| Major Depressive Disorder |
|
Depression |
OMIM:608516 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
| Polycystic Kidney Disease 5 |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... |
OMIM:617610 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Anemia, Thrombocytopenia, Neutropenia, He... |
OMIM:615285 |
| Congenital Megacalycosis |
|
Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R... |
ORPHA:93109 |
| Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
| Immunodeficiency 53 |
|
Neutrophilia, Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract... |
OMIM:617585 |
| Immunodeficiency, Common Variable, 6 |
|
Abnormal T cell count, Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Abnor... |
OMIM:613496 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Thrombocytopenia, Corneal opacity |
ORPHA:1980 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia, Neonatal death |
OMIM:257100 |
| Chronic Myeloid Leukemia |
|
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... |
ORPHA:521 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
| Corneal Dystrophy, Groenouw Type I |
|
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Hepatomegaly, Microcornea, Corneal opacity |
ORPHA:2432 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:3177 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Neutropenia, Steroid-responsive anemia |
OMIM:618310 |
| Lattice Corneal Dystrophy Type I |
|
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... |
ORPHA:98964 |
| Thiel-Behnke Corneal Dystrophy |
|
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... |
ORPHA:98960 |
| Nephronophthisis 3 |
|
Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insufficiency, Protein... |
OMIM:604387 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
| Cataract 21, Multiple Types |
|
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... |
OMIM:610202 |
| Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
| Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
| Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
| Keratitis, Hereditary |
|
Opacification of the corneal stroma, Keratitis |
OMIM:148190 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Macular Dystrophy, Corneal |
|
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy |
OMIM:217800 |
| Nephronophthisis 16 |
|
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Polycystic kidney dysplasi... |
OMIM:615382 |
| Specific Granule Deficiency 1 |
|
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... |
OMIM:245480 |
| Focal Segmental Glomerulosclerosis 7 |
|
Focal segmental glomerulosclerosis, Renal hypoplasia, Stage 5 chronic kidney disease, Proteinuria... |
OMIM:616002 |
| Immunodeficiency 50 |
|
Lymphopenia, Neutropenia, Recurrent urinary tract infections |
OMIM:300988 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Cornea Plana 2, Autosomal Recessive |
|
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal guttata, Corneal stromal edema, Corneal opacity |
OMIM:613267 |
| Ring Dermoid Of Cornea |
|
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... |
OMIM:180550 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hyperechogenic kidneys, Hepatosplenomegaly, Reduced renal corticomedullary differentiation, Hyper... |
OMIM:619902 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... |
OMIM:269400 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki... |
OMIM:618270 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity |
OMIM:608470 |
| X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity |
ORPHA:293621 |
| Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
| Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... |
OMIM:202700 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... |
OMIM:122000 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Hematuria, Posterior embryotoxon, Corneal opacity, Iris coloboma |
ORPHA:1473 |
| Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis |
ORPHA:208441 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity |
ORPHA:1067 |
| Renal Dysplasia |
|
Thickened glomerular basement membrane, Chronic kidney disease, Multicystic kidney dysplasia, Ure... |
ORPHA:93108 |
| Granular Corneal Dystrophy Type Ii |
|
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... |
ORPHA:98963 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Neutropenia, Monocytosis |
OMIM:613107 |
| Lcat Deficiency |
|
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... |
ORPHA:650 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... |
ORPHA:293603 |
| Nephronophthisis 2 |
|
Nephronophthisis, Hyperechogenic kidneys, Stage 5 chronic kidney disease, Absence of renal cortic... |
OMIM:602088 |
| Aa Amyloidosis |
|
Nephropathy, Chronic kidney disease, Acute kidney injury, Renal amyloidosis, Proteinuria, Abnorma... |
ORPHA:85445 |
| Corneal Endothelial Dystrophy |
|
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... |
OMIM:217700 |
| Peters Anomaly |
|
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... |
ORPHA:708 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Pancytopenia, Decreased basophil count, Splenomegaly |
OMIM:618394 |
| Anterior Segment Dysgenesis 6 |
|
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... |
OMIM:617315 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
| Neutropenia, Severe Congenital, 10, Autosomal Recessive |
|
Anorectal abscess, Monocytosis, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620534 |
| Limbal Stem Cell Deficiency |
|
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... |
ORPHA:171673 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... |
OMIM:610256 |
| Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... |
OMIM:309300 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Chronic myelomonocytic leukemia, Leukocytosis, Splenomegaly, Chronic lymphatic... |
ORPHA:98849 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
| Granular Corneal Dystrophy Type I |
|
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... |
ORPHA:98962 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Unilateral renal agenesis, Acute leukemia, Renal insufficiency, Corneal opacity |
ORPHA:281090 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Corneal arcus, Renal insufficiency, Proteinuria, Hemolytic anemia, Normochromic anemia |
OMIM:245900 |
| Anterior Segment Dysgenesis 5 |
|
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... |
OMIM:604229 |
| Keratoendotheliitis Fugax Hereditaria |
|
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis |
OMIM:148200 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating corticosterone level, Decreased circulating aldosterone level, Increased ci... |
OMIM:610600 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Macular Corneal Dystrophy |
|
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... |
ORPHA:98969 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Micropenis, Hypospadias, Developmental cataract, Corneal opacity |
OMIM:618815 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Large for gestational age, Enlarged kidney, Nephroblastoma |
OMIM:618272 |
| Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... |
ORPHA:98974 |
| Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Splenomegaly, ... |
OMIM:263200 |
| Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... |
ORPHA:3077 |
| Epithelial Recurrent Erosion Dystrophy |
|
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... |
ORPHA:293381 |
| Fish-Eye Disease |
|
Hepatomegaly, Splenomegaly, Corneal opacity |
ORPHA:79292 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Depression, Decreased circulating dehydroepiandrosterone concentration, Increased circulating cor... |
OMIM:610489 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... |
ORPHA:98973 |
| Congenital Rubella Syndrome |
|
Cataract, Aplasia/Hypoplasia of the iris, Splenomegaly, Anemia, Thrombocytopenia, Corneal opacity... |
ORPHA:290 |
| Sialidosis Type 2 |
|
Nephropathy, Hepatomegaly, Splenomegaly, Corneal opacity |
ORPHA:87876 |
| Meckel Syndrome, Type 8 |
|
Polycystic kidney dysplasia, Enlarged kidney, Hyperechogenic kidneys |
OMIM:613885 |
| Autosomal Dominant Keratitis |
|
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... |
ORPHA:2334 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease... |
OMIM:614170 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Depression, Increased circulating cortisol level, Pigmented micronodular adrenocortical disease, ... |
OMIM:610475 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
| Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Hypochromic microcytic anemia, Thrombocytopenia, Anemia, Neutropenia |
OMIM:619523 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria, Cornea... |
OMIM:166300 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... |
ORPHA:730 |
| Late-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Increased circulating renin level, Elevated serum 11-deo... |
ORPHA:556037 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Renal hypoplasia, Stage 5 chronic kidney disease, Vesicoureteral reflu... |
OMIM:610805 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Proteinuria, Mucopolysacchariduria, Abnormal T cell morphology, Nephrotic syndrome, Opacification... |
OMIM:215250 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Megaloblastic erythroid hyperplasia, Hypochromic anemia, Pancytopenia, Erythro... |
ORPHA:75564 |
| Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... |
OMIM:107250 |
| Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Splenomegaly, Corneal opacity |
ORPHA:93476 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... |
OMIM:608203 |
| Mucolipidosis Iv |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:252650 |
| Early-Onset Familial Hypoaldosteronism |
|
Decreased circulating aldosterone level, Increased circulating renin level, Elevated serum 11-deo... |
ORPHA:556030 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Pancytopenia, Acute myeloid leukemia, Thrombocytopenia, Neutro... |
OMIM:619041 |
| Brachyolmia Type 1, Hobaek Type |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:271530 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Focal segmental glomerulosclerosis, Nephritis, Leukopenia, Splenomegaly, Proteinuria, Anemia, Neu... |
OMIM:617303 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst, Neutropenia,... |
OMIM:617056 |
| Adrenocortical Carcinoma |
|
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... |
ORPHA:1501 |
| Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
| Multicystic Dysplastic Kidney |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure... |
ORPHA:1851 |
| 46,Xy Sex Reversal 5 |
|
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... |
OMIM:613080 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Stillbirth, Hepatomegaly, Asplenia, Enlarged kidney, Cystic renal dysplasia |
OMIM:615415 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Iron deficiency anemia, Neutropenia, Increased mean platelet volume |
ORPHA:494444 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity |
ORPHA:317 |
| Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
| Immunodeficiency 32B |
|
Impaired oxidative burst, Splenomegaly, Eosinophilia, Anemia, Monocytopenia, Thrombocytopenia, Ne... |
OMIM:226990 |
| Alpha-Mannosidosis |
|
Hepatomegaly, Cataract, Splenomegaly, Corneal opacity |
ORPHA:61 |
| Cortisone Reductase Deficiency 2 |
|
Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio, Premature pubarche |
OMIM:614662 |
| Corneal Dystrophy, Thiel-Behnke Type |
|
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy |
OMIM:602082 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Increased urinary 11-deoxycorticosterone level, Elevated circulating luteinizing hormone level, M... |
ORPHA:90793 |
| Schimke Immuno-Osseous Dysplasia |
|
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Abnormal prop... |
ORPHA:1830 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Unilateral renal agenesis, Aniridia, Developmental glaucoma, Corneal opacity |
ORPHA:1064 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Microcornea, Myopic astigmatism, Astigmatism, Corneal opacity |
OMIM:152950 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Thrombocytosis, Leukocytosis, B lymphocytopenia, Monocytosis |
OMIM:619281 |
| Thrombocytopenia 5 |
|
Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thrombocytopenia,... |
OMIM:616216 |
| Atopic Keratoconjunctivitis |
|
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... |
ORPHA:163934 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Left ventricular hypertrophy, Corneal opacity |
OMIM:613153 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Vesicoureteral reflux, Astigmatism, Hydronephrosis, Hepatomegaly, Micropenis, Thrombo... |
OMIM:301056 |
| Norrie Disease |
|
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... |
OMIM:310600 |
| Sialidosis Type 1 |
|
Aminoaciduria, Cataract, Urinary excretion of sialylated oligosaccharides, Increased urinary O-li... |
ORPHA:812 |
| Harel-Yoon Syndrome |
|
Developmental cataract, Corneal opacity |
OMIM:617183 |
| Glycogen Storage Disease Ib |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Splenomegaly, Nephrolit... |
OMIM:232220 |
| Alpha-Mannosidosis, Adult Form |
|
Cataract, Oligosacchariduria, Hepatosplenomegaly, Pancytopenia, Corneal opacity |
ORPHA:309288 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Nephropathy, Proteinuria, Hematuria, Corneal opacity |
ORPHA:1765 |
| Ophthalmomandibulomelic Dysplasia |
|
Corneal opacity, Megalocornea |
ORPHA:2741 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Cataract, Renal insufficiency, Cardiomegaly, Hydronephrosis, Long-chain dicarboxylic aciduria, He... |
OMIM:608836 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi... |
ORPHA:98957 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydronephrosis, Urethral atresia, Enlarged kidney, Neonatal death |
OMIM:314390 |
| Scheie Syndrome |
|
Hepatomegaly, Mucopolysacchariduria, Splenomegaly, Corneal opacity |
ORPHA:93474 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Polysplenia, Stage 5 chronic kidney disease, Renal insufficiency, Splenomegaly, Ureteral atresia,... |
OMIM:208540 |
| Juvenile Sialidosis Type 2 |
|
Cataract, Visceromegaly, Hepatosplenomegaly, Abnormality of the kidney, Corneal opacity, Hepatome... |
ORPHA:93399 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Proteinuria, Episodic hemolytic anemia, Membranoproliferative glomerulonephritis, Macroscopic hem... |
ORPHA:251004 |
| H Syndrome |
|
Histiocytosis, Microcytic anemia, Hepatosplenomegaly, Abnormality of the kidney, Micropenis, Corn... |
ORPHA:168569 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... |
OMIM:221900 |
| Congenital Primary Aphakia |
|
Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm... |
ORPHA:83461 |
| Diaphanospondylodysostosis |
|
Nephroblastomatosis, Horseshoe kidney, Nephrogenic rest, Enlarged kidney, Cystic renal dysplasia |
OMIM:608022 |
| Bartsocas-Papas Syndrome 2 |
|
Axillary pterygium, Popliteal pterygium, Antecubital pterygium, Corneal opacity |
OMIM:619339 |
| Stromme Syndrome |
|
Accessory spleen, Cataract, Microcornea, Peters anomaly, Bilateral renal hypoplasia, Hydronephros... |
OMIM:243605 |
| Amegakaryocytic Thrombocytopenia, Congenital, 2 |
|
Aplastic anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:620481 |
| Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma, Increased urinary disaccharide excretion |
OMIM:271630 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Cataract, Multicystic kidney dysplasia, Bifid ureter, Transient neutropenia, Astigmatism, Nephrob... |
ORPHA:500095 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, 3-Methylglutaconic aciduria, Corneal opacity |
ORPHA:496790 |
| Denys-Drash Syndrome |
|
Nephropathy, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Nephroblastoma, ... |
OMIM:194080 |
| Cystinosis |
|
Nephropathy, Aminoaciduria, Renal insufficiency, Renal tubular dysfunction, Proteinuria, Corneal ... |
ORPHA:213 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hemophagocytosis, Hepatosplenomegaly, Renal insufficiency, Monocytosis, Membranoproliferative glo... |
OMIM:619644 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Zellweger Syndrome |
|
Cataract, Multicystic kidney dysplasia, Hydronephrosis, Posterior embryotoxon, Corneal opacity, H... |
ORPHA:912 |
| Gm1-Gangliosidosis, Type Iii |
|
Hepatomegaly, Opacification of the corneal stroma, Splenomegaly |
OMIM:230650 |
| Short Syndrome |
|
Hypoplasia of the iris, Megalocornea, Abnormal pupil morphology, Posterior embryotoxon, Abnormal ... |
ORPHA:3163 |
| Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
| Sjogren-Larsson Syndrome |
|
Astigmatism, Opacification of the corneal epithelium |
OMIM:270200 |
| Multiple Sulfatase Deficiency |
|
Cataract, Splenomegaly, Mucopolysacchariduria, Corneal opacity, Hepatomegaly |
ORPHA:585 |
| Al-Gazali Syndrome |
|
Sclerocornea, Hydronephrosis, Corneal opacity |
OMIM:609465 |
| Mietens Syndrome |
|
Sclerocornea, Cataract, Microcornea, Corneal opacity |
ORPHA:2557 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Reduction of neutrophil motility, Neutrophilia |
OMIM:266265 |
| Congenital Sialidosis Type 2 |
|
Cataract, Hepatosplenomegaly, Corneal opacity, Abnormality of the kidney, Developmental cataract,... |
ORPHA:93400 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Acute leukemia, Leukocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Abnormal neutrophil c... |
ORPHA:3226 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Conjunctivitis, Keratitis, Corneal opacity |
OMIM:602562 |
| Schimke Immunoosseous Dysplasia |
|
Focal segmental glomerulosclerosis, Lymphopenia, Pancytopenia, Stage 5 chronic kidney disease, Re... |
OMIM:242900 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity |
ORPHA:2788 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
| Galactosialidosis |
|
Conjunctival telangiectasia, Hepatosplenomegaly, Opacification of the corneal stroma, Visceromegaly |
OMIM:256540 |
| Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
| Bartsocas-Papas Syndrome |
|
Renal hypoplasia/aplasia, Popliteal pterygium, Corneal opacity |
ORPHA:1234 |
| Hurler-Scheie Syndrome |
|
Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in urine, Corneal op... |
OMIM:607015 |
| Kaposiform Lymphangiomatosis |
|
Hepatosplenomegaly, Splenomegaly, Abnormal spleen morphology, Multiple renal cysts, Thrombocytope... |
ORPHA:464329 |
| Igg4-Related Kidney Disease |
|
Chronic kidney disease, Acute kidney injury, Urinary bladder inflammation, Urethritis, Ureteral o... |
ORPHA:449395 |
| Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
| Glycogen Storage Disease Ia |
|
Focal segmental glomerulosclerosis, Decreased glomerular filtration rate, Nephrolithiasis, Protei... |
OMIM:232200 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Depression, Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Inc... |
ORPHA:189427 |
| Microphthalmia/Coloboma 12 |
|
Vesicoureteral reflux, Peters anomaly, Corneal opacity |
OMIM:120200 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heav... |
ORPHA:505248 |
| Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity |
ORPHA:1867 |
| Microphthalmia/Coloboma 9 |
|
Sclerocornea, Microcornea, Iris coloboma, Ocular anterior segment dysgenesis |
OMIM:615145 |
| Relapsing Fever |
|
Acute kidney injury, Abnormality of the urinary system, Leukopenia, Leukocytosis, Hematuria, Thro... |
ORPHA:91547 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Weight loss, Enlarged kidney, Failure to thrive |
ORPHA:79128 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Microcornea, Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy |
ORPHA:1806 |
| Tyrosinemia, Type I |
|
Nephrocalcinosis, Elevated urinary succinylacetone level, Failure to thrive, Renal insufficiency,... |
OMIM:276700 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Iris hypopigmentation, Cataract, Abnormality of the urinary system, Ureteral stenosis, Ocular alb... |
ORPHA:2719 |
| Familial Dysautonomia |
|
Abnormal pupil morphology, Renal insufficiency, Heterochromia iridis, Glomerulopathy, Abnormality... |
ORPHA:1764 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Microcornea, Persistent pupillary membrane, Leukocoria, Developmental cataract, Corneal... |
ORPHA:91495 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Unilateral renal agenesis, Developmental cataract, Corneal opacity |
OMIM:616603 |
| Wagro Syndrome |
|
Cataract, Aniridia, Nephroblastoma, Proteinuria, Corneal opacity |
OMIM:612469 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Nephrocalcinosis, Stage 5 chronic kidney disease, Nephrolithiasis, Proteinuria, Anemia, Tubuloint... |
ORPHA:79259 |
| Multiple Sulfatase Deficiency |
|
Hepatomegaly, Mucopolysacchariduria, Splenomegaly, Corneal opacity |
OMIM:272200 |
| Lowry-Maclean Syndrome |
|
Hypospadias, Corneal opacity, Developmental glaucoma, Megalocornea |
ORPHA:2409 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Abnormality of the kidney, Neutrophilia, Anemia, Liver abscess |
ORPHA:54251 |
| Walker-Warburg Syndrome |
|
Cataract, Microcornea, Corneal opacity, Hypoplasia of penis, Iris coloboma |
ORPHA:899 |
| Wilson Disease |
|
Kayser-Fleischer ring, Splenomegaly, Anemia, Thrombocytopenia, Hepatomegaly |
ORPHA:905 |
| Olmsted Syndrome 1 |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:614594 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Polysplenia, Enlarged kidney, Cystic renal dysplasia |
OMIM:200995 |
| 8Q21.11 Microdeletion Syndrome |
|
Iris hypopigmentation, Cataract, Corneal opacity, Sclerocornea, Hypoplasia of penis |
ORPHA:284160 |
| Fucosidosis |
|
Hepatomegaly, Mucopolysacchariduria, Cardiomegaly, Corneal opacity |
ORPHA:349 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Elliptocytosis, Macrocytic anemia, Anisocytosis, Neutropenia, P... |
OMIM:300835 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Depression, Restlessness, Abnormal fear-induced behavior, Agitation |
ORPHA:100924 |
| Dermochondrocorneal Dystrophy |
|
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities |
OMIM:221800 |
| Rodrigues Blindness |
|
Sclerocornea, Microcornea |
OMIM:268320 |
| Microphthalmia With Brain And Digit Anomalies |
|
Sclerocornea, Cataract, Microcornea, Iris coloboma |
ORPHA:139471 |
| Pseudo-Torch Syndrome 1 |
|
Cataract, Renal insufficiency, Splenomegaly, Thrombocytopenia, Hepatomegaly, Opacification of the... |
OMIM:251290 |
| Mucolipidosis Ii Alpha/Beta |
|
Megalocornea, Splenomegaly, Cardiomegaly, Mucopolysacchariduria, Hepatomegaly, Opacification of t... |
OMIM:252500 |
| Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency, Leukocytosis, Eosinophilia, Neutropenia, Neutrophilia, Conjunctivitis |
ORPHA:293173 |
| Oculomaxillofacial Dysostosis |
|
Corneal opacity |
ORPHA:1794 |
| Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Corneal neovascularization, Hematuria, Keratoconjunctivitis, Eosinophilia, Opacificatio... |
OMIM:158310 |
| Distal Deletion 6P |
|
Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior chamber morpho... |
ORPHA:96125 |
| Mucopolysaccharidosis Type 7 |
|
Mucopolysacchariduria, Splenomegaly, Corneal opacity |
ORPHA:584 |
| Fabry Disease |
|
Nephropathy, Cataract, Renal insufficiency, Conjunctival telangiectasia, Hematuria, Left ventricu... |
ORPHA:324 |
| Mucolipidosis Type Iii Alpha/Beta |
|
Keratan sulfate excretion in urine, Right ventricular hypertrophy, Oligosacchariduria, Corneal op... |
ORPHA:423461 |
| Mosaic Trisomy 9 |
|
Horseshoe kidney, Hydronephrosis, Multiple renal cysts, Corneal opacity, Asplenia, Hypoplasia of ... |
ORPHA:99776 |
| Hurler Syndrome |
|
Heparan sulfate excretion in urine, Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Sple... |
OMIM:607014 |
| Farber Disease |
|
Hepatosplenomegaly, Thrombocytopenia, Corneal opacity, Anemia, Opacification of the corneal strom... |
ORPHA:333 |
| Tangier Disease |
|
Hepatomegaly, Left ventricular hypertrophy, Opacification of the corneal stroma, Splenomegaly |
OMIM:205400 |
| Mucopolysaccharidosis, Type Ivb |
|
Chondroitin sulfate excretion in urine, Keratan sulfate excretion in urine, Corneal opacity, Hepa... |
OMIM:253010 |
| Gm2 Gangliosidosis, Ab Variant |
|
Inappropriate behavior, Abnormal fear-induced behavior |
ORPHA:309246 |
| Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay |
|
Corneal opacity |
OMIM:620469 |
| Beckwith-Wiedemann Syndrome |
|
Nephrocalcinosis, Pancreatic hyperplasia, Renal cortical cysts, Vesicoureteral reflux, Nephroblas... |
OMIM:130650 |
| Ophthalmomandibulomelic Dysplasia |
|
Opacification of the corneal stroma, Megalocornea |
OMIM:164900 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Horseshoe kidney, Hyperphosphaturia, Corneal opacity |
OMIM:163200 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Micropenis, Polycystic kidney dysplasia, Renal dysplasia, Enlarged kidney |
OMIM:613091 |
| Hyperparathyroidism, Transient Neonatal |
|
Splenic cyst, Unilateral renal agenesis, Enlarged kidney |
OMIM:618188 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
| Meacham Syndrome |
|
Accessory spleen, Horseshoe kidney, Neonatal death, Stillbirth, Enlarged kidney |
OMIM:608978 |
| Oculoauricular Syndrome |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Posterior embryoto... |
OMIM:612109 |
| Mucolipidosis Type Iv |
|
Corneal opacity |
ORPHA:578 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... |
OMIM:256800 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Elevated circulating 17-hydroxyprogesterone concentration, Elevated circulating luteinizing hormo... |
ORPHA:95699 |
| Aniridia 1 |
|
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... |
OMIM:106210 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary gonadal insuff... |
ORPHA:90796 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Limbal dermoid, Hydronephrosis, Sclerocornea, Pelvic kidney |
OMIM:613001 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Cataract, Dilatation of the renal pelvis, Horseshoe kidney, Hepatosplenomegaly, Vesicoureteral re... |
OMIM:274000 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Sclerocornea, Hypospadias, Hypoplasia of penis, Iris coloboma |
ORPHA:77298 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Cataract, Opacification of the corneal stroma, Hypoplasia of the thymus, Hepatomeg... |
OMIM:214110 |
| 3Mc Syndrome 3 |
|
Horseshoe kidney, Penoscrotal hypospadias, Micropenis, Corneal opacity |
OMIM:248340 |
| Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Enlarged kidney, Microphallus, Hyperechogenic kidneys |
OMIM:612651 |
| Gm1 Gangliosidosis |
|
Hepatosplenomegaly, Splenomegaly, Corneal opacity |
ORPHA:354 |
| Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Ectopia lentis, Hypoplasia of the iris, Horseshoe kidney, Renal hyp... |
ORPHA:2092 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease, Corneal crystals |
OMIM:219900 |
| Oculocerebrocutaneous Syndrome |
|
Iris coloboma, Corneal opacity |
ORPHA:1647 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Acute kidney injury, Oliguria, Recurrent urinary tract infections, Hepatosplenomegaly, Reduced re... |
ORPHA:731 |
| Sanjad-Sakati Syndrome |
|
Hypoplasia of penis, Astigmatism, Corneal opacity |
ORPHA:2323 |
| Mucopolysaccharidosis, Type Vii |
|
Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Splenomegaly, Dermatan s... |
OMIM:253220 |
| Lathosterolosis |
|
Cataract, Microcornea, Horseshoe kidney, Abnormal platelet morphology, Thrombocytopenia, Anisopoi... |
ORPHA:46059 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Conjunctival hyperemia, Cataract, Corneal opacity |
ORPHA:2399 |
| Fryns Syndrome |
|
Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Corneal opacity, Hypospadias |
ORPHA:2059 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Opacification of the corneal stroma, Hypospadias, Anterior chamber synechiae |
OMIM:601499 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Unilateral renal agenesis, Hypospadias, Astigmatism, Hydronephrosis, Renal cyst, Corneal opacity,... |
ORPHA:464311 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Increased circulating ACTH level, Abnormal fear-induced behavior, Pituitary adenoma, Emotional la... |
OMIM:219090 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Microcornea, Ectopia pupillae, Sclerocornea, Hypospadias |
OMIM:615877 |
| Apparent Mineralocorticoid Excess |
|
Decreased circulating aldosterone level, Polydipsia, Abnormality of circulating cortisol level, D... |
ORPHA:320 |
| Alg9-Cdg |
|
Hypoplasia of the bladder, Abnormal renal artery morphology, Hydronephrosis, Hepatomegaly, Ureter... |
ORPHA:79328 |
| Tangier Disease |
|
Hepatosplenomegaly, Left ventricular hypertrophy, Thrombocytopenia, Corneal opacity, Anemia |
ORPHA:31150 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Cataract, Enlarged kidney |
OMIM:261740 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
| Incontinentia Pigmenti |
|
Cataract, Eosinophilia, Keratitis, Corneal opacity |
ORPHA:464 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Lentiglobus, Cataract, Nephrocalcinosis, Proximal renal tubular acidosis, Aminoaciduria, Oligosac... |
ORPHA:534 |
| Scheie Syndrome |
|
Corneal opacity |
OMIM:607016 |
| Gaucher Disease, Type Iiic |
|
Pancytopenia, Splenomegaly, Cardiomegaly, Hepatomegaly, Opacification of the corneal stroma |
OMIM:231005 |
| Beckwith-Wiedemann Syndrome |
|
Nephropathy, Visceromegaly, Polycythemia, Vesicoureteral reflux, Splenomegaly, Nephroblastoma, Ne... |
ORPHA:116 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Peters anomaly, Megalocornea, Corneal opacity, Buphthalmos, Renal dysplasia |
OMIM:236670 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Unilateral renal agenesis, Hypospadias, Astigmatism, Hydronephrosis, Renal cyst, Corneal opacity,... |
ORPHA:464306 |
| Mosaic Trisomy 8 |
|
Hydronephrosis, Vesicoureteral reflux, Corneal opacity |
ORPHA:96061 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Peters anomaly, Axenfeld anomaly, Posterior embryotoxon, Ocular anterior segment dysgenesis, Opac... |
OMIM:612582 |
| Mucopolysaccharidosis Type 4 |
|
Mucopolysacchariduria, Corneal opacity |
ORPHA:582 |
| Mucopolysaccharidosis Type 3 |
|
Cataract, Heparan sulfate excretion in urine, Urinary glycosaminoglycan excretion, Splenomegaly, ... |
ORPHA:581 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Enlarged kidney, Nephroblastoma |
ORPHA:276280 |
| 3Q29 Microduplication Syndrome |
|
Sclerocornea, Cataract, Aniridia, Iris coloboma |
ORPHA:251038 |
| Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia |
ORPHA:1302 |
| Mucopolysaccharidosis Type 1 |
|
Mucopolysacchariduria, Splenomegaly, Corneal opacity |
ORPHA:579 |
| Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Mucopolysacchariduria, Opacification of the corneal stroma |
OMIM:184095 |
| Alpha-Mannosidosis, Infantile Form |
|
Cataract, Oligosacchariduria, Recurrent urinary tract infections, Hepatosplenomegaly, Pancytopeni... |
ORPHA:309282 |
| Ogden Syndrome |
|
Polycythemia, Cardiomegaly, Global glomerulosclerosis, Iron deficiency anemia, Thrombocytopenia, ... |
OMIM:300855 |
| Leprechaunism |
|
Nephrocalcinosis, Long penis, Failure to thrive, Decreased body weight, Hypercalciuria, Enlarged ... |
ORPHA:508 |
| Histiocytoid Cardiomyopathy |
|
Megalocornea, Cardiomegaly, Renal cyst, Corneal opacity, Congenital aphakia, Hepatomegaly |
ORPHA:137675 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Cataract, Multicystic kidney dysplasia, Nephroblastoma, Corneal opacity, Acute lymphoblastic leuk... |
ORPHA:1052 |
| Hurler Syndrome |
|
Hepatomegaly, Mucopolysacchariduria, Splenomegaly, Corneal opacity |
ORPHA:93473 |
| Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia |
OMIM:614204 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, Failure to thrive, Recurrent urinary tract infections, Obesity, Truncal obesit... |
OMIM:615873 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Renal agenesis, Polysplenia, Horseshoe kidney, Cardiomegaly, Hepatomegaly, Asplenia, Enlarged kidney |
OMIM:306955 |
| Immunodeficiency 113 With Autoimmunity And Autoinflammation |
|
Minimal change glomerulonephritis, Leukocytosis, Splenomegaly, Autoimmune hemolytic anemia, Monoc... |
OMIM:620565 |
| Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
| Carpenter Syndrome 1 |
|
Microcornea, Hydroureter, Polysplenia, Hydronephrosis, Opacification of the corneal stroma |
OMIM:201000 |
| Pelvis-Shoulder Dysplasia |
|
Opacification of the corneal stroma, Iris coloboma |
OMIM:169550 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Lens subluxation, Corneal opacity, Ectopia pupillae |
ORPHA:85167 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Astigmatism |
ORPHA:2095 |
| Mucopolysaccharidosis Type 6 |
|
Mucopolysacchariduria, Opacification of the corneal stroma, Splenomegaly |
ORPHA:583 |
| Chime Syndrome |
|
Hydronephrosis, Acute leukemia, Abnormality of the kidney, Corneal opacity |
ORPHA:3474 |
| Congenital Disorder Of Deglycosylation 1 |
|
Chondroitin sulfate excretion in urine, Keratan sulfate excretion in urine, Heparan sulfate excre... |
OMIM:615273 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
| Kindler Epidermolysis Bullosa |
|
Neoplasm of the urethra, Phimosis, Urethral stricture, Corneal opacity, Anemia, Conjunctivitis |
ORPHA:2908 |
| Gomez-Lopez-Hernandez Syndrome |
|
Opacification of the corneal stroma |
OMIM:601853 |
| Wilson Disease |
|
Aminoaciduria, Sunflower cataract, Glycosuria, Kayser-Fleischer ring, Hyperphosphaturia, Splenome... |
OMIM:277900 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Lens subluxation, Corneal opacity, Ectopia pupillae |
OMIM:608940 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Splenomegaly, Abscess, Neutrophilia |
OMIM:612852 |
| Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Corneal opacity |
OMIM:601812 |
| Mucopolysaccharidosis, Type Vi |
|
Hepatomegaly, Splenomegaly, Dermatan sulfate excretion in urine, Corneal opacity |
OMIM:253200 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity |
OMIM:259600 |
| Meckel Syndrome |
|
Accessory spleen, Cataract, Microcornea, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the ... |
ORPHA:564 |
| De Barsy Syndrome |
|
Cataract, Corneal opacity |
ORPHA:2962 |
| Tbck-Related Intellectual Disability Syndrome |
|
Neurogenic bladder, Corneal opacity |
ORPHA:488632 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased proportion of CD4-positive T cells, Leukocytosis, Neutrophilia |
OMIM:617099 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Sclerocornea, Cataract, Micropenis |
OMIM:614230 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Hypospadias, Peters anomaly, Chordee, Micropenis, Sclerocornea, Iris coloboma |
OMIM:309801 |
| Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Cataract, Opacification of the corneal stroma, Hydronephrosis, Hepatomegaly, Album... |
OMIM:214100 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Microcornea, Hypoplasia of the iris, Ectopia pupillae, Astigmatism, Corneal neovascularization, P... |
OMIM:175780 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Renal cyst, Keratoconjunctivitis sicca, Corneal opacity, Buphthalmos, Hypospadias, Corneal dystrophy |
ORPHA:495875 |
| Adult-Onset Still Disease |
|
Leukocytosis, Splenomegaly, Proteinuria, Anemia, Neutrophilia, Hepatomegaly |
ORPHA:829 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Cataract, Hepatosplenomegaly, Opacification of the corneal stroma, Splenomegaly, Renal cyst, Hepa... |
OMIM:614866 |
| Familial Mediterranean Fever |
|
Renal amyloidosis, Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Neutrophilia, Hepa... |
OMIM:249100 |
| Gaucher Disease |
|
Splenic infarction, Pancytopenia, Leukopenia, Splenomegaly, Hematuria, Proteinuria, Anemia, Splen... |
ORPHA:355 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Anemia, Corneal opacity |
ORPHA:79396 |
| Williams Syndrome |
|
Megalocornea, Posterior embryotoxon, Flat cornea, Cataract, Renal insufficiency, Renal duplicatio... |
ORPHA:904 |
| Galloway-Mowat Syndrome 1 |
|
Focal segmental glomerulosclerosis, Cataract, Hypoplasia of the iris, Renal insufficiency, Protei... |
OMIM:251300 |
| Mucolipidosis Iii Alpha/Beta |
|
Hepatomegaly, Mucopolysacchariduria, Opacification of the corneal stroma, Hyperopic astigmatism |
OMIM:252600 |
| Mucolipidosis Iii Gamma |
|
Mucopolysacchariduria, Opacification of the corneal stroma |
OMIM:252605 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Posterior subcapsular cataract, Iris coloboma, Corneal opacity, Megalocornea |
ORPHA:536471 |
| Proboscis Lateralis |
|
Cataract, Microcornea, Unilateral renal agenesis, Duplication of renal pelvis, Ureteral agenesis,... |
ORPHA:141099 |
| Peters Plus Syndrome |
|
Cataract, Microcornea, Multicystic kidney dysplasia, Peters anomaly, Hypospadias, Renal duplicati... |
ORPHA:709 |
| Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
| Mucopolysaccharidosis, Type Iva |
|
Hepatomegaly, Opacification of the corneal stroma, Chondroitin sulfate excretion in urine, Kerata... |
OMIM:253000 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Corneal opacity |
OMIM:620519 |
| Mosaic Trisomy 1 |
|
Renal cortical cysts, Penile hypospadias, Renal cyst, Micropenis, Opacification of the corneal st... |
ORPHA:1692 |
| Proteus Syndrome |
|
Cataract, Long penis, Thymus hyperplasia, Central heterochromia, Splenomegaly, Enlarged polycysti... |
ORPHA:744 |
| Apolipoprotein A-I Deficiency |
|
Opacification of the corneal stroma |
ORPHA:425 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Posterior embryotoxon, Corneal opacity, Sclerocornea, Hypospadias, Epi... |
ORPHA:2556 |
| Cardiac-Urogenital Syndrome |
|
Accessory spleen, Penoscrotal hypospadias, Micropenis, Patent urachus, Enlarged kidney |
OMIM:618280 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity |
ORPHA:364577 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Corn... |
ORPHA:2072 |
| Hyper-Igd Syndrome |
|
Hepatosplenomegaly, Leukocytosis, Splenomegaly, Elevated urine mevalonic acid level, Renal angiom... |
OMIM:260920 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Keratitis, Hydroureter, Astigmatism, Hydronephrosis, Abnormality of the upper urinary tract, Abno... |
ORPHA:2273 |
| Neurofibromatosis Type 1 |
|
Cataract, Chronic myelogenous leukemia, Heterochromia iridis, Lisch nodules, Abnormality of the u... |
ORPHA:636 |
| Smith-Lemli-Opitz Syndrome |
|
Cataract, Multicystic kidney dysplasia, Hypospadias, Abnormal localization of kidney, Ureteropelv... |
ORPHA:818 |
| Moebius Syndrome |
|
Corneal opacity |
ORPHA:570 |
| Ablepharon Macrostomia Syndrome |
|
Hypoplasia of penis, Corneal erosion, Corneal opacity |
ORPHA:920 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Duplication of renal pelvis, Polysplenia, Splenomegaly, Nephroblastoma, Hydronephrosis, Renal cys... |
OMIM:312870 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Heparan sulfate excretion in urine, Hepatosplenomegaly, Splenomegaly, Dermatan sulfate excretion ... |
ORPHA:217085 |
| Autosomal Dominant Cutis Laxa |
|
Unilateral renal agenesis, Pyelonephritis, Bladder diverticulum, Developmental cataract, Corneal ... |
ORPHA:90348 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Heparan sulfate excretion in urine, Hepatosplenomegaly, Splenomegaly, Dermatan sulfate excretion ... |
ORPHA:217093 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
| Encephalocraniocutaneous Lipomatosis |
|
Iris coloboma, Corneal opacity |
ORPHA:2396 |
| Oculoectodermal Syndrome |
|
Microcornea, Astigmatism, Opacification of the corneal stroma, Limbal dermoid, Bladder exstrophy |
OMIM:600268 |
| Microphthalmia, Syndromic 3 |
|
Sclerocornea, Cataract, Hypospadias, Micropenis |
OMIM:206900 |
| Fraser Syndrome 1 |
|
Renal hypoplasia, Renal hypoplasia/aplasia, Corneal opacity, Micropenis, Hypospadias |
OMIM:219000 |
| Mucopolysaccharidosis Type 2 |
|
Hepatomegaly, Splenomegaly, Corneal opacity |
ORPHA:580 |
| Norrie Disease |
|
Cataract, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphology, Aplasia/Hypoplasia o... |
ORPHA:649 |
| Osteogenesis Imperfecta |
|
Hypercalciuria, Nephrolithiasis, Thrombocytopenia, Corneal opacity |
ORPHA:666 |
| Fryns Syndrome |
|
Renal agenesis, Polysplenia, Hydronephrosis, Renal cyst, Stillbirth, Ureteral duplication, Opacif... |
OMIM:229850 |
| Wolf-Hirschhorn Syndrome |
|
Iris coloboma, Abnormality of the urinary system, Megalocornea, Abnormality of the kidney, Sclero... |
ORPHA:280 |
| Cockayne Syndrome B |
|
Microcornea, Hypoplasia of the iris, Renal insufficiency, Splenomegaly, Proteinuria, Hepatomegaly... |
OMIM:133540 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Sclerocornea |
OMIM:300952 |
| Limb Body Wall Complex |
|
Lens subluxation, Iris coloboma, Abnormality of the kidney, Corneal opacity |
ORPHA:2369 |
| Larsen Syndrome |
|
Corneal opacity |
OMIM:150250 |
| Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the urethra, Keratoconjunctivitis, Abnormal renal tubule morphology, Abnormal prep... |
ORPHA:2907 |
| Phace Syndrome |
|
Cataract, Heterochromia iridis, Sclerocornea, Lens coloboma, Iris coloboma |
ORPHA:42775 |
| Neurocardiofaciodigital Syndrome |
|
Sclerocornea, Cataract, Vesicoureteral reflux |
OMIM:619869 |
| Van Den Ende-Gupta Syndrome |
|
Sclerocornea, Dilatation of the renal pelvis |
OMIM:600920 |
| Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Cataract, Long penis, Stillbirth, Horseshoe kidney, Corneal opacity, Polycystic... |
OMIM:268300 |
| Digeorge Syndrome |
|
Unilateral renal agenesis, Renal insufficiency, Splenomegaly, Hydronephrosis, Hypoplasia of the t... |
OMIM:188400 |
| Bartsocas-Papas Syndrome 1 |
|
Axillary pterygium, Popliteal pterygium, Pterygium, Ectopic kidney, Micropenis, Opacification of ... |
OMIM:263650 |
| Wiedemann-Rautenstrauch Syndrome |
|
Cataract, Recurrent urinary tract infections, Wide penis, Vesicoureteral reflux, Hydronephrosis, ... |
ORPHA:3455 |
| Cockayne Syndrome A |
|
Cataract, Renal insufficiency, Splenomegaly, Proteinuria, Hepatomegaly, Micropenis, Opacification... |
OMIM:216400 |
| Xeroderma Pigmentosum |
|
Aminoaciduria, Cataract, Keratitis, Pterygium, Conjunctival telangiectasia, Opacification of the ... |
ORPHA:910 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly, Opacification of the corneal stroma |
ORPHA:79280 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Corneal opacity |
OMIM:608670 |
| Stuve-Wiedemann Syndrome 1 |
|
Opacification of the corneal stroma |
OMIM:601559 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... |
ORPHA:353281 |
| Yunis-Varon Syndrome |
|
Cataract, Renal artery stenosis, Cardiomegaly, Micropenis, Sclerocornea, Renovascular hypertensio... |
ORPHA:3472 |
| Hutchinson-Gilford Progeria Syndrome |
|
Corneal ulceration, Corneal opacity |
ORPHA:740 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Unilateral renal agenesis, Multicystic kidney dysplasia, Keratitis, Renal agenesis, Corneal neova... |
OMIM:308205 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydronephrosis, Multicystic kidney dysplasia, Opacification of the corneal stroma, Micropenis |
OMIM:615287 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Self-injurious behavior, Abnormal fear-induced behavior, Emotional lability, Aggressive behavior,... |
ORPHA:353277 |
| Microphthalmia, Syndromic 6 |
|
Sclerocornea, Renal hypoplasia, Microcornea |
OMIM:607932 |
| African Trypanosomiasis |
|
Abnormality of circulating cortisol level, Irritability, Aggressive behavior, Abnormality of reni... |
ORPHA:3385 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Opacification of the corneal stroma, Buphthalmos, Megalocornea |
OMIM:253280 |
| Yunis-Varon Syndrome |
|
Sclerocornea, Cataract, Micropenis, Hypospadias |
OMIM:216340 |
