| Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal dystrophy, Corneal opacity, Band keratopathy |
OMIM:300779 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
| Panic Disorder 1 |
|
Anxiety |
OMIM:167870 |
| Severe Primary Trimethylaminuria |
|
Aggressive behavior, Anxiety, Emotional lability, Low self esteem, Depression, Negative affectivity |
ORPHA:468726 |
| Intellectual Developmental Disorder, Autosomal Recessive 25 |
|
Anxiety |
OMIM:614346 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Obsessive-Compulsive Disorder |
|
Skin-picking, Depression, Anxiety |
OMIM:164230 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... |
OMIM:617610 |
| Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
| Cataract-Microcornea Syndrome |
|
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Corneal opacity, Ectopia lentis |
OMIM:613086 |
| Major Depressive Disorder |
|
Depression |
OMIM:608516 |
| Corneal Dystrophy, Groenouw Type I |
|
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy |
OMIM:121900 |
| Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
| Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
| Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
| Geniospasm 1 |
|
Anxiety |
OMIM:190100 |
| Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
| Thiel-Behnke Corneal Dystrophy |
|
Central corneal dystrophy, Astigmatism, Subepithelial corneal opacities, Opacification of the cor... |
ORPHA:98960 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Corneal opacity, Hepatomegaly, Microcornea |
ORPHA:2432 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:3177 |
| Corneal Dystrophy, Epithelial Basement Membrane |
|
Corneal dystrophy, Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy |
OMIM:121820 |
| Lattice Corneal Dystrophy Type I |
|
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... |
ORPHA:98964 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal opacity, Corneal guttata, Corneal stromal edema |
OMIM:613267 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Macular Dystrophy, Corneal |
|
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea |
OMIM:217800 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Cerulean cataract, Microcornea, Iris coloboma, Peters anomaly, Cor... |
OMIM:610202 |
| Ring Dermoid Of Cornea |
|
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... |
OMIM:180550 |
| Cornea Plana 2, Autosomal Recessive |
|
Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea |
OMIM:217300 |
| Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
| Dystonia 11, Myoclonic |
|
Agoraphobia, Panic attack, Depression, Anxiety |
OMIM:159900 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Corneal Endothelial Dystrophy |
|
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... |
OMIM:217700 |
| Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy |
OMIM:608470 |
| Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
| Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... |
OMIM:269400 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology |
ORPHA:293621 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Hepatomegaly |
ORPHA:1980 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
| Anterior Segment Dysgenesis 6 |
|
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... |
OMIM:617315 |
| Granular Corneal Dystrophy Type Ii |
|
Granular corneal dystrophy, Central opacification of the cornea, Corneal crystals, Subepithelial ... |
ORPHA:98963 |
| Nephronophthisis 16 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Nephronophthisis, R... |
OMIM:615382 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... |
ORPHA:293603 |
| Focal Segmental Glomerulosclerosis 7 |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Renal hypoplasia, Proteinuria, Focal segmenta... |
OMIM:616002 |
| Megalocornea |
|
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... |
OMIM:309300 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... |
OMIM:122000 |
| Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... |
ORPHA:708 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Enlarged kidney, Splenomegaly, Hepatomegaly |
OMIM:615285 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Renal interstitial fibrosis, Enlarged kidney, Hepatosplenomegaly, Renal cyst, Reduced renal corti... |
OMIM:619902 |
| Early-Onset Schizophrenia |
|
Diminished motivation, Abnormal emotion/affect behavior, Suicidal ideation, Unhappy demeanor, Emo... |
ORPHA:96369 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Hematuria, Cataract, Iris coloboma, Corneal opacity |
ORPHA:1473 |
| Congenital Anomalies Of Kidney And Urinary Tract 3 |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Hydronephr... |
OMIM:618270 |
| Winchester Syndrome |
|
Corneal opacity |
OMIM:277950 |
| Granular Corneal Dystrophy Type I |
|
Central corneal dystrophy, Abnormal corneal epithelium morphology, Central opacification of the c... |
ORPHA:98962 |
| Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Decreased corneal ... |
ORPHA:98969 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
| Vesicoureteral Reflux 2 |
|
Renal hypoplasia, Vesicoureteral reflux |
OMIM:610878 |
| Anterior Segment Dysgenesis 2 |
|
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Corneal scarrin... |
ORPHA:171673 |
| Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating corticosterone level, Increased circulating renin level, Increased circulat... |
OMIM:610600 |
| Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia |
OMIM:148200 |
| Fuchs Endothelial Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Abnormal Descemet membrane morphology, Corneal opaci... |
ORPHA:98974 |
| Cataract 47 |
|
Glycosuria, Cataract, Microcornea |
OMIM:612018 |
| Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
| Anterior Segment Dysgenesis 1 |
|
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... |
OMIM:107250 |
| Corneal Dystrophy, Meesmann, 1 |
|
Corneal dystrophy, Punctate opacification of the cornea |
OMIM:122100 |
| Nephronophthisis 2 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Absence of renal corticomedullary differentiatio... |
OMIM:602088 |
| Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... |
OMIM:604229 |
| Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal guttata, Corneal stromal edema, Abnormal Descemet membrane morphology, Keratitis, Corneal... |
OMIM:613270 |
| Aa Amyloidosis |
|
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Increased serum testosterone level, Increased circulating cortisol level, Decreased circulating d... |
OMIM:610489 |
| Epithelial Recurrent Erosion Dystrophy |
|
Irregular astigmatism, Corneal scarring, Keratoconjunctivitis sicca, Subepithelial corneal opacit... |
ORPHA:293381 |
| Adrenocortical Carcinoma |
|
Increased serum estradiol, Hyperaldosteronism, Anxiety, Increased circulating cortisol level, Adr... |
ORPHA:1501 |
| Pandas |
|
Abnormal fear/anxiety-related behavior, Separation insecurity, Emotional lability, Depression, Ag... |
ORPHA:66624 |
| Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
| Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal guttata, Corneal dystrophy |
OMIM:610158 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Increased circulating cortisol level, Decreased circulating ACTH level, Emotional lability, Pigme... |
OMIM:610475 |
| Late-Onset Familial Hypoaldosteronism |
|
Increased circulating renin level, Decreased circulating aldosterone level, Abnormal circulating ... |
ORPHA:556037 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Hypospadias, Micropenis, Developmental cataract |
OMIM:618815 |
| Autosomal Dominant Keratitis |
|
Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovascularization, Micr... |
ORPHA:2334 |
| Congenital Primary Aphakia |
|
Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia |
ORPHA:83461 |
| Posterior Polymorphous Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... |
ORPHA:98973 |
| Brittle Cornea Syndrome 2 |
|
Keratoglobus, Megalocornea, Decreased corneal thickness, Corneal perforation, Flat cornea, Kerato... |
OMIM:614170 |
| Lcat Deficiency |
|
Renal insufficiency, Acute kidney injury, Stage 5 chronic kidney disease, Decreased glomerular fi... |
ORPHA:650 |
| Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
| Early-Onset Familial Hypoaldosteronism |
|
Increased circulating renin level, Decreased circulating aldosterone level, Abnormal circulating ... |
ORPHA:556030 |
| Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney, Large for gestational age |
OMIM:618272 |
| Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... |
ORPHA:67043 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Multiple small medullary renal cysts, Neonatal death, Enlarged kidney, Polycystic kidney dysplasi... |
OMIM:263200 |
| Fish-Eye Disease |
|
Corneal opacity, Splenomegaly, Hepatomegaly |
ORPHA:79292 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity |
ORPHA:2370 |
| Isolated Optic Nerve Hypoplasia/Aplasia |
|
Aplasia/Hypoplasia of the iris, Vesicoureteral reflux, Corneal opacity |
ORPHA:137902 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Stage 5 chronic kidney disease, Corneal opacity, Proteinuria, Renal insufficiency, Bilateral rena... |
OMIM:166300 |
| Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
| Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged kidney, Enlarged polycystic ovaries |
ORPHA:90301 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Precocious puberty in females, Increased urinary 11-deoxycorticosterone level, Adrenocorticotropi... |
ORPHA:90793 |
| Mucolipidosis Type Iii |
|
Corneal opacity |
ORPHA:577 |
| Cataract 1, Multiple Types |
|
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea |
OMIM:116200 |
| Sialidosis Type 2 |
|
Corneal opacity, Nephropathy, Splenomegaly, Hepatomegaly |
ORPHA:87876 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Renal insufficiency, Unilateral renal agenesis |
ORPHA:281090 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged kidney, Pyelonephrit... |
ORPHA:730 |
| Mucolipidosis Iv |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:252650 |
| Glucocorticoid Resistance, Generalized |
|
Increased serum testosterone level, Increased circulating cortisol level, Increased circulating A... |
OMIM:615962 |
| Atopic Keratoconjunctivitis |
|
Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opacity, Chemosis, Keratitis |
ORPHA:163934 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Hurler-Scheie Syndrome |
|
Corneal opacity, Splenomegaly, Hepatomegaly |
ORPHA:93476 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Corneal opacity, Developmental glaucoma, Unilateral renal agenesis, Aniridia |
ORPHA:1064 |
| Erythrokeratodermia Variabilis |
|
Cataract, Corneal opacity |
ORPHA:317 |
| Microphthalmia, Syndromic 16 |
|
Sclerocornea |
OMIM:611038 |
| Congenital Rubella Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Hepatomegaly, Splenomegaly |
ORPHA:290 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Nephropathy, Hematuria, Corneal opacity, Proteinuria |
ORPHA:1765 |
| Norrie Disease |
|
Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Cataract, Corneal opac... |
OMIM:310600 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Corneal opacity, Unilateral renal agenesis, Developmental cataract |
OMIM:616603 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Microcornea, Astigmatism, Cataract, Corneal opacity, Myopic astigmatism |
OMIM:152950 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Enlarged kidney, Cystic renal dysplasia, Stillbirth, Hepatomegaly |
OMIM:615415 |
| Alpha-Mannosidosis |
|
Corneal opacity, Cataract, Splenomegaly, Hepatomegaly |
ORPHA:61 |
| Brachyolmia Type 1, Toledo Type |
|
Opacification of the corneal stroma, Increased urinary disaccharide excretion |
OMIM:271630 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Left ventricular hypertrophy, Corneal opacity |
OMIM:613153 |
| Ophthalmomandibulomelic Dysplasia |
|
Megalocornea, Corneal opacity |
ORPHA:2741 |
| Bartsocas-Papas Syndrome 2 |
|
Antecubital pterygium, Popliteal pterygium, Corneal opacity, Axillary pterygium |
OMIM:619339 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Leukocoria, Posterior synechiae of the anterior chamber, Microcornea, Buphthalmos, Iris coloboma,... |
OMIM:221900 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Enlarged kidney, Neonatal death, Urethral atresia, Hydronephrosis |
OMIM:314390 |
| Harel-Yoon Syndrome |
|
Corneal opacity, Developmental cataract |
OMIM:617183 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Long-chain dicarboxylic aciduria, ... |
OMIM:608836 |
| Denys-Drash Syndrome |
|
Nephroblastoma, Neonatal death, Nephrotic syndrome, Stage 5 chronic kidney disease, Enlarged kidn... |
OMIM:194080 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Proteinuria, Mucopolysacchariduria, Opacification of the corneal stroma, Nephrotic syndrome |
OMIM:215250 |
| Sialidosis Type 1 |
|
Aminoaciduria, Urinary excretion of sialylated oligosaccharides, Increased urinary O-linked sialo... |
ORPHA:812 |
| Ichthyosis, X-Linked |
|
Opacification of the corneal stroma |
OMIM:308100 |
| Scheie Syndrome |
|
Corneal opacity |
OMIM:607016 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Hyperaldosteronism, Increased circulating cortisol level, Macronodular adrenal hyperplasia, Decre... |
ORPHA:189427 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Membranoproliferative glomerulonephritis, Macroscopic hematuria, Proteinuria, Ob... |
ORPHA:251004 |
| Cystinosis |
|
Aminoaciduria, Nephropathy, Corneal opacity, Proteinuria, Renal insufficiency, Renal tubular dysf... |
ORPHA:213 |
| Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma |
ORPHA:461 |
| Dermochondrocorneal Dystrophy |
|
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities |
OMIM:221800 |
| Diaphanospondylodysostosis |
|
Enlarged kidney, Cystic renal dysplasia, Nephrogenic rest, Horseshoe kidney, Nephroblastomatosis |
OMIM:608022 |
| Sjogren-Larsson Syndrome |
|
Opacification of the corneal epithelium, Astigmatism |
OMIM:270200 |
| Short Syndrome |
|
Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Hypoplasia of the iris, Corneal o... |
ORPHA:3163 |
| Al-Gazali Syndrome |
|
Corneal opacity, Sclerocornea, Hydronephrosis |
OMIM:609465 |
| Zellweger Syndrome |
|
Brushfield spots, Multicystic kidney dysplasia, Posterior embryotoxon, Hypospadias, Cataract, Cor... |
ORPHA:912 |
| Juvenile Sialidosis Type 2 |
|
Abnormality of the kidney, Hepatosplenomegaly, Cataract, Corneal opacity, Visceromegaly, Hepatome... |
ORPHA:93399 |
| Coloboma, Ocular, Autosomal Dominant |
|
Vesicoureteral reflux, Peters anomaly, Corneal opacity |
OMIM:120200 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
3-Methylglutaconic aciduria, Corneal opacity, Cataract |
ORPHA:496790 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Nephrotic syndrome, Enlarged kidney, Nephritis, Hepatomegaly, Proteinuria,... |
OMIM:617303 |
| Mietens Syndrome |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea |
ORPHA:2557 |
| Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
| Scheie Syndrome |
|
Corneal opacity, Mucopolysacchariduria, Splenomegaly, Hepatomegaly |
ORPHA:93474 |
| Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Conjunctivitis, Keratitis, Corneal opacity |
OMIM:602562 |
| Stromme Syndrome |
|
Microcornea, Iris coloboma, Peters anomaly, Cataract, Bilateral renal hypoplasia, Stillbirth, Scl... |
OMIM:243605 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal dysplasia, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Ur... |
OMIM:208540 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Corneal opacity |
OMIM:618961 |
| Neurotrophic Keratopathy |
|
Corneal scarring, Corneal stromal edema, Astigmatism, Corneal perforation, Recurrent corneal eros... |
ORPHA:137596 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Vesicoureteral reflux, Astigmatism, Hypospadias, Duplicated collecting system, Corneal opacity, H... |
OMIM:301056 |
| Bartsocas-Papas Syndrome |
|
Renal hypoplasia/aplasia, Popliteal pterygium, Corneal opacity |
ORPHA:1234 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Corneal opacity |
ORPHA:2788 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Keratoconjunctivitis sicca, Microcornea, Cataract, Corneal dystrophy, Sclerocornea |
ORPHA:1806 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Ocular anterior segment dysgenesis, Iris coloboma, Sclerocornea, Microcornea |
OMIM:615145 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Corneal opacity |
ORPHA:1867 |
| Congenital Sialidosis Type 2 |
|
Abnormality of the kidney, Developmental cataract, Hepatosplenomegaly, Cataract, Corneal opacity,... |
ORPHA:93400 |
| Galactosialidosis |
|
Opacification of the corneal stroma, Conjunctival telangiectasia, Visceromegaly, Hepatosplenomegaly |
OMIM:256540 |
| Persistent Hyperplastic Primary Vitreous |
|
Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow anterior chamber, Cataract,... |
ORPHA:91495 |
| Glycogen Storage Disease Ia |
|
Enlarged kidney, Decreased glomerular filtration rate, Hepatomegaly, Proteinuria, Focal segmental... |
OMIM:232200 |
| Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Stage 5 chronic kidney disease, Proteinuria, Corneal crystals |
OMIM:219900 |
| Alpha-Mannosidosis, Adult Form |
|
Cataract, Corneal opacity, Oligosacchariduria, Hepatosplenomegaly |
ORPHA:309288 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Increased circulating cortisol level, Type II diabetes mellitus, Decreased circulating ACTH level... |
ORPHA:189439 |
| Multiple Sulfatase Deficiency |
|
Cataract, Mucopolysacchariduria, Corneal opacity, Hepatomegaly, Splenomegaly |
ORPHA:585 |
| Olmsted Syndrome 1 |
|
Opacification of the corneal stroma, Corneal opacity |
OMIM:614594 |
| Rodrigues Blindness |
|
Sclerocornea, Microcornea |
OMIM:268320 |
| 46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Primary gonadal insufficiency, Decreased serum estradiol, Abnormal circulating corticosterone lev... |
ORPHA:90796 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal response to human chorionic gonadotrophin stimulation test, Decreased circulating dehydr... |
ORPHA:95699 |
| Glycogen Storage Disease Ib |
|
Enlarged kidney, Decreased glomerular filtration rate, Hepatomegaly, Proteinuria, Focal segmental... |
OMIM:232220 |
| Hurler-Scheie Syndrome |
|
Dermatan sulfate excretion in urine, Corneal opacity, Hepatomegaly, Splenomegaly, Heparan sulfate... |
OMIM:607015 |
| Familial Dysautonomia |
|
Abnormal pupil morphology, Glomerulopathy, Corneal erosion, Abnormality of the kidney, Heterochro... |
ORPHA:1764 |
| Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Enlarged kidney, Weight loss, Hepatomegaly |
ORPHA:79128 |
| Tyrosinemia, Type I |
|
Enlarged kidney, Glomerular sclerosis, Failure to thrive, Hepatomegaly, Nephrocalcinosis, Renal i... |
OMIM:276700 |
| H Syndrome |
|
Corneal arcus, Abnormality of the kidney, Enlarged kidney, Hepatosplenomegaly, Micropenis |
ORPHA:168569 |
| Microphthalmia With Brain And Digit Anomalies |
|
Iris coloboma, Cataract, Sclerocornea, Microcornea |
ORPHA:139471 |
| Wagro Syndrome |
|
Nephroblastoma, Cataract, Corneal opacity, Proteinuria, Aniridia |
OMIM:612469 |
| Ocular Cystinosis |
|
Corneal crystals |
ORPHA:411641 |
| Lowry-Maclean Syndrome |
|
Corneal opacity, Hypospadias, Megalocornea, Developmental glaucoma |
ORPHA:2409 |
| 8Q21.11 Microdeletion Syndrome |
|
Iris hypopigmentation, Hypoplasia of penis, Cataract, Corneal opacity, Sclerocornea |
ORPHA:284160 |
| Walker-Warburg Syndrome |
|
Hypoplasia of penis, Microcornea, Iris coloboma, Cataract, Corneal opacity |
ORPHA:899 |
| Schimke Immuno-Osseous Dysplasia |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Minimal change glomerulonephritis, N... |
ORPHA:1830 |
| Ophthalmomandibulomelic Dysplasia |
|
Opacification of the corneal stroma, Megalocornea |
OMIM:164900 |
| Oculomaxillofacial Dysostosis |
|
Corneal opacity |
ORPHA:1794 |
| Fucosidosis |
|
Cardiomegaly, Mucopolysacchariduria, Corneal opacity, Hepatomegaly |
ORPHA:349 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Abnormal cornea morphology, Corneal opacity |
ORPHA:357058 |
| Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma |
OMIM:230650 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Corneal opacity, Hyperphosphaturia, Horseshoe kidney |
OMIM:163200 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Corneal opacity |
OMIM:602400 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Corneal scarring, Keratitis, Opacification of the corneal stroma, Recurrent corneal erosions, Cor... |
OMIM:256800 |
| Distal Monosomy 6P |
|
Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Cornea... |
ORPHA:96125 |
| Oculoauricular Syndrome |
|
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Iris cyst, Ocular anterior se... |
OMIM:612109 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Ocular albinism, Iris hypopigmentation, Cataract, Ureteral stenosis, Corneal opacity, Abnormality... |
ORPHA:2719 |
| Multiple Sulfatase Deficiency |
|
Corneal opacity, Mucopolysacchariduria, Splenomegaly, Hepatomegaly |
OMIM:272200 |
| 3Mc Syndrome 3 |
|
Corneal opacity, Micropenis, Penoscrotal hypospadias, Horseshoe kidney |
OMIM:248340 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hypospadias, Iris coloboma, Hypoplasia of penis, Sclerocornea |
ORPHA:77298 |
| Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Renal cortical cysts, Pancreatic hyperplasia, Nephrocalcin... |
OMIM:130650 |
| Aniridia 1 |
|
Corneal erosion, Hypoplasia of the iris, Corneal neovascularization, Anterior subcapsular catarac... |
OMIM:106210 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Enlarged kidney, Polycystic kidney dysplasia, Micropenis, Renal dysplasia |
OMIM:613091 |
| Mucopolysaccharidosis, Type Ivb |
|
Chondroitin sulfate excretion in urine, Keratan sulfate excretion in urine, Corneal opacity, Hepa... |
OMIM:253010 |
| Mucolipidosis Ii Alpha/Beta |
|
Megalocornea, Enlarged kidney, Mucopolysacchariduria, Hepatomegaly, Cardiomegaly, Opacification o... |
OMIM:252500 |
| Acrocephalopolydactylous Dysplasia |
|
Enlarged kidney, Cystic renal dysplasia, Hepatomegaly |
OMIM:200995 |
| Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Hydronephrosis, Tubulointerstitial nephritis, Abnormal ureter morpho... |
ORPHA:449395 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Conjunctivitis, Nephrotic syndrome, Enlarged kidney, Hepatosplenomegaly, Proteinuria, Urinary gly... |
ORPHA:505248 |
| Mucolipidosis Type Iv |
|
Corneal opacity |
ORPHA:578 |
| Hurler Syndrome |
|
Dermatan sulfate excretion in urine, Hepatosplenomegaly, Corneal opacity, Hepatomegaly, Opacifica... |
OMIM:607014 |
| Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Limbal dermoid, Pelvic kidney, Sclerocornea, Hydronephrosis |
OMIM:613001 |
| Kaposiform Lymphangiomatosis |
|
Enlarged kidney, Multiple renal cysts, Splenomegaly, Hepatosplenomegaly |
ORPHA:464329 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Nephroblastoma, Multicystic kidney dysplasia, Bifid ureter, Renal malrotation, Enlarged kidney, A... |
ORPHA:500095 |
| Mosaic Trisomy 9 |
|
Renal dysplasia, Hypoplasia of penis, Multiple renal cysts, Horseshoe kidney, Corneal opacity, Hy... |
ORPHA:99776 |
| Sanjad-Sakati Syndrome |
|
Astigmatism, Hypoplasia of penis, Corneal opacity |
ORPHA:2323 |
| Tangier Disease |
|
Opacification of the corneal stroma, Left ventricular hypertrophy, Splenomegaly, Hepatomegaly |
OMIM:205400 |
| Oculocerebrocutaneous Syndrome |
|
Iris coloboma, Corneal opacity |
ORPHA:1647 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Opacification of the corneal stroma, Hypospadias, Anterior chamber synechiae, Microcornea |
OMIM:601499 |
| Endocrine-Cerebroosteodysplasia |
|
Enlarged kidney, Hypospadias, Hyperechogenic kidneys, Microphallus |
OMIM:612651 |
| Focal Dermal Hypoplasia |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hypoplasia of the iris, Ectopia lentis, I... |
ORPHA:2092 |
| Mucopolysaccharidosis Type 7 |
|
Corneal opacity, Mucopolysacchariduria, Splenomegaly |
ORPHA:584 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Cataract, Corneal opacity, Conjunctival hyperemia |
ORPHA:2399 |
| Mucopolysaccharidosis, Type Vii |
|
Dermatan sulfate excretion in urine, Corneal opacity, Hepatomegaly, Urinary glycosaminoglycan exc... |
OMIM:253220 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Microcornea, Hypospadias, Cataract, Ectopia pupillae, Sclerocornea |
OMIM:615877 |
| Meacham Syndrome |
|
Enlarged kidney, Neonatal death, Horseshoe kidney, Stillbirth |
OMIM:608978 |
| Cystinosis, Adult Nonnephropathic |
|
Corneal crystals |
OMIM:219750 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Opacification of the corneal stroma |
OMIM:601356 |
| Fryns Syndrome |
|
Vesicoureteral reflux, Multicystic kidney dysplasia, Hypospadias, Corneal opacity, Hydronephrosis |
ORPHA:2059 |
| Hyperparathyroidism, Transient Neonatal |
|
Enlarged kidney, Unilateral renal agenesis |
OMIM:618188 |
| Gm1 Gangliosidosis |
|
Corneal opacity, Splenomegaly, Hepatosplenomegaly |
ORPHA:354 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Stage 5 chronic kidney disease, Enlarged kidney, Failure to thrive, Hepatomegaly, Proteinuria, Ne... |
ORPHA:79259 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Aminoaciduria, Brushfield spots, Polycystic kidney dysplasia, Cataract, Hepatomegaly, Opacificati... |
OMIM:214110 |
| Alg9-Cdg |
|
Hypoplasia of the bladder, Enlarged kidney, Ureteral hypoplasia, Hepatomegaly, Abnormal renal art... |
ORPHA:79328 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Enlarged kidney, Cataract, Cardiomegaly |
OMIM:261740 |
| Fabry Disease |
|
Glomerulopathy, Nephrotic syndrome, Corneal dystrophy, Abnormal renal tubule morphology, Left ven... |
ORPHA:324 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Unilateral renal agenesis, Renal cyst, Astigmatism, Hypospadias, Pelvic kidney, Corneal opacity, ... |
ORPHA:464311 |
| Farber Disease |
|
Corneal opacity, Abnormal conjunctiva morphology, Opacification of the corneal stroma, Hepatosple... |
ORPHA:333 |
| Wilson Disease |
|
Kayser-Fleischer ring, Splenomegaly, Hepatomegaly |
ORPHA:905 |
| Mosaic Trisomy 8 |
|
Vesicoureteral reflux, Corneal opacity, Hydronephrosis |
ORPHA:96061 |
| Mucolipidosis Iii Gamma |
|
Opacification of the corneal stroma |
OMIM:252605 |
| Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Congenital megaureter, Enlarged kidney, Large for gestatio... |
ORPHA:116 |
| Tyrosinemia Type 2 |
|
Corneal opacity |
ORPHA:28378 |
| Pseudo-Torch Syndrome 1 |
|
Renal insufficiency, Cataract, Hepatomegaly, Opacification of the corneal stroma, Splenomegaly |
OMIM:251290 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Megalocornea, Renal dysplasia, Buphthalmos, Cataract, Peters anomaly, Corneal opacity |
OMIM:236670 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney |
ORPHA:276280 |
| 3Q29 Microduplication Syndrome |
|
Iris coloboma, Sclerocornea, Aniridia, Cataract |
ORPHA:251038 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Recurrent urinary tract infections, Acute kidney injury, Enlarged kidney, Polycystic kidney dyspl... |
ORPHA:731 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Unilateral renal agenesis, Renal cyst, Astigmatism, Hypospadias, Pelvic kidney, Corneal opacity, ... |
ORPHA:464306 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Posterior embryotoxon, Ocular anterior segment dysgenesis, Axenfeld anomaly, Peters anomaly, Opac... |
OMIM:612582 |
| Mucopolysaccharidosis Type 4 |
|
Mucopolysacchariduria, Corneal opacity |
ORPHA:582 |
| Histiocytoid Cardiomyopathy |
|
Megalocornea, Renal cyst, Corneal opacity, Hepatomegaly, Congenital aphakia, Cardiomegaly |
ORPHA:137675 |
| Pelvis-Shoulder Dysplasia |
|
Iris coloboma, Opacification of the corneal stroma |
OMIM:169550 |
| Leprechaunism |
|
Decreased body weight, Enlarged kidney, Long penis, Failure to thrive, Hepatomegaly, Enlarged ova... |
ORPHA:508 |
| Schimke Immunoosseous Dysplasia |
|
Nephrotic syndrome, Stage 5 chronic kidney disease, Opacification of the corneal stroma, Astigmat... |
OMIM:242900 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Astigmatism, Sclerocornea |
ORPHA:2095 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Opacification of the corneal stroma |
ORPHA:3453 |
| Helsmoortel-Van Der Aa Syndrome |
|
Enuresis nocturna, Recurrent urinary tract infections, Enlarged kidney, Failure to thrive, Trunca... |
OMIM:615873 |
| Apparent Mineralocorticoid Excess |
|
Decreased circulating renin level, Decreased circulating aldosterone level, Abnormality of circul... |
ORPHA:320 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal pupil morphology, Glomerulopathy, Aminoaciduria, Lentiglobus, Abnormal renal tubule morp... |
ORPHA:534 |
| Mucopolysaccharidosis Type 3 |
|
Cataract, Mucopolysacchariduria, Corneal opacity, Hepatomegaly, Cardiomegaly, Opacification of th... |
ORPHA:581 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Lens subluxation, Corneal opacity, Ectopia pupillae |
ORPHA:85167 |
| Hurler Syndrome |
|
Corneal opacity, Mucopolysacchariduria, Splenomegaly, Hepatomegaly |
ORPHA:93473 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Vesicoureteral reflux, Renal malrotation, Axial malrotation of the kidney, Hepatosplenomegaly, Ca... |
OMIM:274000 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Enlarged kidney, Renal agenesis, Failure to thrive, Horseshoe kidney, Hepatomegaly, Cardiomegaly |
OMIM:306955 |
| Mucopolysaccharidosis Type 1 |
|
Corneal opacity, Mucopolysacchariduria, Splenomegaly |
ORPHA:579 |
| Bietti Crystalline Corneoretinal Dystrophy |
|
Marginal corneal dystrophy, Corneal crystals |
OMIM:210370 |
| Mucoepithelial Dysplasia, Hereditary |
|
Keratoconjunctivitis, Hematuria, Corneal neovascularization, Cataract, Opacification of the corne... |
OMIM:158310 |
| Alpha-Mannosidosis, Infantile Form |
|
Recurrent urinary tract infections, Hepatosplenomegaly, Astigmatism, Cataract, Corneal opacity, O... |
ORPHA:309282 |
| Gomez-Lopez-Hernandez Syndrome |
|
Opacification of the corneal stroma |
OMIM:601853 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Hypospadias, Iris coloboma, Peters anomaly, Cataract, Micropenis, Sclerocornea, Chordee |
OMIM:309801 |
| Cushing Disease |
|
Pituitary corticotropic cell adenoma, Suicidal ideation, Increased circulating cortisol level, In... |
ORPHA:96253 |
| Ogden Syndrome |
|
Cardiomegaly, Polycystic kidney dysplasia, Enlarged kidney, Global glomerulosclerosis |
OMIM:300855 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Cataract, Micropenis, Sclerocornea |
OMIM:614230 |
| Tbck-Related Intellectual Disability Syndrome |
|
Corneal opacity, Neurogenic bladder |
ORPHA:488632 |
| Carpenter Syndrome 1 |
|
Hydroureter, Opacification of the corneal stroma, Microcornea, Hydronephrosis |
OMIM:201000 |
| Lathosterolosis |
|
Hypoplasia of penis, Microcornea, Cataract, Horseshoe kidney, Hepatomegaly, Opacification of the ... |
ORPHA:46059 |
| Premature Aging Syndrome, Penttinen Type |
|
Corneal opacity, Corneal stromal edema |
OMIM:601812 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Corneal opacity, Peripheral opacification of the cornea |
OMIM:259600 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Keratoconjunctivitis sicca, Renal cyst, Buphthalmos, Hypospadias, Corneal opacity, Corneal dystrophy |
ORPHA:495875 |
| Congenital Disorder Of Deglycosylation 1 |
|
Chondroitin sulfate excretion in urine, 3-Methylglutaconic aciduria, Keratan sulfate excretion in... |
OMIM:615273 |
| Apolipoprotein A-I Deficiency |
|
Opacification of the corneal stroma |
ORPHA:425 |
| Infantile Nephropathic Cystinosis |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Corneal crystals, Abnormal tubulointerstitial morph... |
ORPHA:411629 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Aminoaciduria, Brushfield spots, Hypospadias, Cataract, Hepatomegaly, Albuminuria, Renal cortical... |
OMIM:214100 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Nephroblastoma, Cataract, Multicystic kidney dysplasia, Corneal opacity |
ORPHA:1052 |
| Gaucher Disease, Type Iiic |
|
Cardiomegaly, Opacification of the corneal stroma, Splenomegaly, Hepatomegaly |
OMIM:231005 |
| De Barsy Syndrome |
|
Cataract, Corneal opacity |
ORPHA:2962 |
| Incontinentia Pigmenti |
|
Keratitis, Cataract, Corneal opacity |
ORPHA:464 |
| Mucopolysaccharidosis Type 6 |
|
Opacification of the corneal stroma, Mucopolysacchariduria, Splenomegaly |
ORPHA:583 |
| Proboscis Lateralis |
|
Ureteral agenesis, Unilateral renal agenesis, Microcornea, Duplication of renal pelvis, Iris colo... |
ORPHA:141099 |
| Galloway-Mowat Syndrome 1 |
|
Nephrotic syndrome, Hypoplasia of the iris, Opacification of the corneal stroma, Cataract, Diffus... |
OMIM:251300 |
| Wilson Disease |
|
Aminoaciduria, Glycosuria, Hyperphosphaturia, Renal tubular dysfunction, Increased urinary copper... |
OMIM:277900 |
| Mucopolysaccharidosis, Type Vi |
|
Corneal opacity, Dermatan sulfate excretion in urine, Splenomegaly, Hepatomegaly |
OMIM:253200 |
| Tangier Disease |
|
Left ventricular hypertrophy, Corneal opacity, Hepatosplenomegaly |
ORPHA:31150 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Posterior subcapsular cataract, Iris coloboma, Megalocornea, Corneal opacity |
ORPHA:536471 |
| Williams Syndrome |
|
Aplasia/Hypoplasia of the iris, Abnormality of the bladder, Blue irides, Nephrolithiasis, Vesicou... |
ORPHA:904 |
| Mucolipidosis Iii Alpha/Beta |
|
Opacification of the corneal stroma, Hyperopic astigmatism |
OMIM:252600 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Brushfield spots, Polycystic kidney dysplasia, Hepatosplenomegaly, Renal cyst, Hypospadias, Catar... |
OMIM:614866 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pituitary corticotropic cell adenoma, Suicidal ideation, Atypical pulmonary carcinoid tumor, Adre... |
ORPHA:99889 |
| Dyggve-Melchior-Clausen Disease |
|
Corneal opacity |
ORPHA:239 |
| Chime Syndrome |
|
Abnormality of the kidney, Corneal opacity, Hydronephrosis |
ORPHA:3474 |
| Mosaic Trisomy 1 |
|
Penile hypospadias, Renal cortical cysts, Renal cyst, Opacification of the corneal stroma, Microp... |
ORPHA:1692 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Corneal opacity |
ORPHA:364577 |
| Meckel Syndrome |
|
Urethral atresia, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the iris, Microcornea, Cata... |
ORPHA:564 |
| Peters Plus Syndrome |
|
Renal duplication, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Anterior chamber synec... |
ORPHA:709 |
| Mucopolysaccharidosis, Type Iva |
|
Chondroitin sulfate excretion in urine, Keratan sulfate excretion in urine, Opacification of the ... |
OMIM:253000 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Posterior embryotoxon, Epispadias, Hypospadias, Corneal opacity, Sclerocornea, Abnormal penis mor... |
ORPHA:2556 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hypoplasia of the iris, Polycoria, Corneal neovascularization, Developmental cataract, Microcorne... |
OMIM:175780 |
| Moebius Syndrome |
|
Corneal opacity |
ORPHA:570 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Conjunctivitis, Corneal erosion, Abnormality of the kidney, Abnormality of the upper urinary trac... |
ORPHA:2273 |
| Kindler Epidermolysis Bullosa |
|
Conjunctivitis, Phimosis, Urethral stricture, Corneal opacity, Neoplasm of the urethra |
ORPHA:2908 |
| Autosomal Dominant Cutis Laxa |
|
Bladder diverticulum, Pyelonephritis, Unilateral renal agenesis, Developmental cataract, Corneal ... |
ORPHA:90348 |
| Smith-Lemli-Opitz Syndrome |
|
Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hypoplasia of penis, Hypospadias, Iris co... |
ORPHA:818 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Opacification of the corneal stroma |
OMIM:313400 |
| Ablepharon Macrostomia Syndrome |
|
Corneal opacity, Hypoplasia of penis, Corneal erosion |
ORPHA:920 |
| Oculoectodermal Syndrome |
|
Limbal dermoid, Microcornea, Astigmatism, Bladder exstrophy, Opacification of the corneal stroma |
OMIM:600268 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity |
ORPHA:79396 |
| Microphthalmia, Syndromic 3 |
|
Hypospadias, Micropenis, Sclerocornea, Cataract |
OMIM:206900 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Nephroblastoma, Enlarged kidney, Renal cyst, Duplication of renal pelvis, Hypospadias, Hepatomega... |
OMIM:312870 |
| Encephalocraniocutaneous Lipomatosis |
|
Iris coloboma, Corneal opacity |
ORPHA:2396 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Sclerocornea |
OMIM:300952 |
| Norrie Disease |
|
Abnormal pupil morphology, Hypoplasia of the iris, Anterior chamber synechiae, Ectopia lentis, Ca... |
ORPHA:649 |
| Neurofibromatosis Type 1 |
|
Abnormality of the upper urinary tract, Cataract, Heterochromia iridis, Corneal opacity, Lisch no... |
ORPHA:636 |
| Fraser Syndrome 1 |
|
Renal hypoplasia/aplasia, Hypospadias, Corneal opacity, Renal hypoplasia, Micropenis |
OMIM:219000 |
| Gaucher Disease |
|
Hematuria, Corneal opacity, Hepatomegaly, Proteinuria, Splenomegaly |
ORPHA:355 |
| Limb Body Wall Complex |
|
Lens subluxation, Abnormality of the kidney, Iris coloboma, Corneal opacity |
ORPHA:2369 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Dermatan sulfate excretion in urine, Hepatosplenomegaly, Corneal opacity, Splenomegaly, Heparan s... |
ORPHA:217085 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Dermatan sulfate excretion in urine, Hepatosplenomegaly, Corneal opacity, Splenomegaly, Heparan s... |
ORPHA:217093 |
| Phace Syndrome |
|
Lens coloboma, Iris coloboma, Heterochromia iridis, Cataract, Sclerocornea |
ORPHA:42775 |
| Wolf-Hirschhorn Syndrome |
|
Megalocornea, Abnormality of the kidney, Hypospadias, Iris coloboma, Abnormality of the urinary s... |
ORPHA:280 |
| Larsen Syndrome |
|
Corneal opacity |
OMIM:150250 |
| Van Den Ende-Gupta Syndrome |
|
Sclerocornea, Dilatation of the renal pelvis |
OMIM:600920 |
| Hereditary Acrokeratotic Poikiloderma |
|
Keratoconjunctivitis, Abnormal preputium morphology, Abnormal renal tubule morphology, Opacificat... |
ORPHA:2907 |
| Mucopolysaccharidosis Type 2 |
|
Corneal opacity, Splenomegaly, Hepatomegaly |
ORPHA:580 |
| Cardiac-Urogenital Syndrome |
|
Enlarged kidney, Penoscrotal hypospadias, Patent urachus, Micropenis |
OMIM:618280 |
| Cockayne Syndrome B |
|
Splenomegaly, Hypoplasia of the iris, Opacification of the corneal stroma, Developmental cataract... |
OMIM:133540 |
| African Trypanosomiasis |
|
Aggressive behavior, Abnormality of circulating cortisol level, Apathy, Abnormality of the endocr... |
ORPHA:3385 |
| Osteogenesis Imperfecta |
|
Nephrolithiasis, Corneal opacity, Hypercalciuria |
ORPHA:666 |
| Fryns Syndrome |
|
Renal agenesis, Renal cyst, Hypospadias, Stillbirth, Opacification of the corneal stroma, Uretera... |
OMIM:229850 |
| Lathosterolosis |
|
Opacification of the corneal stroma, Cataract, Horseshoe kidney, Hepatosplenomegaly |
OMIM:607330 |
| Neurocardiofaciodigital Syndrome |
|
Vesicoureteral reflux, Cataract, Sclerocornea |
OMIM:619869 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly, Opacification of the corneal stroma |
ORPHA:79280 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Corneal opacity, Splenomegaly, Hepatosplenomegaly |
ORPHA:2072 |
| Bartsocas-Papas Syndrome 1 |
|
Pterygium, Axillary pterygium, Ectopic kidney, Popliteal pterygium, Opacification of the corneal ... |
OMIM:263650 |
| Roberts-Sc Phocomelia Syndrome |
|
Polycystic kidney dysplasia, Long penis, Hypospadias, Cataract, Horseshoe kidney, Corneal opacity... |
OMIM:268300 |
| Xeroderma Pigmentosum |
|
Aminoaciduria, Pterygium, Cataract, Conjunctival telangiectasia, Keratitis, Opacification of the ... |
ORPHA:910 |
| Wiedemann-Rautenstrauch Syndrome |
|
Dilatation of renal calices, Vesicoureteral reflux, Recurrent urinary tract infections, Hypospadi... |
ORPHA:3455 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Corneal opacity |
OMIM:608670 |
| Cockayne Syndrome A |
|
Splenomegaly, Opacification of the corneal stroma, Cataract, Hepatomegaly, Proteinuria, Renal ins... |
OMIM:216400 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Multicystic kidney dysplasia, Neonatal death, Renal dysplasia, Renal agenesis, Unilateral renal a... |
OMIM:308205 |
| Yunis-Varon Syndrome |
|
Hypospadias, Cataract, Renovascular hypertension, Renal artery stenosis, Cardiomegaly, Micropenis... |
ORPHA:3472 |
| Stuve-Wiedemann Syndrome 1 |
|
Opacification of the corneal stroma |
OMIM:601559 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Opacification of the corneal stroma, Multicystic kidney dysplasia, Micropenis, Hydronephrosis |
OMIM:615287 |
| Hutchinson-Gilford Progeria Syndrome |
|
Corneal ulceration, Corneal opacity |
ORPHA:740 |
| Digeorge Syndrome |
|
Posterior embryotoxon, Renal dysplasia, Unilateral renal agenesis, Renal insufficiency, Splenomeg... |
OMIM:188400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Buphthalmos, Cataract, Megalocornea, Opacification of the corneal stroma |
OMIM:253280 |
| Microphthalmia, Syndromic 6 |
|
Renal hypoplasia, Sclerocornea, Microcornea |
OMIM:607932 |
| Yunis-Varon Syndrome |
|
Hypospadias, Sclerocornea, Micropenis, Cataract |
OMIM:216340 |
