Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
Corneal Dystrophy, Band-Shaped |
|
Band-shaped corneal dystrophy |
OMIM:217500 |
Corneal dystrophy, lisch epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Keratoconus 1 |
|
Keratoconus, Astigmatism |
OMIM:148300 |
Keratoconus 9 |
|
Keratoconus, Decreased corneal thickness |
OMIM:617928 |
Corneal Endothelial Dystrophy |
|
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... |
OMIM:217700 |
Cornea Plana 1, Autosomal Dominant |
|
Flat cornea |
OMIM:121400 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
Corneal Dystrophy, Congenital Stromal |
|
Corneal dystrophy, Band-shaped corneal dystrophy, Increased corneal thickness, Corneal erosion |
OMIM:610048 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... |
OMIM:309300 |
Cornea Plana 2, Autosomal Recessive |
|
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy |
OMIM:121820 |
Pupillary Membrane, Persistence Of |
|
Persistent pupillary membrane, Developmental cataract, Megalocornea |
OMIM:178900 |
Zinc Deficiency, Transient Neonatal |
|
Decreased serum zinc |
OMIM:608118 |
Macular Corneal Dystrophy |
|
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... |
ORPHA:98969 |
Hyperzincemia With Functional Zinc Depletion |
|
Diarrhea, Increased serum zinc |
OMIM:601979 |
Corneal Dystrophy, Groenouw Type I |
|
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... |
ORPHA:293603 |
Keratitis, Hereditary |
|
Opacification of the corneal stroma, Keratitis |
OMIM:148190 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Corneal perforation, Megalocornea, Umbilical hernia, Inguinal hernia, Joint hypermob... |
OMIM:614170 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae |
OMIM:609141 |
Ring Dermoid Of Cornea |
|
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... |
OMIM:180550 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal guttata, Corneal dystrophy |
OMIM:615523 |
Hemochromatosis, Type 5 |
|
Abnormal circulating copper concentration, Increased circulating iron concentration, Abnormal cir... |
OMIM:615517 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Leber Congenital Amaurosis 7 |
|
Cataract, Keratoconus |
OMIM:613829 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Hypoalbuminemia, Decreased circulating iron concentration, Atypical scarring of skin, Decreased c... |
ORPHA:89842 |
Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Hypoalbuminemia, Failure to thrive, Postnatal growth retardation, Intrauterine growth retardation... |
OMIM:617093 |
Gracile Syndrome |
|
Intrauterine growth retardation, Increased serum pyruvate, Increased circulating iron concentrati... |
OMIM:603358 |
Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus |
OMIM:613826 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Short stature, Diarrhea, Failure to thrive, Decreased serum zinc |
OMIM:201100 |
Brittle Cornea Syndrome 1 |
|
Keratoconus, Atypical scarring of skin, Abnormal cornea morphology, Dentinogenesis imperfecta, Mi... |
OMIM:229200 |
Slc39A8-Cdg |
|
Disproportionate short-limb short stature, Failure to thrive in infancy, Elbow flexion contractur... |
ORPHA:468699 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal guttata, Corneal degeneration, Corneal dystrophy |
OMIM:610158 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Anemia, Sideroblastic, 2, Pyridoxine-Refractory |
|
Elevated transferrin saturation, Increased circulating ferritin concentration |
OMIM:205950 |
Iron Overload, Susceptibility To |
|
Elevated transferrin saturation, Elevated circulating hepcidin concentration, Elevated hepatic ir... |
OMIM:620121 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... |
OMIM:613270 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal guttata, Corneal stromal edema, Corneal opacity |
OMIM:613267 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal guttata, Corneal dystrophy |
OMIM:613268 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Intrauterine growth retardation, Esophagitis, Growth delay, Decreased serum zinc |
ORPHA:541423 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Glucose intolerance, Type II diabetes mellitus, Gout, Osteoporosis, Impaired glucose tolerance |
OMIM:610947 |
Hemochromatosis, Neonatal |
|
Abnormality of iron homeostasis, Intrauterine growth retardation, Increased circulating iron conc... |
OMIM:231100 |
Cataract 1, Multiple Types |
|
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract |
OMIM:116200 |
Lysinuric Protein Intolerance |
|
Diarrhea, Vomiting, Failure to thrive, Increased circulating ferritin concentration, Decreased HD... |
ORPHA:470 |
Brittle Cornea Syndrome |
|
Corneal scarring, Increased susceptibility to fractures, Mitral valve prolapse, Joint hypermobili... |
ORPHA:90354 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy |
OMIM:602082 |
Neonatal Hemochromatosis |
|
Increased circulating iron concentration, Increased circulating ferritin concentration |
ORPHA:446 |
Hjv Or Hamp-Related Hemochromatosis |
|
Abnormality of iron homeostasis, Elevated transferrin saturation, Increased circulating ferritin ... |
ORPHA:79230 |
Leber Congenital Amaurosis 4 |
|
Keratoconus |
OMIM:604393 |
Dermatitis, Atopic |
|
Conjunctivitis, Keratoconus, Cataract |
OMIM:603165 |
Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
Vernal Keratoconjunctivitis |
|
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... |
ORPHA:70476 |
Anterior Segment Dysgenesis 6 |
|
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... |
OMIM:617315 |
X-Linked Sideroblastic Anemia |
|
Abnormality of iron homeostasis |
ORPHA:75563 |
Keratoconus Posticus Circumscriptus |
|
Central posterior corneal opacity, Keratoconus, Limited elbow extension and supination, Abnormal ... |
OMIM:244600 |
Leber Congenital Amaurosis 2 |
|
Cataract, Keratoconus |
OMIM:204100 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Gastroesophageal reflux, Abnormal circulating selenium concentration, Foot joint contracture, Atr... |
ORPHA:79408 |
Copper Deficiency, Familial Benign |
|
Decreased circulating copper concentration, Failure to thrive |
OMIM:121270 |
Cataract 23, Multiple Types |
|
Lamellar cataract, Microcornea, Nuclear cataract |
OMIM:610425 |
Leber Congenital Amaurosis |
|
Cataract, Keratoconus |
ORPHA:65 |
Greig Cephalopolysyndactyly Syndrome |
|
Keratoconus, Joint contracture of the hand, Umbilical hernia, Abnormal heart morphology, Hypergly... |
OMIM:175700 |
Hemochromatosis, Type 2B |
|
Elevated transferrin saturation, Increased circulating iron concentration, Increased circulating ... |
OMIM:613313 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract |
OMIM:204000 |
Trichohepatoenteric Syndrome 2 |
|
Decreased circulating iron concentration, Diarrhea, Failure to thrive, Bloody diarrhea, Intrauter... |
OMIM:614602 |
Leber Congenital Amaurosis 8 |
|
Cataract, Keratoconus |
OMIM:613835 |
Hyperferritinemia With Or Without Cataract |
|
Abnormal transferrin saturation, Decreased transferrin saturation, Abnormal circulating iron conc... |
OMIM:600886 |
Mednik Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
ORPHA:171851 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... |
OMIM:107250 |
Intellectual Developmental Disorder With Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Keratoconus |
OMIM:609438 |
Familial Benign Copper Deficiency |
|
Short stature, Decreased circulating copper concentration |
ORPHA:1551 |
Foxp1 Syndrome |
|
Decreased circulating iron concentration, Failure to thrive, Attention deficit hyperactivity diso... |
ORPHA:391372 |
Anemia, Hypochromic Microcytic, With Iron Overload 1 |
|
Increased circulating iron concentration, Elevated hepatic iron concentration |
OMIM:206100 |
Idiopathic Copper-Associated Cirrhosis |
|
Increased circulating copper concentration |
ORPHA:209919 |
Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Astigmatism, Limited wrist extension, Distal arthrogryposis, Congenital finger flexi... |
OMIM:108145 |
Gracile Syndrome |
|
Decreased transferrin saturation, Intrauterine growth retardation, Elevated hepatic iron concentr... |
ORPHA:53693 |
Hemochromatosis, Type 3 |
|
Elevated transferrin saturation, Increased circulating iron concentration, Increased circulating ... |
OMIM:604250 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Elevated transferrin saturation, Unconjugated hyperbilirubinemia, Increased circulating iron conc... |
ORPHA:766 |
Congenital Disorder Of Glycosylation, Type Iiq |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:617395 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Hypoalbuminemia, Failure to thrive, Increased serum bile acid concentration, Short stature, Decre... |
OMIM:242150 |
Huppke-Brendel Syndrome |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
OMIM:614482 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... |
OMIM:122000 |
Cog2-Cdg |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration |
ORPHA:435934 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Insulin-resistant diabetes m... |
ORPHA:293967 |
Microtriplication 11Q24.1 |
|
Keratoconus, Obesity, Limitation of joint mobility |
ORPHA:289522 |
Irida Syndrome |
|
Decreased circulating copper concentration |
ORPHA:209981 |
Congenital Dyserythropoietic Anemia Type Iii |
|
Increased circulating iron concentration, Increased total iron binding capacity, Hyperbilirubinem... |
ORPHA:98870 |
Hemochromatosis, Type 2A |
|
Increased circulating iron concentration, Increased circulating ferritin concentration |
OMIM:602390 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Elevated transferrin saturation, Growth delay, Elevated hepatic iron concentration, Increased cir... |
OMIM:615234 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Decreased circulating iron concentration |
OMIM:212050 |
Hemochromatosis, Type 4 |
|
Elevated transferrin saturation, Increased circulating ferritin concentration |
OMIM:606069 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hyperbilirubinemia, Increased serum bile acid concentration, Increased total iron binding capacity |
OMIM:616278 |
Costello Syndrome |
|
Keratoconus, Hypertrophic cardiomyopathy, Failure to thrive in infancy, Abnormal dental enamel mo... |
ORPHA:3071 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Abnormal circulating copper concentration |
ORPHA:521411 |
Beta-Thalassemia |
|
Abnormality of iron homeostasis |
ORPHA:848 |
Aceruloplasminemia |
|
Decreased circulating iron concentration, Aceruloplasminemia, Increased circulating ferritin conc... |
OMIM:604290 |
Leber Congenital Amaurosis 9 |
|
Keratoconus, Macular scar |
OMIM:608553 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Elevated ... |
ORPHA:300298 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormality of iron homeostasis, Elevated transferrin saturation, Weight loss, Increased circulat... |
ORPHA:465508 |
Arterial Tortuosity Syndrome |
|
Aortic valve stenosis, Keratoconus, Ventricular hypertrophy, Umbilical hernia, Astigmatism, Conge... |
OMIM:208050 |
Warburg-Cinotti Syndrome |
|
Symblepharon, Ankle flexion contracture, Elbow flexion contracture, Corneal neovascularization, L... |
OMIM:618175 |
Trichohepatoenteric Syndrome 1 |
|
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Intractable diarrh... |
OMIM:222470 |
Hypermanganesemia With Dystonia 1 |
|
Unconjugated hyperbilirubinemia, Hypermanganesemia, Increased total iron binding capacity |
OMIM:613280 |
Retinitis Pigmentosa |
|
Keratoconus, Posterior subcapsular cataract, Hyperinsulinemia, Obesity, Type II diabetes mellitus |
ORPHA:791 |
Porphyria Cutanea Tarda |
|
Increased circulating iron concentration, Increased circulating ferritin concentration, Corneal s... |
ORPHA:101330 |
Aceruloplasminemia |
|
Decreased circulating iron concentration, Increased circulating ferritin concentration, Acerulopl... |
ORPHA:48818 |
Alagille Syndrome |
|
Keratoconus, Failure to thrive, Abnormal pupil morphology, Ventricular septal defect, Atrial sept... |
ORPHA:52 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Self-injurious behavior, Motor stereotypy, Constipation, High nonceruloplasmin-bound serum copper |
ORPHA:457351 |
Down Syndrome |
|
Keratoconus, Cataract, Secundum atrial septal defect, Umbilical hernia, Tetralogy of Fallot, Atri... |
ORPHA:870 |
Dominant Beta-Thalassemia |
|
Diarrhea, Failure to thrive in infancy, Delayed puberty, Abnormality of iron homeostasis, Growth ... |
ORPHA:231226 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Inguinal hernia, Joint hypermob... |
ORPHA:3342 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus |
ORPHA:401777 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus, Patent foramen ovale |
ORPHA:542306 |
Dietary Iron Overload Disease |
|
Peritonitis, Elevated transferrin saturation, Elevated hepatic iron concentration, Increased circ... |
ORPHA:139507 |
Syndromic Diarrhea |
|
Intractable diarrhea, Bloody diarrhea, Intrauterine growth retardation, Inguinal hernia, Colitis,... |
ORPHA:84064 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin concentration |
OMIM:620306 |
Gapo Syndrome |
|
Joint hypermobility, Keratoconus, Umbilical hernia, Decreased skull ossification |
ORPHA:2067 |
Beta-Thalassemia Major |
|
Diarrhea, Failure to thrive in infancy, Delayed puberty, Abnormality of iron homeostasis, Growth ... |
ORPHA:231214 |
Hemochromatosis, Type 1 |
|
Increased circulating iron concentration, Increased circulating ferritin concentration |
OMIM:235200 |
Nail-Patella Syndrome |
|
Keratoconus, Microcornea, Cataract, Limited elbow extension, Lester's sign, Antecubital pterygium... |
OMIM:161200 |
Beta-Thalassemia Intermedia |
|
Abnormality of iron homeostasis, Elevated hepatic iron concentration |
ORPHA:231222 |
Lacrimoauriculodentodigital Syndrome |
|
Abnormal dental enamel morphology, Limbal stem cell deficiency, Corneal neovascularization, Recur... |
ORPHA:2363 |
Angelman Syndrome |
|
Iris hypopigmentation, Keratoconus, Obesity, Astigmatism |
ORPHA:72 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal blood inorganic cation concentration, Increased total iron binding capacity, Hyperglycin... |
ORPHA:309854 |
Immunodeficiency 47 |
|
Failure to thrive, Exocrine pancreatic insufficiency, Hypercholesterolemia, Chronic diarrhea, Dec... |
OMIM:300972 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Keratoconus, Microcornea, Osteopenia, Inguinal hernia, Joint hypermobility, Osteoporosis |
OMIM:225400 |
Gapo Syndrome |
|
Keratoconus, Umbilical hernia, Megalocornea, Joint hypermobility, Shallow anterior chamber |
OMIM:230740 |
Wilson Disease |
|
Hypouricemia, Hypoalbuminemia, Chondrocalcinosis, Vomiting, Hyperbilirubinemia, Increased circula... |
OMIM:277900 |
Occipital Horn Syndrome |
|
Chronic diarrhea, Hiatus hernia, Decreased circulating ceruloplasmin concentration, Decreased cir... |
OMIM:304150 |
Wrinkly Skin Syndrome |
|
Failure to thrive, Umbilical hernia, Postnatal growth retardation, Intrauterine growth retardatio... |
ORPHA:2834 |
Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Atypical scarring of skin, Limitation of joint mobility, Umbilical hernia, Cystocele... |
ORPHA:285 |
Acute Transverse Myelitis |
|
Paralytic ileus, Gastroparesis, Decreased circulating copper concentration, Constipation |
ORPHA:139417 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Keratoconus, Hypermobility of interphalangeal joints, Foot acroosteolysis, Cigarette-paper scars,... |
OMIM:130050 |
Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Decreased circulating iron concentration |
OMIM:616959 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Decreased circulating iron concentration, Gastroesophageal reflux, Uterine prolapse, Stereotypica... |
ORPHA:438213 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Decreased circulating iron concentration, Reduced haptoglobin level, Increased blood urea nitroge... |
ORPHA:447 |
Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Cigarette-paper scars, Umbilical hernia, Abnormal heart valve morphology, Abnormal p... |
ORPHA:286 |
Ziegler-Huang Syndrome |
|
Intrauterine growth retardation, Growth delay |
OMIM:620501 |