Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
Trichomegaly |
|
Long eyelashes, Cataract |
OMIM:190330 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 18 |
|
Cataract |
OMIM:610019 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 39, Multiple Types |
|
Developmental cataract |
OMIM:615188 |
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 |
Corneal Dystrophy, Band-Shaped |
|
Band-shaped corneal dystrophy |
OMIM:217500 |
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy |
|
Punctate corneal dystrophy |
OMIM:183850 |
Megalocornea |
|
Megalocornea |
OMIM:249300 |
Corneal Degeneration, Band-Shaped Spheroid |
|
Corneal degeneration |
OMIM:217520 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy |
OMIM:615523 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Corneal Dystrophy, Subepithelial Mucinous |
|
Corneal dystrophy |
OMIM:612867 |
Facial Paresis, Hereditary Congenital, 1 |
|
Decreased corneal reflex |
OMIM:601471 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
Aniridia 3 |
|
Cataract |
OMIM:617142 |
Uncombable Hair Syndrome 2 |
|
Juvenile cataract, Pili canaliculi, Uncombable hair |
OMIM:617251 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Chorioretinal coloboma, Cataract |
OMIM:274205 |
Corneal Dystrophy, Epithelial Basement Membrane |
|
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy |
OMIM:121820 |
Ring Dermoid Of Cornea |
|
Abnormality of the corneal limbus, Corneal astigmatism, Conjunctival dermolipoma, Abnormal conjun... |
OMIM:180550 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Persistent pupillary membrane, Ptosis, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity,... |
ORPHA:1067 |
Corneal Hypesthesia, Familial |
|
Recurrent corneal erosions, Decreased corneal sensation |
OMIM:122450 |
Cataract-Microcornea Syndrome |
|
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea |
ORPHA:1377 |
Cataract 12, Multiple Types |
|
Developmental cataract, Progressive cataract |
OMIM:611597 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
Woolly Hair |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Abnormal pupil morp... |
ORPHA:170 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Central Cloudy Dystrophy Of Francois |
|
Corneal dystrophy, Central corneal dystrophy |
OMIM:217600 |
Cornea Plana 1, Autosomal Dominant |
|
Flat cornea |
OMIM:121400 |
Corneal Dystrophy, Lattice Type I |
|
Recurrent corneal erosions, Lattice corneal dystrophy |
OMIM:122200 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Peroxisome Biogenesis Disorder 10A (Zellweger) |
|
Downslanted palpebral fissures, Epicanthus, Cataract |
OMIM:614882 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Developmental cataract, Corneal dystrophy |
OMIM:271320 |
Foveal Hypoplasia 1 |
|
Presenile cataracts |
OMIM:136520 |
Megalocornea |
|
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... |
OMIM:309300 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Corneal opacity |
ORPHA:1980 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Developmental cataract, Cataract |
OMIM:613076 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Loose Anagen Syndrome |
|
Iris coloboma, Abnormal hair morphology, Abnormal hair whorl |
ORPHA:168 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microcornea, Orbital cyst |
OMIM:251505 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Cataract 9, Multiple Types |
|
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea |
OMIM:604219 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Fava bean-induced hemolytic anemia, Cataract |
OMIM:618660 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Corneal Degeneration, Ribbonlike, With Deafness |
|
Band keratopathy, Ribbonlike corneal degeneration |
OMIM:121450 |
Waardenburg Syndrome, Type 2D |
|
Heterochromia iridis, Telecanthus |
OMIM:608890 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Aniridia, Microcornea, Cataract |
OMIM:106230 |
Macular Dystrophy, Corneal |
|
Punctate opacification of the cornea, Recurrent corneal erosions, Corneal dystrophy |
OMIM:217800 |
Monilethrix |
|
Fine hair, Brittle hair, Abnormal eyebrow morphology, Cataract, Slow-growing hair, Patchy alopeci... |
ORPHA:573 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Hirsutism, Cataract, Epicanthus |
ORPHA:85288 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Anterior Segment Dysgenesis 3 |
|
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... |
OMIM:601631 |
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract |
OMIM:610156 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Thrombocytopenia 4 |
|
Thrombocytopenia |
OMIM:612004 |
Dysequilibrium Syndrome |
|
Cataract |
ORPHA:1766 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Upslanted palpebral fissure, Microcornea, Epicanthus, Cataract |
ORPHA:2528 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Hepatosplenomegaly, Anemia, Cataract |
OMIM:273680 |
Thrombocytopenia 2 |
|
Leukocytosis, Thrombocytopenia |
OMIM:188000 |
Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Cataract |
OMIM:615412 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract |
OMIM:165300 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts |
|
Cataract |
OMIM:225740 |
3-Methylglutaconic Aciduria Type 4 |
|
Thrombocytopenia, Iris hypopigmentation, Cataract |
ORPHA:67048 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal degeneration, Corneal guttata, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
Cataract 21, Multiple Types |
|
Microcornea, Cerulean cataract, Cortical pulverulent cataract, Iris coloboma |
OMIM:610202 |
Amoebic Keratitis |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Anterior uveitis, Iris a... |
ORPHA:67043 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Epicanthus, Cataract, Ptosis |
ORPHA:1373 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
White forelock, Microcornea, Chorioretinal coloboma, Iris coloboma |
OMIM:601706 |
Exfoliation Syndrome |
|
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... |
OMIM:177650 |
Upper Limb Defect-Eye And Ear Abnormalities Syndrome |
|
Chorioretinal coloboma, Cataract, Epicanthus |
ORPHA:2489 |
Phosphoglycerate Dehydrogenase Deficiency |
|
Thrombocytopenia, Developmental cataract, Megaloblastic anemia |
OMIM:601815 |
Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Chorioretinal coloboma, Posterior embryotoxon, Ptosis, Iris coloboma, Corneal opacity, Cataract |
ORPHA:1473 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Thrombocytopenia, Cyclic |
|
Thrombocytopenia, Neutropenia, Cyclic neutropenia |
OMIM:188020 |
Spastic Paraparesis-Deafness Syndrome |
|
Cataract |
ORPHA:2815 |
Thrombocytopenia 7 |
|
Reduced platelet dense granules, Impaired ristocetin-induced platelet aggregation, Impaired colla... |
OMIM:619130 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Thrombocytopenia |
OMIM:124900 |
Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Ectopia lentis, Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea |
OMIM:251750 |
Congenital Disorder Of Glycosylation, Type Ii |
|
Cataract |
OMIM:607906 |
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus |
|
Telecanthus, Microcornea, Posterior subcapsular cataract, Chorioretinal degeneration |
OMIM:615458 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Decreased corneal sensation, Corneal stromal edema, Corneal scar... |
ORPHA:98964 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Cataract, Ptosis |
OMIM:120433 |
Cataract 1, Multiple Types |
|
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... |
OMIM:116200 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Narrow palpebral fissure, Cataract |
OMIM:608763 |
Bilateral Acute Depigmentation Of The Iris |
|
Hypoplastic iris stroma, Abnormal corneal endothelium morphology, Iris pigment dispersion, Pigmen... |
ORPHA:69736 |
Corneal Dystrophy, Reis-Bucklers Type |
|
Corneal erosion, Corneal dystrophy, Corneal opacity, Palpebral edema, Opacification of the cornea... |
OMIM:608470 |
Coats Disease |
|
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology |
ORPHA:190 |
Edict Syndrome |
|
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus |
OMIM:614303 |
2Q24 Microdeletion Syndrome |
|
Downslanted palpebral fissures, Cataract, Abnormality iris morphology |
ORPHA:1617 |
Hermansky-Pudlak Syndrome 9 |
|
Thrombocytopenia, Leukopenia, Ocular albinism |
OMIM:614171 |
Cataract 11, Multiple Types |
|
Cataract |
OMIM:610623 |
Spinocerebellar Degeneration And Corneal Dystrophy |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:271310 |
Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... |
OMIM:122000 |
Leber Congenital Amaurosis 8 |
|
Choriocapillaris atrophy, Cataract, Keratoconus |
OMIM:613835 |
Aniridia 2 |
|
Aniridia, Cataract |
OMIM:617141 |
Amegakaryocytic Thrombocytopenia, Congenital |
|
Pancytopenia, Thrombocytopenia, Amegakaryocytic thrombocytopenia |
OMIM:604498 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Chorioretinal coloboma, Iris coloboma |
OMIM:616428 |
Ectopia Lentis Et Pupillae |
|
Persistent pupillary membrane, Cataract, Ectopia lentis |
OMIM:225200 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Phakodonesis, Ectopia lentis |
OMIM:613195 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Waardenburg Syndrome, Type 4B |
|
Blue irides, White eyelashes, White forelock, Heterochromia iridis, White eyebrow, Premature gray... |
OMIM:613265 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
Generalized Eruptive Keratoacanthoma |
|
Keratoconjunctivitis sicca, Abnormal cornea morphology, Ectropion, Conjunctivitis |
ORPHA:411777 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal platelet function, Anemia, Abnormal hemoglobin, Splenomegaly, Thrombocytopenia |
ORPHA:231393 |
Fechtner syndrome |
|
Developmental cataract, Neutrophil inclusion bodies, Leukocyte inclusion bodies, Giant platelets,... |
OMIM:153640 |
Sea-Blue Histiocyte Disease |
|
Thrombocytopenia, Absent axillary hair, Sea-blue histiocytosis, Splenomegaly |
OMIM:269600 |
Sengers Syndrome |
|
Thrombocytopenia, Developmental cataract |
OMIM:212350 |
Iridocorneal Endothelial Syndrome |
|
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... |
ORPHA:64734 |
Heterochromia Iridis |
|
Heterochromia iridis, Asymmetry of iris pigmentation |
OMIM:142500 |
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Highly arched eyebrow, Cataract, Ptosis |
OMIM:616154 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cataract, Ptosis |
ORPHA:1875 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Corneal Dystrophy, Posterior Amorphous |
|
Corneal dystrophy, Ectopia pupillae, Iris coloboma |
OMIM:612868 |
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome |
|
Cataract |
OMIM:212540 |
Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal degeneration, Corneal guttata, Corneal dystrophy |
OMIM:610158 |
Corneal Dystrophy, Fuchs Endothelial, 6 |
|
Corneal guttata, Corneal stromal edema, Corneal dystrophy, Keratitis, Abnormal Descemet membrane ... |
OMIM:613270 |
Peters Anomaly |
|
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... |
ORPHA:708 |
Exudative Vitreoretinopathy 6 |
|
Cataract, Chorioretinal atrophy |
OMIM:616468 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis |
OMIM:269400 |
Intellectual Disability-Cataracts-Kyphosis Syndrome |
|
Cataract, Iris coloboma |
ORPHA:171860 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract |
ORPHA:401830 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Pancytopenia And Occlusive Vascular Disease |
|
Pancytopenia, Thrombocytopenia, Anemia, Leukopenia |
OMIM:167850 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Autosomal Dominant Keratitis |
|
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... |
ORPHA:2334 |
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related |
|
Macrothrombocytopenia |
OMIM:613112 |
Congenital Corneal Opacities, Cornea Guttata, And Corectopia |
|
Corneal opacity, Ectopia pupillae |
OMIM:608484 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Cataract |
OMIM:609115 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Sparse eyelashes, Nail dystrophy, Alopecia, Scarring alopecia of scalp, Keratitis, Cataract, Spar... |
OMIM:612843 |
Atopic Keratoconjunctivitis |
|
Keratoconjunctivitis sicca, Keratitis, Abnormal eyelid morphology, Chemosis, Corneal opacity, Los... |
ORPHA:163934 |
Retinitis Pigmentosa 84 |
|
Cataract |
OMIM:618220 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Chorioretinal coloboma, Cataract, Iris coloboma |
OMIM:212550 |
Bleeding Disorder, Platelet-Type, 16 |
|
Anemia, Giant platelets, Thrombocytopenia, Macrothrombocytopenia, Platelet anisocytosis, Impaired... |
OMIM:187800 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract |
ORPHA:2278 |
Stickler Syndrome Type 2 |
|
Corneal opacity, Cataract |
ORPHA:90654 |
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Lacrimal duct atresia, Iris coloboma |
ORPHA:139450 |
Corneal Dystrophy, Meesmann, 1 |
|
Punctate opacification of the cornea, Corneal dystrophy |
OMIM:122100 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Cataract 15, Multiple Types |
|
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract |
OMIM:615274 |
Limbal Stem Cell Deficiency |
|
Conjunctival hyperemia, Corneal perforation, Corneal scarring, Opacification of the corneal epith... |
ORPHA:171673 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Developmental cataract, Pulverulent cataract |
OMIM:611544 |
Herpes Simplex Virus Stromal Keratitis |
|
Corneal perforation, Decreased corneal sensation, Descemet Membrane Folds, Corneal stromal edema,... |
ORPHA:137599 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Brittle hair, Curly hair, Pili torti, Corneal opacity, Sparse and thin eyebrow, Sparse hair, Blep... |
OMIM:602400 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Neutropenia, Anemia, Splenomegaly, Thrombocytopenia, Hemophagocytosis, Conjunctivitis |
OMIM:603552 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
3-Methylglutaconic Aciduria, Type Vii |
|
Neutropenia, Cataract |
OMIM:616271 |
Deafness, Autosomal Recessive 108 |
|
Iris coloboma |
OMIM:617654 |
Cataract 41 |
|
Nuclear cataract, Developmental cataract |
OMIM:116400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type |
|
Cataract |
OMIM:300261 |
Vernal Keratoconjunctivitis |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal neovascularization, Punctate... |
ORPHA:70476 |
Corneal Dystrophy, Fuchs Endothelial, 4 |
|
Corneal guttata, Corneal dystrophy |
OMIM:613268 |
Anterior Segment Dysgenesis 2 |
|
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... |
OMIM:610256 |
Clouston Syndrome |
|
Fine hair, Sparse eyelashes, Absent pubic hair, Brittle hair, Nail dystrophy, Alopecia, Alopecia ... |
OMIM:129500 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract, Ptosis |
ORPHA:1069 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Retinitis Pigmentosa 2 |
|
Cataract, Chorioretinal degeneration |
OMIM:312600 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract |
OMIM:600881 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome |
|
Iris hypopigmentation |
ORPHA:85332 |
Immunodeficiency 46 |
|
Anemia, Neutropenia, Intermittent thrombocytopenia, Conjunctivitis |
OMIM:616740 |
Ifap Syndrome 2 |
|
Keratoconjunctivitis sicca, Nail dystrophy, Atrichia, Keratitis, Posterior blepharitis, Cataract,... |
OMIM:619016 |
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation |
|
Band keratopathy, Cataract |
OMIM:604278 |
Posterior Polymorphous Corneal Dystrophy |
|
Corneal stromal edema, Reduced number of corneal endothelial cells, Increased corneal curvature, ... |
ORPHA:98973 |
Vogt-Koyanagi-Harada Disease |
|
Poliosis, Abnormal eyebrow morphology, Cataract, Sparse scalp hair, Abnormal eyelash morphology, ... |
ORPHA:3437 |
Congenital Rubella Syndrome |
|
Anemia, Aplasia/Hypoplasia of the iris, Splenomegaly, Corneal opacity, Cataract, Thrombocytopenia |
ORPHA:290 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract |
OMIM:204100 |
X-Linked Endothelial Corneal Dystrophy |
|
Nuclear cataract, Corneal opacity, Abnormal corneal endothelium morphology, Band keratopathy |
ORPHA:293621 |
Frontofacionasal Dysplasia |
|
Limbal dermoid, Upper eyelid coloboma, Ptosis, Brushfield spots, Telecanthus, Iris coloboma, Abse... |
ORPHA:1791 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired epinephrine-induced platelet aggregation, Increased mean platelet volume, Impaired arach... |
OMIM:619271 |
Oculocerebral Hypopigmentation Syndrome Of Preus |
|
Cataract, Hypochromic anemia |
OMIM:257790 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Thrombocytopenia, Anemia, Abnormal hemoglobin |
ORPHA:3319 |
Eosinophilia, Familial |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
OMIM:131400 |
Congenital Varicella Syndrome |
|
Cataract |
ORPHA:291 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Neutropenia, Leukopenia, Anemia, Splenomegaly, Extramedullary hematopoiesis, Thrombocytopenia |
OMIM:615285 |
Wagner Vitreoretinopathy |
|
Cataract, Chorioretinal atrophy |
OMIM:143200 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
Macular Corneal Dystrophy |
|
Decreased corneal thickness, Decreased corneal sensation, Hyperopic astigmatism, Corneal crystals... |
ORPHA:98969 |
Ophthalmoplegia, Familial Static |
|
Anisocoria, Ptosis |
OMIM:165000 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Iris coloboma, Palpebral edema, Ptosis, Ectopia lentis |
ORPHA:1259 |
Hypomelanosis Of Ito |
|
Alopecia, Epicanthus, Cataract, Iris coloboma |
OMIM:300337 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Downslanted palpebral fissures, Cataract |
ORPHA:3433 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract |
ORPHA:2310 |
Mevalonic Aciduria |
|
Downslanted palpebral fissures, Cataract, Splenomegaly |
ORPHA:29 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Sclerocornea, Long eyelashes, Epicanthus, Cataract, Microcornea, Ectopia pupillae |
OMIM:615877 |
Myh9-Related Disease |
|
Presenile cataracts, Neutrophil inclusion bodies, Increased mean platelet volume, Giant platelets... |
ORPHA:182050 |
Corneal Endothelial Dystrophy |
|
Opacification of the corneal stroma, Increased corneal thickness, Abnormal Descemet membrane morp... |
OMIM:217700 |
Morm Syndrome |
|
Cataract |
ORPHA:75858 |
Erythroleukemia, Familial, Susceptibility To |
|
Erythroid hyperplasia, Leukemia, Anemia, Splenomegaly, Acute myeloid leukemia, Thrombocytopenia |
OMIM:133180 |
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Bilateral ptosis, Cataract |
ORPHA:329314 |
Xeroderma Pigmentosum, Complementation Group G |
|
Cataract |
OMIM:278780 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Cataract |
OMIM:614876 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Retinitis Pigmentosa 4 |
|
Cataract |
OMIM:613731 |
Griscelli Syndrome |
|
Silver-gray hair, Leukopenia, White hair, Abnormal eyebrow morphology, Splenomegaly, Iris hypopig... |
ORPHA:381 |
Epithelial Recurrent Erosion Dystrophy |
|
Keratoconjunctivitis sicca, Subepithelial corneal opacities, Corneal scarring, Recurrent corneal ... |
ORPHA:293381 |
Anterior Segment Dysgenesis 5 |
|
Developmental cataract, Posterior embryotoxon, Hypoplasia of the iris, Sclerocornea, Rieger anoma... |
OMIM:604229 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract |
OMIM:183800 |
Galactose Epimerase Deficiency |
|
Cataract, Splenomegaly |
ORPHA:79238 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Corneal Dystrophy, Thiel-Behnke Type |
|
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy |
OMIM:602082 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Developmental cataract, Sparse hair, Cataract |
OMIM:610756 |
Cornea Plana 2, Autosomal Recessive |
|
Decreased corneal thickness, Corneal arcus, Flat cornea |
OMIM:217300 |
Intellectual Developmental Disorder And Retinitis Pigmentosa |
|
Cataract |
OMIM:618195 |
Platelet Signal Processing Defect |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platele... |
OMIM:173590 |
Alg2-Cdg |
|
Downslanted palpebral fissures, Epicanthus, Cataract, Iris coloboma |
ORPHA:79326 |
Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Upslanted palpebral fissure, Cataract |
OMIM:609313 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Dystrophic fingernails, Ectropion, Scarring alopecia of scalp, Corneal dystroph... |
OMIM:308800 |
Dwarfism, Mental Retardation, And Eye Abnormality |
|
Nuclear cataract, Abnormality of the orbital region, Hypoplasia of the iris |
OMIM:223540 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microcornea, Cataract |
OMIM:616171 |
Gyrate Atrophy Of Choroid And Retina |
|
Abnormal hair morphology, Chorioretinal degeneration, Subcapsular cataract, Cataract, Chorioretin... |
ORPHA:414 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... |
OMIM:617315 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Corneal guttata, Corneal dystrophy |
OMIM:609141 |
Leber Congenital Amaurosis 16 |
|
Cataract |
OMIM:614186 |
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
|
Fine hair, Opacification of the corneal stroma, Sparse eyelashes, Hypoplastic nipples, Downslante... |
OMIM:211370 |
Trichothiodystrophy 3, Photosensitive |
|
Tiger tail banding, Brittle hair, Cataract |
OMIM:616395 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... |
OMIM:107250 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Conjunctival hyperemia, Hamartoma of the orbital region, Sparse eyebrow, Telecanthus, Lacrimal pu... |
ORPHA:2399 |
Wagr Syndrome |
|
Cataract, Aplasia/Hypoplasia of the iris, Ptosis |
ORPHA:893 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Alopecia totalis, Cataract |
ORPHA:1366 |
Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Cataract 3, Multiple Types |
|
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract |
OMIM:601547 |
Immunodeficiency 10 |
|
Thrombocytopenia, Hypoplasia of the iris, Autoimmune hemolytic anemia |
OMIM:612783 |
Macrothrombocytopenia and progressive sensorineural deafness |
|
Thrombocytopenia, Macrothrombocytopenia, Giant platelets |
OMIM:600208 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Ptosis, Anemia, Splenomegaly, Hypersplenism, Thrombocytopenia |
OMIM:610539 |
Retinitis Pigmentosa 37 |
|
Cataract |
OMIM:611131 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Downslanted palpebral fissures, Neutropenia, Cataract |
ORPHA:2643 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Increased mean platelet volume, Platelet anisocytosis |
OMIM:615193 |
Cataract, Aberrant Oral Frenula, And Growth Retardation |
|
Posterior polar cataract, Ptosis, Upslanted palpebral fissure, Epicanthus, Short palpebral fissur... |
OMIM:115645 |
Microphthalmia, Isolated 3 |
|
Sclerocornea, Ankyloblepharon |
OMIM:611038 |
Flynn-Aird Syndrome |
|
Alopecia, Alopecia of scalp, Cataract |
OMIM:136300 |
Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Corneal crystals, Centra... |
ORPHA:98962 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Corneal stromal edema, Corneal opacity, Increased corneal thickness, Abnormal Descemet membrane m... |
ORPHA:293603 |
Granular Corneal Dystrophy Type Ii |
|
Opacification of the corneal stroma, Subepithelial corneal opacities, Granular corneal dystrophy,... |
ORPHA:98963 |
Baralle-Macken Syndrome |
|
Upslanted palpebral fissure, Hirsutism, Cataract |
OMIM:619255 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Iris Hypoplasia With Glaucoma |
|
Iris atrophy, Hypoplasia of the iris |
OMIM:308500 |
Usher Syndrome Type 3 |
|
Astigmatism, Iris hypopigmentation, Cataract |
ORPHA:231183 |
Congenital Cataracts, Hearing Loss, And Neurodegeneration |
|
Developmental cataract, Cataract |
OMIM:614482 |
Warburg Micro Syndrome 3 |
|
Developmental cataract, Shallow anterior chamber, Hypertrichosis, Low anterior hairline, Cataract... |
OMIM:614222 |
Acquired Idiopathic Sideroblastic Anemia |
|
Leukocytosis, Thrombocytosis, Neutropenia, Normocytic anemia, Megaloblastic erythroid hyperplasia... |
ORPHA:75564 |
Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Neutropenia, Abnormal reticulocyte morphology, Abnormal platelet morphology, A... |
OMIM:300835 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Anemia, Thrombocytopenia |
ORPHA:517 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Ptosis, Epicanthus, Downslanted palpebral fissures, Cataract, Microcornea, Sparse hair |
OMIM:616449 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Hermansky-Pudlak Syndrome 5 |
|
Thrombocytopenia, Ocular albinism, Albinism |
OMIM:614074 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Myopic astigmatism, Upslanted palpebral fissure, Chorioretinal dysplasia, Epicanthus, Chorioretin... |
OMIM:152950 |
Anemia, Sideroblastic, 5 |
|
Reduced hematocrit, Neutropenia, Hypochromic microcytic anemia, Anemia, Thrombocytopenia |
OMIM:619523 |
Retinitis Pigmentosa 9 |
|
Cataract |
OMIM:180104 |
Aniridia 1 |
|
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... |
OMIM:106210 |
Triopia |
|
Abnormal eyebrow morphology, Iris coloboma, Abnormal pupil morphology, Microcornea, Blepharophimosis |
ORPHA:3374 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Posterior lenticonus, Microcornea, Chorioretinal coloboma, Iris coloboma |
ORPHA:231736 |
Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract |
OMIM:193230 |
Brittle Cornea Syndrome 1 |
|
Decreased corneal thickness, Keratoglobus, Epicanthus, Abnormal cornea morphology, Keratoconus, R... |
OMIM:229200 |
Sebastian syndrome |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:605249 |
Cataract 43 |
|
Subcapsular cataract |
OMIM:616279 |
Cernunnos-Xlf Deficiency |
|
B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia, T lymphocytopenia |
ORPHA:169079 |
X-Linked Immunoneurologic Disorder |
|
Cataract |
ORPHA:2571 |
Refractory Anemia |
|
Macrocytic anemia, Normocytic anemia, Neutropenia, Normochromic anemia, Erythroid hypoplasia, Thr... |
ORPHA:98826 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Neutropenia, Increased mean corpuscular volume, Anemia, Acute myeloid leukemia, Pancytopenia, Thr... |
OMIM:619041 |
Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Cataract, Sparse body hair, Epicanthus |
ORPHA:177 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract, Choroideremia |
OMIM:116600 |
Fanconi Anemia, Complementation Group G |
|
Leukemia, Thrombocytopenia, Neutropenia, Anemia |
OMIM:614082 |
Infantile Spasms-Broad Thumbs Syndrome |
|
Downslanted palpebral fissures, Cataract |
ORPHA:3173 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Cataract |
OMIM:617228 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Downslanted palpebral fissures, Neutropenia, Cataract |
OMIM:251190 |
Norrie Disease |
|
Opacification of the corneal stroma, Shallow anterior chamber, Cataract, Hypoplasia of the iris |
OMIM:310600 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia |
OMIM:252270 |
Short Syndrome |
|
Posterior embryotoxon, Hypoplasia of the iris, Alopecia, Telecanthus, Abnormal pupil morphology, ... |
ORPHA:3163 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract |
OMIM:204000 |
Bone Marrow Failure Syndrome 2 |
|
Thrombocytopenia, Anemia, Leukopenia |
OMIM:615715 |
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance |
|
Epicanthus, Cataract |
OMIM:612947 |
Gray Platelet Syndrome |
|
Thrombocytopenia, Abnormality of thrombocytes, Splenomegaly |
ORPHA:721 |
Forsythe-Wakeling Syndrome |
|
Thrombocytopenia |
OMIM:613606 |
Erythrokeratodermia Variabilis |
|
Abnormal hair morphology, Alopecia, Corneal opacity, Cataract, Generalized hirsutism |
ORPHA:317 |
Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Telecanthus, Hypertrichosis, Cataract, Ptosis |
OMIM:247410 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Cataract |
OMIM:615704 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Neutropenia, Acute leukemia, Splenomegaly, Microcytic anemia, Thrombocytopenia, HbH hemoglobin |
ORPHA:231401 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Narrow palpebral fissure, Ptosis, Sclerocornea, Iris coloboma, Microcornea, Ocular anterior segme... |
OMIM:615145 |
Thrombocytopenia, Paris-Trousseau Type |
|
Thrombocytopenia, Ptosis |
OMIM:188025 |
Laurence-Moon Syndrome |
|
Epicanthus, Cataract, Iris coloboma |
ORPHA:2377 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia |
ORPHA:529 |
Galactose Mutarotase Deficiency |
|
Cataract |
ORPHA:570422 |
Isolated Congenital Alacrima |
|
Corneal erosion, Ptosis, Keratitis, Lacrimal punctal atresia, Distichiasis, Lacrimal gland hypopl... |
ORPHA:91416 |
Noonan Syndrome 4 |
|
Blue irides, Ptosis, Bilateral ptosis, Sparse eyebrow, Epicanthus, Downslanted palpebral fissures... |
OMIM:610733 |
Cataract 5, Multiple Types |
|
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract |
OMIM:116800 |
Hereditary Mucoepithelial Dysplasia |
|
Fine hair, Alopecia, Corneal dystrophy, Cataract, Sparse hair |
ORPHA:1839 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Neutropenia, Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocyto... |
OMIM:159550 |
Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
Atypical Hemolytic Uremic Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
ORPHA:2134 |
Polycythemia Vera |
|
Thrombocytosis, Leukocytosis, Increased red blood cell mass, Splenomegaly, Increased hematocrit, ... |
OMIM:263300 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hirsutism, Splenomegaly, Reticulocytosis, Thrombocytopenia, Hemolytic anemia |
OMIM:314050 |
Aicardi-Goutieres Syndrome 3 |
|
Thrombocytopenia, Hepatosplenomegaly |
OMIM:610329 |
Fetal Parvovirus Syndrome |
|
Thrombocytopenia, Anemia |
ORPHA:295 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Developmental cataract, Thick eyebrow, Cataract |
ORPHA:436174 |
Olmsted Syndrome 1 |
|
Opacification of the corneal stroma, Nail dystrophy, Corneal opacity, Alopecia universalis, Spars... |
OMIM:614594 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Corneal opac... |
OMIM:221900 |
Wiskott-Aldrich Syndrome 2 |
|
Thrombocytopenia, Decreased proportion of CD8-positive T cells |
OMIM:614493 |
Phenylketonuria |
|
Blue irides, Cataract, Fair hair |
OMIM:261600 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Fine hair, Keratoconjunctivitis sicca, Sclerocornea, Corneal dystrophy, Cataract, Microcornea, Sp... |
ORPHA:1806 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Cataract |
OMIM:613154 |
Charcot-Marie-Tooth Disease Type 1B |
|
Abnormal pupil morphology |
ORPHA:101082 |
Peroxisome Biogenesis Disorder 11B |
|
Cataract |
OMIM:614885 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:613763 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia pupillae, Ectopia lentis |
ORPHA:1885 |
Fuchs Endothelial Corneal Dystrophy |
|
Reduced number of corneal endothelial cells, Corneal opacity, Abnormal corneal endothelium morpho... |
ORPHA:98974 |
Oculoauricular Syndrome |
|
Iris cyst, Developmental cataract, Chorioretinal coloboma, Posterior embryotoxon, Microphakia, Sc... |
OMIM:612109 |
Fanconi Anemia, Complementation Group T |
|
Pancytopenia, Thrombocytopenia, Anemia |
OMIM:616435 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Thrombocytopenia, Alopecia, Autoimmune hemolytic anemia |
OMIM:616576 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Astigmatism, Iris hypopigmentation, Ocular albinism |
ORPHA:54 |
Autoinflammatory Syndrome, Familial, Behcet-Like |
|
Thrombocytopenia, Hemolytic anemia, Lymphopenia, Anterior uveitis |
OMIM:616744 |
Schimke Immunoosseous Dysplasia |
|
Fine hair, Abnormal T cell morphology, Neutropenia, Thrombocytopenia, Coarse hair, Astigmatism, A... |
OMIM:242900 |
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract |
|
Developmental cataract, Posterior synechiae of the anterior chamber |
OMIM:616722 |
Neurotrophic Keratopathy |
|
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Corneal scarring, Anteri... |
ORPHA:137596 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14 |
|
Cataract |
OMIM:615352 |
Achromatopsia 3 |
|
Cataract |
OMIM:262300 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Downslanted palpebral fissures, Ectopia lentis |
OMIM:601552 |
Leber Congenital Amaurosis |
|
Keratoconus, Cataract |
ORPHA:65 |
Linear Verrucous Nevus Syndrome |
|
Sparse scalp hair, Abnormal cornea morphology, Cataract, Iris coloboma |
ORPHA:2611 |
Martsolf Syndrome 2 |
|
Developmental cataract, Cataract |
OMIM:619420 |
Alport Syndrome 1, X-Linked |
|
Developmental cataract, Corneal erosion, Anterior lenticonus, Lenticonus, Thrombocytopenia |
OMIM:301050 |
Dwarfism With Stiff Joints And Ocular Abnormalities |
|
Cataract |
OMIM:127200 |
Distal Trisomy 6P |
|
Fine hair, Ptosis, Cataract, Blepharophimosis, Abnormal eyelash morphology, Abnormal hair quantity |
ORPHA:1745 |
Usher Syndrome Type 1 |
|
Cataract, Iris hypopigmentation |
ORPHA:231169 |
Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
Pseudo-Torch Syndrome 1 |
|
Opacification of the corneal stroma, Thrombocytopenia, Cataract, Splenomegaly |
OMIM:251290 |
Hermansky-Pudlak Syndrome 2 |
|
Neutropenia, Ocular albinism, Upslanted palpebral fissure, Enlarged platelet dense granules, Abse... |
OMIM:608233 |
Pontocerebellar Hypoplasia, Type 15 |
|
Chronic neutropenia, Thrombocytopenia, Anemia |
OMIM:619302 |
Malaria |
|
Thrombocytopenia, Anemia |
ORPHA:673 |
Hereditary Bullous Dystrophy, Macular Type |
|
Nail dystrophy, Alopecia, Atrichia, Corneal opacity, Cataract, Congenital abnormal hair pattern |
ORPHA:1867 |
Phacoanaphylactic Uveitis |
|
Conjunctival hyperemia, Hypopyon, Corneal keratic precipitates, Posterior uveitis, Corneal stroma... |
ORPHA:209959 |
Retinopathy, Pigmentary, And Mental Retardation |
|
Cataract |
OMIM:268050 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets, Leukocyte inclusion bodies |
OMIM:155100 |
Cone-Rod Dystrophy 16 |
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Cataract |
OMIM:614500 |
Nephrotic Syndrome, Type 7 |
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Thrombocytopenia, Hemolytic anemia |
OMIM:615008 |
Cronkhite-Canada Syndrome |
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Dystrophic fingernails, Patchy alopecia, Dystrophic toenail, Alopecia, Anemia, Splenomegaly, Cata... |
ORPHA:2930 |
Bleeding Disorder, Platelet-Type, 20 |
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Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
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Thrombocytopenia |
OMIM:613554 |
Lathosterolosis |
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Anisopoikilocytosis, Thrombocytopenia, Ptosis, Abnormal platelet morphology, Epicanthus, Downslan... |
ORPHA:46059 |
Birdshot Chorioretinopathy |
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Choroidal neovascularization, Abnormal chorioretinal morphology, Cataract, Abnormal choroid morph... |
ORPHA:179 |
Transcobalamin Deficiency |
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Pancytopenia, Thrombocytopenia, Neutropenia, Lymphopenia |
ORPHA:859 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
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Highly arched eyebrow, Long eyelashes, Cataract, Frontal upsweep of hair, Synophrys |
OMIM:619286 |
Chediak-Higashi Syndrome |
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Neutropenia, Ocular albinism, Silver-gray hair, Leukopenia, Abnormal dense granules, Giant neutro... |
OMIM:214500 |
Myopathy, Tubular Aggregate, 1 |
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Abnormal pupil morphology |
OMIM:160565 |
Cataract, Age-Related Nuclear |
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Nuclear cataract |
OMIM:601371 |
Amed Syndrome, Digenic |
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Leukopenia, Anemia, Telecanthus, Acute myeloid leukemia, Thrombocytopenia |
OMIM:619151 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
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Downslanted palpebral fissures, Epicanthus, Cataract |
OMIM:614105 |
Coloboma, Ocular, Autosomal Recessive |
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Cataract, Lens subluxation, Iris coloboma |
OMIM:216820 |
Frontofacionasal Dysplasia |
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Eyelid coloboma, Ptosis, Ankyloblepharon, Telecanthus, Iris coloboma, Absent inner eyelashes, S-s... |
OMIM:229400 |
Microphthalmia, Isolated, With Corectopia |
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Ectopia pupillae |
OMIM:156900 |
Pontocerebellar Hypoplasia, Type 14 |
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Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Holocarboxylase Synthetase Deficiency |
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Thrombocytopenia, Alopecia, Keratoconjunctivitis |
ORPHA:79242 |
Bleeding Disorder, Platelet-Type, 21 |
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Thrombocytopenia, Alopecia, Impaired platelet aggregation |
OMIM:617443 |
Moyamoya Disease With Early-Onset Achalasia |
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Thrombocytopenia, Abnormal platelet aggregation |
ORPHA:401945 |
Peroxisome Biogenesis Disorder 9B |
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Cataract |
OMIM:614879 |
Chronic Myeloid Leukemia |
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Thrombocytosis, Abnormal basophil morphology, Leukocytosis, Abnormal granulocyte morphology, Sple... |
ORPHA:521 |
Premature Aging Syndrome, Okamoto Type |
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Abnormal hair morphology, Cataract |
OMIM:601811 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
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Microphakia, Cataract, Lens subluxation |
ORPHA:171844 |
Porphyria, Congenital Erythropoietic |
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Hypertrichosis, Corneal scarring, Alopecia, Absent eyebrow, Splenomegaly, Loss of eyelashes, Thro... |
OMIM:263700 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
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Pancytopenia, Thrombocytopenia, Nail dystrophy |
OMIM:613987 |
Zika Virus Disease |
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Lens subluxation, Iris coloboma, Chorioretinal atrophy, Thrombocytopenia, Conjunctivitis |
ORPHA:448237 |
Polycystic Kidney, Cataract, And Congenital Blindness |
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Microcoria, Cataract |
OMIM:263100 |
Wt Limb-Blood Syndrome |
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Leukemia, Thrombocytopenia, Hypoplastic anemia, Pancytopenia |
OMIM:194350 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
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Cataract |
ORPHA:1345 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
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Cataract |
OMIM:613730 |
Stiff Skin Syndrome |
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Cataract |
OMIM:184900 |
Cataract 30, Multiple Types |
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Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract |
OMIM:116300 |
Nevus Comedonicus Syndrome |
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Abnormal hair morphology, Cataract |
ORPHA:64754 |
Anisocoria |
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Anisocoria |
OMIM:106240 |
Thrombocytopenia 5 |
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Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Hemochromatosis, Type 4 |
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Anemia, Cataract |
OMIM:606069 |
Spondylo-Ocular Syndrome |
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Aplasia/Hypoplasia of the lens, Abnormal eyebrow morphology, Cataract, Iris hypopigmentation, Low... |
ORPHA:85194 |
Hypoparathyroidism, Familial Isolated, 1 |
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Cataract |
OMIM:146200 |
Tularemia |
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Conjunctival hyperemia, Leukocytosis, Anemia, Thrombocytopenia, Conjunctivitis |
ORPHA:3392 |
Cataracts, Spastic Paraparesis, And Speech Delay |
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Cataract |
OMIM:619338 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
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Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocytopenia, Anemia of inadequate pro... |
ORPHA:67044 |
+173470 integrin, beta-3 |
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Decreased platelet glycoprotein IIb-IIIa, Post-transfusion thrombocytopenia, Impaired platelet ag... |
OMIM:173470 |
1Q41Q42 Microdeletion Syndrome |
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Upslanted palpebral fissure, Hyposegmentation of neutrophil nuclei, Abnormality iris morphology |
ORPHA:250999 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
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Cataract |
ORPHA:2410 |
Facial Spasm |
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Anisocoria |
OMIM:134300 |
Tangier Disease |
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Ectropion, Nail dystrophy, Anemia, Hepatosplenomegaly, Corneal opacity, Thrombocytopenia |
ORPHA:31150 |
Xeroderma Pigmentosum, Complementation Group D |
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Keratoconjunctivitis sicca, Ectropion, Keratitis, Cataract, Corneal neovascularization, Entropion... |
OMIM:278730 |
Cornea Guttata With Anterior Polar Cataracts |
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Anterior polar cataract |
OMIM:121390 |
Congenital Disorder Of Glycosylation, Type Ix |
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Thrombocytopenia |
OMIM:615597 |
Megalocornea-Intellectual Disability Syndrome |
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Hypoplasia of the iris, Iridodonesis, Epicanthus, Downslanted palpebral fissures, Megalocornea, A... |
ORPHA:2479 |
Wolfram Syndrome, Mitochondrial Form |
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Thrombocytopenia, Megaloblastic anemia, Neutropenia, Sideroblastic anemia |
OMIM:598500 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
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Sparse eyelashes, Thrombocytopenia, Nail dystrophy, Nasolacrimal duct obstruction, Pterygium, Spa... |
OMIM:224230 |
Mevalonic Aciduria |
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Fluctuating splenomegaly, Nuclear cataract, Leukocytosis, Normocytic hypoplastic anemia, Anemia, ... |
OMIM:610377 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Anemia, Splenomegaly, Hepatosplenomegaly, Thrombocytopenia, Hemophagocytosis |
OMIM:613101 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
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Tortuosity of conjunctival vessels, Cataract, Ptosis |
ORPHA:284289 |
Oculodentodigital Dysplasia, Autosomal Recessive |
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Fine hair, Persistent pupillary membrane, Sparse eyelashes, Telecanthus, Epicanthus, Downslanted ... |
OMIM:257850 |
Slc35A1-Cdg |
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Thrombocytopenia, Abnormal platelet granules, Giant platelets, Neutropenia |
ORPHA:238459 |
Sea-Blue Histiocytosis |
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Thrombocytopenia, Blepharitis, Sea-blue histiocytosis, Splenomegaly |
ORPHA:158029 |
Hec Syndrome |
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Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
Joubert Syndrome 9 |
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Astigmatism, Cataract |
OMIM:612285 |
Proteus-Like Syndrome |
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Limbal dermoid, Thymus hyperplasia, Downslanted palpebral fissures, Splenomegaly, Heterochromia i... |
ORPHA:2969 |
Aortic Aneurysm, Familial Thoracic 6 |
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Iris flocculi |
OMIM:611788 |
Kyrle Disease |
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Posterior subcapsular cataract |
OMIM:149500 |
Gorlin Syndrome |
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Telecanthus, Cataract, Epicanthus, Iris coloboma |
ORPHA:377 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
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Congenital ptosis, Cataract, Premature graying of hair |
ORPHA:280679 |
Microphthalmia With Brain And Digit Anomalies |
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Chorioretinal coloboma, Sclerocornea, Iris coloboma, Cataract, Microcornea |
ORPHA:139471 |
Mucopolysaccharidosis-Plus Syndrome |
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Hirsutism, Neutropenia, Low anterior hairline, Leukopenia, Thrombocytopenia, Coarse hair, Long ey... |
OMIM:617303 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
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Thrombocytopenia |
OMIM:314000 |
Jacobsen Syndrome |
|
Chorioretinal coloboma, Eyelid coloboma, Ptosis, Telecanthus, Epicanthus, Iris coloboma, Nasolacr... |
OMIM:147791 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
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Thrombocytopenia, Sideroblastic anemia |
OMIM:617021 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
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Anemia, Thrombocytopenia, Neutropenia, Congenital thrombocytopenia |
OMIM:616738 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
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Corneal scarring, Nail dystrophy, Alopecia, Anemia, Cataract, Conjunctivitis |
OMIM:226600 |
Non-Involuting Congenital Hemangioma |
|
Thrombocytopenia |
ORPHA:141179 |
Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract |
OMIM:221800 |
Morning Glory Disc Anomaly |
|
Cataract |
ORPHA:35737 |
Cahmr Syndrome |
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Lamellar cataract, Generalized hypertrichosis |
OMIM:211770 |
Bernard-Soulier Syndrome |
|
Thrombocytopenia, Giant platelets, Impaired ristocetin-induced platelet aggregation |
OMIM:231200 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
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Ocular albinism, White hair, Hypochromic anemia, Cataract, Iris hypopigmentation, Abnormality of ... |
ORPHA:2720 |
Megalocornea-Mental Retardation Syndrome |
|
Hypoplasia of the iris, Low anterior hairline, Iridodonesis, Epicanthus, Downslanted palpebral fi... |
OMIM:249310 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Thrombocytopenia |
OMIM:614727 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
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Abnormal dense granule content, Acute myeloid leukemia, Abnormal alpha granule content, Acute mon... |
OMIM:601399 |
Hemangioma-Thrombocytopenia Syndrome |
|
Thrombocytopenia, Microangiopathic hemolytic anemia |
OMIM:141000 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Thrombocytopenia, Anemia |
OMIM:614946 |
Cataract 31, Multiple Types |
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Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract |
OMIM:605387 |
Omenn Syndrome |
|
B lymphocytopenia, Hypoplasia of the thymus, Alopecia, Anemia, Splenomegaly, Severe B lymphocytop... |
OMIM:603554 |
Thrombocytopenia, Anemia, And Myelofibrosis |
|
Thrombocytopenia, Anisopoikilocytosis, Anemia, Splenomegaly |
OMIM:617441 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Cataract, Corneal erosion |
OMIM:614878 |
X-Linked Agammaglobulinemia |
|
Neutropenia, Alopecia, Anemia, Thrombocytopenia, Conjunctivitis |
ORPHA:47 |
Cataract 24 |
|
Anterior polar cataract |
OMIM:601202 |
Mucoepithelial Dysplasia, Hereditary |
|
Nail dystrophy, Alopecia, Coarse hair, Cataract, Opacification of the corneal stroma, Eosinophili... |
OMIM:158310 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Microcytic anemia, Cataract |
OMIM:618805 |
Aicardi-Goutieres Syndrome 4 |
|