| Major Affective Disorder 1 |
|
Mania, Depression |
OMIM:125480 |
| Major Depressive Disorder |
|
Depression |
OMIM:608516 |
| Severe Primary Trimethylaminuria |
|
Aggressive behavior, Negative affectivity, Depression, Emotional lability, Obsessive-compulsive t... |
ORPHA:468726 |
| Obsessive-Compulsive Disorder |
|
Collectionism, Compulsive behaviors, Skin-picking, Depression |
OMIM:164230 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co... |
OMIM:617610 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Congenital Megacalycosis |
|
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... |
ORPHA:93109 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
| Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
| Bilateral Striopallidodentate Calcinosis |
|
Hepatomegaly, Corneal opacity, Thrombocytopenia |
ORPHA:1980 |
| Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death, Eosinophilia, Neutropenia |
OMIM:257100 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Hepatomegaly, Corneal opacity |
ORPHA:2432 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
| Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
| Immunodeficiency, Common Variable, 6 |
|
Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me... |
OMIM:613496 |
| Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
| Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
| Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Recurrent urinary tract infections, N... |
OMIM:617585 |
| Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
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 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
| Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions |
OMIM:217800 |
| Nephronophthisis 16 |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Nephronophthisi... |
OMIM:615382 |
| Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
| Neutropenia, Severe Congenital, 7, Autosomal Recessive |
|
Neutropenia |
OMIM:617014 |
| Immunodeficiency 50 |
|
Recurrent urinary tract infections, Lymphopenia, Neutropenia |
OMIM:300988 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib... |
OMIM:619902 |
| Ring Dermoid Of Cornea |
|
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... |
OMIM:180550 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:608470 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
| X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
| Vesicoureteral Reflux 2 |
|
Vesicoureteral reflux, Renal hypoplasia |
OMIM:610878 |
| Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas... |
OMIM:610600 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Hematuria, Posterior embryotoxon, Iris coloboma |
ORPHA:1473 |
| Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
| Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
| Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Stage 5 chronic kidney disease, Chronic tubulo... |
OMIM:602088 |
| Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Lcat Deficiency |
|
Hemolytic anemia, Renal insufficiency, Corneal opacity, Proteinuria, Stage 5 chronic kidney disea... |
ORPHA:650 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
| Trimethylaminuria |
|
Trimethylaminuria, Splenomegaly, Anemia, Neutropenia |
OMIM:602079 |
| Aa Amyloidosis |
|
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... |
ORPHA:85445 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
| Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... |
OMIM:610489 |
| Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... |
OMIM:610475 |
| Late-Onset Familial Hypoaldosteronism |
|
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... |
ORPHA:556037 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
| Lecithin:Cholesterol Acyltransferase Deficiency |
|
Hemolytic anemia, Renal insufficiency, Proteinuria, Corneal arcus, Normochromic anemia |
OMIM:245900 |
| Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Renal insufficiency, Corneal opacity, Unilateral renal agenesis, Acute leukemia |
ORPHA:281090 |
| Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
| Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney, Large for gestational age |
OMIM:618272 |
| Early-Onset Familial Hypoaldosteronism |
|
Elevated serum 11-deoxycortisol, Decreased circulating aldosterone level, Increased circulating r... |
ORPHA:556030 |
| Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Micropenis, Corneal opacity, Hypospadias, Developmental cataract |
OMIM:618815 |
| Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
| Adrenocortical Carcinoma |
|
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... |
ORPHA:1501 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... |
ORPHA:3077 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hepatomegaly, Renal insufficiency, Absence of renal corticomedullary differentiation, Splenomegal... |
OMIM:263200 |
| Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
| Fish-Eye Disease |
|
Splenomegaly, Corneal opacity, Hepatomegaly |
ORPHA:79292 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Uveal ectropion, Abnormal Descemet membrane morphol... |
ORPHA:98973 |
| Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
| Congenital Rubella Syndrome |
|
Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Aplasia/Hypoplasia of the iris, Anemia, Th... |
ORPHA:290 |
| Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
| Sialidosis Type 2 |
|
Splenomegaly, Nephropathy, Corneal opacity, Hepatomegaly |
ORPHA:87876 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
| Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged polycystic ovaries, Enlarged kidney |
ORPHA:90301 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
| Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased serum testosterone concentration, Decreased circulating cortisol level, Precocious pube... |
ORPHA:90793 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Corneal opacity, Proteinuria, Stage 5 chronic kidney disease, Bilateral rena... |
OMIM:166300 |
| Congenital Anomalies Of Kidney And Urinary Tract 1 |
|
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... |
OMIM:610805 |
| X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Proteinuria, Abnormal T cell morphology, Nephrotic syndrome, Mucopolysacchariduria, Opacification... |
OMIM:215250 |
| Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Hepatomegaly, Anemia of inadequate produ... |
ORPHA:75564 |
| Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Urachal cy... |
OMIM:608203 |
| Hurler-Scheie Syndrome |
|
Splenomegaly, Corneal opacity, Hepatomegaly |
ORPHA:93476 |
| Mucolipidosis Iv |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
| Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
| Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Proteinuria, Splenomegaly, Anemia, Leukopenia, Nephrotic syndrome, Focal segmental ... |
OMIM:617303 |
| Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea |
ORPHA:83461 |
| Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
| Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Neutropenia, Nephropathy,... |
OMIM:617056 |
| Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... |
OMIM:613270 |
| Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Asplenia, Stillbirth, Cystic renal dysplasia, Enlarged kidney |
OMIM:615415 |
| Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
| Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
| Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity |
ORPHA:317 |
| Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocyt... |
OMIM:226990 |
| Alpha-Mannosidosis |
|
Splenomegaly, Cataract, Corneal opacity, Hepatomegaly |
ORPHA:61 |
| Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
| Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Cataract, Corneal opacity, Myopic astigmatism, Microcornea, Astigmatism |
OMIM:152950 |
| Schimke Immuno-Osseous Dysplasia |
|
Corneal opacity, Proteinuria, Microscopic hematuria, Minimal change glomerulonephritis, Thrombocy... |
ORPHA:1830 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity, Unilateral renal agenesis |
ORPHA:1064 |
| Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
| Glycogen Storage Disease Ib |
|
Hepatomegaly, Proteinuria, Splenomegaly, Nephrolithiasis, Focal segmental glomerulosclerosis, Neu... |
OMIM:232220 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Left ventricular hypertrophy, Cataract, Corneal opacity |
OMIM:613153 |
| Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
| Sialidosis Type 1 |
|
Cataract, Corneal opacity, Urinary excretion of sialylated oligosaccharides, Splenomegaly, Increa... |
ORPHA:812 |
| Harel-Yoon Syndrome |
|
Corneal opacity, Developmental cataract |
OMIM:617183 |
| Alpha-Mannosidosis, Adult Form |
|
Pancytopenia, Cataract, Corneal opacity, Oligosacchariduria, Hepatosplenomegaly |
ORPHA:309288 |
| Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
| Atopic Keratoconjunctivitis |
|
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization |
ORPHA:163934 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Nephropathy, Corneal opacity, Proteinuria |
ORPHA:1765 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Duplicated collecting system, Hepatomegaly, Corneal opacity, Hypospadias, Leukopenia, Astigmatism... |
OMIM:301056 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
| Brachyolmia Type 1, Toledo Type |
|
Increased urinary disaccharide excretion, Opacification of the corneal stroma |
OMIM:271630 |
| Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Hepatomegaly, Ureteral duplication, Cataract, Renal insufficiency, Long-chain di... |
OMIM:608836 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Urethral atresia, Hydronephrosis, Enlarged kidney |
OMIM:314390 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... |
ORPHA:98957 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Hepatomegaly, Renal insufficiency, Asplenia, Splenomegaly, Ureteral atresia, Stage 5 chronic kidn... |
OMIM:208540 |
| Bartsocas-Papas Syndrome 2 |
|
Popliteal pterygium, Axillary pterygium, Corneal opacity, Antecubital pterygium |
OMIM:619339 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Macroscopic hematuria, Episodic hemolytic ... |
ORPHA:251004 |
| Juvenile Sialidosis Type 2 |
|
Hepatomegaly, Cataract, Corneal opacity, Abnormality of the kidney, Hepatosplenomegaly, Viscerome... |
ORPHA:93399 |
| H Syndrome |
|
Abnormality of the kidney, Microcytic anemia, Hepatosplenomegaly, Corneal arcus, Micropenis, Enla... |
ORPHA:168569 |
| Stromme Syndrome |
|
Accessory spleen, Cataract, Sclerocornea, Bilateral renal hypoplasia, Microcornea, Hydronephrosis... |
OMIM:243605 |
| Scheie Syndrome |
|
Splenomegaly, Mucopolysacchariduria, Corneal opacity, Hepatomegaly |
ORPHA:93474 |
| Diaphanospondylodysostosis |
|
Nephrogenic rest, Nephroblastomatosis, Horseshoe kidney, Cystic renal dysplasia, Enlarged kidney |
OMIM:608022 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Cataract, Chronic neutrop... |
ORPHA:500095 |
| Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... |
OMIM:194080 |
| Cystinosis |
|
Renal insufficiency, Corneal opacity, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Neph... |
ORPHA:213 |
| Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Renal insufficiency, Neutrophilia, Membranoproliferative glomerulonephritis, Hemoly... |
OMIM:619644 |
| Scheie Syndrome |
|
Corneal opacity |
OMIM:607016 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
3-Methylglutaconic aciduria, Cataract, Corneal opacity |
ORPHA:496790 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Zellweger Syndrome |
|
Hepatomegaly, Multicystic kidney dysplasia, Cataract, Corneal opacity, Hypospadias, Brushfield sp... |
ORPHA:912 |
| Sjogren-Larsson Syndrome |
|
Astigmatism, Opacification of the corneal epithelium |
OMIM:270200 |
| Short Syndrome |
|
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... |
ORPHA:3163 |
| Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
| Mietens Syndrome |
|
Microcornea, Cataract, Corneal opacity, Sclerocornea |
ORPHA:2557 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloprolife... |
ORPHA:3226 |
| Congenital Sialidosis Type 2 |
|
Hepatomegaly, Cataract, Corneal opacity, Abnormality of the kidney, Hepatosplenomegaly, Developme... |
ORPHA:93400 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Reduction of neutrophil motility |
OMIM:266265 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Keratitis, Conjunctivitis, Corneal opacity |
OMIM:602562 |
| Multiple Sulfatase Deficiency |
|
Hepatomegaly, Cataract, Corneal opacity, Splenomegaly, Mucopolysacchariduria |
ORPHA:585 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
| Schimke Immunoosseous Dysplasia |
|
Pancytopenia, Renal insufficiency, Proteinuria, Thrombocytopenia, Stage 5 chronic kidney disease,... |
OMIM:242900 |
| Al-Gazali Syndrome |
|
Corneal opacity, Hydronephrosis, Sclerocornea |
OMIM:609465 |
| Galactosialidosis |
|
Conjunctival telangiectasia, Visceromegaly, Opacification of the corneal stroma, Hepatosplenomegaly |
OMIM:256540 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity |
ORPHA:2788 |
| Hurler-Scheie Syndrome |
|
Hepatomegaly, Corneal opacity, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate... |
OMIM:607015 |
| Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
| Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Corneal opacity, Renal hypoplasia/aplasia |
ORPHA:1234 |
| Kaposiform Lymphangiomatosis |
|
Splenomegaly, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Multiple renal cysts, Enlar... |
ORPHA:464329 |
| Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
| Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
| Glycogen Storage Disease Ia |
|
Hepatomegaly, Proteinuria, Nephrolithiasis, Focal segmental glomerulosclerosis, Enlarged kidney, ... |
OMIM:232200 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Proteinuria, Heparan sulfate excretion in urine, Hepatosplenomegaly, Anemia, Leukopenia, Nephroti... |
ORPHA:505248 |
| Coloboma, Ocular, Autosomal Dominant |
|
Vesicoureteral reflux, Corneal opacity, Peters anomaly |
OMIM:120200 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph... |
ORPHA:95699 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Microcornea, Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea |
OMIM:615145 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Absence of second... |
ORPHA:90796 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity |
ORPHA:1867 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca |
ORPHA:1806 |
| Relapsing Fever |
|
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Hematuria, Abnormality of the urinary system, Acu... |
ORPHA:91547 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Cataract, Corneal opacity, Ureteral stenosis, Ocular albinism, Abnormality of the urinary system,... |
ORPHA:2719 |
| Lymphoid Interstitial Pneumonia |
|
Hepatomegaly, Failure to thrive, Enlarged kidney, Weight loss |
ORPHA:79128 |
| Tyrosinemia, Type I |
|
Hepatomegaly, Renal insufficiency, Splenomegaly, Nephrocalcinosis, Renal Fanconi syndrome, Glomer... |
OMIM:276700 |
| Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Eosinophilia, Renal interstitial immunoglobulin deposits, Urina... |
ORPHA:449395 |
| Familial Dysautonomia |
|
Glomerulopathy, Renal insufficiency, Corneal opacity, Abnormality of the kidney, Abnormal pupil m... |
ORPHA:1764 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Unilateral renal agenesis, Developmental cataract |
OMIM:616603 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
| Wagro Syndrome |
|
Cataract, Corneal opacity, Proteinuria, Aniridia, Nephroblastoma |
OMIM:612469 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Proteinuria, Chronic neutropenia, Stage 5 chronic kidney disease, Nephrolithiasis, ... |
ORPHA:79259 |
| Lowry-Maclean Syndrome |
|
Developmental glaucoma, Megalocornea, Corneal opacity, Hypospadias |
ORPHA:2409 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormality of the kidney, Anemia |
ORPHA:54251 |
| Wilson Disease |
|
Hepatomegaly, Splenomegaly, Anemia, Kayser-Fleischer ring, Thrombocytopenia |
ORPHA:905 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatomegaly, Enlarged kidney, Cystic renal dysplasia, Polysplenia |
OMIM:200995 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
| Olmsted Syndrome 1 |
|
Corneal opacity, Opacification of the corneal stroma |
OMIM:614594 |
| Walker-Warburg Syndrome |
|
Hypoplasia of penis, Cataract, Corneal opacity, Microcornea, Iris coloboma |
ORPHA:899 |
| 8Q21.11 Microdeletion Syndrome |
|
Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea, Iris hypopigmentation |
ORPHA:284160 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Abnormal cornea morphology, Corneal opacity |
ORPHA:357058 |
| Multiple Sulfatase Deficiency |
|
Splenomegaly, Mucopolysacchariduria, Corneal opacity, Hepatomegaly |
OMIM:272200 |
| Porphyria Due To Ala Dehydratase Deficiency |
|
Abnormal fear-induced behavior, Agitation, Restlessness, Depression |
ORPHA:100924 |
| Rodrigues Blindness |
|
Microcornea, Sclerocornea |
OMIM:268320 |
| Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microcornea, Cataract, Iris coloboma, Sclerocornea |
ORPHA:139471 |
| Oculomaxillofacial Dysostosis |
|
Corneal opacity |
ORPHA:1794 |
| Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
| Acute Generalized Exanthematous Pustulosis |
|
Renal insufficiency, Neutrophilia, Eosinophilia, Leukocytosis, Conjunctivitis, Neutropenia |
ORPHA:293173 |
| Fucosidosis |
|
Hepatomegaly, Mucopolysacchariduria, Corneal opacity, Cardiomegaly |
ORPHA:349 |
| Apparent Mineralocorticoid Excess |
|
Polydipsia, Decreased circulating aldosterone level, Abnormality of circulating cortisol level, D... |
ORPHA:320 |
| Farber Disease |
|
Corneal opacity, Thrombocytopenia, Hepatosplenomegaly, Abnormal conjunctiva morphology, Opacifica... |
ORPHA:333 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Corneal opacity, Asplenia, Horseshoe kidney, Hydronephrosis, Multiple renal ... |
ORPHA:99776 |
| Distal Deletion 6P |
|
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... |
ORPHA:96125 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hyperphosphaturia, Corneal opacity, Horseshoe kidney |
OMIM:163200 |
| Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Mucopolysacchariduria, Opacification of the corneal str... |
OMIM:252500 |
| Hurler Syndrome |
|
Hepatomegaly, Corneal opacity, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate... |
OMIM:607014 |
| Tangier Disease |
|
Left ventricular hypertrophy, Splenomegaly, Opacification of the corneal stroma, Hepatomegaly |
OMIM:205400 |
| Gm2 Gangliosidosis, Ab Variant |
|
Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
| Pseudo-Torch Syndrome 1 |
|
Hepatomegaly, Renal insufficiency, Cataract, Splenomegaly, Opacification of the corneal stroma, T... |
OMIM:251290 |
| Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Eosinophilia, Keratoconjunctivitis, Hematuria, Opacification of the corneal stroma, Cor... |
OMIM:158310 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Nephrolithiasis, Renal cortical cysts, Nephro... |
OMIM:130650 |
| Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Opacification of the corneal stroma |
OMIM:164900 |
| Mucopolysaccharidosis Type 7 |
|
Splenomegaly, Mucopolysacchariduria, Corneal opacity |
ORPHA:584 |
| Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Unilateral renal agenesis, Splenic cyst |
OMIM:618188 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Micropenis, Renal dysplasia, Polycystic kidney dysplasia |
OMIM:613091 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
| Meacham Syndrome |
|
Accessory spleen, Horseshoe kidney, Stillbirth, Neonatal death, Enlarged kidney |
OMIM:608978 |
| Mucopolysaccharidosis, Type Ivb |
|
Hepatomegaly, Corneal opacity, Opacification of the corneal stroma, Chondroitin sulfate excretion... |
OMIM:253010 |
| Mucolipidosis Type Iv |
|
Corneal opacity |
ORPHA:578 |
| Fabry Disease |
|
Conjunctival telangiectasia, Glomerulopathy, Renal insufficiency, Cataract, Corneal opacity, Corn... |
ORPHA:324 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Keratitis, Corneal scarring, Recurrent corneal erosions, Opacification of the corneal stroma, Cor... |
OMIM:256800 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Renal malrotation, Cataract, Corneal opacity, Eosinophilia, Thrombocytopeni... |
OMIM:274000 |
| Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... |
OMIM:612109 |
| 3Mc Syndrome 3 |
|
Micropenis, Corneal opacity, Penoscrotal hypospadias, Horseshoe kidney |
OMIM:248340 |
| Endocrine-Cerebroosteodysplasia |
|
Hyperechogenic kidneys, Hypospadias, Microphallus, Enlarged kidney |
OMIM:612651 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypoplasia of penis, Hypospadias, Iris coloboma, Sclerocornea |
ORPHA:77298 |
| Encephalocraniocutaneous Lipomatosis |
|
Sclerocornea, Hypoplasia of the iris, Limbal dermoid, Pelvic kidney, Hydronephrosis |
OMIM:613001 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Hepatomegaly, Cataract, Brushfield spots, Aminoaciduria, Hypoplasia of the thymus, Opacification ... |
OMIM:214110 |
| Gm1 Gangliosidosis |
|
Splenomegaly, Corneal opacity, Hepatosplenomegaly |
ORPHA:354 |
| Oculocerebrocutaneous Syndrome |
|
Corneal opacity, Iris coloboma |
ORPHA:1647 |
| Sanjad-Sakati Syndrome |
|
Hypoplasia of penis, Astigmatism, Corneal opacity |
ORPHA:2323 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease, Corneal crystals |
OMIM:219900 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Hypersplenism, Splenomegaly, Oliguria, S... |
ORPHA:731 |
| Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Corneal opacity, Ectopia lentis, Renal hypoplasia/aplasia, Horsesho... |
ORPHA:2092 |
| Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Conjunctival hyperemia, Cataract, Corneal opacity |
ORPHA:2399 |
| Mucopolysaccharidosis, Type Vii |
|
Hepatomegaly, Corneal opacity, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate... |
OMIM:253220 |
| Lathosterolosis |
|
Hepatomegaly, Hypoplasia of penis, Cataract, Anisopoikilocytosis, Abnormal platelet morphology, H... |
ORPHA:46059 |
| Fryns Syndrome |
|
Multicystic kidney dysplasia, Corneal opacity, Hypospadias, Vesicoureteral reflux, Hydronephrosis |
ORPHA:2059 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Opacification of the corneal stroma, Hypospadias, Anterior chamber synechiae |
OMIM:601499 |
| Tangier Disease |
|
Corneal opacity, Hepatosplenomegaly, Anemia, Left ventricular hypertrophy, Thrombocytopenia |
ORPHA:31150 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Corneal opacity, Hypospadias, Unilateral renal agenesis, Renal cyst, Astigmatism, Micropenis, Pel... |
ORPHA:464311 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Hypospadias, Sclerocornea, Microcornea, Ectopia pupillae |
OMIM:615877 |
| Alg9-Cdg |
|
Hypoplasia of the bladder, Hepatomegaly, Ureteral hypoplasia, Abnormal renal artery morphology, H... |
ORPHA:79328 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Hepatomegaly, Cardiomegaly, Splenomegaly, Nephrolithiasis, Hypercalciuria, ... |
ORPHA:116 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Glomerulopathy, Renal insufficiency, Cataract, Corneal opacity, Proteinuria, Hypercalciuria, Abno... |
ORPHA:534 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Pancytopenia, Cardiomegaly, Splenomegaly, Opacification of the corneal stroma |
OMIM:231005 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Buphthalmos, Peters anomaly, Megalocornea, Renal dysplasia |
OMIM:236670 |
| Mosaic Trisomy 8 |
|
Vesicoureteral reflux, Corneal opacity, Hydronephrosis |
ORPHA:96061 |
| Incontinentia Pigmenti |
|
Keratitis, Cataract, Corneal opacity, Eosinophilia |
ORPHA:464 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cataract, Enlarged kidney, Cardiomegaly |
OMIM:261740 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Corneal opacity, Hypospadias, Unilateral renal agenesis, Renal cyst, Astigmatism, Micropenis, Pel... |
ORPHA:464306 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Axenfeld anomaly, Opacification of the corneal stroma, Peters anomaly, Ocular anterior segment dy... |
OMIM:612582 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
| Mucolipidosis Iii Gamma |
|
Opacification of the corneal stroma |
OMIM:252605 |
| Adult-Onset Still Disease |
|
Splenomegaly, Leukocytosis, Neutrophilia, Hepatomegaly |
ORPHA:829 |
| 3Q29 Microduplication Syndrome |
|
Aniridia, Cataract, Iris coloboma, Sclerocornea |
ORPHA:251038 |
| Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
| Leprechaunism |
|
Hepatomegaly, Enlarged ovaries, Long penis, Hypercalciuria, Nephrocalcinosis, Decreased body weig... |
ORPHA:508 |
| Mucopolysaccharidosis Type 4 |
|
Mucopolysacchariduria, Corneal opacity |
ORPHA:582 |
| Ogden Syndrome |
|
Global glomerulosclerosis, Cardiomegaly, Thrombocytopenia, Iron deficiency anemia, Polycystic kid... |
OMIM:300855 |
| Alpha-Mannosidosis, Infantile Form |
|
Pancytopenia, Cataract, Corneal opacity, Recurrent urinary tract infections, Hepatosplenomegaly, ... |
ORPHA:309282 |
| Wilson Disease |
|
Hemolytic anemia, Hepatomegaly, Hyperphosphaturia, Proteinuria, Splenomegaly, Nephrolithiasis, Hy... |
OMIM:277900 |
| Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cataract, Corneal opacity, Cardiomegaly, Heparan sulfate excretion in urine, Spleno... |
ORPHA:581 |
| Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia |
OMIM:614204 |
| Helsmoortel-Van Der Aa Syndrome |
|
Recurrent urinary tract infections, Obesity, Enuresis nocturna, Truncal obesity, Failure to thriv... |
OMIM:615873 |
| Hurler Syndrome |
|
Splenomegaly, Mucopolysacchariduria, Corneal opacity, Hepatomegaly |
ORPHA:93473 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Corneal opacity, Cardiomegaly, Renal cyst, Megalocornea, Congenital aphakia |
ORPHA:137675 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Multicystic kidney dysplasia, Cataract, Corneal opacity, Acute lymphoblastic leukemia, Nephroblas... |
ORPHA:1052 |
| Mucopolysaccharidosis Type 1 |
|
Splenomegaly, Mucopolysacchariduria, Corneal opacity |
ORPHA:579 |
| Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Hepatomegaly, Renal agenesis, Cardiomegaly, Asplenia, Horseshoe kidney, Polysplenia, Enlarged kidney |
OMIM:306955 |
| Carpenter Syndrome 1 |
|
Hydroureter, Microcornea, Polysplenia, Opacification of the corneal stroma, Hydronephrosis |
OMIM:201000 |
| Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Astigmatism, Sclerocornea |
ORPHA:2095 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ectopia pupillae, Corneal opacity, Lens subluxation |
ORPHA:85167 |
| Mucopolysaccharidosis Type 6 |
|
Splenomegaly, Mucopolysacchariduria, Opacification of the corneal stroma |
ORPHA:583 |
| Chime Syndrome |
|
Hydronephrosis, Corneal opacity, Abnormality of the kidney, Acute leukemia |
ORPHA:3474 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
| Gomez-Lopez-Hernandez Syndrome |
|
Opacification of the corneal stroma |
OMIM:601853 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Splenomegaly, Neutrophilia, Abscess, Hepatomegaly |
OMIM:612852 |
| Congenital Disorder Of Deglycosylation 1 |
|
Hepatomegaly, Corneal opacity, Heparan sulfate excretion in urine, 3-Methylglutaconic aciduria, C... |
OMIM:615273 |
| Kindler Epidermolysis Bullosa |
|
Urethral stricture, Corneal opacity, Phimosis, Neoplasm of the urethra, Conjunctivitis, Anemia |
ORPHA:2908 |
| Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Multicystic kidney dysplasia, Cataract, Sclerocornea, Asp... |
ORPHA:564 |
| Premature Aging Syndrome, Penttinen Type |
|
Corneal stromal edema, Corneal opacity |
OMIM:601812 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Corneal opacity |
OMIM:259600 |
| Tbck-Related Intellectual Disability Syndrome |
|
Neurogenic bladder, Corneal opacity |
ORPHA:488632 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Micropenis, Cataract, Sclerocornea |
OMIM:614230 |
| Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells |
OMIM:617099 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Hypospadias, Sclerocornea, Chordee, Peters anomaly, Micropenis, Iris coloboma |
OMIM:309801 |
| Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Hepatomegaly, Cataract, Hypospadias, Brushfield spots, Aminoaciduria, Albuminuria, Opacification ... |
OMIM:214100 |
| De Barsy Syndrome |
|
Cataract, Corneal opacity |
ORPHA:2962 |
| Mucopolysaccharidosis, Type Vi |
|
Splenomegaly, Corneal opacity, Dermatan sulfate excretion in urine, Hepatomegaly |
OMIM:253200 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hemolytic anemia, Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of ... |
OMIM:175780 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Corneal opacity, Corneal dystrophy, Hypospadias, Renal cyst, Buphthalmos, Keratoconjunctivitis sicca |
ORPHA:495875 |
| Familial Mediterranean Fever |
|
Hepatomegaly, Neutrophilia, Splenomegaly, Leukocytosis, Stage 5 chronic kidney disease, Nephrotic... |
OMIM:249100 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Hepatomegaly, Cataract, Hypospadias, Brushfield spots, Splenomegaly, Renal cyst, Hepatosplenomega... |
OMIM:614866 |
| Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... |
ORPHA:411634 |
| Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Cataract, Proteinuria, Hypoplasia of the iris, ... |
OMIM:251300 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity, Anemia |
ORPHA:79396 |
| Proboscis Lateralis |
|
Cataract, Corneal opacity, Unilateral renal agenesis, Microcornea, Ureteral agenesis, Duplication... |
ORPHA:141099 |
| Williams Syndrome |
|
Hypoplasia of penis, Cardiomegaly, Abnormal tubulointerstitial morphology, Nephrocalcinosis, Vesi... |
ORPHA:904 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Posterior subcapsular cataract, Megalocornea, Corneal opacity, Iris coloboma |
ORPHA:536471 |
| Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Glycosuria,... |
ORPHA:411629 |
| Dyggve-Melchior-Clausen Disease |
|
Corneal opacity |
ORPHA:239 |
| Gaucher Disease |
|
Hepatomegaly, Pancytopenia, Corneal opacity, Proteinuria, Splenomegaly, Anemia, Hematuria, Thromb... |
ORPHA:355 |
| Lathosterolosis |
|
Cataract, Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Ho... |
OMIM:607330 |
| Peters Plus Syndrome |
|
Ureteral duplication, Multicystic kidney dysplasia, Cataract, Corneal opacity, Hypospadias, Renal... |
ORPHA:709 |
| Pneumocystosis |
|
Abnormal neutrophil count |
ORPHA:723 |
| Neurofibromatosis Type 1 |
|
Cataract, Corneal opacity, Abnormality of the upper urinary tract, Chronic myelogenous leukemia, ... |
ORPHA:636 |
| Mosaic Trisomy 1 |
|
Renal cortical cysts, Renal cyst, Opacification of the corneal stroma, Micropenis, Penile hypospa... |
ORPHA:1692 |
| Mucolipidosis Iii Alpha/Beta |
|
Opacification of the corneal stroma, Hyperopic astigmatism |
OMIM:252600 |
| Mucopolysaccharidosis, Type Iva |
|
Keratan sulfate excretion in urine, Chondroitin sulfate excretion in urine, Opacification of the ... |
OMIM:253000 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity |
ORPHA:364577 |
| Apolipoprotein A-I Deficiency |
|
Opacification of the corneal stroma |
ORPHA:425 |
| Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Corneal opacity, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemi... |
ORPHA:2072 |
| Hyper-Igd Syndrome |
|
Neutrophilia, Splenomegaly, Leukocytosis, Hepatosplenomegaly, Renal angiomyolipoma, Elevated urin... |
OMIM:260920 |
| Moebius Syndrome |
|
Corneal opacity |
ORPHA:570 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Hydroureter, Corneal opacity, Abnormality of the kidney, Abnormality of the upper urinary tract, ... |
ORPHA:2273 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Corneal opacity, Hypospadias, Sclerocornea, Epispadias, Posterior embr... |
ORPHA:2556 |
| Ablepharon Macrostomia Syndrome |
|
Corneal erosion, Hypoplasia of penis, Corneal opacity |
ORPHA:920 |
| Cardiac-Urogenital Syndrome |
|
Accessory spleen, Enlarged kidney, Patent urachus, Micropenis, Penoscrotal hypospadias |
OMIM:618280 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Polysplenia, Ne... |
OMIM:312870 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Cataract, Multicystic kidney dysplasia, Hypospadias, Sclerocornea, Renal hyp... |
ORPHA:818 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:99889 |
| Autosomal Dominant Cutis Laxa |
|
Corneal opacity, Unilateral renal agenesis, Pyelonephritis, Developmental cataract, Bladder diver... |
ORPHA:90348 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Corneal opacity, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in ... |
ORPHA:217085 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Corneal opacity, Heparan sulfate excretion in urine, Splenomegaly, Dermatan sulfate excretion in ... |
ORPHA:217093 |
| Oculoectodermal Syndrome |
|
Microcornea, Astigmatism, Opacification of the corneal stroma, Limbal dermoid, Bladder exstrophy |
OMIM:600268 |
| Fraser Syndrome 1 |
|
Corneal opacity, Hypospadias, Renal hypoplasia/aplasia, Renal hypoplasia, Micropenis |
OMIM:219000 |
| Microphthalmia, Syndromic 3 |
|
Micropenis, Cataract, Hypospadias, Sclerocornea |
OMIM:206900 |
| Encephalocraniocutaneous Lipomatosis |
|
Corneal opacity, Iris coloboma |
ORPHA:2396 |
| Fryns Syndrome |
|
Ureteral duplication, Hypospadias, Renal agenesis, Renal cyst, Stillbirth, Polysplenia, Opacifica... |
OMIM:229850 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... |
ORPHA:649 |
| Osteogenesis Imperfecta |
|
Hypercalciuria, Corneal opacity, Nephrolithiasis, Thrombocytopenia |
ORPHA:666 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Sclerocornea |
OMIM:300952 |
| Mucopolysaccharidosis Type 2 |
|
Splenomegaly, Corneal opacity, Hepatomegaly |
ORPHA:580 |
| Limb Body Wall Complex |
|
Lens subluxation, Corneal opacity, Iris coloboma, Abnormality of the kidney |
ORPHA:2369 |
| Larsen Syndrome |
|
Corneal opacity |
OMIM:150250 |
| Wolf-Hirschhorn Syndrome |
|
Hypospadias, Abnormality of the kidney, Sclerocornea, Abnormality of the urinary system, Megaloco... |
ORPHA:280 |
| Cockayne Syndrome B |
|
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Developmental cataract, Microcornea... |
OMIM:133540 |
| Phace Syndrome |
|
Cataract, Sclerocornea, Lens coloboma, Heterochromia iridis, Iris coloboma |
ORPHA:42775 |
| Roberts-Sc Phocomelia Syndrome |
|
Accessory spleen, Cataract, Corneal opacity, Hypospadias, Long penis, Horseshoe kidney, Stillbirt... |
OMIM:268300 |
| Van Den Ende-Gupta Syndrome |
|
Dilatation of the renal pelvis, Sclerocornea |
OMIM:600920 |
| Hereditary Acrokeratotic Poikiloderma |
|
Abnormal preputium morphology, Abnormality of the urethra, Keratoconjunctivitis, Opacification of... |
ORPHA:2907 |
| Digeorge Syndrome |
|
Renal dysplasia, Renal insufficiency, Sclerocornea, Unilateral renal agenesis, Thrombocytopenia, ... |
OMIM:188400 |
| Bartsocas-Papas Syndrome 1 |
|
Ectopic kidney, Micropenis, Popliteal pterygium, Opacification of the corneal stroma, Pterygium, ... |
OMIM:263650 |
| Wiedemann-Rautenstrauch Syndrome |
|
Recurrent urinary tract infections, Cataract, Corneal opacity, Hypospadias, Wide penis, Vesicoure... |
ORPHA:3455 |
| Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Cataract, Keratitis, Aminoaciduria, Opacification of the corneal str... |
ORPHA:910 |
| Neurocardiofaciodigital Syndrome |
|
Vesicoureteral reflux, Cataract, Sclerocornea |
OMIM:619869 |
| Cockayne Syndrome A |
|
Hepatomegaly, Renal insufficiency, Cataract, Proteinuria, Splenomegaly, Opacification of the corn... |
OMIM:216400 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Corneal opacity |
OMIM:608670 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma, Cardiomegaly |
ORPHA:79280 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353281 |
| Stuve-Wiedemann Syndrome 1 |
|
Opacification of the corneal stroma |
OMIM:601559 |
| African Trypanosomiasis |
|
Aggressive behavior, Abnormality of the endocrine system, Abnormality of renin-angiotensin system... |
ORPHA:3385 |
| Yunis-Varon Syndrome |
|
Cataract, Hypospadias, Sclerocornea, Cardiomegaly, Renovascular hypertension, Renal artery stenos... |
ORPHA:3472 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Renal dysplasia, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agen... |
OMIM:308205 |
| Hutchinson-Gilford Progeria Syndrome |
|
Corneal ulceration, Corneal opacity |
ORPHA:740 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Micropenis, Multicystic kidney dysplasia, Hydronephrosis, Opacification of the corneal stroma |
OMIM:615287 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353277 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Megalocornea, Cataract, Opacification of the corneal stroma |
OMIM:253280 |
| Microphthalmia, Syndromic 6 |
|
Microcornea, Renal hypoplasia, Sclerocornea |
OMIM:607932 |
| Yunis-Varon Syndrome |
|
Micropenis, Cataract, Hypospadias, Sclerocornea |
OMIM:216340 |
