Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
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Punctate corneal dystrophy |
OMIM:183850 |
Corneal Dystrophy, Band-Shaped |
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Band-shaped corneal dystrophy |
OMIM:217500 |
Anterior Segment Dysgenesis 6 |
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Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Corneal Dystrophy, Lisch Epithelial |
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Corneal dystrophy |
OMIM:300778 |
Vernal Keratoconjunctivitis |
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Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
Cornea Plana 1, Autosomal Dominant |
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Flat cornea |
OMIM:121400 |
Limbal Stem Cell Deficiency |
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Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Autosomal Dominant Keratitis |
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Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
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Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Gelatinous Drop-Like Corneal Dystrophy |
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Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
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Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
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 |
Corneal Dystrophy, Endothelial, X-Linked |
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Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Dermoids Of Cornea |
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Corneal opacity |
OMIM:304730 |
Atopic Keratoconjunctivitis |
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Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
Multiple Symmetric Lipomatosis |
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Multiple lipomas, Abnormal adipose tissue morphology |
ORPHA:2398 |
Xeroderma Pigmentosum, Complementation Group D |
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Cataract, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Corneal neovascu... |
OMIM:278730 |
Palmoplantar Carcinoma, Multiple Self-Healing |
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Corneal neovascularization, Limbal stem cell deficiency |
OMIM:615225 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
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Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Aniridia 1 |
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Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Autoinflammation With Arthritis And Dyskeratosis |
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Keratoconjunctivitis sicca, Corneal neovascularization, Punctate keratitis |
OMIM:617388 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
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Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Placental Insufficiency |
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Abnormal placenta morphology, Abnormal umbilical cord blood vessel morphology, Small for gestatio... |
ORPHA:439167 |
Membranoproliferative Glomerulonephritis, X-Linked |
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Lipodystrophy |
OMIM:305800 |
Mucoepithelial Dysplasia, Hereditary |
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Cataract, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Corneal neovasculari... |
OMIM:158310 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
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Omphalocele, Small for gestational age, Polyhydramnios, Large for gestational age, Large placenta... |
ORPHA:254534 |
Corneal Endothelial Dystrophy |
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Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Silver-Russell Syndrome Due To A Point Mutation |
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Inguinal hernia, Small for gestational age, Small placenta, Oligohydramnios |
ORPHA:397590 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
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Small for gestational age, Low anterior hairline, Low posterior hairline, Truncal obesity, Small ... |
ORPHA:73272 |
Kid Syndrome |
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Keratitis, Corneal erosion, Keratoconjunctivitis sicca, Conjunctivitis, Corneal neovascularizatio... |
ORPHA:477 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
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Corneal opacity, Cerebral hemorrhage, Polycoria, Retinal hemorrhage, Developmental cataract, Micr... |
OMIM:175780 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
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Corneal neovascularization, Corneal scarring |
ORPHA:404454 |
22Q11.2 Deletion Syndrome |
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Gastrointestinal hemorrhage, Cataract, Posterior embryotoxon, Corneal neovascularization, Hyperte... |
ORPHA:567 |
Warburg-Cinotti Syndrome |
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Corneal neovascularization, Limbal stem cell deficiency, Symblepharon, Decreased corneal thickness |
OMIM:618175 |
Lacrimoauriculodentodigital Syndrome |
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Increased corneal thickness, Keratoconjunctivitis, Keratoconjunctivitis sicca, Recurrent corneal ... |
ORPHA:2363 |
Fetal Akinesia Deformation Sequence 1 |
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Hip contracture, Decreased fetal movement, Premature birth, Elbow contracture, Camptodactyly of f... |
OMIM:208150 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
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Omphalocele, Inguinal hernia, Polyhydramnios, Large placenta, Flexion contracture, Camptodactyly,... |
ORPHA:254528 |
Restrictive Dermopathy |
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Decreased fetal movement, Multiple joint contractures, Premature birth, Camptodactyly of finger, ... |
ORPHA:1662 |
Neu-Laxova Syndrome 1 |
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Decreased fetal movement, Polyhydramnios, Fetal akinesia sequence, Spina bifida, Absent eyelashes... |
OMIM:256520 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Keratitis, Hypertension, Recurrent corneal erosions, Opacification of the corneal stroma, Corneal... |
OMIM:308205 |
Kagami-Ogata Syndrome |
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Omphalocele, Inguinal hernia, Premature birth, Polyhydramnios, Large for gestational age, Large p... |
ORPHA:254519 |
Trichohepatoenteric Syndrome 1 |
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Curly hair, Brittle hair, Small for gestational age, Polyhydramnios, Large placenta, Abnormalitie... |
OMIM:222470 |
Restrictive Dermopathy 1 |
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Spontaneous chorioamniotic separation, Decreased fetal movement, Limb joint contracture, Prematur... |
OMIM:275210 |
Beckwith-Wiedemann Syndrome |
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Omphalocele, Inguinal hernia, Premature birth, Polyhydramnios, Congenital diaphragmatic hernia, L... |
ORPHA:116 |
Meckel Syndrome, Type 1 |
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Omphalocele, Occipital encephalocele, Camptodactyly of finger, Breech presentation, Large placent... |
OMIM:249000 |
Mosaic Trisomy 16 |
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Small for gestational age, Large placenta, Single umbilical artery, Premature birth |
ORPHA:1708 |
Greenberg Dysplasia |
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Nonimmune hydrops fetalis, Polyhydramnios, Echogenic fetal bowel, Large placenta, Increased nucha... |
OMIM:215140 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
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Omphalocele, Premature birth, Interphalangeal joint contracture of finger, Polyhydramnios, Large ... |
ORPHA:96334 |