Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Corneal Dystrophy, Groenouw Type I |
|
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy |
OMIM:121900 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Galactosemia Ii |
|
Cataract, Hypergalactosemia |
OMIM:230200 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract, Increased circulating ferritin concentration |
ORPHA:254704 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Galactosemia Iv |
|
Cataract, Hypergalactosemia |
OMIM:618881 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Hypervalinemia, Hyperisoleucinemia, Hyperleucinemia, Polyphagia, Increased blood urea nitrogen, H... |
OMIM:620085 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Decreased HDL cholesterol concentration, Cataract |
OMIM:618463 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract, Hyperbilirubinemia |
OMIM:618660 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Cataract-Microcornea Syndrome |
|
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma |
ORPHA:1377 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract |
OMIM:274205 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Morm Syndrome |
|
Cataract, Hyperactivity, Aggressive behavior |
ORPHA:75858 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Microphthalmia/Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Smith-Magenis syndrome |
|
Hyperactivity, Self-mutilation, Motor stereotypy |
DECIPHER:8 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Microcornea, Aniridia |
OMIM:106230 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Cataract 9, Multiple Types |
|
Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma |
OMIM:604219 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... |
OMIM:617319 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
OMIM:309548 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Cataract, Hyperactivity |
ORPHA:85288 |
Fraxe Intellectual Disability |
|
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... |
ORPHA:100973 |
Hyperferritinemia With Or Without Cataract |
|
Decreased transferrin saturation, Abnormal transferrin saturation, Anterior subcapsular cataract,... |
OMIM:600886 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Motor stereotypy |
OMIM:300271 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract |
OMIM:165300 |
Cataract 10, Multiple Types |
|
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract |
OMIM:600881 |
Phenylketonuria |
|
Hyperactivity, Hyperphenylalaninemia, Compulsive behaviors, Attention deficit hyperactivity disor... |
OMIM:261600 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Exfoliation Syndrome |
|
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... |
OMIM:177650 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Megalocornea |
|
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... |
OMIM:309300 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Astigmatism, Hyperactivity, Compulsive behaviors, Motor tics, Attention deficit hyperactivity dis... |
OMIM:619927 |
Cataract 1, Multiple Types |
|
Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract |
OMIM:116200 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Cataract, Elevated circulating creatine kinase concentration |
OMIM:609115 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Ectopia lentis, Aniridia |
ORPHA:1068 |
Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Hyperactivity, Self-injurious behavior, Aggressive behavior |
OMIM:619031 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:617872 |
Aniridia 2 |
|
Cataract, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Hyperprolinemia, Type I |
|
Hyperactivity, Hyperprolinemia, Motor stereotypy, Aggressive behavior |
OMIM:239500 |
Leber Congenital Amaurosis 7 |
|
Cataract, Keratoconus |
OMIM:613829 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:301008 |
Cataract 3, Multiple Types |
|
Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract |
OMIM:601547 |
Glycine Encephalopathy 1 |
|
Hyperactivity, Impulsivity, Restlessness, Hyperglycinemia, Aggressive behavior |
OMIM:605899 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea |
OMIM:619082 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
Cataract 17, Multiple Types |
|
Nuclear cataract, Developmental cataract, Pulverulent cataract, Microcornea |
OMIM:611544 |
Coats Disease |
|
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris |
ORPHA:190 |
Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... |
OMIM:225200 |
Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... |
OMIM:269400 |
Retinitis Pigmentosa 40 |
|
Cataract |
OMIM:613801 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Interstitial Nephritis, Karyomegalic |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:614817 |
Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... |
ORPHA:708 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus |
OMIM:613826 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Myopic astigmatism, Hyperactivity, Impulsivity, Frequent temper tantrums, Developmental cataract,... |
OMIM:620141 |
Cataract 5, Multiple Types |
|
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116800 |
Cataract 2, Multiple Types |
|
Aculeiform cataract, Nuclear pulverulent cataract, Microcornea, Developmental cataract, Nuclear c... |
OMIM:604307 |
Galactose Mutarotase Deficiency |
|
Cataract, Hypergalactosemia |
ORPHA:570422 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract |
ORPHA:2278 |
Cardiomyopathy, Dilated, 1Ii |
|
Cataract, Elevated circulating creatine kinase concentration |
OMIM:615184 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Attention deficit hyperactivity disorder, Impulsivity |
OMIM:617113 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Leber Congenital Amaurosis 1 |
|
Cataract, Keratoconus, Hyperthreoninemia, Eye poking |
OMIM:204000 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma |
OMIM:120433 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
Isolated Aniridia |
|
Cataract, Peters anomaly, Aniridia |
ORPHA:250923 |
Intellectual Developmental Disorder, Autosomal Recessive 38 |
|
Hyperactivity, Recurrent hand flapping, Blue irides, Self-mutilation, Aggressive behavior |
OMIM:615516 |
Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
Aniridia 3 |
|
Cataract, Aniridia |
OMIM:617142 |
Autosomal Dominant Keratitis |
|
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... |
ORPHA:2334 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... |
ORPHA:67043 |
Anterior Segment Dysgenesis 2 |
|
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... |
OMIM:610256 |
Leber Congenital Amaurosis 2 |
|
Cataract, Keratoconus, Eye poking |
OMIM:204100 |
Cataract 48 |
|
Cataract |
OMIM:618415 |
Anterior Segment Dysgenesis 1 |
|
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... |
OMIM:107250 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Developmental cataract, Anterior polar cataract |
OMIM:615188 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
Congenital Varicella Syndrome |
|
Cataract |
ORPHA:291 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Cataract 23, Multiple Types |
|
Lamellar cataract, Microcornea, Nuclear cataract |
OMIM:610425 |
Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Recurrent corneal erosions, Elevated circulating creatinine concentration, Increased blood urea n... |
OMIM:223900 |
Drug-Induced Lupus Erythematosus |
|
Increased blood urea nitrogen, Elevated circulating creatine kinase concentration, Elevated circu... |
ORPHA:231111 |
Retinitis Pigmentosa 9 |
|
Cataract |
OMIM:180104 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract |
OMIM:183800 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Increased blood urea nitrogen, Hyponatremia, Hypomagnesemia, Hyperuricemia |
OMIM:613845 |
Hyperlysinemia, Type I |
|
Hyperactivity, Ectopia lentis, Hyperlysinemia, Hypoornithinemia |
OMIM:238700 |
Leber Congenital Amaurosis 8 |
|
Cataract, Keratoconus, Eye poking |
OMIM:613835 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Posterior embryotoxon, Corneal opacity, Iris coloboma |
ORPHA:1473 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612924 |
Cataract 31, Multiple Types |
|
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Edict Syndrome |
|
Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris |
OMIM:614303 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612926 |
Cataract 30, Multiple Types |
|
Pulverulent cataract, Diffuse nuclear cataract, Posterior polar cataract |
OMIM:116300 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract |
OMIM:116100 |
Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Inappropriate behavior, Nail-biting, Hyperactivity, Attention deficit hyperactivity disorder, Sel... |
OMIM:619827 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Cataract, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemia |
OMIM:146200 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:612925 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
|
Cataract, Band keratopathy, Hyperamylasemia, Hypokalemia |
OMIM:604278 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Compulsive behaviors, Impulsivity, Abnormal eating behavior, Aggressive behavior |
ORPHA:101039 |
Classic Phenylketonuria |
|
Cataract, Self-injurious behavior, Attention deficit hyperactivity disorder, Hyperphenylalaninemia |
ORPHA:79254 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Cortical cataract, Nuclear cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Cortical cataract, Nuclear cataract |
OMIM:611391 |
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
Cataract |
OMIM:620425 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
Cataract 24 |
|
Anterior lenticonus, Anterior polar cataract |
OMIM:601202 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Increased blood urea nitrogen, Hypercalcemia, Polyphagia |
ORPHA:251004 |
Uremic Pruritus |
|
Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia |
ORPHA:94059 |
Norrie Disease |
|
Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Leukocoria, Catar... |
OMIM:310600 |
Orthostatic Hypotension 1 |
|
Increased blood urea nitrogen, Hypomagnesemia, Elevated circulating dihydroxyphenylacetic acid co... |
OMIM:223360 |
Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
Retinitis Pigmentosa 84 |
|
Cataract |
OMIM:618220 |
Cockayne Syndrome Type 1 |
|
Cataract, Increased blood urea nitrogen, Conjunctivitis |
ORPHA:90321 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Lens subluxation, Cataract |
ORPHA:171844 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Increased blood urea nitrogen |
ORPHA:94088 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration, Hyperlipidemia |
OMIM:235400 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Ectopia pupillae |
ORPHA:1885 |
Gyrate Atrophy Of Choroid And Retina |
|
Cataract, Hyperornithinemia, Subcapsular cataract |
ORPHA:414 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Lens subluxation, Iris coloboma |
OMIM:216820 |
Cataract 16, Multiple Types |
|
Lenticonus, Developmental cataract, Posterior polar cataract |
OMIM:613763 |
46,Xy Sex Reversal 4 |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:154230 |
Transketolase Deficiency |
|
Elevated circulating ribitol concentration, Compulsive behaviors, Attention deficit hyperactivity... |
ORPHA:488618 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
OMIM:274150 |
Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Aniridia-Absent Patella Syndrome |
|
Cataract, Aniridia |
ORPHA:1069 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Abnormal circulating lipid concentration, Hypertriglyceridemia, Decreased HDL cholesterol concent... |
ORPHA:247598 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Recurrent corneal erosions, Corneal ulceration, Hyperactivity, Corneal scarring, Keratitis, Opaci... |
OMIM:256800 |
Dopamine Beta-Hydroxylase Deficiency |
|
Increased blood urea nitrogen, Elevated circulating creatinine concentration |
ORPHA:230 |
Morning Glory Disc Anomaly |
|
Cataract |
ORPHA:35737 |
Igg4-Related Retroperitoneal Fibrosis |
|
Anorexia, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Elevated ... |
ORPHA:49041 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Buphthalmos, Corneal scarring, Iris coloboma |
OMIM:212550 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Hypokalemia, Hypomagnesemia, Self-biting |
OMIM:618314 |
Familial Isolated Hypoparathyroidism |
|
Cataract, Hypocalcemia |
ORPHA:2238 |
Citrullinemia Type Ii |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated plasma citrulline, Hyperc... |
ORPHA:247585 |
Wagro Syndrome |
|
Agitation, Aniridia, Corneal opacity, Compulsive behaviors, Polyphagia, Cataract, Aggressive beha... |
OMIM:612469 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Leukocoria... |
OMIM:221900 |
Aniridia 1 |
|
Corneal neovascularization, Aniridia, Corneal erosion, Hypoplasia of the iris, Anterior subcapsul... |
OMIM:106210 |
Ifap Syndrome 2 |
|
Cataract, Keratitis, Keratoconjunctivitis sicca |
OMIM:619016 |
Alport Syndrome 2, Autosomal Recessive |
|
Cataract, Anterior lenticonus, Corneal erosion |
OMIM:203780 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Heterochromia iridis, Anisocoria, Corneal kera... |
ORPHA:263479 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Reduced haptoglobin level, Conjunctival icterus, Unconjugated hyperbilirubinemia, Increased blood... |
ORPHA:447 |
Persistent Hyperplastic Primary Vitreous |
|
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Developmen... |
ORPHA:91495 |
Alport Syndrome 3A, Autosomal Dominant |
|
Lenticonus, Azotemia, Hypophosphatemia, Anterior polar cataract |
OMIM:104200 |
Oculoauricular Syndrome |
|
Microphakia, Ocular anterior segment dysgenesis, Iris cyst, Microcornea, Posterior embryotoxon, D... |
OMIM:612109 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Transient hyperphenylalaninemia, Hyperactivity, Hyperphenylalaninemia, Abnormal circulating neopt... |
OMIM:612716 |
Goodpasture Syndrome |
|
Increased blood urea nitrogen |
OMIM:233450 |