Major Affective Disorder 1 |
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Mania, Depression |
OMIM:125480 |
Major Depressive Disorder |
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Depression |
OMIM:608516 |
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7 |
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Attention deficit hyperactivity disorder, Depression |
OMIM:613003 |
Obsessive-Compulsive Disorder |
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Collectionism, Compulsive behaviors, Skin-picking, Depression |
OMIM:164230 |
Cataract 29 |
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Cataract |
OMIM:115800 |
Hereditary Hyperferritinemia-Cataract Syndrome |
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Cataract |
ORPHA:163 |
Cataract 36 |
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Cataract |
OMIM:613887 |
Cataract 35 |
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Cataract |
OMIM:609376 |
Hypertrophic Neuropathy And Cataract |
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Cataract |
OMIM:239900 |
Cataract And Congenital Ichthyosis |
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Cataract |
OMIM:212400 |
Galactosemia Iv |
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Cataract, Hypergalactosemia |
OMIM:618881 |
Corneal Dystrophy, Groenouw Type I |
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Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Pandas |
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Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Cataract 42 |
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Cataract, Developmental cataract |
OMIM:115900 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
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Splenomegaly, Cataract |
OMIM:619813 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
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Cataract |
ORPHA:1397 |
Cataract 12, Multiple Types |
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Progressive cataract, Developmental cataract |
OMIM:611597 |
Galactosemia Ii |
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Cataract, Hypergalactosemia |
OMIM:230200 |
Aldh18A1-Related De Barsy Syndrome |
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Cataract |
ORPHA:35664 |
Hypoalphalipoproteinemia, Primary, 2 |
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Decreased HDL cholesterol concentration, Corneal arcus, Cataract |
OMIM:618463 |
Trichomegaly |
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Cataract |
OMIM:190330 |
Nathalie Syndrome |
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Cataract |
ORPHA:2663 |
Cataract-Microcornea Syndrome |
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Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
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Cataract, Hyperbilirubinemia |
OMIM:618660 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
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Cataract, Developmental cataract |
OMIM:613076 |
Hyperferritinemia With Or Without Cataract |
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Increased circulating ferritin concentration, Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Cataract 9, Multiple Types |
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Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
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Cataract, Elevated circulating creatine kinase concentration |
OMIM:609115 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
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Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior |
ORPHA:208441 |
Megalocornea |
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Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Microphthalmia, Isolated, With Coloboma 3 |
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Cataract, Iris coloboma |
OMIM:610092 |
Chorea, Remitting, With Nystagmus And Cataract |
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Cataract |
OMIM:601372 |
Anterior Segment Dysgenesis 8 |
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Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Cataract 11, Multiple Types |
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Cataract, Developmental cataract |
OMIM:610623 |
Exfoliation Syndrome |
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Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Thanatophoric Dysplasia, Glasgow Variant |
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Cataract, Hepatosplenomegaly |
OMIM:273680 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
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Cataract |
OMIM:254000 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
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Microcornea, Cataract, Aniridia |
OMIM:106230 |
Cataract 10, Multiple Types |
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Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Genetic Hyperferritinemia Without Iron Overload |
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Cataract, Increased circulating ferritin concentration, Abnormal serum iron concentration, Elevat... |
ORPHA:254704 |
Iris Pigment Layer, Cleavage Of |
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Cataract |
OMIM:147610 |
Cataract 50 With Or Without Glaucoma |
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Cataract, Persistent pupillary membrane |
OMIM:620253 |
Cataract 47 |
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Microcornea, Cataract |
OMIM:612018 |
Cataract 1, Multiple Types |
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Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
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Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor... |
ORPHA:3077 |
Cardiomyopathy, Dilated, 1Ii |
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Cataract, Elevated circulating creatine kinase concentration |
OMIM:615184 |
Aniridia-Intellectual Disability Syndrome |
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Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Anterior Segment Dysgenesis 7 |
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Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Aniridia 2 |
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Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Cataract 3, Multiple Types |
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Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Cataract 14, Multiple Types |
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Zonular cataract |
OMIM:601885 |
Coats Disease |
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Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Ectopia Lentis Et Pupillae |
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Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Fish-Eye Disease |
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Splenomegaly, Decreased HDL cholesterol concentration, Corneal opacity, Lymphadenopathy |
ORPHA:79292 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
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Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Peters Anomaly |
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Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Cataract 5, Multiple Types |
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Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
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Microcornea, Cataract |
OMIM:619082 |
Proximal Myotonic Myopathy |
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Cataract |
ORPHA:606 |
Autosomal Dominant Keratitis |
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Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Cataract 20, Multiple Types |
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Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Anterior Segment Dysgenesis 2 |
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Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Peroxisome Biogenesis Disorder 11B |
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Cataract, Hepatosplenomegaly |
OMIM:614885 |
Amoebic Keratitis |
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Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Myopia 28, Autosomal Recessive |
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Cataract |
OMIM:619781 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development |
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Hypokalemia, Cataract, Hyperamylasemia, Band keratopathy |
OMIM:604278 |
Isolated Aniridia |
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Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Anterior Segment Dysgenesis 1 |
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Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Aniridia And Absent Patella |
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Aniridia, Cataract |
OMIM:106220 |
Aniridia 3 |
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Aniridia, Cataract |
OMIM:617142 |
Cataract 39, Multiple Types |
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Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Hypoparathyroidism, Familial Isolated, 1 |
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Hypocalcemia, Cataract, Hyperphosphatemia, Hypocalcemic seizures |
OMIM:146200 |
Cataract 30, Multiple Types |
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Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
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Generalized lymphadenopathy, Aplasia of the thymus, Splenomegaly, Lymph node hypoplasia, Absent t... |
OMIM:602450 |
Vitreoretinal Degeneration, Snowflake Type |
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Cataract, Corneal guttata |
OMIM:193230 |
Cataract 31, Multiple Types |
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Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
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Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Porphyria Due To Ala Dehydratase Deficiency |
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Abnormal fear-induced behavior, Agitation, Restlessness, Depression |
ORPHA:100924 |
Cataract 33, Multiple Types |
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Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Cataract 15, Multiple Types |
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Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
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Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... |
ORPHA:247598 |
Purine Nucleoside Phosphorylase Deficiency |
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Hypouricemia, Increased circulating guanosine concentration, Splenomegaly, Lymph node hypoplasia,... |
OMIM:613179 |
Gm2 Gangliosidosis, Ab Variant |
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Abnormal fear-induced behavior, Inappropriate behavior |
ORPHA:309246 |
Coloboma, Ocular, Autosomal Recessive |
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Iris coloboma, Cataract, Lens subluxation |
OMIM:216820 |
Norrie Disease |
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Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
Meige Disease |
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Lymph node hypoplasia, Absence of lymph node germinal center |
ORPHA:90186 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Lymph node hypoplasia, Absent tonsils |
ORPHA:276 |
Aniridia 1 |
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Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Persistent Hyperplastic Primary Vitreous |
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Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Agammaglobulinemia, X-Linked |
|
Lymph node hypoplasia, Conjunctivitis |
OMIM:300755 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353281 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Self-injurious b... |
ORPHA:353277 |