Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Recurrent respiratory infections, Corneal opacity, Median cleft palate |
ORPHA:2432 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
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 |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal opacity, Corneal dystrophy, Palpebral edema, Corneal erosion, Opacification of the cornea... |
OMIM:608470 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis |
ORPHA:1067 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... |
ORPHA:163934 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL cholesterol concent... |
OMIM:136120 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Decreased HDL cholesterol concentration, Corneal arcus, Cataract |
OMIM:618463 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Bilateral cleft lip and palate, Posterior embryotoxon, Iris coloboma, ... |
ORPHA:1473 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent respiratory infections, Decreased circulating total IgM, Recurrent bacterial infections... |
OMIM:613493 |
Pterygium Of Conjunctiva And Cornea |
|
Abnormal conjunctiva morphology, Pterygium |
OMIM:178000 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Anterior synechiae of the anterior chamber,... |
OMIM:269400 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity, Cleft palate |
ORPHA:90654 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Recurrent otitis media, Long palpebral fis... |
OMIM:602562 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Bitot spots of the conjunctiva |
OMIM:277350 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Bartsocas-Papas Syndrome 2 |
|
Corneal opacity, Antecubital pterygium, Ankyloblepharon, Bilateral cleft lip and palate, Poplitea... |
OMIM:619339 |
Vernal Keratoconjunctivitis |
|
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... |
ORPHA:70476 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Rotor Syndrome |
|
Conjugated hyperbilirubinemia, Conjunctival icterus, Hyperbilirubinemia |
ORPHA:3111 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Gómez-López-Hernández Syndrome |
|
Telecanthus, Corneal opacity |
ORPHA:1532 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Abnormal conjunctiva morphology, Gastrointestinal infarctions |
OMIM:602248 |
Mannosidosis, Beta A, Lysosomal |
|
Tortuosity of conjunctival vessels, Recurrent infections |
OMIM:248510 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Developmental glaucoma, Abnormal Descemet membrane morphology, Posterior synechi... |
OMIM:617315 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Generalized Eruptive Keratoacanthoma |
|
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia, Ectropion |
ORPHA:411777 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity, Abnormal eyelid morphology, Abnormal eyelash morphology, Cleft palate, Upslanted... |
ORPHA:1794 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... |
ORPHA:98957 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Mucolipidosis Type Iii |
|
Corneal opacity, Cleft palate |
ORPHA:577 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Mucolipidosis Iv |
|
Corneal opacity, Achlorhydria, Opacification of the corneal stroma |
OMIM:252650 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... |
ORPHA:2399 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Epicanthus, High palate, Conjunctival hyperemia |
OMIM:619548 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Epicanthus, Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Upslanted palpebral fissu... |
OMIM:152950 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Cryptorchidism, Corneal opacity, Developmental cataract |
OMIM:618815 |
Bartsocas-Papas Syndrome |
|
Corneal opacity, Ankyloblepharon, Cleft palate, Popliteal pterygium, Sparse or absent eyelashes, ... |
ORPHA:1234 |
Microphthalmia, Syndromic 16 |
|
Ankyloblepharon, Sclerocornea |
OMIM:611038 |
Frontofacionasal Dysplasia |
|
Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, Cleft palate, M... |
ORPHA:1791 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Limbal stem cell deficiency... |
ORPHA:2334 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
Dermatopathia Pigmentosa Reticularis |
|
Abnormal conjunctiva morphology |
OMIM:125595 |
Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity, Abnormal testis morphology |
ORPHA:317 |
Syndromic Recessive X-Linked Ichthyosis |
|
Testicular seminoma, Cryptorchidism, Corneal opacity, Abnormal stomach morphology |
ORPHA:281090 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea |
ORPHA:83461 |
Alpha-Mannosidosis |
|
Recurrent respiratory infections, Cataract, Corneal opacity, Narrow palate, Macroglossia |
ORPHA:61 |
Chronic Bilirubin Encephalopathy |
|
Neonatal sepsis, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernat... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Neonatal sepsis, Conjunctival icterus, Abnormal conjunctiva morphology, Hypoalbuminemia, Hypernat... |
ORPHA:529799 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Blepharitis |
OMIM:602400 |
Ichthyosis, X-Linked |
|
Testicular neoplasm, Opacification of the corneal stroma, Cryptorchidism |
OMIM:308100 |
Harel-Yoon Syndrome |
|
Upslanted palpebral fissure, Corneal opacity, Developmental cataract |
OMIM:617183 |
Xp22.3 Microdeletion Syndrome |
|
Ectopic anus, Opacification of the corneal stroma |
ORPHA:1643 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Recurrent respiratory infections, Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoc... |
ORPHA:1806 |
Alpha-Mannosidosis, Adult Form |
|
Cataract, Corneal opacity, Recurrent infections, Macroglossia, Recurrent gastroenteritis |
ORPHA:309288 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:650 |
Heme Oxygenase 1 Deficiency |
|
Increased circulating interleukin 6 concentration, Elevated circulating C-reactive protein concen... |
OMIM:614034 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration |
OMIM:613153 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Sclerocornea, Microcornea, Narrow palpebral fissure, Ocular anterior segment dysgenesis, Iris col... |
OMIM:615145 |
Proteus Syndrome |
|
Limbal dermoid, Downslanted palpebral fissures, Ptosis |
OMIM:176920 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ... |
OMIM:167730 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Fish-Eye Disease |
|
Decreased HDL cholesterol concentration, Corneal opacity |
ORPHA:79292 |
Pterygium, Antecubital |
|
Antecubital pterygium |
OMIM:178200 |
8Q21.11 Microdeletion Syndrome |
|
Epicanthus, Cataract, Corneal opacity, Iris hypopigmentation, Sclerocornea, Cryptorchidism, High ... |
ORPHA:284160 |
Recessive X-Linked Ichthyosis |
|
Cryptorchidism, Opacification of the corneal stroma |
ORPHA:461 |
Zellweger Syndrome |
|
Epicanthus, Cataract, Corneal opacity, Malabsorption, Brushfield spots, Cryptorchidism, Pyloric s... |
ORPHA:912 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
Radial Heads, Posterior Dislocation Of |
|
Antecubital pterygium |
OMIM:179200 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent enteroviral infections, Recurrent pneumonia, Decrease... |
OMIM:601495 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Upslanted palpebral fissure, Cryptorchidism, Cataract, Corneal opacity |
ORPHA:496790 |
Tangier Disease |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Lowry-Maclean Syndrome |
|
Corneal opacity, Bilateral cryptorchidism, High, narrow palate, Developmental glaucoma, Pyloric s... |
ORPHA:2409 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Telecanthus, Corneal opacity, Developmental glaucoma |
ORPHA:1064 |
Sanjad-Sakati Syndrome |
|
Recurrent respiratory infections, Intestinal obstruction, Corneal opacity, Cryptorchidism, Astigm... |
ORPHA:2323 |
Short Syndrome |
|
Telecanthus, Corneal opacity, Abnormal pupil morphology, Abnormal anterior chamber morphology, Hy... |
ORPHA:3163 |
Sialidosis Type 2 |
|
Corneal opacity |
ORPHA:87876 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity |
ORPHA:290 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cryptorchidism, Cataract, Corneal opacity, Decreased testicular size |
ORPHA:1867 |
Scheie Syndrome |
|
Corneal opacity |
OMIM:607016 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Toriello-Lacassie-Droste Syndrome |
|
Epicanthus, Telecanthus, Aganglionic megacolon, Blepharophimosis, Eyelid coloboma, Abnormal conju... |
ORPHA:3339 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity |
OMIM:166300 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Corneal arcus, Hypercholesterolemia, Abnormal LDL cholesterol concentration |
OMIM:603776 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Telecanthus, Corneal opacity, Elevated circulating creatine kinase concentration, Cryptorchidism,... |
OMIM:301056 |
Sjogren-Larsson Syndrome |
|
Astigmatism, Opacification of the corneal epithelium |
OMIM:270200 |
Cystinosis |
|
Hypokalemia, Malabsorption, Corneal opacity, Hypophosphatemia |
ORPHA:213 |
Isolated Congenital Alacrima |
|
Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ... |
ORPHA:91416 |
Walker-Warburg Syndrome |
|
Cataract, Corneal opacity, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Microcornea... |
ORPHA:899 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Sclerocornea, Cryptorchidism, Microcornea, High palate, Iris coloboma |
ORPHA:139471 |
Hurler-Scheie Syndrome |
|
Corneal opacity |
ORPHA:93476 |
Wagro Syndrome |
|
Cataract, Corneal opacity, Aniridia, Downslanted palpebral fissures, Decreased testicular size, P... |
OMIM:612469 |
Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
3Mc Syndrome 3 |
|
Corneal opacity, Highly arched eyebrow, Cryptorchidism, Cleft palate, Blepharophimosis, Epicanthu... |
OMIM:248340 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
Hypercholesterolemia, Familial, 2 |
|
Increased LDL cholesterol concentration, Xanthelasma, Corneal arcus, Hypercholesterolemia |
OMIM:144010 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
Oculoauriculofrontonasal Syndrome |
|
Limbal dermoid, Upper eyelid coloboma, Cleft palate |
ORPHA:398156 |
Familial Dysautonomia |
|
Hyponatremia, Recurrent respiratory infections, Corneal opacity, Abnormal pupil morphology, Corne... |
ORPHA:1764 |
Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity |
ORPHA:2788 |
Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
Distal Deletion 6P |
|
Epicanthus, Corneal opacity, Abnormal anterior chamber morphology, Hypoplasia of the iris, Anteri... |
ORPHA:96125 |
3Q29 Microduplication Syndrome |
|
Cataract, Sclerocornea, Cleft palate, Ectopic anus, High palate, Aniridia, Downslanted palpebral ... |
ORPHA:251038 |
Oculocerebrocutaneous Syndrome |
|
Corneal opacity, Cryptorchidism, Eyelid coloboma, Iris coloboma, Ptosis |
ORPHA:1647 |
Al-Gazali Syndrome |
|
Recurrent pneumonia, Corneal opacity, Sclerocornea |
OMIM:609465 |
Apolipoprotein A-I Deficiency |
|
Xanthelasma, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentration, O... |
ORPHA:425 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Anal atresia, Telecanthus, Epicanthus, High palate, Axenfeld anomaly, Opacification of the cornea... |
OMIM:612582 |
Muckle-Wells Syndrome |
|
Conjunctival hyperemia, Conjunctivitis, Elevated circulating C-reactive protein concentration |
OMIM:191900 |
Proboscis Lateralis |
|
Abnormal eyebrow morphology, Epicanthus, Cataract, Corneal opacity, Abnormal nasolacrimal system ... |
ORPHA:141099 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Telecanthus, Anal stenosis, Cryptorchidism, Microcornea, Opacification of the corneal stroma, Ant... |
OMIM:601499 |
Stromme Syndrome |
|
Cataract, Jejunal atresia, Intestinal malrotation, Sclerocornea, Cleft palate, Microcornea, Peter... |
OMIM:243605 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Downslanted palpebral fissures, Abnormal cornea morphology, Corneal opacity |
ORPHA:357058 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Bilateral ptosis, Corneal erosion, Hypop... |
OMIM:106210 |
Hypercholesterolemia, Familial, 1 |
|
Increased LDL cholesterol concentration, Xanthelasma, Corneal arcus |
OMIM:143890 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes, Cryptophthalmos |
OMIM:615877 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Sclerocornea, Cryptorchidism, Esophageal atresia, Tracheoesophageal fistula, Iris coloboma |
ORPHA:77298 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Nasolacrimal duct obstruction, Developmental cataract, Microcornea, Iris ... |
OMIM:612109 |
Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity, Dysphagia, Protruding tongue |
ORPHA:93399 |
Sialidosis Type 1 |
|
Cataract, Corneal opacity |
ORPHA:812 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Elevated maternal serum alpha-fetoprotein, Esophageal atresia, Congenital pyloric atresia, Axilla... |
OMIM:226730 |
Fryns Syndrome |
|
Corneal opacity, Aganglionic megacolon, Intestinal malrotation, Cryptorchidism, Cleft palate, Ect... |
ORPHA:2059 |
Mucolipidosis Iii Gamma |
|
Increased serum beta-hexosaminidase, Opacification of the corneal stroma |
OMIM:252605 |
Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Schimke Immuno-Osseous Dysplasia |
|
Hyperlipidemia, Corneal opacity, Abnormal intestine morphology, Recurrent infections |
ORPHA:1830 |
Rodrigues Blindness |
|
Microcornea, Sclerocornea |
OMIM:268320 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Epicanthus, Cataract, Sclerocornea, Cryptorchidism, Cleft palate, High palate, Downslanted palpeb... |
OMIM:614230 |
Cystinosis, Adult Nonnephropathic |
|
Elevated circulating creatinine concentration, Corneal crystals |
OMIM:219750 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
Axial Mesodermal Dysplasia Spectrum |
|
Anorectal anomaly, Tracheoesophageal fistula, Gastroesophageal reflux, Abnormal intestine morphol... |
ORPHA:1834 |
Lichen Planopilaris |
|
Pterygium, Abnormal intestine morphology |
ORPHA:525 |
Tularemia |
|
Brain abscess, Conjunctivitis, Increased circulating antibody level, Conjunctival hyperemia, Meni... |
ORPHA:3392 |
Hurler-Scheie Syndrome |
|
Recurrent respiratory infections, Corneal opacity |
OMIM:607015 |
Gm1 Gangliosidosis |
|
Recurrent respiratory infections, Corneal opacity, Macroglossia, Gastroesophageal reflux, Dysphag... |
ORPHA:354 |
Hurler Syndrome |
|
Recurrent respiratory infections, Corneal opacity, Bilateral ptosis, Macroglossia, Opacification ... |
OMIM:607014 |
Congenital Sialidosis Type 2 |
|
Protruding tongue, Cataract, Corneal opacity, Developmental cataract |
ORPHA:93400 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Epicanthus, Cataract, Palpebral edema, Brushfield spots, Cryptorchidism, Cleft palate, Upslanted ... |
OMIM:214110 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cataract, Tortuosity of conjunctival vessels, Ptosis |
ORPHA:284289 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Furrowed tongue, Keratoconjunct... |
OMIM:158310 |
Gorlin-Chaudhry-Moss Syndrome |
|
Astigmatism, Upper eyelid coloboma, Sclerocornea, Abnormal eyelid morphology |
ORPHA:2095 |
Multiple Sulfatase Deficiency |
|
Cataract, Corneal opacity, Thick eyebrow |
ORPHA:585 |
Farber Disease |
|
Abnormal conjunctiva morphology, Recurrent upper respiratory tract infections, Corneal opacity, O... |
ORPHA:333 |
Moebius Syndrome |
|
Epicanthus, Corneal opacity, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, Dysphag... |
ORPHA:570 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Corneal pterygium, Symblepharon |
OMIM:245660 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Telecanthus, Corneal opacity, Synophrys, Cleft palate, Thin eyebrow, Microglossia, Short palpebra... |
ORPHA:364577 |
Encephalocraniocutaneous Lipomatosis |
|
Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid |
OMIM:613001 |
Mucolipidosis Type Iv |
|
Corneal opacity |
ORPHA:578 |
Mucopolysaccharidosis, Type Vii |
|
Epicanthus, Corneal opacity, Recurrent upper respiratory tract infections, Macroglossia, Recurren... |
OMIM:253220 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Cryptorchidism, Cl... |
OMIM:236670 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal opacity, Corneal dystrophy, Sparse eyebrow, Cryptorchidism, Synophrys, Buphthalmos, Anter... |
ORPHA:495875 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Corneal opacity, Iris hypopigmentation, Cryptorchidism, Ocular albinism, Ectropion |
ORPHA:2719 |
Cirrhotic Cardiomyopathy |
|
Increased circulating NT-proBNP concentration, Conjunctival icterus, Abnormal circulating A-type ... |
ORPHA:57777 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity, Sepsis, Decreased circulating antibody level, Recurrent infections, Hypoalbumine... |
ORPHA:79396 |
Autoimmune Polyendocrinopathy Type 1 |
|
Chronic mucocutaneous candidiasis, Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyelashes, Absent eyebrow, Conjunctival hyperemia, Cleft palate |
ORPHA:2890 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
Tbck-Related Intellectual Disability Syndrome |
|
Epicanthus, Corneal opacity, High, narrow palate, Synophrys, Cryptorchidism, Upslanted palpebral ... |
ORPHA:488632 |
Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Corneal opacity |
ORPHA:584 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma, Decreased circulating IgA level |
OMIM:215250 |
De Barsy Syndrome |
|
Recurrent sinopulmonary infections, Epicanthus, Cataract, Corneal opacity, Cryptorchidism, High p... |
ORPHA:2962 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... |
OMIM:256800 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperphosphatemia, Conjunctival whitish salt-like deposits |
OMIM:211900 |
Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma |
OMIM:256540 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Epicanthus, Telecanthus, Multiple pterygia, Abnormal eyelid morphology, Cryptorchidism, Antecubit... |
ORPHA:2990 |
Coloboma, Ocular, Autosomal Dominant |
|
Corneal opacity, Peters anomaly |
OMIM:120200 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Conjunctival icterus, Increased circulating ferritin concentration |
OMIM:194380 |
Mucopolysaccharidosis, Type Ivb |
|
Recurrent upper respiratory tract infections, Corneal opacity, Opacification of the corneal stroma |
OMIM:253010 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Recurrent respiratory infections, Corneal opacity, Abnormal nasolacrimal system m... |
ORPHA:2273 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Epicanthus, Cataract, Corneal opacity, Cleft palate, Colon cancer, Stomach ... |
ORPHA:1052 |
Kindler Epidermolysis Bullosa |
|
Corneal opacity, Esophageal stricture, Abnormality of the anus, Inflammation of the large intesti... |
ORPHA:2908 |
Mosaic Trisomy 9 |
|
Corneal opacity, Intestinal malrotation, Cryptorchidism, Cleft palate, Upslanted palpebral fissur... |
ORPHA:99776 |
Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Ablepharon, Anal stenosis, Cicatricial lagophthalmos, Absent eyelashes, Bilateral... |
OMIM:263650 |
Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Developmental cataract |
OMIM:616603 |
Gomez-Lopez-Hernandez Syndrome |
|
High palate, Downslanted palpebral fissures, Opacification of the corneal stroma |
OMIM:601853 |
Paroxysmal Hemicrania |
|
Conjunctival hyperemia, Palpebral edema, Ptosis |
ORPHA:157835 |
Congenital Disorder Of Deglycosylation 1 |
|
Recurrent respiratory infections, Corneal opacity, Elevated circulating alpha-fetoprotein concent... |
OMIM:615273 |
Scheie Syndrome |
|
Corneal opacity |
ORPHA:93474 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
Alpha-Mannosidosis, Infantile Form |
|
Recurrent urinary tract infections, Cataract, Corneal opacity, Highly arched eyebrow, Recurrent i... |
ORPHA:309282 |
Zygomycosis |
|
Gastrointestinal hemorrhage, Brain abscess, Unusual skin infection, Gastritis, Hematemesis, Invas... |
ORPHA:73263 |
Mucopolysaccharidosis Type 1 |
|
Recurrent respiratory infections, Corneal opacity, Malabsorption |
ORPHA:579 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hypophosphatemic rickets, Corneal opacity |
OMIM:163200 |
Mucopolysaccharidosis Type 3 |
|
Recurrent sinopulmonary infections, Cataract, Corneal opacity, Malabsorption, Synophrys, Recurren... |
ORPHA:581 |
Caroli Syndrome |
|
Cholangiocarcinoma, Conjugated hyperbilirubinemia, Conjunctival icterus, Hematemesis, Esophageal ... |
ORPHA:480520 |
Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
Proteus-Like Syndrome |
|
Cataract, Abnormal pupil morphology, Downslanted palpebral fissures, Limbal dermoid, Heterochromi... |
ORPHA:2969 |
Phacoanaphylactic Uveitis |
|
Hypopyon, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium morphology, Pseudoph... |
ORPHA:209959 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Corneal opacity, Cryptorchidism, Recurrent infections, Astigmatism, Gastroesophageal reflux, Duod... |
ORPHA:464311 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Corneal opacity, Cryptorchidism, Pyloric stenosis, Recurrent infections, Astigmatism, Gastroesoph... |
ORPHA:464306 |
Caroli Disease |
|
Cholangiocarcinoma, Conjugated hyperbilirubinemia, Conjunctival icterus, Esophageal varix, Abnorm... |
ORPHA:53035 |
Hurler Syndrome |
|
Macroglossia, Corneal opacity, Recurrent respiratory infections, Thick eyebrow |
ORPHA:93473 |
Fabry Disease |
|
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Malabsorption, Hyperli... |
ORPHA:324 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Hypotriglyceridemia, Corneal opacity, Lens subluxation |
ORPHA:85167 |
Fetal Akinesia Deformation Sequence |
|
Intestinal hypoplasia, Cryptorchidism, Pterygium, Cleft palate |
ORPHA:994 |
Mosaic Trisomy 8 |
|
Corneal opacity, Cryptorchidism, Cleft palate, High palate, Decreased testicular size |
ORPHA:96061 |
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features |
|
Epicanthus, Pterygium, Multiple pterygia |
OMIM:177980 |
Focal Dermal Hypoplasia |
|
Corneal opacity, Ectopia lentis, Hypoplasia of the iris, Gastroesophageal reflux, Iris coloboma, ... |
ORPHA:2092 |
Schimke Immunoosseous Dysplasia |
|
Abnormal immunoglobulin level, Bilateral cryptorchidism, Decreased circulating antibody level, Re... |
OMIM:242900 |
Mucolipidosis Iii Alpha/Beta |
|
Opacification of the corneal stroma, Increased serum beta-hexosaminidase, Hyperopic astigmatism |
OMIM:252600 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Sclerocornea, Cleft palate, Anteriorly placed anus, Colonic atresia, Peters anomaly, Ir... |
OMIM:309801 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Recurrent respiratory infections, Cataract, Corneal opacity, Hypoammonemia, Malabso... |
ORPHA:534 |
Tangier Disease |
|
Hypocholesterolemia, Hypertriglyceridemia, Corneal opacity, Ectropion |
ORPHA:31150 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Telecanthus, Corneal opacity, Synophrys, Cleft palate, High pal... |
OMIM:608670 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Symblepharon, Trichiasis, Oral-pharyngeal dysphagia, Keratitis, Intestinal perforation, Corneal e... |
ORPHA:95455 |
Kindler Syndrome |
|
Anal stenosis, Esophageal stenosis, Symblepharon, Corneal erosion, Dysphagia, Oral leukoplakia |
OMIM:173650 |
Fucosidosis |
|
Corneal opacity |
ORPHA:349 |
Fumarase Deficiency |
|
Necrotizing enterocolitis, Conjunctival icterus, High palate, Hyperbilirubinemia, Mitochondrial s... |
OMIM:606812 |
Periodic Fever, Familial, Autosomal Dominant |
|
Gastrointestinal hemorrhage, Conjunctival hyperemia, Conjunctivitis |
OMIM:142680 |
Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse eyelashes, Esophageal stricture, Nasolacrimal duct obstruction, Pterygium, Oral leukoplakia |
OMIM:224230 |
Multiple Sulfatase Deficiency |
|
Corneal opacity |
OMIM:272200 |
Mucopolysaccharidosis Type 6 |
|
Macroglossia, Recurrent upper respiratory tract infections, Opacification of the corneal stroma |
ORPHA:583 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Ablepharon, Corneal opacity, Absent eyelashes, Corneal erosion, Cryptophthalmos |
ORPHA:920 |
Smith-Lemli-Opitz Syndrome |
|
Epicanthus, Cataract, Aganglionic megacolon, Sclerocornea, Abnormal eyelash morphology, Pyloric s... |
ORPHA:818 |
Lathosterolosis |
|
Epicanthus, Cataract, Microcornea, High palate, Opacification of the corneal stroma, Downslanted ... |
ORPHA:46059 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Epicanthus, Cataract, Protruding tongue, Brushfield spots, High, narrow palate, Cryptorchidism, U... |
OMIM:214100 |
Galloway-Mowat Syndrome 1 |
|
Epicanthus, Cataract, Hiatus hernia, Hypoplasia of the iris, Hypoalbuminemia, High palate, Opacif... |
OMIM:251300 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Corneal opacity, Shallow orbits |
OMIM:601812 |
Dyggve-Melchior-Clausen Disease |
|
Recurrent upper respiratory tract infections, Corneal opacity |
ORPHA:239 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Epicanthus, Bilateral ptosis, Cryptorchidism, Neck pterygia, Antecubital pterygium, Cleft palate,... |
OMIM:265000 |
Carpenter Syndrome 1 |
|
Epicanthus, Telecanthus, Cryptorchidism, Microcornea, High palate, Opacification of the corneal s... |
OMIM:201000 |
Oculoectodermal Syndrome |
|
Epicanthus, Microcornea, Eyelid coloboma, Astigmatism, Opacification of the corneal stroma, Limba... |
OMIM:600268 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Corneal opacity, Cryptorchidism, Posterior subcapsular cataract, Cleft palate, Megalocornea, Down... |
ORPHA:536471 |
Incontinentia Pigmenti |
|
Keratitis, Cataract, Corneal opacity, Infectious encephalitis |
ORPHA:464 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Cataract, Entropion, Keratitis, Cryptorchidism, Ankyloblepharon, Opa... |
ORPHA:910 |
Encephalocraniocutaneous Lipomatosis |
|
Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal ey... |
ORPHA:2396 |
Fraser Syndrome 1 |
|
Absent eyebrow, Abnormal small intestine morphology, Corneal opacity, Absent eyelashes, Cryptorch... |
OMIM:219000 |
Mucopolysaccharidosis Type 4 |
|
Corneal opacity |
ORPHA:582 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Corneal opacity, Abnormal nasolacrimal system morphology, Sclerocornea, Abnormal eyelid morpholog... |
ORPHA:2556 |
Pseudo-Torch Syndrome 1 |
|
Cataract, High palate, Opacification of the corneal stroma |
OMIM:251290 |
Chime Syndrome |
|
Epicanthus, Corneal opacity, Cleft palate, Upslanted palpebral fissure, Ptosis |
ORPHA:3474 |
Wilson Disease |
|
Decreased circulating ceruloplasmin concentration, Hypouricemia, Esophageal varix, Dysphagia, Kay... |
OMIM:277900 |
Wilson Disease |
|
Kayser-Fleischer ring |
ORPHA:905 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity |
OMIM:259600 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity, Cleft palate, Decreased circulating antibody level, Meckel diverticulu... |
OMIM:274000 |
Warburg-Cinotti Syndrome |
|
Epicanthus, Symblepharon, Narrow palpebral fissure, Limbal stem cell deficiency, High palate, Dec... |
OMIM:618175 |
Dural Sinus Malformation |
|
Chemosis |
ORPHA:97339 |
Wolf-Hirschhorn Syndrome |
|
Recurrent respiratory infections, Epicanthus, Sclerocornea, Highly arched eyebrow, Cryptorchidism... |
ORPHA:280 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Elevated circulating creatine kinase concentration, Polycoria, Developmental cat... |
OMIM:175780 |
Williams Syndrome |
|
Elevated circulating creatine kinase concentration, Rectal prolapse, Gastroesophageal reflux, Meg... |
ORPHA:904 |
Idiopathic Panuveitis |
|
Conjunctival hyperemia, Cataract, Posterior synechiae of the anterior chamber |
ORPHA:280921 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lacrimal duct atresia, Sclerocornea |
OMIM:300952 |
Lathosterolosis |
|
Epicanthus, Cataract, Abnormal circulating cholesterol concentration, High palate, Opacification ... |
OMIM:607330 |
Mucopolysaccharidosis, Type Vi |
|
Macroglossia, Recurrent upper respiratory tract infections, Corneal opacity |
OMIM:253200 |
Histiocytoid Cardiomyopathy |
|
Cleft palate, Megalocornea, Corneal opacity, Congenital aphakia |
ORPHA:137675 |
Trichinellosis |
|
Increased circulating IgE level, Anisocoria, Conjunctivitis, Dysphagia, Conjunctival hyperemia, M... |
ORPHA:863 |
Phace Syndrome |
|
Cataract, Sclerocornea, Lens coloboma, Abnormality of the orbital region, Heterochromia iridis, I... |
ORPHA:42775 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Corneal crystals |
OMIM:210370 |
Autosomal Dominant Cutis Laxa |
|
Corneal opacity, Developmental cataract, Small bowel diverticula, Bronchiolitis, Ptosis |
ORPHA:90348 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Epicanthus, Cataract, Palpebral edema, Brushfield spots, Conjugated hyperbilirubinemia, Cryptorch... |
OMIM:614866 |
Mucolipidosis Ii Alpha/Beta |
|
Epicanthus, Palpebral edema, Increased serum beta-hexosaminidase, Sparse eyebrow, Recurrent pneum... |
OMIM:252500 |
Larsen Syndrome |
|
Cryptorchidism, Corneal opacity, Cleft palate, Shallow orbits |
OMIM:150250 |
Peters Plus Syndrome |
|
Intestinal fistula, Cataract, Corneal opacity, Cryptorchidism, Cleft palate, Microcornea, Upslant... |
ORPHA:709 |
Mucopolysaccharidosis, Type Iva |
|
Recurrent upper respiratory tract infections, Recurrent pneumonia, Opacification of the corneal s... |
OMIM:253000 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Pterygium, Intestinal atresia, Congenital pyloric atresia, Ectropion |
ORPHA:79403 |
Neurofibromatosis Type 1 |
|
Cataract, Corneal opacity, Abnormal eyelid morphology, Cryptorchidism, Lisch nodules, Neoplasm of... |
ORPHA:636 |
Van Den Ende-Gupta Syndrome |
|
Abnormal eyebrow morphology, Sclerocornea, High, narrow palate, Cleft palate, High palate, Blepha... |
OMIM:600920 |
Digeorge Syndrome |
|
Sclerocornea, High, narrow palate, Recurrent pneumonia, Cleft palate, Recurrent infections, Hydro... |
OMIM:188400 |
Fryns Syndrome |
|
Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cryptorchidism, Cleft palate, ... |
OMIM:229850 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the gastrointestinal tract, Xerostomia, Keratoconjunctivitis, Opacification of the... |
ORPHA:2907 |
Neurocardiofaciodigital Syndrome |
|
Cataract, Sclerocornea, Sparse eyebrow, Narrow palpebral fissure, High palate |
OMIM:619869 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
Mosaic Trisomy 1 |
|
Congenital bilateral ptosis, Cleft palate, Downslanted palpebral fissures, Opacification of the c... |
ORPHA:1692 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Corneal opacity, Esophageal varix, Azoospermia, Gastric ulcer, Ptosis |
ORPHA:2072 |
Limb Body Wall Complex |
|
Corneal opacity, Cleft palate, Abnormal intestine morphology, Lens subluxation, Iris coloboma |
ORPHA:2369 |
Microphthalmia, Syndromic 3 |
|
Cryptorchidism, Esophageal atresia, Cataract, Sclerocornea |
OMIM:206900 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Macroglossia, Recurrent upper respiratory tract infections, Corneal opacity, Recurrent ear infect... |
ORPHA:217085 |
Mucopolysaccharidosis Type 2 |
|
Macroglossia, Recurrent upper respiratory tract infections, Corneal opacity, Recurrent ear infect... |
ORPHA:580 |
Stuve-Wiedemann Syndrome 1 |
|
Recurrent infections, Smooth tongue, Opacification of the corneal stroma, Dysphagia, Short palpeb... |
OMIM:601559 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Macroglossia, Recurrent upper respiratory tract infections, Corneal opacity, Recurrent ear infect... |
ORPHA:217093 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Cryptorc... |
ORPHA:649 |
Meckel Syndrome |
|
Cataract, Aplasia/Hypoplasia of the tongue, Sclerocornea, Cryptorchidism, Cleft palate, Furrowed ... |
ORPHA:564 |
Popliteal Pterygium Syndrome |
|
Cryptorchidism, Ankyloblepharon, Cleft palate, Popliteal pterygium, Intercrural pterygium, Bifid ... |
OMIM:119500 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Esophageal spasms, Decreased serum iron, Conjunctival icterus, Odynophagia, Dysphagia, Unconjugat... |
ORPHA:447 |
Gaucher Disease |
|
Corneal opacity, Dysphagia, Elevated circulating C-reactive protein concentration, Increased circ... |
ORPHA:355 |
Sarcoidosis |
|
Abnormality of the gastrointestinal tract, Cataract, Hypercalcemia, Dacryocystitis, Enlarged lacr... |
ORPHA:797 |
Wiedemann-Rautenstrauch Syndrome |
|
Recurrent urinary tract infections, Cataract, Corneal opacity, Entropion, Hypertriglyceridemia, L... |
ORPHA:3455 |
Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Corneal opacity, Nocturnal lagophthalmos, Loss of eyelashes, High palate, Shallow... |
ORPHA:740 |
Osteogenesis Imperfecta |
|
Intestinal obstruction, Corneal opacity, Dysphagia |
ORPHA:666 |
Yunis-Varon Syndrome |
|
Cataract, Sparse eyelashes, Sclerocornea, Sparse eyebrow, High, narrow palate, Pyloric stenosis, ... |
ORPHA:3472 |
Dyskeratosis Congenita, X-Linked |
|
Cataract, Sparse eyelashes, Cryptorchidism, Esophageal stricture, Conjunctivitis, Oral leukoplaki... |
OMIM:305000 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Telecanthus, Symblepharon, Thick eyebrow |
ORPHA:488434 |
Johanson-Blizzard Syndrome |
|
Colonic diverticula, Absent lacrimal punctum, Increased VLDL cholesterol concentration, Malabsorp... |
OMIM:243800 |
Camptodactyly Syndrome, Guadalajara, Type Iii |
|
Telecanthus, Symblepharon |
OMIM:611929 |
Roberts-Sc Phocomelia Syndrome |
|
Cataract, Corneal opacity, Cryptorchidism, Cleft palate, Eyelid coloboma, High palate, Opacificat... |
OMIM:268300 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Aganglionic megacolon, Absent eyelashes, Keratitis, Cryptorchidism, Recurrent upp... |
OMIM:308205 |
Gaucher Disease, Type Iiic |
|
Opacification of the corneal stroma |
OMIM:231005 |
Cockayne Syndrome B |
|
Cryptorchidism, Developmental cataract, Microcornea, Hypoplasia of the iris, Opacification of the... |
OMIM:133540 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Elevated circulating creatine kinase concentration, Buphthalmos, Opacification of the c... |
OMIM:253280 |
Plague |
|
Hematemesis, Meningitis, Enterocolitis, Sepsis, Inflammation of the large intestine, Conjunctival... |
ORPHA:707 |
Microphthalmia, Syndromic 6 |
|
Sclerocornea, Cryptorchidism, Orbital cyst, Cleft palate, Microcornea, High palate, Microglossia,... |
OMIM:607932 |
Townes-Brocks Syndrome |
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Cataract, Rectoperineal fistula, Blepharophimosis, Cryptorchidism, Anteriorly placed anus, Rectov... |
ORPHA:857 |
Cockayne Syndrome A |
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Cryptorchidism, Cataract, Opacification of the corneal stroma |
OMIM:216400 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Opacification of the corneal stroma |
ORPHA:79280 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Decreased testicular size, Elevated circulating creatine kinase concentration, Opacification of t... |
OMIM:615287 |
Yunis-Varon Syndrome |
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Epicanthus, Cataract, Sparse eyelashes, Sclerocornea, Sparse eyebrow, Pyloric stenosis, Cryptorch... |
OMIM:216340 |
Craniofacial Microsomia 1 |
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Blepharophimosis, Upper eyelid coloboma, Cleft palate, Limbal dermoid, Ptosis |
OMIM:164210 |