Microphthalmia, Isolated, With Coloboma 10 |
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Iris coloboma, Anophthalmia, Chorioretinal coloboma, Microphthalmia |
OMIM:616428 |
Microphthalmia, Isolated, With Coloboma 5 |
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Anophthalmia, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Chorioretinal coloboma |
OMIM:611638 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
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Anophthalmia, Microphthalmia |
ORPHA:85275 |
Microphthalmia, Isolated 1 |
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Anophthalmia, Microphthalmia |
OMIM:251600 |
Microphthalmia, Isolated 8 |
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Retinal coloboma, Optic nerve hypoplasia, Retinal detachment, Anophthalmia, True anophthalmia, Mi... |
OMIM:615113 |
Microphthalmia, Syndromic 12 |
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Anophthalmia, Congenital diaphragmatic hernia, Microphthalmia |
OMIM:615524 |
Dextrocardia With Unusual Facies And Microphthalmia |
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Anophthalmia, Microphthalmia |
OMIM:221950 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
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Remnants of the hyaloid vascular system, Posterior lenticonus, Iris coloboma, Microphthalmia, Cho... |
ORPHA:231736 |
Microphthalmia, Isolated 3 |
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Anophthalmia, Microphthalmia |
OMIM:611038 |
Fryns Microphthalmia Syndrome |
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Anophthalmia, Microphthalmia |
OMIM:600776 |
Meckel Syndrome, Type 8 |
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Anophthalmia, Microphthalmia |
OMIM:613885 |
Anencephaly 2 |
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Anophthalmia |
OMIM:619452 |
Oculocerebrocutaneous Syndrome |
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Anophthalmia, Microphthalmia |
OMIM:164180 |
Solitary Median Maxillary Central Incisor |
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Coloboma, Cyclopia, Anophthalmia, Microphthalmia |
OMIM:147250 |
Walker-Warburg Syndrome |
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Muscular dystrophy, Retinal detachment, Anophthalmia, Optic atrophy, Iris coloboma, Aplasia/Hypop... |
ORPHA:899 |
Anophthalmia Plus Syndrome |
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Iris coloboma, Anophthalmia |
ORPHA:1104 |
Microphthalmia With Brain And Digit Anomalies |
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Iris coloboma, Anophthalmia, Chorioretinal coloboma, Microphthalmia |
ORPHA:139471 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
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Anophthalmia |
ORPHA:411986 |
Trisomy 13 |
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Anophthalmia, Optic atrophy, Iris coloboma, Microphthalmia, Aplasia/Hypoplasia of the iris |
ORPHA:3378 |
Manitoba Oculotrichoanal Syndrome |
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Anophthalmia, Microphthalmia |
OMIM:248450 |
Microphthalmia, Syndromic 5 |
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Coloboma, Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:610125 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
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Iris coloboma, Anophthalmia, Microphthalmia |
ORPHA:77298 |
Matthew-Wood Syndrome |
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Anophthalmia, Congenital diaphragmatic hernia, Microphthalmia |
ORPHA:2470 |
Microphthalmia With Limb Anomalies |
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Camptodactyly of 2nd-5th fingers, Anophthalmia, Microphthalmia |
OMIM:206920 |
Coloboma, Ocular, Autosomal Dominant |
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Remnants of the hyaloid vascular system, Optic disc coloboma, Microphthalmia, Optic nerve aplasia... |
OMIM:120200 |
Cockayne Syndrome Type 2 |
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Limb hypertonia, Anophthalmia, Flexion contracture |
ORPHA:90322 |
Trisomy 1Q |
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Camptodactyly of finger, Anophthalmia, Congenital diaphragmatic hernia |
ORPHA:261344 |
Hydrolethalus |
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Anophthalmia, Microphthalmia |
ORPHA:2189 |
Cerebrooculonasal Syndrome |
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Anophthalmia |
ORPHA:66625 |
Oculopalatocerebral Syndrome |
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Remnants of the hyaloid vascular system, Microphthalmia |
OMIM:257910 |
Optic Nerve Hypoplasia, Bilateral |
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Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system |
OMIM:165550 |
Oculotrichoanal Syndrome |
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Anophthalmia, Microphthalmia |
ORPHA:2717 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
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Coloboma, Anophthalmia, Microphthalmia |
OMIM:615877 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
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Camptodactyly of finger, Hypoplasia of the musculature, Anophthalmia, Aniridia |
ORPHA:1101 |
Microphthalmia, Syndromic 9 |
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Congenital diaphragmatic hernia, Diaphragmatic eventration, Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
Cockayne Syndrome Type 1 |
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Optic atrophy, Foot joint contracture, Anophthalmia, Pigmentary retinopathy |
ORPHA:90321 |
Holoprosencephaly |
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Congenital diaphragmatic hernia, Anophthalmia, Optic atrophy, Iris coloboma, Cyclopia, Microphtha... |
ORPHA:2162 |
Microphthalmia, Syndromic 3 |
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Optic nerve hypoplasia, Anophthalmia, Coloboma, Microphthalmia, Optic nerve aplasia |
OMIM:206900 |
Persistent Hyperplastic Primary Vitreous |
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Remnants of the hyaloid vascular system, Microphthalmia, Buphthalmos, Hyaloid vascular remnant an... |
ORPHA:91495 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Iris coloboma, Anophthalmia, Microphthalmia |
ORPHA:2250 |
Pierson Syndrome |
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Remnants of the hyaloid vascular system, Microphthalmia, Retinal detachment, Posterior lenticonus... |
OMIM:609049 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
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Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Muscular dystrophy, Retinal deta... |
OMIM:614643 |
Cerebrooculonasal Syndrome |
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Optic nerve hypoplasia, Iris coloboma, Anophthalmia |
OMIM:605627 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
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Abnormality of retinal pigmentation, Retinal detachment, Anophthalmia, Optic atrophy, Microphthal... |
ORPHA:2526 |
Proboscis Lateralis |
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Optic nerve hypoplasia, Anophthalmia, Optic disc coloboma, Iris coloboma, Cyclopia, Microphthalmi... |
ORPHA:141099 |
Fibular Hemimelia |
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Anophthalmia |
ORPHA:93323 |
Microphthalmia, Syndromic 2 |
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Contracture of the proximal interphalangeal joint of the 3rd toe, Remnants of the hyaloid vascula... |
OMIM:300166 |
Microphthalmia With Linear Skin Defects Syndrome |
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Abnormality of retinal pigmentation, Congenital diaphragmatic hernia, Anophthalmia, Microphthalmi... |
ORPHA:2556 |
Vacterl With Hydrocephalus |
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Anophthalmia, Microphthalmia |
ORPHA:3412 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
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Remnants of the hyaloid vascular system, Buphthalmos, Retinal nonattachment, Iris coloboma, Micro... |
OMIM:221900 |
Microgastria-Limb Reduction Defect Syndrome |
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Anophthalmia, Congenital muscular torticollis, Microphthalmia |
ORPHA:2538 |
14Q22Q23 Microdeletion Syndrome |
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Optic nerve aplasia, Anophthalmia |
ORPHA:264200 |
Meckel Syndrome |
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Optic atrophy, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia |
ORPHA:564 |
Focal Dermal Hypoplasia |
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Diastasis recti, Congenital diaphragmatic hernia, Anophthalmia, Optic atrophy, Iris coloboma, Mic... |
OMIM:305600 |
Microgastria-Limb Reduction Defects Association |
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Anophthalmia |
OMIM:156810 |
Joubert Syndrome 21 |
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Anophthalmia |
OMIM:615636 |
Charge Syndrome |
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Anophthalmia, Optic atrophy, Iris coloboma, Microphthalmia, Facial palsy, Chorioretinal coloboma |
ORPHA:138 |
Holoprosencephaly 9 |
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Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:610829 |
Oculo-Palato-Cerebral Syndrome |
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Remnants of the hyaloid vascular system, Retinal detachment, Microphthalmia |
ORPHA:2714 |
Charge Syndrome |
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Retinal coloboma, Anophthalmia, Unilateral microphthalmos, Coloboma, Iris coloboma, Microphthalmi... |
OMIM:214800 |
Microphthalmia With Limb Anomalies |
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Optic atrophy, Camptodactyly of 2nd-5th fingers, True anophthalmia, Microphthalmia |
ORPHA:1106 |
Fraser Syndrome 1 |
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Anophthalmia, Bilateral microphthalmos |
OMIM:219000 |
Branchiooculofacial Syndrome |
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Retinal coloboma, Anophthalmia, Iris coloboma, Elbow flexion contracture, Microphthalmia, Facial ... |
OMIM:113620 |
Microphthalmia, Syndromic 6 |
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Flexion contracture of thumb, Coloboma, Anophthalmia, Microphthalmia |
OMIM:607932 |
Fraser Syndrome |
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Anophthalmia, Microphthalmia |
ORPHA:2052 |
Microphthalmia, Syndromic 1 |
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Joint contracture of the hand, Anophthalmia, Optic disc coloboma, Camptodactyly, Iris coloboma, M... |
OMIM:309800 |
Neurofibromatosis Type 2 |
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Remnants of the hyaloid vascular system, Wrist drop, Foot dorsiflexor weakness, Facial palsy |
ORPHA:637 |
Holoprosencephaly 2 |
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Remnants of the hyaloid vascular system, Iris coloboma, Cyclopia, Microphthalmia, Chorioretinal c... |
OMIM:157170 |
Neuroocular Syndrome |
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Remnants of the hyaloid vascular system, Hypoplasia of the fovea, Iris coloboma, Microphthalmia, ... |
OMIM:619539 |
Norrie Disease |
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Remnants of the hyaloid vascular system, Retinal detachment, Aplasia/Hypoplasia of the lens, Opti... |
ORPHA:649 |
Craniofacial Microsomia |
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Anophthalmia, Hypoplasia of facial musculature, Microphthalmia |
OMIM:164210 |
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
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OMIM:615760 |