Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal astigmatism, Conjunctival de... |
OMIM:180550 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Band keratopathy, Corneal dystrophy |
OMIM:300779 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Median cleft palate, Microcornea, Recurrent respiratory infections |
ORPHA:2432 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Lipoma Of The Conjunctiva |
|
Conjunctival lipoma |
OMIM:151700 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Central corneal dystrophy, Recurrent corneal erosions, Opacifica... |
ORPHA:98960 |
Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Abnormal cornea morphology, Corneal opacity, Subepithelial corneal opacities, C... |
ORPHA:98964 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal opacity, Palpebral edema, Opacification of the corneal stroma, Corneal erosion, Corneal d... |
OMIM:608470 |
Schnyder Corneal Dystrophy |
|
Crystalline corneal dystrophy, Corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
|
Corneal dystrophy, Central corneal dystrophy |
OMIM:217600 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Cataract, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis |
ORPHA:1067 |
X-Linked Corneal Dermoid |
|
Corneal opacity, Abnormal pupil morphology |
ORPHA:1661 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Atopic Keratoconjunctivitis |
|
Keratitis, Blepharitis, Corneal opacity, Corneal neovascularization, Chemosis, Loss of eyelashes,... |
ORPHA:163934 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Opacification o... |
OMIM:136120 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy |
OMIM:217800 |
Corneal Degeneration, Ribbonlike, With Deafness |
|
Band keratopathy, Ribbonlike corneal degeneration |
OMIM:121450 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia |
OMIM:148200 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Cataract, Corneal arcus |
OMIM:618463 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Decreased HDL cholesterol concentration, H... |
OMIM:620058 |
Limbal Stem Cell Deficiency |
|
Keratitis, Corneal scarring, Generalized opacification of the cornea, Corneal perforation, Blepha... |
ORPHA:171673 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Corneal opacity, Posterior embryotoxon, Bilateral cleft lip and palate, Iris coloboma, Cataract, ... |
ORPHA:1473 |
Immunodeficiency, Common Variable, 3 |
|
Decreased circulating IgA level, Reduced isohemagglutinin level, Recurrent bacterial infections, ... |
OMIM:613493 |
Pterygium Of Conjunctiva And Cornea |
|
Pterygium, Abnormal conjunctiva morphology |
OMIM:178000 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Cataract, Cleft palate |
ORPHA:90654 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Corneal opacity, Ectropion, Thick eyebrow, Long palpebral fissure, Downslanted palpebr... |
OMIM:602562 |
Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
Rotor Syndrome |
|
Conjunctival icterus, Conjugated hyperbilirubinemia, Hyperbilirubinemia |
ORPHA:3111 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Ankyloblepharon, Popliteal pterygium, Bilateral cleft lip and palate, Axillary p... |
OMIM:619339 |
X-Linked Endothelial Corneal Dystrophy |
|
Corneal opacity, Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate... |
ORPHA:70476 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Corneal opacity, Band keratopathy, Thinning of Descemet membrane, Abnormal Descemet membrane morp... |
OMIM:122000 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Astigmatism, Iridodonesis, Cataract, Ir... |
OMIM:309300 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Malignant Atrophic Papulosis |
|
Gastrointestinal infarctions, Gastrointestinal hemorrhage, Abnormal conjunctiva morphology |
OMIM:602248 |
Gómez-López-Hernández Syndrome |
|
Telecanthus, Corneal opacity |
ORPHA:1532 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Corneal opacity, Irregular astigmatism, Corneal stromal edema, Abnormal Descemet membrane morphol... |
ORPHA:293603 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Opacification of the cornea... |
ORPHA:98963 |
Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Opacification of the corneal stroma, Corneal dystrophy, Abnormal Des... |
OMIM:217700 |
Peters Anomaly |
|
Subcapsular cataract, Central opacification of the cornea, Thinning of Descemet membrane, Opacifi... |
ORPHA:708 |
Epithelial Recurrent Erosion Dystrophy |
|
Corneal scarring, Subepithelial corneal opacities, Irregular astigmatism, Recurrent corneal erosi... |
ORPHA:293381 |
Mannosidosis, Beta A, Lysosomal |
|
Tortuosity of conjunctival vessels, Recurrent infections |
OMIM:248510 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal neovascularization, Developmental... |
OMIM:617315 |
Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Posterior synechiae o... |
OMIM:610256 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Ectropion, Dysphagia, Keratoconjunctivitis sicca, Conjunctivitis |
ORPHA:411777 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microcornea, Cataract, Ocular anterior segment dysgenesis, Sclerocornea |
OMIM:269400 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity, Cleft palate, Upslanted palpebral fissure, Aplasia/Hypoplasia of the eyebrow, Sp... |
ORPHA:1794 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Central opacification of the cornea, Central corneal dystrophy, ... |
ORPHA:98962 |
Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Ectopia pupillae, Corneal opacity |
OMIM:608484 |
Anterior Segment Dysgenesis 5 |
|
Posterior embryotoxon, Microcornea, Peters anomaly, Rieger anomaly, Hypoplasia of the iris, Devel... |
OMIM:604229 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal stromal edema, Descemet Membrane Folds, Corneal degeneration, Corneal dystrophy, Corneal ... |
OMIM:136800 |
Mucolipidosis Iv |
|
Achlorhydria, Opacification of the corneal stroma, Corneal opacity |
OMIM:252650 |
Mucolipidosis Type Iii |
|
Corneal opacity, Cleft palate |
ORPHA:577 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Corneal opacity, Sparse eyebrow, Recurrent upper respiratory tract infections, Lipomas of eyelids... |
ORPHA:2399 |
Macular Corneal Dystrophy |
|
Punctate opacification of the cornea, Opacification of the corneal stroma, Recurrent corneal eros... |
ORPHA:98969 |
Fuchs Endothelial Corneal Dystrophy |
|
Corneal opacity, Reduced number of corneal endothelial cells, Abnormal corneal endothelium morpho... |
ORPHA:98974 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
High palate, Epicanthus, Conjunctival hyperemia |
OMIM:619548 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
Frontofacionasal Dysplasia |
|
Cleft palate, Absent inner eyelashes, Aplasia/Hypoplasia of the eyebrow, Upper eyelid coloboma, L... |
ORPHA:1791 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Corneal opacity, Upslanted palpebral fissure, Myopic astigmatism, Microcornea, Astigmatism, Downs... |
OMIM:152950 |
Posterior Polymorphous Corneal Dystrophy |
|
Corneal opacity, Abnormal Descemet membrane morphology, Corneal stromal edema, Ectopia pupillae, ... |
ORPHA:98973 |
Microphthalmia, Isolated 3 |
|
Ankyloblepharon, Sclerocornea |
OMIM:611038 |
Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... |
ORPHA:2334 |
Bartsocas-Papas Syndrome |
|
Corneal opacity, Ankyloblepharon, Cleft palate, Aplasia/Hypoplasia of the eyebrow, Sparse or abse... |
ORPHA:1234 |
Dermatopathia Pigmentosa Reticularis |
|
Abnormal conjunctiva morphology |
OMIM:125595 |
Brittle Cornea Syndrome 2 |
|
Flat cornea, Megalocornea, Keratoconus, Keratoglobus, Sclerocornea, Decreased corneal thickness |
OMIM:614170 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Opacification of the corneal stroma |
OMIM:245900 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Opacification of the corneal stroma, Microcornea, Peters anomaly, Ocula... |
OMIM:107250 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Congenital Primary Aphakia |
|
Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye |
ORPHA:83461 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Neonatal h... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Neonatal h... |
ORPHA:529799 |
Alpha-Mannosidosis |
|
Corneal opacity, Narrow palate, Macroglossia, Cataract, Recurrent respiratory infections |
ORPHA:61 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Developmental cataract |
OMIM:618815 |
Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
Xp22.3 Microdeletion Syndrome |
|
Ectopic anus, Opacification of the corneal stroma |
ORPHA:1643 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microcornea, Iris coloboma, Narrow palpebral fissure, Ocular anterior segment dysgenesis, Scleroc... |
OMIM:615145 |
Amoebic Keratitis |
|
Corneal perforation, Corneal ulceration, Abnormal cornea morphology, Abnormal anterior chamber mo... |
ORPHA:67043 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Blepharitis, Corneal opacity, Sparse eyebrow, Sparse eyelashes, Curly eyelashes |
OMIM:602400 |
Erythrokeratodermia Variabilis |
|
Corneal opacity, Cataract |
ORPHA:317 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microcornea, Cataract, Corneal dystrophy, Keratoconjunctivitis sicca, Recurrent respiratory infec... |
ORPHA:1806 |
Heme Oxygenase 1 Deficiency |
|
Increased circulating ferritin concentration, Increased circulating interleukin 6 concentration, ... |
OMIM:614034 |
Harel-Yoon Syndrome |
|
Corneal opacity, Developmental cataract, Upslanted palpebral fissure |
OMIM:617183 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Corneal opacity, Elevated circulating creatine kinase concentration, Cataract |
OMIM:613153 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Abnormal stomach morphology |
ORPHA:281090 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein AI concentration, Hypertriglyceridemia, Corneal opacity, Dec... |
ORPHA:650 |
Proteus Syndrome |
|
Downslanted palpebral fissures, Limbal dermoid, Ptosis |
OMIM:176920 |
Alpha-Mannosidosis, Adult Form |
|
Recurrent gastroenteritis, Corneal opacity, Macroglossia, Cataract, Recurrent infections |
ORPHA:309288 |
Fish-Eye Disease |
|
Corneal opacity, Decreased HDL cholesterol concentration |
ORPHA:79292 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Sparse eyebrow, Upper eyelid coloboma, Absent lacrimal punctum, Lipomas of eyelids, Ectopic lacri... |
OMIM:167730 |
Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
Sclerocornea, Autosomal Dominant |
|
Sclerocornea |
OMIM:181700 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Bitot spots of the conjunctiva |
OMIM:277350 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Corneal opacity, Aplasia/Hypoplasia of the iris |
ORPHA:137902 |
Nasolacrimal Duct Cyst |
|
Abnormal lacrimal sac morphology, Corneal astigmatism, Chronic irritative conjunctivitis, Dacryoc... |
ORPHA:141083 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent bacterial infections, Panhypogammaglobulinemia, Recurrent sinusitis, Rectal abscess, Re... |
OMIM:601495 |
8Q21.11 Microdeletion Syndrome |
|
High palate, Corneal opacity, Downslanted palpebral fissures, Iris hypopigmentation, Epicanthus, ... |
ORPHA:284160 |
Ophthalmomandibulomelic Dysplasia |
|
Corneal opacity, Megalocornea |
ORPHA:2741 |
Radial Heads, Posterior Dislocation Of |
|
Antecubital pterygium |
OMIM:179200 |
Short Syndrome |
|
Corneal opacity, Abnormal pupil morphology, Abnormal anterior chamber morphology, Megalocornea, P... |
ORPHA:3163 |
Zellweger Syndrome |
|
High palate, Malabsorption, Corneal opacity, Upslanted palpebral fissure, Posterior embryotoxon, ... |
ORPHA:912 |
Norrie Disease |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Opacification of the corneal stroma, Hypo... |
OMIM:310600 |
Pterygium, Antecubital |
|
Antecubital pterygium |
OMIM:178200 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Telecanthus, Corneal opacity, Aniridia, Developmental glaucoma |
ORPHA:1064 |
Lowry-Maclean Syndrome |
|
Corneal opacity, High, narrow palate, Cleft palate, Megalocornea, Pyloric stenosis, Downslanted p... |
ORPHA:2409 |
Congenital Rubella Syndrome |
|
Corneal opacity, Aplasia/Hypoplasia of the iris, Cataract |
ORPHA:290 |
Sialidosis Type 2 |
|
Corneal opacity |
ORPHA:87876 |
Sanjad-Sakati Syndrome |
|
Corneal opacity, Hypocalcemia, Astigmatism, Intestinal obstruction, Hyperphosphatemia, Recurrent ... |
ORPHA:2323 |
Toriello-Lacassie-Droste Syndrome |
|
Short palpebral fissure, Limbal dermoid, Telecanthus, Abnormal conjunctiva morphology, Epicanthus... |
ORPHA:3339 |
Scheie Syndrome |
|
Corneal opacity |
OMIM:607016 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity |
OMIM:166300 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Corneal arcus, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Iris coloboma, Cataract, Leu... |
OMIM:221900 |
Cystinosis |
|
Malabsorption, Hypophosphatemia, Corneal opacity, Hypokalemia |
ORPHA:213 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Sjogren-Larsson Syndrome |
|
Opacification of the corneal epithelium, Astigmatism |
OMIM:270200 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Corneal opacity, Cataract, Upslanted palpebral fissure |
ORPHA:496790 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
Oculoauriculofrontonasal Syndrome |
|
Upper eyelid coloboma, Limbal dermoid, Cleft palate |
ORPHA:398156 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Corneal arcus, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Mietens Syndrome |
|
Corneal opacity, Cataract, Microcornea, Sclerocornea |
ORPHA:2557 |
Hurler-Scheie Syndrome |
|
Corneal opacity |
ORPHA:93476 |
Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Developmental cataract |
OMIM:616603 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Corneal arcus, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Corneal opacity, Elevated circulating creatine kinase concentration, Astigmatism, Downslanted pal... |
OMIM:301056 |
Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
3Q29 Microduplication Syndrome |
|
High palate, Ectopic anus, Cleft palate, Downslanted palpebral fissures, Iris coloboma, Cataract,... |
ORPHA:251038 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
Walker-Warburg Syndrome |
|
Corneal opacity, Cleft palate, Microcornea, Bifid uvula, Abnormal circulating creatine kinase con... |
ORPHA:899 |
Isolated Congenital Alacrima |
|
Keratitis, Lacrimal gland hypoplasia, Lacrimal punctal atresia, Distichiasis, Corneal erosion, Co... |
ORPHA:91416 |
Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity |
ORPHA:2788 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
High palate, Spherophakia, Shallow anterior chamber, Bifid uvula, Downslanted palpebral fissures,... |
OMIM:601552 |
Distal Monosomy 6P |
|
Corneal opacity, Abnormal anterior chamber morphology, Ectopia pupillae, Posterior embryotoxon, D... |
ORPHA:96125 |
Familial Dysautonomia |
|
Corneal opacity, Gastroesophageal reflux, Abnormal pupil morphology, Corneal erosion, Hyponatremi... |
ORPHA:1764 |
Microphthalmia With Brain And Digit Anomalies |
|
High palate, Microcornea, Iris coloboma, Cataract, Sclerocornea |
ORPHA:139471 |
3Mc Syndrome 3 |
|
Corneal opacity, Cleft palate, Epicanthus inversus, Blepharophimosis, Highly arched eyebrow, Ptosis |
OMIM:248340 |
Apolipoprotein A-I Deficiency |
|
Decreased HDL cholesterol concentration, Opacification of the corneal stroma, Xanthelasma, Abnorm... |
ORPHA:425 |
Proboscis Lateralis |
|
High palate, Abnormal eyebrow morphology, Corneal opacity, Unilateral narrow palpebral fissure, A... |
ORPHA:141099 |
Hereditary Bullous Dystrophy, Macular Type |
|
Corneal opacity, Cataract |
ORPHA:1867 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome |
|
Corneal opacity, Downslanted palpebral fissures, Cataract, Aniridia, Ptosis |
OMIM:612469 |
Al-Gazali Syndrome |
|
Corneal opacity, Recurrent pneumonia, Sclerocornea |
OMIM:609465 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
High palate, Anal atresia, Short palpebral fissure, Axenfeld anomaly, Posterior embryotoxon, Opac... |
OMIM:612582 |
Tangier Disease |
|
Cicatricial ectropion, Ectropion, Decreased HDL cholesterol concentration, Opacification of the c... |
OMIM:205400 |
Muckle-Wells Syndrome |
|
Elevated circulating C-reactive protein concentration, Conjunctivitis, Conjunctival hyperemia |
OMIM:191900 |
Stromme Syndrome |
|
Duodenal atresia, Cleft palate, Intestinal malrotation, Microcornea, Peters anomaly, Iris colobom... |
OMIM:243605 |
Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
Aniridia 1 |
|
Ptosis, Corneal neovascularization, Ectopia pupillae, Opacification of the corneal stroma, Bilate... |
OMIM:106210 |
Mucoepithelial Dysplasia, Hereditary |
|
Melena, Corneal neovascularization, Keratoconjunctivitis, Opacification of the corneal stroma, Ch... |
OMIM:158310 |
Oculocerebrocutaneous Syndrome |
|
Corneal opacity, Eyelid coloboma, Iris coloboma, Ptosis |
ORPHA:1647 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Anterior chamber synechiae, Opacification of the corneal stroma, Microcornea, Telecanthus, Anal s... |
OMIM:601499 |
Hypercholesterolemia, Familial, 1 |
|
Corneal arcus, Increased LDL cholesterol concentration, Xanthelasma |
OMIM:143890 |
Oculoauricular Syndrome |
|
Microphakia, Posterior embryotoxon, Microcornea, Iris coloboma, Cataract, Iris cyst, Ocular anter... |
OMIM:612109 |
Juvenile Sialidosis Type 2 |
|
Dysphagia, Corneal opacity, Protruding tongue, Cataract |
ORPHA:93399 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Ectropion, Congenital pyloric atresia, Axillary pterygium, Elevated maternal serum alpha-fetoprot... |
OMIM:226730 |
Sialidosis Type 1 |
|
Corneal opacity, Cataract |
ORPHA:812 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cryptophthalmos, Ectopia pupillae, Microcornea, Epicanthus, Long eyelashes, Cataract, Sclerocornea |
OMIM:615877 |
Mucopolysaccharidoses, Unclassified Types |
|
Opacification of the corneal stroma |
OMIM:252700 |
Persistent Hyperplastic Primary Vitreous |
|
Corneal opacity, Shallow anterior chamber, Buphthalmos, Microcornea, Cataract, Developmental cata... |
ORPHA:91495 |
Axial Mesodermal Dysplasia Spectrum |
|
Anal atresia, Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, T... |
ORPHA:1834 |
Brachymesomelia-Renal Syndrome |
|
Blepharophimosis, Opacification of the corneal stroma, Short palpebral fissure |
OMIM:113470 |
Mucolipidosis Iii Gamma |
|
Increased serum beta-hexosaminidase, Opacification of the corneal stroma |
OMIM:252605 |
Fryns Syndrome |
|
High palate, Anal atresia, Ectopic anus, Duodenal atresia, Gastroesophageal reflux, Corneal opaci... |
ORPHA:2059 |
Rodrigues Blindness |
|
Microcornea, Sclerocornea |
OMIM:268320 |
Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity, Abnormal intestine morphology, Hyperlipidemia, Recurrent infections |
ORPHA:1830 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy |
OMIM:221800 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Corneal crystals |
OMIM:219750 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Tracheoesophageal fistula, Iris coloboma, Esophageal atresia, Sclerocornea |
ORPHA:77298 |
Chromosome 8Q21.11 Deletion Syndrome |
|
High palate, Short palpebral fissure, Cleft palate, Downslanted palpebral fissures, Epicanthus, C... |
OMIM:614230 |
Lichen Planopilaris |
|
Pterygium, Abnormal intestine morphology |
ORPHA:525 |
Hurler Syndrome |
|
Corneal opacity, Macroglossia, Opacification of the corneal stroma, Bilateral ptosis, Recurrent o... |
OMIM:607014 |
Gm1 Gangliosidosis |
|
Corneal opacity, Gastroesophageal reflux, Macroglossia, Infectious encephalitis, Dysphagia, Recur... |
ORPHA:354 |
Tularemia |
|
Increased circulating antibody level, Brain abscess, Meningitis, Conjunctivitis, Conjunctival hyp... |
ORPHA:3392 |
Encephalocraniocutaneous Lipomatosis |
|
Abnormal anterior chamber morphology, Limbal dermoid, Hypoplasia of the iris, Eyelid coloboma, Sc... |
OMIM:613001 |
Hurler-Scheie Syndrome |
|
Corneal opacity, Recurrent respiratory infections |
OMIM:607015 |
Congenital Sialidosis Type 2 |
|
Corneal opacity, Developmental cataract, Protruding tongue, Cataract |
ORPHA:93400 |
Multiple Sulfatase Deficiency |
|
Thick eyebrow, Corneal opacity, Cataract |
ORPHA:585 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Gorlin-Chaudhry-Moss Syndrome |
|
Upper eyelid coloboma, Abnormal eyelid morphology, Sclerocornea, Astigmatism |
ORPHA:2095 |
Mucopolysaccharidosis, Type Vii |
|
Corneal opacity, Thick eyebrow, Macroglossia, Recurrent upper respiratory tract infections, Recur... |
OMIM:253220 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Tortuosity of conjunctival vessels, Cataract, Ptosis |
ORPHA:284289 |
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
|
Sparse eyelashes, Opacification of the corneal stroma, Downslanted palpebral fissures, Distichias... |
OMIM:211370 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Elevated circulating long chain fatty acid concentration, Cleft palate, Upslanted palpebral fissu... |
OMIM:214110 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity, Short palpebral fissure, Cleft palate, Thin eyebrow, Telecanthus, Synophrys, Mic... |
ORPHA:364577 |
Farber Disease |
|
Abnormal conjunctiva morphology, Recurrent upper respiratory tract infections, Opacification of t... |
ORPHA:333 |
Moebius Syndrome |
|
High palate, Blepharitis, Corneal opacity, Aplasia/Hypoplasia of the tongue, Cleft palate, Epican... |
ORPHA:570 |
Mucolipidosis Type Iv |
|
Corneal opacity |
ORPHA:578 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Conjunctival whitish salt-like deposits, Hyperphosphatemia |
OMIM:211900 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity, Sepsis, Smooth tongue, Decreased circulating antibody level, Recurrent infection... |
ORPHA:79396 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyelashes, Absent eyebrow, Cleft palate, Conjunctival hyperemia |
ORPHA:2890 |
Paroxysmal Hemicrania |
|
Palpebral edema, Ptosis, Conjunctival hyperemia |
ORPHA:157835 |
Autoimmune Polyendocrinopathy Type 1 |
|
Opacification of the corneal stroma, Chronic mucocutaneous candidiasis, Cataract |
ORPHA:3453 |
Cirrhotic Cardiomyopathy |
|
Abnormal A-type atrial natriuretic peptide level, Increased circulating NT-proBNP concentration, ... |
ORPHA:57777 |
Mucopolysaccharidosis Type 7 |
|
Corneal opacity, Recurrent respiratory infections |
ORPHA:584 |
Spondylospinal Thoracic Dysostosis |
|
Multiple pterygia |
OMIM:601809 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Decreased circulating IgA level, Opacification of the corneal stroma |
OMIM:215250 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal opacity, Gastroesophageal reflux, Sparse eyebrow, Buphthalmos, Broad eyebrow, Long eyelas... |
ORPHA:495875 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Anal atresia, Corneal opacity, Cleft palate, Buphthalmos, Elevated circulating creatine kinase co... |
OMIM:236670 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Corneal ulceration, Corneal scarring, Opacification of the corneal stroma, Recurrent c... |
OMIM:256800 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Increased circulating ferritin concentration, Conjunctival icterus |
OMIM:194380 |
Oculotrichoanal Syndrome |
|
Cryptophthalmos, Upper eyelid coloboma, Nasolacrimal duct obstruction, Anal stenosis, Anteriorly ... |
ORPHA:2717 |
Galactosialidosis |
|
Opacification of the corneal stroma, Conjunctival telangiectasia |
OMIM:256540 |
Kindler Epidermolysis Bullosa |
|
Corneal opacity, Colitis, Ectropion, Inflammation of the large intestine, Esophageal stricture, E... |
ORPHA:2908 |
Coloboma, Ocular, Autosomal Dominant |
|
Peters anomaly, Corneal opacity |
OMIM:120200 |
Tbck-Related Intellectual Disability Syndrome |
|
Corneal opacity, Thick eyebrow, High, narrow palate, Macroglossia, Abnormal circulating lipid con... |
ORPHA:488632 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Corneal opacity, Ectropion, Ocular albinism, Iris hypopigmentation, Cataract |
ORPHA:2719 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
High palate, Multiple pterygia, Cleft palate, Morphological abnormality of the gastrointestinal t... |
ORPHA:2990 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Keratitis, Blepharitis, Corneal opacity, Absent eyebrow, Abnormal nasolacrimal system morphology,... |
ORPHA:2273 |
Mosaic Variegated Aneuploidy Syndrome |
|
Duodenal atresia, Corneal opacity, Cleft palate, Stomach cancer, Downslanted palpebral fissures, ... |
ORPHA:1052 |
Scheie Syndrome |
|
Corneal opacity |
ORPHA:93474 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Keratitis, Absent eyebrow, Cleft palate, Opacification of the corneal stroma, Recurrent corneal e... |
OMIM:308205 |
Mosaic Trisomy 9 |
|
High palate, Corneal opacity, Cleft palate, Upslanted palpebral fissure, Intestinal malrotation |
ORPHA:99776 |
Bartsocas-Papas Syndrome 1 |
|
Corneal ulceration, Anal atresia, Ablepharon, Ectropion, Ankyloblepharon, Cleft palate, Upslanted... |
OMIM:263650 |
De Barsy Syndrome |
|
High palate, Corneal opacity, Downslanted palpebral fissures, Epicanthus, Cataract, Recurrent sin... |
ORPHA:2962 |
Zygomycosis |
|
Unusual skin infection, Melena, Colitis, Gastritis, Unusual gastrointestinal infection, Ileitis, ... |
ORPHA:73263 |
Mucopolysaccharidosis Type 1 |
|
Malabsorption, Corneal opacity, Recurrent respiratory infections |
ORPHA:579 |
Congenital Disorder Of Deglycosylation 1 |
|
Corneal ulceration, Corneal opacity, Impaired oropharyngeal swallow response, Elevated alpha-feto... |
OMIM:615273 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Elevated circulating creatine kinase concentration, Opacification of the corneal stroma |
OMIM:615287 |
Caroli Syndrome |
|
Melena, Cholangiocarcinoma, Hematemesis, Hyperbilirubinemia, Sepsis, Conjunctival icterus, Conjug... |
ORPHA:480520 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
Alpha-Mannosidosis, Infantile Form |
|
Recurrent gastroenteritis, Corneal opacity, Macroglossia, Recurrent urinary tract infections, Ast... |
ORPHA:309282 |
Mucopolysaccharidosis Type 3 |
|
Malabsorption, Corneal opacity, Macroglossia, Recurrent tonsillitis, Opacification of the corneal... |
ORPHA:581 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hypophosphatemic rickets, Corneal opacity |
OMIM:163200 |
Gomez-Lopez-Hernandez Syndrome |
|
High palate, Opacification of the corneal stroma, Downslanted palpebral fissures |
OMIM:601853 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cleft palate, Palpebral edema, Opacification of the corneal stroma, Epicanthus, Cataract, Brushfi... |
OMIM:614866 |
Hurler Syndrome |
|
Macroglossia, Thick eyebrow, Corneal opacity, Recurrent respiratory infections |
ORPHA:93473 |
Proteus-Like Syndrome |
|
Abnormal pupil morphology, Limbal dermoid, Downslanted palpebral fissures, Cataract, Heterochromi... |
ORPHA:2969 |
Oculoectodermal Syndrome |
|
Opacification of the corneal stroma, Limbal dermoid, Microcornea, Astigmatism, Epicanthus, Eyelid... |
OMIM:600268 |
Sunct Syndrome |
|
Palpebral edema, Ptosis, Conjunctival hyperemia |
ORPHA:57145 |
Mucolipidosis Iii Alpha/Beta |
|
Increased serum beta-hexosaminidase, Hyperopic astigmatism, Opacification of the corneal stroma |
OMIM:252600 |
Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Lens subluxation, Corneal opacity, Hypotriglyceridemia |
ORPHA:85167 |
Caroli Disease |
|
Conjunctival icterus, Cholangiocarcinoma, Conjugated hyperbilirubinemia, Esophageal varix |
ORPHA:53035 |
Kindler Syndrome |
|
Symblepharon, Anal stenosis, Corneal erosion, Esophageal stenosis, Dysphagia, Oral leukoplakia |
OMIM:173650 |
Focal Dermal Hypoplasia |
|
Corneal opacity, Duodenal atresia, Gastroesophageal reflux, Iris coloboma, Hypoplasia of the iris... |
ORPHA:2092 |
Phacoanaphylactic Uveitis |
|
Keratitis, Pseudophakia, Hypopyon, Abnormal pupil morphology, Corneal stromal edema, Anterior cha... |
ORPHA:209959 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Corneal opacity, Duodenal atresia, Gastroesophageal reflux, Astigmatism, Pyloric stenosis, Recurr... |
ORPHA:464306 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Keratitis, Conjunctivitis, Symblepharon, Sepsis, Xerostomia, Trichiasis, Conjunctival hyperemia, ... |
ORPHA:95455 |
Fabry Disease |
|
Malabsorption, Hyperlipidemia, Corneal opacity, Abnormal circulating lipid concentration, Conjunc... |
ORPHA:324 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Corneal opacity, Duodenal atresia, Gastroesophageal reflux, Astigmatism, Recurrent infections |
ORPHA:464311 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
High palate, Corneal opacity, Short palpebral fissure, Cleft palate, Thin eyebrow, Submucous clef... |
OMIM:608670 |
Fucosidosis |
|
Corneal opacity |
ORPHA:349 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse eyelashes, Esophageal stricture, Nasolacrimal duct obstruction, Pterygium, Oral leukoplakia |
OMIM:224230 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Anal atresia, Cleft palate, Peters anomaly, Iris coloboma, Colonic atresia, Cataract, Anteriorly ... |
OMIM:309801 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Conjunctivitis, Conjunctival hyperemia |
OMIM:142680 |
Schimke Immunoosseous Dysplasia |
|
Opacification of the corneal stroma, Astigmatism, Abnormal immunoglobulin level, Decreased circul... |
OMIM:242900 |
Tangier Disease |
|
Hypertriglyceridemia, Hypocholesterolemia, Ectropion, Corneal opacity |
ORPHA:31150 |
Mucopolysaccharidosis Type 6 |
|
Recurrent upper respiratory tract infections, Opacification of the corneal stroma, Macroglossia |
ORPHA:583 |
Fetal Akinesia Deformation Sequence |
|
Pterygium, Intestinal hypoplasia, Cleft palate |
ORPHA:994 |
Retinal Venous Beading |
|
Saccular conjunctival dilatations |
OMIM:180080 |
Multiple Sulfatase Deficiency |
|
Corneal opacity |
OMIM:272200 |
Oculocerebrorenal Syndrome Of Lowe |
|
Malabsorption, Narrow palate, Gastroesophageal reflux, Hypophosphatemia, Hypokalemia, Abnormal pu... |
ORPHA:534 |
Mosaic Trisomy 8 |
|
High palate, Corneal opacity, Cleft palate |
ORPHA:96061 |
Lathosterolosis |
|
High palate, Opacification of the corneal stroma, Microcornea, Downslanted palpebral fissures, Ep... |
ORPHA:46059 |
Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Ablepharon Macrostomia Syndrome |
|
Corneal opacity, Cryptophthalmos, Ablepharon, Absent eyebrow, Corneal erosion, Absent eyelashes |
ORPHA:920 |
Encephalocraniocutaneous Lipomatosis |
|
Corneal opacity, Abnormal nasolacrimal system morphology, Iris coloboma, Abnormal eyelash morphol... |
ORPHA:2396 |
Mucopolysaccharidosis Type 4 |
|
Corneal opacity |
ORPHA:582 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
High palate, High, narrow palate, Macroglossia, Elevated circulating long chain fatty acid concen... |
OMIM:214100 |
Multiple Pterygium Syndrome, Escobar Variant |
|
High palate, Cleft palate, Popliteal pterygium, Downslanted palpebral fissures, Axillary pterygiu... |
OMIM:265000 |
Smith-Lemli-Opitz Syndrome |
|
Elevated 7-dehydrocholesterol, Gastroesophageal reflux, Cleft palate, Upslanted palpebral fissure... |
ORPHA:818 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Corneal opacity, Abnormal nasolacrimal system morphology, Posterior embryotoxon, Abnormal rectum ... |
ORPHA:2556 |
Incontinentia Pigmenti |
|
Keratitis, Corneal opacity, Cataract, Infectious encephalitis |
ORPHA:464 |
Galloway-Mowat Syndrome 1 |
|
High palate, Hiatus hernia, Opacification of the corneal stroma, Epicanthus, Hypoplasia of the ir... |
OMIM:251300 |
Wilson Disease |
|
Kayser-Fleischer ring |
ORPHA:905 |
Carpenter Syndrome 1 |
|
High palate, Opacification of the corneal stroma, Microcornea, Telecanthus, Epicanthus |
OMIM:201000 |
Chime Syndrome |
|
Corneal opacity, Cleft palate, Upslanted palpebral fissure, Epicanthus, Ptosis |
ORPHA:3474 |
Warburg-Cinotti Syndrome |
|
High palate, Symblepharon, Corneal neovascularization, Epicanthus, Narrow palpebral fissure, Limb... |
OMIM:618175 |
Fraser Syndrome 1 |
|
Corneal opacity, Cryptophthalmos, Absent eyebrow, Cleft palate, Lacrimal duct aplasia, Upper eyel... |
OMIM:219000 |
Pseudo-Torch Syndrome 1 |
|
High palate, Opacification of the corneal stroma, Cataract |
OMIM:251290 |
Wilson Disease |
|
Increased circulating copper concentration, Hyperbilirubinemia, Hepatocellular carcinoma, Esophag... |
OMIM:277900 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Corneal opacity, Cleft palate, Megalocornea, Posterior subcapsular cataract, Downslanted palpebra... |
ORPHA:536471 |
Thrombocytopenia-Absent Radius Syndrome |
|
Corneal opacity, Cleft palate, Decreased circulating antibody level, Cataract, Meckel diverticulu... |
OMIM:274000 |
Dural Sinus Malformation |
|
Chemosis |
ORPHA:97339 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity |
OMIM:259600 |
Pterygia, Mental Retardation, And Distinctive Craniofacial Features |
|
Pterygium, Epicanthus |
OMIM:177980 |
Mucopolysaccharidosis, Type Vi |
|
Recurrent upper respiratory tract infections, Corneal opacity, Macroglossia |
OMIM:253200 |
Xeroderma Pigmentosum |
|
Keratitis, Blepharitis, Ectropion, Ankyloblepharon, Conjunctival telangiectasia, Opacification of... |
ORPHA:910 |
Autosomal Dominant Cutis Laxa |
|
Corneal opacity, Small bowel diverticula, Bronchiolitis, Developmental cataract, Ptosis |
ORPHA:90348 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Polycoria, Corneal neovascularization, Ectopia pupillae, Elevated circulating cr... |
OMIM:175780 |
Phaver Syndrome |
|
Pterygium, Epicanthus, Downslanted palpebral fissures |
ORPHA:2876 |
Williams Syndrome |
|
Blue irides, Tracheoesophageal fistula, Megalocornea, Rectal prolapse, Cataract, Colonic divertic... |
ORPHA:904 |
Wolf-Hirschhorn Syndrome |
|
Cleft palate, Megalocornea, Highly arched eyebrow, Downslanted palpebral fissures, Epicanthus, Ir... |
ORPHA:280 |
Phace Syndrome |
|
Sclerocornea, Iris coloboma, Cataract, Abnormality of the orbital region, Heterochromia iridis, L... |
ORPHA:42775 |
Bruck Syndrome |
|
Pterygium |
ORPHA:2771 |
Mucolipidosis Ii Alpha/Beta |
|
Macroglossia, Sparse eyebrow, Increased serum beta-hexosaminidase, Megalocornea, Opacification of... |
OMIM:252500 |
Bruck Syndrome 2 |
|
Pterygium |
OMIM:609220 |
Histiocytoid Cardiomyopathy |
|
Congenital aphakia, Corneal opacity, Megalocornea, Cleft palate |
ORPHA:137675 |
Lathosterolosis |
|
High palate, Hyperbilirubinemia, Opacification of the corneal stroma, Downslanted palpebral fissu... |
OMIM:607330 |
Mucopolysaccharidosis, Type Iva |
|
Recurrent upper respiratory tract infections, Opacification of the corneal stroma, Recurrent pneu... |
OMIM:253000 |
Idiopathic Panuveitis |
|
Posterior synechiae of the anterior chamber, Cataract, Conjunctival hyperemia |
ORPHA:280921 |
Larsen Syndrome |
|
Corneal opacity, Shallow orbits, Cleft palate |
OMIM:150250 |
Mucopolysaccharidosis, Type Ivb |
|
Recurrent upper respiratory tract infections, Opacification of the corneal stroma |
OMIM:253010 |
Trichinellosis |
|
Anisocoria, Meningitis, Dysphagia, Increased circulating IgE level, Conjunctivitis, Conjunctival ... |
ORPHA:863 |
Subaortic Stenosis--Short Stature Syndrome |
|
Epicanthus, Opacification of the corneal stroma, Microcornea |
OMIM:271960 |
Bruck Syndrome 1 |
|
Pterygium |
OMIM:259450 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Congenital pyloric atresia, Pterygium, Ectropion, Intestinal atresia |
ORPHA:79403 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Neuromuscular dysphagia, Blepharospasm, Conjunctival hyperemia |
ORPHA:240071 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Symblepharon |
OMIM:245660 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
Peters Plus Syndrome |
|
Anal atresia, Corneal opacity, Short palpebral fissure, Cleft palate, Upslanted palpebral fissure... |
ORPHA:709 |
Van Den Ende-Gupta Syndrome |
|
High palate, Abnormal eyebrow morphology, High, narrow palate, Cleft palate, Blepharophimosis, Sc... |
OMIM:600920 |
Hereditary Acrokeratotic Poikiloderma |
|
Ectropion, Xerostomia, Abnormality of the gastrointestinal tract, Keratoconjunctivitis, Opacifica... |
ORPHA:2907 |
Cardiomyopathy, Familial Hypertrophic 27 |
|
Pterygium |
OMIM:618052 |
Fucosidosis |
|
Tortuosity of conjunctival vessels, Macroglossia, Thick eyebrow, Recurrent respiratory infections |
OMIM:230000 |
Neu-Laxova Syndrome |
|
Cleft palate, Abnormal eyelid morphology, Abnormal nasolacrimal system morphology, Bifid uvula, A... |
ORPHA:2671 |
Mosaic Trisomy 1 |
|
Downslanted palpebral fissures, Opacification of the corneal stroma, Congenital bilateral ptosis,... |
ORPHA:1692 |
Neurocardiofaciodigital Syndrome |
|
High palate, Sparse eyebrow, Narrow palpebral fissure, Cataract, Sclerocornea |
OMIM:619869 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Corneal opacity, Esophageal varix, Azoospermia, Gastric ulcer, Ptosis |
ORPHA:2072 |
Digeorge Syndrome |
|
High palate, Hypocalcemia, Gastroesophageal reflux, High, narrow palate, Cleft palate, Short palp... |
OMIM:188400 |
Mucopolysaccharidosis Type 2 |
|
Recurrent upper respiratory tract infections, Recurrent ear infections, Corneal opacity, Macroglo... |
ORPHA:580 |
Neurofibromatosis Type 1 |
|
Corneal opacity, Neoplasm of the gastrointestinal tract, Lisch nodules, Cataract, Heterochromia i... |
ORPHA:636 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Recurrent upper respiratory tract infections, Recurrent ear infections, Corneal opacity, Macroglo... |
ORPHA:217085 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Recurrent upper respiratory tract infections, Recurrent ear infections, Corneal opacity, Macroglo... |
ORPHA:217093 |
Stuve-Wiedemann Syndrome 1 |
|
Short palpebral fissure, Opacification of the corneal stroma, Smooth tongue, Recurrent infections... |
OMIM:601559 |
Limb Body Wall Complex |
|
Corneal opacity, Lens subluxation, Cleft palate, Iris coloboma, Abnormal intestine morphology |
ORPHA:2369 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Odynophagia, Increased blood urea nitrogen, Decreased serum iron, Conjunctival icterus, Esophagea... |
ORPHA:447 |
Gaucher Disease |
|
Dysphagia, Increased circulating antibody level, Corneal opacity, Elevated circulating C-reactive... |
ORPHA:355 |
Microphthalmia, Syndromic 3 |
|
Esophageal atresia, Cataract, Sclerocornea |
OMIM:206900 |
Fryns Syndrome |
|
Anal atresia, Duodenal atresia, Cleft palate, Intestinal malrotation, Opacification of the cornea... |
OMIM:229850 |
Sarcoidosis |
|
Abnormality of the gastrointestinal tract, Abnormal conjunctiva morphology, Dacryocystitis, Catar... |
ORPHA:797 |
Meckel Syndrome |
|
Aplasia/Hypoplasia of the tongue, Cleft palate, Microcornea, Furrowed tongue, Cataract, Aplasia/H... |
ORPHA:564 |
Norrie Disease |
|
Corneal opacity, Abnormal pupil morphology, Anterior chamber synechiae, Aplasia/Hypoplasia of the... |
ORPHA:649 |
Wiedemann-Rautenstrauch Syndrome |
|
Corneal opacity, Upslanted palpebral fissure, Recurrent urinary tract infections, Submucous cleft... |
ORPHA:3455 |
Popliteal Pterygium Syndrome |
|
Ankyloblepharon, Cleft palate, Popliteal pterygium, Bifid uvula, Intercrural pterygium |
OMIM:119500 |
Hutchinson-Gilford Progeria Syndrome |
|
High palate, Corneal ulceration, Corneal opacity, Absent eyebrow, Shallow orbits, Loss of eyelash... |
ORPHA:740 |
Osteogenesis Imperfecta |
|
Intestinal obstruction, Corneal opacity, Dysphagia |
ORPHA:666 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Symblepharon, Thick eyebrow, Telecanthus |
ORPHA:488434 |
Amoebiasis Due To Free-Living Amoebae |
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Unusual skin infection, Corneal ulceration, Corneal perforation, Infectious encephalitis, Conjunc... |
ORPHA:68 |
Dyskeratosis Congenita, X-Linked |
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Blepharitis, Conjunctivitis, Sparse eyelashes, Anal mucosal leukoplakia, Esophageal stricture, Ca... |
OMIM:305000 |
Camptodactyly Syndrome, Guadalajara, Type Iii |
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Symblepharon, Telecanthus |
OMIM:611929 |
Yunis-Varon Syndrome |
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High, narrow palate, Sparse eyebrow, Upslanted palpebral fissure, Glossoptosis, Sparse eyelashes,... |
ORPHA:3472 |
Marburg Hemorrhagic Fever |
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Increased circulating antibody level, Odynophagia, Hypokalemia, Hyperammonemia, Severe infection,... |
ORPHA:99826 |
Gaucher Disease, Type Iiic |
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Opacification of the corneal stroma |
OMIM:231005 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Buphthalmos, Elevated circulating creatine kinase concentration, Opacification of the corneal str... |
OMIM:253280 |
Cockayne Syndrome B |
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Developmental cataract, Opacification of the corneal stroma, Microcornea, Hypoplasia of the iris |
OMIM:133540 |
Townes-Brocks Syndrome |
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Anal atresia, Rectoperineal fistula, Limbal dermoid, Iris coloboma, Cataract, Anteriorly placed a... |
ORPHA:857 |
Plague |
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Enterocolitis, Hematemesis, Sepsis, Inflammation of the large intestine, Mydriasis, Glossitis, Me... |
ORPHA:707 |
Microphthalmia, Syndromic 6 |
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High palate, Cleft palate, Orbital cyst, Microcornea, Bifid uvula, Microglossia, Sclerocornea |
OMIM:607932 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Opacification of the corneal stroma |
ORPHA:79280 |
Cockayne Syndrome A |
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Opacification of the corneal stroma, Cataract |
OMIM:216400 |
Neu-Laxova Syndrome 1 |
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Ablepharon, Cleft palate, Cataract, Absent eyelashes, Pterygium |
OMIM:256520 |
Yunis-Varon Syndrome |
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High palate, Sparse eyebrow, Upslanted palpebral fissure, Sparse eyelashes, Pyloric stenosis, Epi... |
OMIM:216340 |
Roberts-Sc Phocomelia Syndrome |
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High palate, Cleft palate, Shallow orbits, Opacification of the corneal stroma, Downslanted palpe... |
OMIM:268300 |
Leptospirosis |
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Meningitis, Hyperproteinemia, Conjunctival hyperemia |
ORPHA:509 |
Craniofacial Microsomia |
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Cleft palate, Upper eyelid coloboma, Limbal dermoid, Blepharophimosis, Ptosis |
OMIM:164210 |