Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Corneal Dystrophy, Band-Shaped |
|
Band-shaped corneal dystrophy |
OMIM:217500 |
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
|
Punctate corneal dystrophy |
OMIM:183850 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Cornea Plana 1, Autosomal Dominant |
|
Flat cornea |
OMIM:121400 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions |
OMIM:121820 |
Obesity |
|
Increased waist to hip ratio, Obesity, Decreased resting energy expenditure |
OMIM:601665 |
Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet |
|
Posterior corneal stroma punctiform multicolored opacities |
OMIM:619871 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
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 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Plin1-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
ORPHA:280356 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
ORPHA:79085 |
Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
|
Hypertriglyceridemia, Increased adipose tissue, Hyperinsulinemia, Obesity, Type II diabetes melli... |
ORPHA:71529 |
Lipe-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435660 |
Cidec-Related Familial Partial Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, ... |
ORPHA:435651 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Decreased adiponectin level, Decreased serum l... |
OMIM:615238 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Decreased response to growth hormone stimulation test, Increased adipose tissue, Gonadotropin def... |
ORPHA:71526 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hepatic steat... |
ORPHA:79084 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Lipodystrophy, Familial Partial, Type 3 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hypertriglycer... |
OMIM:604367 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal dystrophy, Corneal guttata |
OMIM:610158 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
Hyperinsulinemic Hypoglycemia, Familial, 5 |
|
Hypoglycemic seizures, Fasting hyperinsulinemia, Elevated circulating insulin:C-peptide ratio, Hy... |
OMIM:609968 |
Mody |
|
Large for gestational age, Overweight, Transient neonatal diabetes mellitus, Insulin-resistant di... |
ORPHA:552 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hypoglycemia, Hyperinsulinemia, Hypoglycemic seizures, Pancreatic islet-cell hyperplasia, Hyperin... |
OMIM:610021 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Hypoglycemia, Large for gestational age, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyp... |
OMIM:601820 |
Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
Hyperinsulinemic Hypoglycemia, Familial, 1 |
|
Large for gestational age, Pancreatic islet-cell hyperplasia, Hypoglycemic seizures, Hyperinsulin... |
OMIM:256450 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Hyperinsulinemic Hypoglycemia, Familial, 3 |
|
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:602485 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea |
ORPHA:83461 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal dystrophy, Corneal guttata |
OMIM:613268 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma |
ORPHA:1473 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Hypertriglyceridemia, Reduced intraabdominal a... |
ORPHA:363400 |
Congenital Glucokinase-Related Hyperinsulinism |
|
Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsulinemic hyp... |
ORPHA:79299 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1 |
|
Diabetes mellitus, Dorsocervical fat pad, Delayed thelarche, Hyperinsulinemic hypoglycemia, Delay... |
OMIM:616033 |
Body Mass Index Quantitative Trait Locus 19 |
|
Hypertriglyceridemia, Insulin resistance, Hyperlipidemia, Hyperinsulinemia, Obesity, Increased se... |
OMIM:617885 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy |
|
Nonketotic hypoglycemia, Large for gestational age, Increased circulating free fatty acid level, ... |
ORPHA:293964 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... |
ORPHA:263458 |
Lipodystrophy, Familial Partial, Type 2 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... |
OMIM:151660 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Small for gestational age, Ketotic hypoglycemia, Maturity-onset diabetes of the you... |
ORPHA:324575 |
Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
Insulin Autoimmune Syndrome |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... |
ORPHA:411593 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
Mandibuloacral Dysplasia |
|
Loss of subcutaneous adipose tissue in limbs, Hypertriglyceridemia, Lipoatrophy, Increased subcut... |
ORPHA:2457 |
Hyperinsulinemic Hypoglycemia, Familial, 4 |
|
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:609975 |
Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Lipodystrophy, Precocious puberty in females, Hypertriglyceridem... |
ORPHA:528 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Elevated hepatic transaminase, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia |
ORPHA:329249 |
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... |
ORPHA:280365 |
Obesity Due To Sim1 Deficiency |
|
Glucose intolerance, Hyperinsulinemia, Obesity, Increased resting energy expenditure |
ORPHA:369873 |
Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
Proprotein Convertase 1/3 Deficiency |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Reactive hypoglycemia, Obesi... |
OMIM:600955 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Hepatomegaly, Maternal diabetes, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizur... |
ORPHA:276580 |
Obesity Due To Congenital Leptin Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:66628 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypoglycemia, Decreased circulating... |
ORPHA:453533 |
Insulinomatosis And Diabetes Mellitus |
|
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... |
OMIM:147630 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant d... |
ORPHA:179494 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
Herpes Simplex Virus Stromal Keratitis |
|
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... |
ORPHA:137599 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Diabetes mellit... |
OMIM:608594 |
Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Hepatomegaly, Large for gestational age, Hyperinsulinemia, Hypoglycemic seizures, Fasting hypogly... |
ORPHA:276575 |
Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
Hyperinsulinemic Hypoglycemia, Familial, 6 |
|
Abnormality of the pancreatic islet cells, Failure to thrive, Hypoglycemic seizures, Hyperinsulin... |
OMIM:606762 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Pancreatic islet-cell hyperplasia... |
ORPHA:276608 |
Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Failure to thrive, Hyperinsulinemia, Hypoglycemia |
OMIM:606528 |
Idiopathic Congenital Hypothyroidism |
|
Hypothermia, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactiv... |
ORPHA:95717 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Abnormal circulating leptin concentration, Insulin-resistant diabetes... |
ORPHA:2298 |
Mucolipidosis Iv |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated hepatic transaminase, Acute pancreati... |
OMIM:269700 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Developmental cataract |
OMIM:618815 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, H... |
OMIM:620211 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Retinitis Pigmentosa |
|
Hyperinsulinemia, Obesity, Atypical scarring of skin, Hypogonadism, Type II diabetes mellitus |
ORPHA:791 |
Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Insu... |
ORPHA:79086 |
Donohue Syndrome |
|
Precocious puberty, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Severe failure to thrive,... |
OMIM:246200 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Solitary Fibrous Tumor |
|
Abnormal peritoneum morphology, Hypoglycemia, Weight loss, Neoplasm of the liver, Recurrent hypog... |
ORPHA:2126 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Decreased adipose tissue around neck, Insulin-resis... |
OMIM:608612 |
Obesity And Hypopigmentation |
|
Hepatic steatosis, Hyperinsulinemia, Obesity |
OMIM:620195 |
Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Keloids |
ORPHA:3085 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Hy... |
ORPHA:95716 |
Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity |
ORPHA:317 |
Leptin Deficiency Or Dysfunction |
|
Hypogonadism, Obesity, Decreased serum leptin |
OMIM:614962 |
Perlman Syndrome |
|
Hepatomegaly, Inguinal hernia, Femoral hernia, Abnormal pancreas morphology, Hyperinsulinemia |
ORPHA:2849 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Hypothermia, Large for gestational age, Elevated circulating thyroid-stimulating hormone concentr... |
ORPHA:226313 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism |
OMIM:152950 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Hepatomegaly, Reactive hypoglycemia, Large for gestational age, Hypoglycemic seizures, Recurrent ... |
ORPHA:276556 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Hepatomegaly, ... |
OMIM:248370 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
Bartsocas-Papas Syndrome 2 |
|
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium |
OMIM:619339 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Abnormality of the pancreatic islet cells, Fastin... |
ORPHA:97279 |
Bdv Syndrome |
|
Decreased thyroid-stimulating hormone level, Hypogonadotropic hypogonadism, Hyperinsulinemia, Obe... |
OMIM:619326 |
Hyperinsulinism-Hyperammonemia Syndrome |
|
Fasting hyperinsulinemia, Reactive hypoglycemia, Hyperinsulinemic hypoglycemia |
ORPHA:35878 |
Harel-Yoon Syndrome |
|
Corneal opacity, Developmental cataract |
OMIM:617183 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Precocious puberty, Insulin-resistant diabetes mellitus,... |
OMIM:262190 |
Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
Galactokinase Deficiency |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Hypoglycemia, Small for gestational age, Hyperinsul... |
ORPHA:79237 |
Fish-Eye Disease |
|
Corneal opacity |
ORPHA:79292 |
Body Mass Index Quantitative Trait Locus 20 |
|
Hyperinsulinemia, Obesity |
OMIM:618406 |
Sialidosis Type 2 |
|
Corneal opacity |
ORPHA:87876 |
Scheie Syndrome |
|
Corneal opacity |
OMIM:607016 |
Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity |
ORPHA:290 |
Riboflavin Deficiency |
|
Hypoglycemia, Hypothermia |
OMIM:615026 |
Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Lipodystrophy, Splenomegaly, I... |
OMIM:613327 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Hyperinsulinemia, Increas... |
ORPHA:263455 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity |
OMIM:613153 |
Neurotrophic Keratopathy |
|
Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosions, Corneal perfora... |
ORPHA:137596 |
Sjogren-Larsson Syndrome |
|
Astigmatism, Opacification of the corneal epithelium |
OMIM:270200 |
Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Corneal opacity |
OMIM:166300 |
Short Syndrome |
|
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... |
ORPHA:3163 |
Alpha-Mannosidosis |
|
Cataract, Corneal opacity |
ORPHA:61 |
Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Elevated circulating growth hormone concentration, Neonatal hypoglycemia, Large for gestational a... |
ORPHA:79644 |
Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Hypoglycemia, Hypothermia |
OMIM:610006 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea |
OMIM:615145 |
Hurler-Scheie Syndrome |
|
Corneal opacity |
ORPHA:93476 |
Tenorio Syndrome |
|
Hypoglycemia, Hypoinsulinemia |
OMIM:616260 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Conjunctivitis, Corneal opacity |
OMIM:602562 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity |
ORPHA:1064 |
Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma |
OMIM:271630 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Hypoglycemia, Portal hypertension... |
OMIM:251880 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Hypothermia, Elevate... |
OMIM:245400 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity |
ORPHA:281090 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca |
ORPHA:1806 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Hypothermia, Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased ra... |
ORPHA:90673 |
Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... |
ORPHA:276152 |
Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity |
ORPHA:2788 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Failure to thrive, Hypercholesterolemia, Hypothermia... |
ORPHA:90674 |
Atypical Werner Syndrome |
|
Hepatic steatosis, Failure to thrive, Diabetes mellitus, Lipoatrophy, Hypertriglyceridemia, Abnor... |
ORPHA:79474 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity |
ORPHA:1867 |
Rodrigues Blindness |
|
Microcornea, Sclerocornea |
OMIM:268320 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity |
ORPHA:496790 |
Mpi-Cdg |
|
Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver function, Hyperinsulinemic h... |
ORPHA:79319 |
Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
Microphthalmia With Brain And Digit Anomalies |
|
Microcornea, Cataract, Iris coloboma, Sclerocornea |
ORPHA:139471 |
Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
Bangstad Syndrome |
|
Abnormality of the parathyroid gland, Hyperinsulinemia, Increased circulating cortisol level, Pri... |
ORPHA:1227 |
Estrogen Resistance |
|
Increased circulating osteocalcin level, Impaired glucose tolerance, Hyperinsulinemia, Increased ... |
OMIM:615363 |
Sialidosis Type 1 |
|
Cataract, Corneal opacity |
ORPHA:812 |
Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Increased circulating free fatty acid level... |
ORPHA:71212 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Failure to thrive, Steatorrhea, Hepatic fibrosis, Cirrhosis, Hyperinsulinemic hypog... |
OMIM:602579 |
Lcat Deficiency |
|
Corneal opacity |
ORPHA:650 |
Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
Oculomaxillofacial Dysostosis |
|
Corneal opacity |
ORPHA:1794 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cyanosis, Hypothermia, Fasting hypoglycemia, Hepatic... |
ORPHA:159 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Abnormal cornea morphology, Corneal opacity |
ORPHA:357058 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Chronic active hepatitis, Hypergo... |
OMIM:203800 |
Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
Keppen-Lubinsky Syndrome |
|
Lack of facial subcutaneous fat, Decreased serum leptin, Flexion contracture, Absence of subcutan... |
OMIM:614098 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... |
OMIM:256800 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Hypothermia, Increased ci... |
ORPHA:26793 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
Coloboma, Ocular, Autosomal Dominant |
|
Corneal opacity, Peters anomaly |
OMIM:120200 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Joint contracture, Inguinal hernia, Hypothermia |
OMIM:614498 |
Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Corneal opacity |
ORPHA:1234 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... |
OMIM:612109 |
Alpha-Mannosidosis, Adult Form |
|
Cataract, Corneal opacity |
ORPHA:309288 |
Al-Gazali Syndrome |
|
Corneal opacity, Sclerocornea |
OMIM:609465 |
Dyschondrosteosis-Nephritis Syndrome |
|
Corneal opacity |
ORPHA:1765 |
Lowry-Maclean Syndrome |
|
Developmental glaucoma, Megalocornea, Corneal opacity |
ORPHA:2409 |
Zellweger Syndrome |
|
Brushfield spots, Posterior embryotoxon, Corneal opacity, Cataract |
ORPHA:912 |
Estrogen Resistance Syndrome |
|
Increased circulating gonadotropin level, Absence of secondary sex characteristics, Hyperinsuline... |
ORPHA:785 |
Mucolipidosis Type Iv |
|
Corneal opacity |
ORPHA:578 |
Walker-Warburg Syndrome |
|
Microcornea, Cataract, Corneal opacity, Iris coloboma |
ORPHA:899 |
8Q21.11 Microdeletion Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation |
ORPHA:284160 |
Congenital Sialidosis Type 2 |
|
Cataract, Corneal opacity, Developmental cataract |
ORPHA:93400 |
Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity |
ORPHA:93399 |
Nestor-Guillermo Progeria Syndrome |
|
Failure to thrive, Flexion contracture, Lipoatrophy, Decreased serum leptin |
OMIM:614008 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Astigmatism, Corneal opacity |
OMIM:301056 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
Timothy Syndrome |
|
Hypothyroidism, Hypothermia, Hypoglycemia |
OMIM:601005 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Increased pineal volume, Impaired glucose tolerance, Precoci... |
ORPHA:769 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Hypoglycemia, Hypothermia, Bile duct proliferation, Macrovesicular... |
OMIM:618329 |
Oculocerebrocutaneous Syndrome |
|
Corneal opacity, Iris coloboma |
ORPHA:1647 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Conjunctival hyperemia, Cataract, Corneal opacity |
ORPHA:2399 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... |
ORPHA:300373 |
Wagro Syndrome |
|
Aniridia, Cataract, Corneal opacity |
OMIM:612469 |
Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Developmental cataract |
OMIM:616603 |
Scheie Syndrome |
|
Corneal opacity |
ORPHA:93474 |
Cystinosis |
|
Corneal opacity |
ORPHA:213 |
Primary Erythromelalgia |
|
Hypothermia |
ORPHA:90026 |
Multiple Sulfatase Deficiency |
|
Cataract, Corneal opacity |
ORPHA:585 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Insulin resistance, Hyperinsulinemia, Central ... |
ORPHA:508 |
Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
Dopamine Beta-Hydroxylase Deficiency |
|
Insulin resistance, Hyperinsulinemia, Hypothermia, Hypoglycemia |
ORPHA:230 |
Short Fifth Metacarpals-Insulin Resistance Syndrome |
|
Splenomegaly, Hyperinsulinemia |
ORPHA:66518 |
Familial Dysautonomia |
|
Abnormal pupil morphology, Heterochromia iridis, Corneal erosion, Corneal opacity |
ORPHA:1764 |
Mucolipidosis Iii Gamma |
|
Opacification of the corneal stroma |
OMIM:252605 |
Spontaneous Periodic Hypothermia |
|
Hypothermia |
ORPHA:29822 |
3Q29 Microduplication Syndrome |
|
Aniridia, Cataract, Iris coloboma, Sclerocornea |
ORPHA:251038 |
Developmental And Epileptic Encephalopathy 78 |
|
Hypothermia |
OMIM:618557 |
Sanjad-Sakati Syndrome |
|
Astigmatism, Corneal opacity |
ORPHA:2323 |
Rett Syndrome |
|
Failure to thrive, Cholecystitis, Increased serum leptin |
ORPHA:778 |
Coenzyme Q10 Deficiency, Primary, 5 |
|
Hypothermia |
OMIM:614654 |
Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular anterior segment dy... |
OMIM:612582 |
Hurler-Scheie Syndrome |
|
Corneal opacity |
OMIM:607015 |
Mucopolysaccharidosis, Type Ivb |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:253010 |
Gm1 Gangliosidosis |
|
Corneal opacity |
ORPHA:354 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Ocular albinism, Cataract, Corneal opacity, Iris hypopigmentation |
ORPHA:2719 |
Farber Disease |
|
Abnormal conjunctiva morphology, Corneal opacity, Opacification of the corneal stroma |
ORPHA:333 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Nonketotic hypoglycemia, Hypothe... |
ORPHA:20 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Opacification of the corneal stroma, Anterior chamber synechiae |
OMIM:601499 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microcornea, Ectopia pupillae, Cataract, Sclerocornea |
OMIM:615877 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma |
OMIM:215250 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Hypothermia, Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Co... |
OMIM:218700 |
Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma |
OMIM:256540 |
Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity |
ORPHA:1830 |
Stromme Syndrome |
|
Cataract, Sclerocornea, Microcornea, Peters anomaly, Iris coloboma |
OMIM:243605 |
Fucosidosis |
|
Corneal opacity |
ORPHA:349 |
Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Corneal crystals |
OMIM:210370 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Corneal opacity |
OMIM:163200 |
Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
Gorlin-Chaudhry-Moss Syndrome |
|
Astigmatism, Sclerocornea |
ORPHA:2095 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Iris coloboma, Sclerocornea |
ORPHA:77298 |
Mucopolysaccharidosis Type 7 |
|
Corneal opacity |
ORPHA:584 |
Hurler Syndrome |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:607014 |
Multiple Sulfatase Deficiency |
|
Corneal opacity |
OMIM:272200 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Buphthalmos, Peters anomaly, Megalocornea |
OMIM:236670 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypothermia |
OMIM:616501 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hypothermia, Flexion contracture, Fail... |
ORPHA:17 |
Apolipoprotein A-I Deficiency |
|
Opacification of the corneal stroma |
ORPHA:425 |
Menkes Disease |
|
Inguinal hernia, Hypoglycemia, Hypothermia, Atypical scarring of skin, Hernia, Prolonged neonatal... |
ORPHA:565 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Limb joint contracture, Small for gestational age, D... |
ORPHA:404454 |
Mucopolysaccharidosis Type 4 |
|
Corneal opacity |
ORPHA:582 |
Focal Dermal Hypoplasia |
|
Hypoplasia of the iris, Corneal opacity, Iris coloboma, Ectopia lentis |
ORPHA:2092 |
Gomez-Lopez-Hernandez Syndrome |
|
Opacification of the corneal stroma |
OMIM:601853 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Elbow flexion contracture, Obesity, Hypothermia |
OMIM:618493 |
Tangier Disease |
|
Opacification of the corneal stroma |
OMIM:205400 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Limbal dermoid, Sclerocornea |
OMIM:613001 |
Wilson Disease |
|
Kayser-Fleischer ring |
ORPHA:905 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity |
OMIM:259600 |
Mucopolysaccharidosis, Type Vii |
|
Corneal opacity |
OMIM:253220 |
Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Corneal opacity |
OMIM:601812 |
Hutchinson-Gilford Progeria Syndrome |
|
Cyanosis, Female hypogonadism, Decreased serum leptin, Insulin resistance, Absence of subcutaneou... |
ORPHA:740 |
Mosaic Trisomy 9 |
|
Corneal opacity |
ORPHA:99776 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Elevated hepatic transaminase, Cyanosis, Decreased response to growth hormone stimulation test, C... |
ORPHA:293987 |
De Barsy Syndrome |
|
Cataract, Corneal opacity |
ORPHA:2962 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
ORPHA:168593 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Corneal crystals |
OMIM:219900 |
Incontinentia Pigmenti |
|
Keratitis, Cataract, Corneal opacity |
ORPHA:464 |
Mosaic Trisomy 8 |
|
Corneal opacity |
ORPHA:96061 |
Congenital Enterovirus Infection |
|
Hypothermia, Hepatic failure, Hepatitis, Cholestasis |
ORPHA:292 |
Mucolipidosis Iii Alpha/Beta |
|
Opacification of the corneal stroma, Hyperopic astigmatism |
OMIM:252600 |
Orthostatic Hypotension 1 |
|
Neonatal hypoglycemia, Intermittent hypothermia, Reduced circulating prolactin concentration |
OMIM:223360 |
Fryns Syndrome |
|
Corneal opacity |
ORPHA:2059 |
Alexander Disease |
|
Diabetes mellitus, Hypothermia, Precocious puberty, Failure to thrive, Hypothyroidism |
ORPHA:58 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Brushfield spots, Cataract, Opacification of the corneal stroma |
OMIM:214110 |
Pseudo-Torch Syndrome 1 |
|
Cataract, Opacification of the corneal stroma |
OMIM:251290 |
3Mc Syndrome 3 |
|
Corneal opacity |
OMIM:248340 |
Dyggve-Melchior-Clausen Disease |
|
Corneal opacity |
ORPHA:239 |
Tbck-Related Intellectual Disability Syndrome |
|
Corneal opacity |
ORPHA:488632 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Posterior subcapsular cataract, Megalocornea, Corneal opacity, Iris coloboma |
ORPHA:536471 |
Mucopolysaccharidosis Type 1 |
|
Corneal opacity |
ORPHA:579 |
Alpha-Mannosidosis, Infantile Form |
|
Astigmatism, Corneal opacity, Cataract |
ORPHA:309282 |
Prader-Willi Syndrome |
|
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Failure to ... |
OMIM:176270 |
Menkes Disease |
|
Hypothermia |
OMIM:309400 |
Mucopolysaccharidosis Type 3 |
|
Cataract, Corneal opacity, Opacification of the corneal stroma |
ORPHA:581 |
Hurler Syndrome |
|
Corneal opacity |
ORPHA:93473 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Sclerocornea |
OMIM:614230 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Corneal neovascularization, Opacification of the corneal stroma, Keratoconjunctivitis |
OMIM:158310 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Cholelithiasis, Small for gestational age, Hypothermia |
OMIM:618775 |
Histiocytoid Cardiomyopathy |
|
Megalocornea, Corneal opacity, Congenital aphakia |
ORPHA:137675 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity |
ORPHA:364577 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris, Ectopia ... |
OMIM:175780 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Astigmatism, Corneal opacity |
ORPHA:464311 |
Moebius Syndrome |
|
Corneal opacity |
ORPHA:570 |
Carpenter Syndrome 1 |
|
Microcornea, Opacification of the corneal stroma |
OMIM:201000 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Astigmatism, Corneal opacity |
ORPHA:464306 |
Fabry Disease |
|
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy |
ORPHA:324 |
Woodhouse-Sakati Syndrome |
|
Streak ovary, Decreased response to growth hormone stimulation test, Insulin-resistant diabetes m... |
ORPHA:3464 |
Meningococcal Meningitis |
|
Hypothermia |
ORPHA:33475 |
Mosaic Variegated Aneuploidy Syndrome |
|
Cataract, Corneal opacity |
ORPHA:1052 |
Schimke Immunoosseous Dysplasia |
|
Astigmatism, Opacification of the corneal stroma |
OMIM:242900 |
Congenital Disorder Of Deglycosylation 1 |
|
Corneal ulceration, Corneal opacity |
OMIM:615273 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Iris coloboma, Sclerocornea, Peters anomaly |
OMIM:309801 |
Oculocerebrorenal Syndrome Of Lowe |
|
Cataract, Corneal opacity, Abnormal pupil morphology, Buphthalmos, Lentiglobus |
ORPHA:534 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Jaundice, Failure to thrive, Hypoglycemia, Hypothermia |
ORPHA:79282 |
Occipital Horn Syndrome |
|
Inguinal hernia, Femoral hernia, Scarring, Hypothermia, Hiatus hernia, Jaundice, Hepatitis, Chole... |
ORPHA:198 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity |
ORPHA:79396 |
Mucopolysaccharidosis, Type Vi |
|
Corneal opacity |
OMIM:253200 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Sclerocornea |
OMIM:300952 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Buphthalmos, Keratoconjunctivitis sicca, Corneal opacity, Corneal dystrophy |
ORPHA:495875 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... |
ORPHA:649 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... |
ORPHA:99413 |
Turner Syndrome |
|
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... |
ORPHA:881 |
Mosaic Monosomy X |
|
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... |
ORPHA:99228 |
Monosomy X |
|
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Inc... |
ORPHA:99226 |
Encephalocraniocutaneous Lipomatosis |
|
Corneal opacity, Iris coloboma |
ORPHA:2396 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Corneal opacity |
OMIM:274000 |
Mucopolysaccharidosis Type 6 |
|
Opacification of the corneal stroma |
ORPHA:583 |
Ablepharon Macrostomia Syndrome |
|
Corneal erosion, Corneal opacity |
ORPHA:920 |
Phace Syndrome |
|
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma |
ORPHA:42775 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Hypothermia |
OMIM:608800 |
Lathosterolosis |
|
Microcornea, Cataract, Opacification of the corneal stroma |
ORPHA:46059 |
Tangier Disease |
|
Corneal opacity |
ORPHA:31150 |
Larsen Syndrome |
|
Corneal opacity |
OMIM:150250 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Brushfield spots, Cataract, Opacification of the corneal stroma |
OMIM:214100 |
Microphthalmia With Linear Skin Defects Syndrome |
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Posterior embryotoxon, Corneal opacity, Sclerocornea |
ORPHA:2556 |
Atelis Syndrome 2 |
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Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia |
OMIM:620185 |
Proboscis Lateralis |
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Microcornea, Cataract, Corneal opacity, Iris coloboma |
ORPHA:141099 |
Chime Syndrome |
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Corneal opacity |
ORPHA:3474 |
Mucopolysaccharidosis, Type Iva |
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Opacification of the corneal stroma |
OMIM:253000 |
Steinert Myotonic Dystrophy |
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Elevated hepatic transaminase, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased respo... |
ORPHA:273 |
Oculoectodermal Syndrome |
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Microcornea, Limbal dermoid, Astigmatism, Opacification of the corneal stroma |
OMIM:600268 |
Adult-Onset Autosomal Dominant Leukodystrophy |
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Flexion contracture, Hypothermia |
ORPHA:99027 |
Galloway-Mowat Syndrome 1 |
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Hypoplasia of the iris, Cataract, Opacification of the corneal stroma |
OMIM:251300 |
Neurofibromatosis Type 1 |
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Corneal opacity, Cataract, Heterochromia iridis, Lisch nodules |
ORPHA:636 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Corneal opacity, Keratitis, Corneal erosion, Astigmatism, Conjunctivitis |
ORPHA:2273 |
Sarcoidosis |
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Hepatomegaly, Hyperthyroidism, Diabetes insipidus, Scarring, Portal hypertension, Hypothermia, Ab... |
ORPHA:797 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
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Brushfield spots, Cataract, Opacification of the corneal stroma |
OMIM:614866 |
Peters Plus Syndrome |
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Cataract, Corneal opacity, Microcornea, Peters anomaly, Iris coloboma, Anterior chamber synechiae |
ORPHA:709 |
Kindler Epidermolysis Bullosa |
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Conjunctivitis, Corneal opacity |
ORPHA:2908 |
Meckel Syndrome |
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Microcornea, Aplasia/Hypoplasia of the iris, Cataract, Sclerocornea |
ORPHA:564 |
Limb Body Wall Complex |
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Lens subluxation, Corneal opacity, Iris coloboma |
ORPHA:2369 |
Microphthalmia, Syndromic 3 |
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Cataract, Sclerocornea |
OMIM:206900 |
Ethylene Glycol Poisoning |
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Cyanosis, Hypothermia |
ORPHA:31826 |
Mitochondrial Dna-Associated Leigh Syndrome |
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Hepatomegaly, Failure to thrive, Hepatic failure, Hypothermia |
ORPHA:255210 |
Mosaic Trisomy 1 |
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Opacification of the corneal stroma |
ORPHA:1692 |
Williams Syndrome |
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Flat cornea, Corneal opacity, Cataract, Blue irides, Aplasia/Hypoplasia of the iris, Megalocornea... |
ORPHA:904 |
Mucopolysaccharidosis Type 2, Severe Form |
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Corneal opacity |
ORPHA:217085 |
Mucopolysaccharidosis Type 2 |
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Corneal opacity |
ORPHA:580 |
Mucopolysaccharidosis Type 2, Attenuated Form |
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Corneal opacity |
ORPHA:217093 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Corneal opacity |
OMIM:608670 |
Smith-Lemli-Opitz Syndrome |
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Cataract, Iris coloboma, Sclerocornea |
ORPHA:818 |
Van Den Ende-Gupta Syndrome |
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Sclerocornea |
OMIM:600920 |
Autosomal Dominant Cutis Laxa |
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Corneal opacity, Developmental cataract |
ORPHA:90348 |
Alström Syndrome |
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Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Gaucher Disease, Type Iiic |
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Opacification of the corneal stroma |
OMIM:231005 |
Wolf-Hirschhorn Syndrome |
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Megalocornea, Iris coloboma, Sclerocornea |
ORPHA:280 |
Wilson Disease |
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Kayser-Fleischer ring |
OMIM:277900 |
Osteogenesis Imperfecta |
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Corneal opacity |
ORPHA:666 |
Xeroderma Pigmentosum |
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Conjunctival telangiectasia, Cataract, Keratitis, Opacification of the corneal stroma, Pterygium |
ORPHA:910 |
Gaucher Disease |
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Corneal opacity |
ORPHA:355 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Corneal opacity |
ORPHA:2072 |
Stuve-Wiedemann Syndrome 1 |
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Opacification of the corneal stroma |
OMIM:601559 |
Bartsocas-Papas Syndrome 1 |
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Popliteal pterygium, Opacification of the corneal stroma, Pterygium, Corneal ulceration, Axillary... |
OMIM:263650 |
Fraser Syndrome 1 |
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Corneal opacity |
OMIM:219000 |
Neuroleptic Malignant Syndrome |
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Elevated hepatic transaminase, Hypothermia |
ORPHA:94093 |
Mucolipidosis Ii Alpha/Beta |
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Megalocornea, Opacification of the corneal stroma |
OMIM:252500 |
Marburg Hemorrhagic Fever |
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Elevated hepatic transaminase, Hypoglycemia, Hypothermia, Jaundice, Pancreatitis |
ORPHA:99826 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Multiple joint contractures, Lipodystrophy, Hypogonadotropic hypog... |
ORPHA:79318 |
Cockayne Syndrome B |
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Microcornea, Hypoplasia of the iris, Opacification of the corneal stroma, Developmental cataract |
OMIM:133540 |
Neurocardiofaciodigital Syndrome |
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Cataract, Sclerocornea |
OMIM:619869 |
Hereditary Acrokeratotic Poikiloderma |
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Opacification of the corneal stroma, Keratoconjunctivitis |
ORPHA:2907 |
Lathosterolosis |
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Cataract, Opacification of the corneal stroma |
OMIM:607330 |
Wiedemann-Rautenstrauch Syndrome |
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Cataract, Corneal opacity |
ORPHA:3455 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Opacification of the corneal stroma |
ORPHA:79280 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Hypothermia, Precocious puberty, Abnormality of the endocrine system, Abnormality of the anterior... |
ORPHA:438213 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Buphthalmos, Megalocornea, Cataract, Opacification of the corneal stroma |
OMIM:253280 |
Cockayne Syndrome A |
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Cataract, Opacification of the corneal stroma |
OMIM:216400 |
Yunis-Varon Syndrome |
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Cataract, Sclerocornea |
ORPHA:3472 |
Roberts-Sc Phocomelia Syndrome |
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Cataract, Corneal opacity, Opacification of the corneal stroma |
OMIM:268300 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
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Atypical scarring of skin, Fasciitis, Hypothermia, Corneal scarring |
ORPHA:642 |
Fryns Syndrome |
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Opacification of the corneal stroma |
OMIM:229850 |
Digeorge Syndrome |
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Posterior embryotoxon, Sclerocornea |
OMIM:188400 |
Microphthalmia, Syndromic 6 |
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Microcornea, Sclerocornea |
OMIM:607932 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
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Keratitis, Opacification of the corneal stroma, Corneal neovascularization, Recurrent corneal ero... |
OMIM:308205 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Opacification of the corneal stroma |
OMIM:615287 |
Yunis-Varon Syndrome |
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Cataract, Sclerocornea |
OMIM:216340 |