIM:610202 |
Mucopolysaccharidosis, Type Iva |
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Chondroitin sulfate excretion in urine, Opacification of the corneal stroma, Keratan sulfate excr... |
OMIM:253000 |
Mucopolysaccharidosis, Type Iiib |
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Heparan sulfate excretion in urine |
OMIM:252920 |
Mucopolysaccharidosis, Type Iiia |
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Heparan sulfate excretion in urine |
OMIM:252900 |
Mucopolysaccharidosis, Type Ii |
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Dermatan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Heparan sulfate excreti... |
OMIM:309900 |
Kniest Dysplasia |
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Lens luxation, Cataract, Keratan sulfate excretion in urine, Aplasia/Hypoplasia of the lens |
ORPHA:485 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
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Corneal dystrophy, Corneal guttata |
OMIM:613268 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
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Cataract, Aniridia, Microcornea |
OMIM:106230 |
Corneal Dystrophy, Thiel-Behnke Type |
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Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Cataract 1, Multiple Types |
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Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea |
OMIM:116200 |
Mucopolysaccharidosis Type 3 |
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Cataract, Mucopolysacchariduria, Corneal opacity, Opacification of the corneal stroma, Urinary gl... |
ORPHA:581 |
Larsen-Like Syndrome, Lethal Type |
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Abnormal cartilage matrix |
OMIM:245650 |
Mucopolysaccharidosis, Type Iiic |
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Heparan sulfate excretion in urine |
OMIM:252930 |
Cornea Plana 2, Autosomal Recessive |
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Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea |
OMIM:217300 |
Amoebic Keratitis |
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Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
Bilateral Acute Depigmentation Of The Iris |
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Abnormal iris pigmentation, Pigment deposition in the trabecular meshwork, Iris pigment dispersio... |
ORPHA:69736 |
Mucopolysaccharidosis Type 1 |
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Mucopolysacchariduria, Corneal opacity |
ORPHA:579 |
Anterior Segment Dysgenesis 7 |
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Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
Herpes Simplex Virus Stromal Keratitis |
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Herpetiform corneal ulceration, Descemet Membrane Folds, Corneal stromal edema, Deep anterior cha... |
ORPHA:137599 |
Kniest Dysplasia |
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Genu varum, Dumbbell-shaped long bone, Splayed epiphyses, Coxa vara, Hip contracture, Tibial bowi... |
OMIM:156550 |
Hurler Syndrome |
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Mucopolysacchariduria, Corneal opacity |
ORPHA:93473 |
Anterior Segment Dysgenesis 3 |
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Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... |
OMIM:601631 |
Anterior Segment Dysgenesis 6 |
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Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
OMIM:617315 |
Alport Syndrome 2, Autosomal Recessive |
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Glomerular basement membrane lamellation, Corneal erosion, Nephrotic syndrome, Stage 5 chronic ki... |
OMIM:203780 |
Mucopolysaccharidosis, Type X |
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Dermatan sulfate excretion in urine, Nephrolithiasis |
OMIM:619698 |
Congenital Disorder Of Deglycosylation 1 |
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Chondroitin sulfate excretion in urine, 3-Methylglutaconic aciduria, Keratan sulfate excretion in... |
OMIM:615273 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Conjunctivitis, Nephrotic syndrome, Enlarged kidney, Proteinuria, Urinary glycosaminoglycan excre... |
ORPHA:505248 |
Corneal Dystrophy, Reis-Bucklers Type |
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Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy |
OMIM:608470 |
Lethal Kniest-Like Dysplasia |
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Abnormality of the ischium, Wide anterior fontanel, Hypoplastic ilia, Abnormal cartilage matrix, ... |
ORPHA:2347 |
Granular Corneal Dystrophy Type Ii |
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Granular corneal dystrophy, Central opacification of the cornea, Corneal crystals, Subepithelial ... |
ORPHA:98963 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
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Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Mucolipidosis Ii Alpha/Beta |
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Enlarged kidney, Opacification of the corneal stroma, Megalocornea, Mucopolysacchariduria |
OMIM:252500 |
Granular Corneal Dystrophy Type I |
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Central corneal dystrophy, Abnormal corneal epithelium morphology, Central opacification of the c... |
ORPHA:98962 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
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Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
X-Linked Endothelial Corneal Dystrophy |
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Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
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Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... |
ORPHA:293603 |
Peters Anomaly |
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Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
Atelosteogenesis, Type Ii |
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Bifid humerus, Flat acetabular roof, Hitchhiker thumb, Abnormal pelvic girdle bone morphology, La... |
OMIM:256050 |
Anterior Segment Dysgenesis 1 |
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Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... |
OMIM:107250 |
Macular Corneal Dystrophy |
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Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Decreased corneal ... |
ORPHA:98969 |
Epithelial Recurrent Erosion Dystrophy |
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Irregular astigmatism, Corneal scarring, Keratoconjunctivitis sicca, Subepithelial corneal opacit... |
ORPHA:293381 |
Autosomal Dominant Keratitis |
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Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... |
ORPHA:2334 |
Limbal Stem Cell Deficiency |
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Opacification of the corneal epithelium, Generalized opacification of the cornea, Corneal scarrin... |
ORPHA:171673 |
Familial Calcium Pyrophosphate Deposition |
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Calcification of cartilage |
ORPHA:1416 |
Cartilage-Hair Hypoplasia |
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Mucopolysacchariduria |
ORPHA:175 |
Corneal Dystrophy, Posterior Amorphous |
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Iris coloboma, Corneal dystrophy, Ectopia pupillae |
OMIM:612868 |
Mucopolysaccharidosis, Type Vi |
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Dermatan sulfate excretion in urine, Corneal opacity |
OMIM:253200 |
Mucopolysaccharidosis, Type Iiid |
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Heparan sulfate excretion in urine |
OMIM:252940 |
Rutherfurd Syndrome |
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Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Anterior Segment Dysgenesis 2 |
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Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
Edict Syndrome |
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Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus |
OMIM:614303 |
Vernal Keratoconjunctivitis |
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Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Corneal neovascu... |
ORPHA:70476 |
Carpenter Syndrome |
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Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial foot polydactyly, Syndactyl... |
ORPHA:65759 |
Fuchs Endothelial Corneal Dystrophy |
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Reduced number of corneal endothelial cells, Abnormal Descemet membrane morphology, Corneal opaci... |
ORPHA:98974 |
Mucopolysaccharidosis Type 2, Severe Form |
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Dermatan sulfate excretion in urine, Corneal opacity, Heparan sulfate excretion in urine |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Dermatan sulfate excretion in urine, Corneal opacity, Heparan sulfate excretion in urine |
ORPHA:217093 |
Spondyloepiphyseal Dysplasia Tarda |
|
Finger swelling, Coxa vara, Short femoral neck, Flattened femoral head, Enlarged epiphyses of the... |
ORPHA:93284 |
Gm1 Gangliosidosis Type 1 |
|
Increased urinary galactosylated oligosaccharide, Urinary glycosaminoglycan excretion |
ORPHA:79255 |
Generalized Eruptive Keratoacanthoma |
|
Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca |
ORPHA:411777 |
Multiple Osteochondromas |
|
Deformed radius, Genu valgum, Coxa valga, Abnormal carpal morphology, Femoroacetabular impingemen... |
ORPHA:321 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Abnormal cartilage matrix, Epiphyseal stippling, Short distal phalanx of finger, Short metacarpal |
ORPHA:86822 |
Brittle Cornea Syndrome 1 |
|
Keratoglobus, Congenital hip dislocation, Abnormal cornea morphology, Decreased corneal thickness... |
OMIM:229200 |
Iridocorneal Endothelial Syndrome |
|
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... |
ORPHA:64734 |
Keutel Syndrome |
|
Short distal phalanx of finger, Calcification of cartilage |
ORPHA:85202 |
Juvenile Idiopathic Arthritis |
|
Cartilage destruction, Abnormal sacroiliac joint morphology |
ORPHA:92 |
Juvenile Nephropathic Cystinosis |
|
Abnormal urine potassium concentration, Aminoaciduria, Proximal tubulopathy, Renal phosphate wast... |
ORPHA:411634 |
Adult-Onset Still Disease |
|
Cartilage destruction |
ORPHA:829 |
Moderate Hemophilia A |
|
Cartilage destruction, Hip contracture |
ORPHA:169805 |
Tracheobronchopathia Osteochondroplastica |
|
Calcification of cartilage |
ORPHA:3348 |
Encephalocraniocutaneous Lipomatosis |
|
Iris coloboma, Corneal opacity, Abnormal cartilage morphology |
ORPHA:2396 |
Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Corneal crystals, Abnormal tubulointerstitial morph... |
ORPHA:411629 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Short phalanx of finger, Hip subluxation, Wide anterior fontanel, Triangular shaped distal phalan... |
OMIM:271665 |
Alkaptonuria |
|
Cartilage destruction, Calcification of cartilage |
ORPHA:56 |
Reactive Arthritis |
|
Conjunctivitis, Cartilage destruction |
ORPHA:29207 |