Microphthalmia/Coloboma 10 |
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Anophthalmia, Microphthalmia, Microcoria, Iris coloboma |
OMIM:616428 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
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Cataract, Hepatomegaly |
ORPHA:79281 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:85275 |
Microphthalmia/Coloboma 5 |
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Bilateral microphthalmos, Microphthalmia, Anophthalmia, Iris coloboma |
OMIM:611638 |
Microphthalmia, Isolated 1 |
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Microphthalmia, Anophthalmia |
OMIM:251600 |
Galactosemia Iv |
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Cataract, Prolonged neonatal jaundice, Hepatomegaly |
OMIM:618881 |
Microphthalmia, Isolated, With Cataract 1 |
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Cataract, Microphthalmia |
OMIM:156850 |
Microphthalmia, Syndromic 16 |
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Microphthalmia, Sclerocornea, Anophthalmia |
OMIM:611038 |
Microphthalmia, Isolated 8 |
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Microphthalmia, True anophthalmia, Anophthalmia, Retinal detachment, Optic nerve hypoplasia, Reti... |
OMIM:615113 |
Cataract 9, Multiple Types |
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Microphthalmia, Microcornea, Progressive cataract, Developmental cataract, Cataract, Iris coloboma |
OMIM:604219 |
Corneal Dystrophy, Groenouw Type I |
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Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy |
OMIM:121900 |
Cataract 11, Multiple Types |
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Cataract, Microphthalmia, Developmental cataract |
OMIM:610623 |
Microphthalmia/Coloboma 3 |
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Cataract, Microphthalmia, Iris coloboma |
OMIM:610092 |
Cataract 42 |
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Cataract, Developmental cataract |
OMIM:115900 |
Galactosemia Ii |
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Cataract, Prolonged neonatal jaundice |
OMIM:230200 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
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Posterior lenticonus, Microphthalmia, Microcornea, Remnants of the hyaloid vascular system, Iris ... |
ORPHA:231736 |
Anterior Segment Dysgenesis 8 |
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Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... |
OMIM:617319 |
Microphthalmia, Syndromic 12 |
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Microphthalmia, Anophthalmia |
OMIM:615524 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
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Cataract, Elevated circulating aspartate aminotransferase concentration, Jaundice, Hepatomegaly |
OMIM:614876 |
Microphthalmia With Brain And Digit Anomalies |
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Microphthalmia, Anophthalmia, Microcornea, Sclerocornea, Cataract, Iris coloboma |
ORPHA:139471 |
Cataract-Microcornea Syndrome |
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Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma |
ORPHA:1377 |
Microphthalmia, Isolated 5 |
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Microphthalmia, Bone spicule pigmentation of the retina, Optic disc drusen, Retinal pigment epith... |
OMIM:611040 |
Iris Pigment Layer, Cleavage Of |
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Cataract, Peripheral retinal detachment |
OMIM:147610 |
Microphthalmia, Syndromic 5 |
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Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Microcornea, Cataract |
OMIM:610125 |
Megalocornea |
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Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... |
OMIM:309300 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
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Optic atrophy, Microphthalmia, Retinal detachment, Corneal opacity, Posterior embryotoxon, Catara... |
ORPHA:1473 |
Fryns Microphthalmia Syndrome |
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Microphthalmia, Anophthalmia |
OMIM:600776 |
Coats Disease |
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Retinal detachment, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris, Cataract |
ORPHA:190 |
Walker-Warburg Syndrome |
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Optic atrophy, Microphthalmia, Retinal dysplasia, Anophthalmia, Retinal detachment, Microcornea, ... |
ORPHA:899 |
Cataract 50 With Or Without Glaucoma |
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Retinal detachment, Persistent pupillary membrane, Cataract |
OMIM:620253 |
Trisomy 13 |
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Optic atrophy, Microphthalmia, Anophthalmia, Cataract, Aplasia/Hypoplasia of the iris, Iris coloboma |
ORPHA:3378 |
Oculocerebrocutaneous Syndrome |
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Microphthalmia, Anophthalmia |
OMIM:164180 |
Galactose Epimerase Deficiency |
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Cataract, Jaundice, Splenomegaly, Hepatomegaly |
ORPHA:79238 |
Galactose Mutarotase Deficiency |
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Cataract, Hepatomegaly, Cholestasis, Decreased liver function |
ORPHA:570422 |
Persistent Hyperplastic Primary Vitreous |
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Microphthalmia, Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyal... |
ORPHA:91495 |
Autosomal Dominant Keratitis |
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Corneal neovascularization, Bilateral microphthalmos, Aniridia, Limbal stem cell deficiency, Micr... |
ORPHA:2334 |
Anencephaly 2 |
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Anophthalmia |
OMIM:619452 |
Cockayne Syndrome Type 2 |
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Hepatomegaly, Developmental cataract, Anophthalmia, Conjunctivitis |
ORPHA:90322 |
Meckel Syndrome, Type 8 |
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Microphthalmia, Anophthalmia |
OMIM:613885 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
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Anophthalmia |
ORPHA:411986 |
Anterior Segment Dysgenesis 7 |
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Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C... |
OMIM:269400 |
Aniridia 2 |
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Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma |
OMIM:617141 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
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Cataract, Microphthalmia, Hepatomegaly, Optic disc pallor |
OMIM:613730 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
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Cataract, Microphthalmia, Iris coloboma |
OMIM:120433 |
Leber Congenital Amaurosis 1 |
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Hepatomegaly, Optic disc drusen, Keratoconus, Cataract, Pigmentary retinopathy |
OMIM:204000 |
Aniridia-Intellectual Disability Syndrome |
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Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia |
ORPHA:1068 |
Anophthalmia Plus Syndrome |
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Anophthalmia, Iris coloboma |
ORPHA:1104 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Microphthalmia, Microcornea, Corneal opacity, Retinal nonattachment, Persistent pupillary membran... |
OMIM:221900 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
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Microphthalmia, Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concent... |
OMIM:618805 |
Congenital Varicella Syndrome |
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Cataract, Microphthalmia |
ORPHA:291 |
Matthew-Wood Syndrome |
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Annular pancreas, Microphthalmia, Aplasia/Hypoplasia of the pancreas, Anophthalmia, Abnormal sple... |
ORPHA:2470 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Microphthalmia, Anophthalmia, Microcornea, Sclerocornea, Ectopia pupillae, Cataract |
OMIM:615877 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Microphthalmia, Sclerocornea, Anophthalmia, Iris coloboma |
ORPHA:77298 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
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Retinal detachment, Lens subluxation, Lattice retinal degeneration, Cataract |
OMIM:614292 |
Thanatophoric Dysplasia, Glasgow Variant |
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Cataract, Hepatosplenomegaly |
OMIM:273680 |
Microphthalmia/Coloboma 12 |
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Microphthalmia, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Op... |
OMIM:120200 |
Cockayne Syndrome Type 1 |
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Optic atrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anophthalmi... |
ORPHA:90321 |
Meckel Syndrome |
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Optic atrophy, Microphthalmia, Accessory spleen, Anophthalmia, Microcornea, Asplenia, Sclerocorne... |
ORPHA:564 |
Exfoliation Syndrome |
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Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... |
OMIM:177650 |
Stickler Syndrome Type 2 |
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Retinal detachment, Corneal opacity, Cataract |
ORPHA:90654 |
Congenital Rubella Syndrome |
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Microphthalmia, Jaundice, Hepatomegaly, Corneal opacity, Abnormality of retinal pigmentation, Spl... |
ORPHA:290 |
Anterior Segment Dysgenesis 2 |
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Microphthalmia, Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of e... |
OMIM:610256 |
Norrie Disease |
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Optic atrophy, Microphthalmia, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacit... |
OMIM:310600 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
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Microphthalmia, Retinal detachment, Corneal scarring, Cataract, Buphthalmos, Macular atrophy, Iri... |
OMIM:212550 |
Ectopia Lentis Et Pupillae |
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Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... |
OMIM:225200 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
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Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Retinitis Pigmentosa 84 |
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Cataract, Macular coloboma, Bone spicule pigmentation of the retina, Macular atrophy |
OMIM:618220 |
Oculopalatocerebral Syndrome |
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Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria |
OMIM:257910 |
Myopia 28, Autosomal Recessive |
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Retinal detachment, Cataract |
OMIM:619781 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
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Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation |
ORPHA:171844 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
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Cataract, Microcornea, Aniridia |
OMIM:106230 |
Isolated Aniridia |
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Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia |
ORPHA:250923 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
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Cataract, Microphthalmia, Retinal coloboma |
OMIM:601794 |
Hydrolethalus |
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Microphthalmia, Anophthalmia |
ORPHA:2189 |
Cerebrooculonasal Syndrome |
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Anophthalmia |
ORPHA:66625 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
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Cataract, Microphthalmia, Retinal coloboma |
ORPHA:363741 |
Vitreoretinal Degeneration, Snowflake Type |
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Retinal detachment, Cataract, Corneal guttata, Snowflake vitreoretinal degeneration |
OMIM:193230 |
Solitary Median Maxillary Central Incisor |
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Microphthalmia, Anophthalmia |
OMIM:147250 |
Microphthalmia With Limb Anomalies |
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Microphthalmia, Anophthalmia |
OMIM:206920 |
Microphthalmia, Syndromic 3 |
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Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Optic nerve aplasia, Sclerocornea, Cataract |
OMIM:206900 |
Manitoba Oculotrichoanal Syndrome |
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Microphthalmia, Corneopalpebral synechiae, Anophthalmia |
OMIM:248450 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Morning Glory Disc Anomaly |
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Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Trisomy 1Q |
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Anophthalmia |
ORPHA:261344 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Cataract, Microphthalmia, Anophthalmia, Iris coloboma |
ORPHA:2250 |
Oculotrichoanal Syndrome |
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Microphthalmia, Anophthalmia |
ORPHA:2717 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
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Megalocornea, Corneal dystrophy, Aniridia, Anophthalmia |
ORPHA:1101 |
Cataract 47 |
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Cataract, Microcornea |
OMIM:612018 |
Coloboma, Ocular, Autosomal Recessive |
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Retinal coloboma, Optic disc coloboma, Cataract, Lens subluxation, Iris coloboma |
OMIM:216820 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Optic atrophy, Microphthalmia, Retinal dysplasia, Anophthalmia, Retinal detachment, Abnormality o... |
ORPHA:2526 |
Pierson Syndrome |
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Posterior lenticonus, Microphthalmia, Hypoplasia of the ciliary body, Retinal detachment, Remnant... |
OMIM:609049 |
Cataract 10, Multiple Types |
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Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract |
OMIM:600881 |
Microphthalmia, Syndromic 9 |
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Multilobulated spleen, Bilateral microphthalmos, Hypoplastic spleen, Anophthalmia |
OMIM:601186 |
Oculo-Palato-Cerebral Syndrome |
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Microphthalmia, Retinal detachment, Remnants of the hyaloid vascular system, Leukocoria, Cataract |
ORPHA:2714 |
Aniridia 1 |
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Corneal neovascularization, Macular agenesis, Aniridia, Corneal erosion, Optic nerve hypoplasia, ... |
OMIM:106210 |
Amoebic Keratitis |
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Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... |
ORPHA:67043 |
Vacterl With Hydrocephalus |
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Microcornea, Microphthalmia, Anophthalmia |
ORPHA:3412 |
Optic Nerve Hypoplasia, Bilateral |
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Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system |
OMIM:165550 |
Holoprosencephaly |
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Optic atrophy, Microphthalmia, Anophthalmia, Abnormality of the spleen, Iris coloboma |
ORPHA:2162 |
Oculoauricular Syndrome |
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Microphakia, Ocular anterior segment dysgenesis, Microphthalmia, Iris cyst, Retinal detachment, M... |
OMIM:612109 |
Aniridia 3 |
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Cataract, Aniridia |
OMIM:617142 |
Fibular Hemimelia |
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Abnormal anterior chamber morphology, Anophthalmia |
ORPHA:93323 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Microphthalmia, Retinal dysplasia, Retinal detachment, Optic nerve hypoplasia, Remnants of the hy... |
OMIM:614643 |
Proboscis Lateralis |
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Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Microcornea, Corneal opacity, Optic disc co... |
ORPHA:141099 |
Microgastria-Limb Reduction Defect Syndrome |
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Microphthalmia, Hepatomegaly, Abnormality of the spleen, Anophthalmia |
ORPHA:2538 |
Cerebrooculonasal Syndrome |
|
Optic nerve hypoplasia, Anophthalmia, Iris coloboma |
OMIM:605627 |
Aniridia And Absent Patella |
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Cataract, Aniridia |
OMIM:106220 |
Joubert Syndrome 21 |
|
Optic atrophy, Megalopapilla, Splenomegaly, Anophthalmia |
OMIM:615636 |
Microphthalmia With Linear Skin Defects Syndrome |
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Microphthalmia, Retinal dysplasia, Anophthalmia, Corneal opacity, Posterior embryotoxon, Abnormal... |
ORPHA:2556 |
Microphthalmia, Syndromic 2 |
|
Microphthalmia, Anophthalmia, Retinal detachment, Microcornea, Remnants of the hyaloid vascular s... |
OMIM:300166 |
Exudative Vitreoretinopathy 6 |
|
Patchy atrophy of the retinal pigment epithelium, Retinal detachment, Tractional retinal detachme... |
OMIM:616468 |
Cataract 5, Multiple Types |
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Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116800 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
Charge Syndrome |
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Optic atrophy, Microphthalmia, Webbed neck, Anophthalmia, Iris coloboma |
ORPHA:138 |
Hyperferritinemia With Or Without Cataract |
|
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract |
OMIM:600886 |
Autoimmune Polyendocrine Syndrome, Type Ii |
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Cirrhosis, Band keratopathy, Keratoconjunctivitis, Asplenia, Chronic hepatitis, Exocrine pancreat... |
OMIM:269200 |
Focal Dermal Hypoplasia |
|
Optic atrophy, Microphthalmia, Aniridia, Anophthalmia, Ectopia lentis, Iris coloboma |
OMIM:305600 |
Charge Syndrome |
|
Microphthalmia, Webbed neck, Anophthalmia, Unilateral microphthalmos, Retinal coloboma, Cataract,... |
OMIM:214800 |
Fraser Syndrome 1 |
|
Bilateral microphthalmos, Corneal opacity, Anophthalmia |
OMIM:219000 |
Atelis Syndrome 2 |
|
Microphthalmia, Developmental cataract, Remnants of the hyaloid vascular system |
OMIM:620185 |
Holoprosencephaly 9 |
|
Optic nerve hypoplasia, Microphthalmia, Anophthalmia |
OMIM:610829 |
Microphthalmia With Limb Anomalies |
|
Optic atrophy, Microphthalmia, True anophthalmia |
ORPHA:1106 |
Branchiooculofacial Syndrome |
|
Microphthalmia, Anophthalmia, Retinal coloboma, Cataract, Iris coloboma |
OMIM:113620 |
Norrie Disease |
|
Optic atrophy, Microphthalmia, Aplasia/Hypoplasia of the lens, Retinal detachment, Corneal opacit... |
ORPHA:649 |
Microphthalmia, Syndromic 6 |
|
Microcornea, Microphthalmia, Sclerocornea, Anophthalmia |
OMIM:607932 |
Neuroocular Syndrome |
|
Microphthalmia, Microcornea, Stellate iris, Remnants of the hyaloid vascular system, Hypoplasia o... |
OMIM:619539 |
Microphthalmia, Syndromic 1 |
|
Microphthalmia, Ciliary body coloboma, Webbed neck, Anophthalmia, Microcornea, Optic disc colobom... |
OMIM:309800 |
Fraser Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2052 |
Full Nf2-Related Schwannomatosis |
|
Cortical cataract, Posterior subcapsular cataract, Remnants of the hyaloid vascular system |
ORPHA:637 |
Craniofacial Microsomia 1 |
|
Limbal dermoid, Microphthalmia, Anophthalmia |
OMIM:164210 |
Acromelic Frontonasal Dysostosis |
|
Optic nerve hypoplasia, Remnants of the hyaloid vascular system |
OMIM:603671 |
Holoprosencephaly 2 |
|
Microphthalmia, Remnants of the hyaloid vascular system, Iris coloboma |
OMIM:157170 |